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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
Functions of the Bloom Syndrome Helicase N-terminal Intrinsically Disordered Region.
Bereda CC, Dewey EB, Nasr MA, Sekelsky J. Bereda CC, et al. bioRxiv [Preprint]. 2024 Apr 15:2024.04.12.589165. doi: 10.1101/2024.04.12.589165. bioRxiv. 2024. PMID: 38659896 Free PMC article. Preprint.
Bloom Syndrome helicase (Blm) is a RecQ family helicase involved in DNA repair, cell-cycle progression, and development. Pathogenic variants in human BLM cause the autosomal recessive disorder Bloom Syndrome, characterized by predisposition to numerous …
Bloom Syndrome helicase (Blm) is a RecQ family helicase involved in DNA repair, cell-cycle progression, and development. Patho …
BLM helicase unwinds lagging strand substrates to assemble the ALT telomere damage response.
Jiang H, Zhang T, Kaur H, Shi T, Krishnan A, Kwon Y, Sung P, Greenberg RA. Jiang H, et al. Mol Cell. 2024 May 2;84(9):1684-1698.e9. doi: 10.1016/j.molcel.2024.03.011. Epub 2024 Apr 8. Mol Cell. 2024. PMID: 38593805
The Bloom syndrome (BLM) helicase is critical for alternative lengthening of telomeres (ALT), a homology-directed repair (HDR)-mediated telomere maintenance mechanism that is prevalent in cancers of mesenchymal origin. ...
The Bloom syndrome (BLM) helicase is critical for alternative lengthening of telomeres (ALT), a homology-directed repair (HDR) …
A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.
Ohashi T, Kunimoto H, Nukui J, Teshigawara H, Koyama S, Miyazaki T, Hagihara M, Matsumoto K, Koshimizu E, Tsuchida N, Hamanoue H, Miyatake S, Yachie A, Matsumoto N, Nakajima H. Ohashi T, et al. Int J Hematol. 2024 May;119(5):603-607. doi: 10.1007/s12185-024-03751-x. Epub 2024 Mar 15. Int J Hematol. 2024. PMID: 38489090
Bloom syndrome (BS) is an autosomal recessive genetic disorder caused by variants in the BLM gene. ...
Bloom syndrome (BS) is an autosomal recessive genetic disorder caused by variants in the BLM gene. ...
Genetic testing for hereditary cancer syndromes in Tunisian patients: Impact on health system.
Jandoubi N, Boujemaa M, Mighri N, Mejri N, Ben Nasr S, Bouaziz H, Berrazega Y, Rachdi H, Daoud N, Zribi A, Ayari J, El Benna H, Labidi S, Haddaoui A, Mrad R, Ben Ahmed S, Boussen H, Abdelhak S, Boubaker S, Hamdi Y. Jandoubi N, et al. Transl Oncol. 2024 May;43:101912. doi: 10.1016/j.tranon.2024.101912. Epub 2024 Feb 21. Transl Oncol. 2024. PMID: 38387387 Free PMC article.
Genetic investigation also allowed the identification of a new BLM homozygous mutation (c.3254dupT) in one patient with multiple primary cancers. Phenotype-genotype correlation suggests the diagnosis of Bloom syndrome. A recurrent MUTYH mutation (c.1143_1144dup) was …
Genetic investigation also allowed the identification of a new BLM homozygous mutation (c.3254dupT) in one patient with multiple primary can …
Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.
Lin I, Wei A, Gebo TA, Boutros PC, Flanagan M, Kucine N, Cunniff C, Arboleda VA, Chang VY. Lin I, et al. medRxiv [Preprint]. 2024 Feb 6:2024.02.02.24302163. doi: 10.1101/2024.02.02.24302163. medRxiv. 2024. PMID: 38370823 Free PMC article. Preprint.
BACKGROUND: Bloom Syndrome (BSyn) is an autosomal recessive disorder caused by biallelic germline variants in BLM, which functions to maintain genomic stability. ...
BACKGROUND: Bloom Syndrome (BSyn) is an autosomal recessive disorder caused by biallelic germline variants in BLM, which funct …
TFIP11 promotes replication fork reversal to preserve genome stability.
Chen J, Wu M, Yang Y, Ruan C, Luo Y, Song L, Wu T, Huang J, Yang B, Liu T. Chen J, et al. Nat Commun. 2024 Feb 10;15(1):1262. doi: 10.1038/s41467-024-45684-3. Nat Commun. 2024. PMID: 38341452 Free PMC article.
Replication fork reversal, a critical protective mechanism against replication stress in higher eukaryotic cells, is orchestrated via a series of coordinated enzymatic reactions. The Bloom syndrome gene product, BLM, a member of the highly conserved RecQ helicase fa …
Replication fork reversal, a critical protective mechanism against replication stress in higher eukaryotic cells, is orchestrated via a seri …
BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.
Tsukada K, Jones SE, Bannister J, Durin MA, Vendrell I, Fawkes M, Fischer R, Kessler BM, Chapman JR, Blackford AN. Tsukada K, et al. Mol Cell. 2024 Feb 15;84(4):640-658.e10. doi: 10.1016/j.molcel.2023.12.040. Epub 2024 Jan 23. Mol Cell. 2024. PMID: 38266639 Free article.
The Bloom syndrome helicase BLM interacts with topoisomerase IIIalpha (TOP3A), RMI1, and RMI2 to form the BTR complex, which dissolves double Holliday junctions and DNA replication intermediates to promote sister chromatid disjunction before cell division. ...
The Bloom syndrome helicase BLM interacts with topoisomerase IIIalpha (TOP3A), RMI1, and RMI2 to form the BTR complex, which d …
Design and synthesis of quinazolin-4-one derivatives as potential anticancer agents and investigation of their interaction with RecQ helicases.
Haggag HS, Aboukhatwa SM, Nafie MS, Paul A, Sharafeldin N, Oliver AW, El-Hamamsy MH. Haggag HS, et al. Bioorg Chem. 2024 Mar;144:107086. doi: 10.1016/j.bioorg.2023.107086. Epub 2024 Jan 4. Bioorg Chem. 2024. PMID: 38219478
Compound 11g demonstrated high cytotoxic activity against all examined cell lines. The compounds were further assayed for Bloom syndrome (BLM) helicase inhibition, where 11g, 11q, and 11u showed moderate activity. ...
Compound 11g demonstrated high cytotoxic activity against all examined cell lines. The compounds were further assayed for Bloom sy …
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations.
Rosenblum LS, Auger SM, Zhu H, Zhou Z, Xin W, Reiner J, Wolf Z, Leach NT. Rosenblum LS, et al. J Mol Diagn. 2024 Mar;26(3):202-212. doi: 10.1016/j.jmoldx.2023.12.002. Epub 2024 Jan 1. J Mol Diagn. 2024. PMID: 38171482 Free article.
However, the spectrum of genes considered for prenatal testing is expanding because of genetic testing for hereditary cancer risk (HCR) and inclusion of conditions with associated cancer risk in carrier screening panels. A few of these disorders, such as ataxia telangiectasia and …
However, the spectrum of genes considered for prenatal testing is expanding because of genetic testing for hereditary cancer risk (HCR) and …
Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
Pekpak Sahinoglu E, Oren AC, Sahinoglu B, Gumus U, Akbayram S. Pekpak Sahinoglu E, et al. J Pediatr Hematol Oncol. 2024 Mar 1;46(2):e199-e201. doi: 10.1097/MPH.0000000000002798. Epub 2023 Dec 18. J Pediatr Hematol Oncol. 2024. PMID: 38113221
Bloom syndrome (BS) is a rare autosomal recessive inherited disorder. ...(trp44*), c.430 dup(p.Val144fs)] and a new homozygous variant in Bloom Syndrome RecQ like helicase gene [c.2074+2T>C p.(?)]. She was diagnosed with both BS and KD. ...
Bloom syndrome (BS) is a rare autosomal recessive inherited disorder. ...(trp44*), c.430 dup(p.Val144fs)] and a new homozygous …
RMI1 facilitates repair of ionizing radiation-induced DNA damage and maintenance of genomic stability.
Fang L, Sun Y, Dong M, Yang M, Hao J, Li J, Zhang H, He N, Du L, Xu C. Fang L, et al. Cell Death Discov. 2023 Nov 25;9(1):426. doi: 10.1038/s41420-023-01726-1. Cell Death Discov. 2023. PMID: 38007566 Free PMC article.
RecQ-mediated genome instability protein 1 (RMI1) is a member of an evolutionarily conserved Bloom syndrome complex, which prevents and resolves aberrant recombination products during HR, thereby promoting genome stability. ...
RecQ-mediated genome instability protein 1 (RMI1) is a member of an evolutionarily conserved Bloom syndrome complex, which pre …
Bisbenzylisoquinoline alkaloid fangchinoline derivative HY-2 inhibits breast cancer cells by suppressing BLM DNA helicase.
Zhang W, Yu X, Bao L, He T, Pan W, Li P, Liu J, Liu X, Yang L, Liu J. Zhang W, et al. Biomed Pharmacother. 2023 Dec 31;169:115908. doi: 10.1016/j.biopha.2023.115908. Epub 2023 Nov 20. Biomed Pharmacother. 2023. PMID: 37988849 Free article.
The high expression of BLM (Bloom syndrome) DNA helicase in tumors involves its strong association with cell expansion. ...
The high expression of BLM (Bloom syndrome) DNA helicase in tumors involves its strong association with cell expansion. ...
Ischemic Stroke with Positive Antiphospholipid Antibodies in Bloom Syndrome: A Case Report.
Zhang J, Wei C, Wu J. Zhang J, et al. J Stroke Cerebrovasc Dis. 2024 Jan;33(1):107490. doi: 10.1016/j.jstrokecerebrovasdis.2023.107490. Epub 2023 Nov 21. J Stroke Cerebrovasc Dis. 2024. PMID: 37988834 Free article.
Currently, there have been no reports of acute cerebral infarction in patients with Bloom syndrome. Here, we report a case of Bloom syndrome complicated by elevated antiphospholipid antibodies and acute cerebral infarction. MATERIALS AND METHODS: A 23- …
Currently, there have been no reports of acute cerebral infarction in patients with Bloom syndrome. Here, we report a case of …
Bloom Syndrome.
Langer K, Cunniff CM, Kucine N. Langer K, et al. 2006 Mar 22 [updated 2023 Oct 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Mar 22 [updated 2023 Oct 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301572 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. ...
CLINICAL CHARACTERISTICS: Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnorm …
Congenital Telangiectatic Erythema: Scoping Review.
Wojtara MS, Kang J, Zaman M. Wojtara MS, et al. JMIR Dermatol. 2023 Oct 5;6:e48413. doi: 10.2196/48413. JMIR Dermatol. 2023. PMID: 37796556 Free PMC article. Review.
BACKGROUND: Congenital telangiectatic erythema (CTE), also known as Bloom syndrome, is a rare autosomal recessive disorder characterized by below-average height, a narrow face, a red skin rash occurring on sun-exposed areas of the body, and an increased risk of canc …
BACKGROUND: Congenital telangiectatic erythema (CTE), also known as Bloom syndrome, is a rare autosomal recessive disorder cha …
Hematopoietic cell transplantation for hematological malignancies in Bloom syndrome.
Nishiyama Y, Mizuki K, Hoshino A, Hirabayashi S, Magara T, Ashiarai M, Miyamoto S, Ono R, Takahashi S, Hosoya Y, Niizato D, Yoshihara H, Nishimura A, Mitsuiki N, Kamiya T, Takasawa K, Kajiwara M, Kanegane H, Morio T, Manabe A, Isoda T, Hasegawa D, Takagi M. Nishiyama Y, et al. Pediatr Blood Cancer. 2023 Nov;70(11):e30655. doi: 10.1002/pbc.30655. Epub 2023 Aug 29. Pediatr Blood Cancer. 2023. PMID: 37644665 No abstract available.
Bloom syndrome patients and mice display accelerated epigenetic aging.
Lee J, Zhang J, Flanagan M, Martinez JA, Cunniff C, Kucine N, Lu AT, Haghani A, Gordevičius J, Horvath S, Chang VY. Lee J, et al. Aging Cell. 2023 Oct;22(10):e13964. doi: 10.1111/acel.13964. Epub 2023 Aug 18. Aging Cell. 2023. PMID: 37594403 Free PMC article.
Bloom syndrome (BSyn) is an autosomal recessive disorder caused by variants in the BLM gene, which is involved in genome stability. ...Additionally, homozygous Blm mice exhibit accelerated methylation age in multiple tissues, including brain, blood, kidney, heart, a …
Bloom syndrome (BSyn) is an autosomal recessive disorder caused by variants in the BLM gene, which is involved in genome stabi …
Photosensitivity.
Oakley AM, Badri T, Harris BW. Oakley AM, et al. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 28613726 Free Books & Documents.
Genetic photodermatoses (very rare disorders due to genomic instability): Xeroderma pigmentosum. Cockayne syndrome. Trichothiodystrophy. Bloom syndrome. Rothmund Thomson syndrome....
Genetic photodermatoses (very rare disorders due to genomic instability): Xeroderma pigmentosum. Cockayne syndrome. Trichothiodystrophy. …
Bloom Syndrome.
Hafsi W, Badri T, Rice AS. Hafsi W, et al. 2023 Jul 3. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jul 3. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 28846287 Free Books & Documents.
Bloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare genodermatosis characterized by genomic instability and predisposition to the development of a variety of cancers. Bloom syndrome is caused by mu …
Bloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare genodermatosis char …
BLM overexpression as a predictive biomarker for CHK1 inhibitor response in PARP inhibitor-resistant BRCA-mutant ovarian cancer.
Gupta N, Huang TT, Nair JR, An D, Zurcher G, Lampert EJ, McCoy A, Cimino-Mathews A, Swisher EM, Radke MR, Lockwood CM, Reichel JB, Chiang CY, Wilson KM, Cheng KC, Nousome D, Lee JM. Gupta N, et al. Sci Transl Med. 2023 Jun 21;15(701):eadd7872. doi: 10.1126/scitranslmed.add7872. Epub 2023 Jun 21. Sci Transl Med. 2023. PMID: 37343085 Free PMC article. Clinical Trial.
Exploratory biomarker analyses revealed that replication stress and fork stabilization were associated with clinical benefit to CHK1i. In particular, overexpression of Bloom syndrome RecQ helicase (BLM) and cyclin E1 (CCNE1) overexpression or copy number gain/amplif …
Exploratory biomarker analyses revealed that replication stress and fork stabilization were associated with clinical benefit to CHK1i. In pa …
Understanding G-Quadruplex Biology and Stability Using Single-Molecule Techniques.
Kusi-Appauh N, Ralph SF, van Oijen AM, Spenkelink LM. Kusi-Appauh N, et al. J Phys Chem B. 2023 Jun 29;127(25):5521-5540. doi: 10.1021/acs.jpcb.3c01708. Epub 2023 Jun 13. J Phys Chem B. 2023. PMID: 37312244 Review.
This Review will illustrate how various cellular components including replication protein A (RPA), Bloom syndrome protein (BLM), and Pif1 helicases are capable of unfolding qDNA. ...
This Review will illustrate how various cellular components including replication protein A (RPA), Bloom syndrome protein (BLM …
Biochemical properties of naturally occurring human bloom helicase variants.
Cueny RR, Varma S, Schmidt KH, Keck JL. Cueny RR, et al. PLoS One. 2023 Jun 2;18(6):e0281524. doi: 10.1371/journal.pone.0281524. eCollection 2023. PLoS One. 2023. PMID: 37267408 Free PMC article.
Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replication, DNA repair, and telomere maintenance. Mutations in human BLM cause Bloom syndrome (BS), an autosomal recessive disorder th …
Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replicati …
Photoelectrochemical polarity-switching-mode and split-type biosensor based on SQ-COFs/BiOBr heterostructure for the detection of uracil-DNA glycosylase.
Zhao H, Liu T, Yang F. Zhao H, et al. Talanta. 2023 Sep 1;262:124694. doi: 10.1016/j.talanta.2023.124694. Epub 2023 May 19. Talanta. 2023. PMID: 37244241
Here, we constructed a split-type and photocurrent polarity switching photoelectrochemical (PEC) biosensor for ultrasensitive detection of Uracil-DNA glycosylase (UDG, abnormal UDG activity is correlated with human immunodeficiency, cancers, bloom syndrome, neurodeg …
Here, we constructed a split-type and photocurrent polarity switching photoelectrochemical (PEC) biosensor for ultrasensitive detection of U …
A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report.
Wayhelova M, Vallova V, Broz P, Mikulasova A, Machackova D, Filkova HD, Smetana J, Takacsova A, Gaillyova R, Kuglik P. Wayhelova M, et al. Mol Med Rep. 2023 May;27(5):110. doi: 10.3892/mmr.2023.12997. Epub 2023 Apr 13. Mol Med Rep. 2023. PMID: 37052241 Free PMC article.
Pathogenic variants affecting the BLM gene are responsible for the manifestation of extremely rare cancer-predisposing Bloom syndrome. The present study reports on a case of an infant with a congenital hypotrophy, short stature and abnormal facial appearance. ...The …
Pathogenic variants affecting the BLM gene are responsible for the manifestation of extremely rare cancer-predisposing Bloom syndr …
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ. Erdinc D, et al. EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4. EMBO Mol Med. 2023. PMID: 37013609 Free PMC article.
Pathogenic variants in TOP3A can cause a disorder similar to Bloom syndrome, which results from bi-allelic pathogenic variants in BLM, encoding a nuclear-binding partner of TOP3A. ...
Pathogenic variants in TOP3A can cause a disorder similar to Bloom syndrome, which results from bi-allelic pathogenic variants …
Infections in DNA Repair Defects.
Yilmaz Demirdag Y, Gupta S. Yilmaz Demirdag Y, et al. Pathogens. 2023 Mar 10;12(3):440. doi: 10.3390/pathogens12030440. Pathogens. 2023. PMID: 36986362 Free PMC article. Review.
KNO1-mediated autophagic degradation of the Bloom syndrome complex component RMI1 promotes homologous recombination.
Chen P, De Winne N, De Jaeger G, Ito M, Heese M, Schnittger A. Chen P, et al. EMBO J. 2023 May 15;42(10):e111980. doi: 10.15252/embj.2022111980. Epub 2023 Mar 27. EMBO J. 2023. PMID: 36970874 Free PMC article.
A central regulator of homologous recombination is the conserved helicase-containing Bloom syndrome complex, renowned for its crucial role in maintaining genome integrity. ...
A central regulator of homologous recombination is the conserved helicase-containing Bloom syndrome complex, renowned for its …
RecQ dysfunction contributes to social and depressive-like behavior and affects aldolase activity in mice.
Hou Y, Park JH, Dan X, Chu X, Yang B, Hussain M, Croteau DL, Bohr VA. Hou Y, et al. Neurobiol Dis. 2023 May;180:106092. doi: 10.1016/j.nbd.2023.106092. Epub 2023 Mar 21. Neurobiol Dis. 2023. PMID: 36948261 Free PMC article.
RecQ helicase family proteins play vital roles in maintaining genome stability, including DNA replication, recombination, and DNA repair. In human cells, there are five RecQ helicases: RECQL1, Bloom syndrome (BLM), Werner syndrome (WRN), RECQL4, and RECQL5. ...
RecQ helicase family proteins play vital roles in maintaining genome stability, including DNA replication, recombination, and DNA repair. In …
Bloom syndrome in children: unusual case of early onset lung damage.
Ajmi H, Trabelsi I, Rjiba K, Mabrouk S, Zouari N, Mougou-Zerelli S, Verloes A, Abroug S. Ajmi H, et al. Clin Dysmorphol. 2023 Apr 1;32(2):95-96. doi: 10.1097/MCD.0000000000000448. Epub 2023 Feb 17. Clin Dysmorphol. 2023. PMID: 36876347 No abstract available.
Biochemical Properties of Naturally Occurring Human Bloom Helicase Variants.
Cueny RR, Varma S, Schmidt KH, Keck JL. Cueny RR, et al. bioRxiv [Preprint]. 2023 Jan 26:2023.01.26.525669. doi: 10.1101/2023.01.26.525669. bioRxiv. 2023. PMID: 36747637 Free PMC article. Updated. Preprint.
Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replication, DNA repair, and telomere maintenance. Mutations in human BLM cause Bloom syndrome (BS), an autosomal recessive disorder th …
Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replicati …
Protocol for a high titer of BaEV-Rless pseudotyped lentiviral vector: Focus on syncytium formation and detachment.
Noguchi K, Ikawa Y, Takenaka M, Sakai Y, Fujiki T, Kuroda R, Chappell M, Ghiaccio V, Rivella S, Wada T. Noguchi K, et al. J Virol Methods. 2023 Apr;314:114689. doi: 10.1016/j.jviromet.2023.114689. Epub 2023 Feb 3. J Virol Methods. 2023. PMID: 36739979 Free article.
The development of hematopoietic stem cell (HSCs) gene therapy for DNA repair disorders, such as Fanconi anemia and Bloom syndrome, is challenging because of the induction of HSCs apoptosis by cytokine stimulation. ...
The development of hematopoietic stem cell (HSCs) gene therapy for DNA repair disorders, such as Fanconi anemia and Bloom syndrome …
Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome.
Kaneko H, Kawase C, Seki J, Ikawa Y, Yachie A, Funato M. Kaneko H, et al. J Hum Genet. 2023 May;68(5):321-327. doi: 10.1038/s10038-023-01121-9. Epub 2023 Jan 17. J Hum Genet. 2023. PMID: 36646944
Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability that leads to various complications, including cancer. ...
Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability that leads to various complica …
Leukemia.
Chennamadhavuni A, Lyengar V, Mukkamalla SKR, Shimanovsky A. Chennamadhavuni A, et al. 2023 Jan 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jan 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32809325 Free Books & Documents.
Many genetic risk factors have been identified, such as Klinefelter and Down syndromes, ataxia telangiectasia, Bloom syndrome, and telomeropathies such as Fanconi anemia, dyskeratosis congenita, and Shwachman-Diamond syndrome; germline mutations in RUNX1, CEBPA, to …
Many genetic risk factors have been identified, such as Klinefelter and Down syndromes, ataxia telangiectasia, Bloom syndrome, …
Germline Pathogenic Variants in Squamous Cell Carcinoma of the Head and Neck.
Drbohlavová T, Argalácsová S, Soukupová J, Vočka M. Drbohlavová T, et al. Folia Biol (Praha). 2023;69(4):107-115. doi: 10.14712/fb2023069040107. Folia Biol (Praha). 2023. PMID: 38410968 Free article.
While the majority of cases are sporadic, several well-defined hereditary syndromes have been associated with a higher risk of developing HNSCC including Li-Fraumeni syndrome, Fanconi anaemia, Bloom syndrome, familial atypical multiple mole melanoma, and dyskeratosi …
While the majority of cases are sporadic, several well-defined hereditary syndromes have been associated with a higher risk of developing HN …
BLM promotes malignancy in PCa by inducing KRAS expression and RhoA suppression via its interaction with HDGF and activation of MAPK/ERK pathway.
Guo Y, Xu H, Huang M, Ruan Y. Guo Y, et al. J Cell Commun Signal. 2023 Sep;17(3):757-772. doi: 10.1007/s12079-022-00717-8. Epub 2022 Dec 27. J Cell Commun Signal. 2023. PMID: 36574142 Free PMC article.
Prostate cancer (PCa) has long been the leading cause of cancer-associated deaths among male worldwide. Our previous studies have shown that Bloom syndrome protein (BLM) plays a vital role in PCa proliferation, yet the underlying molecular mechanism remains largely …
Prostate cancer (PCa) has long been the leading cause of cancer-associated deaths among male worldwide. Our previous studies have shown that …
ML216-Induced BLM Helicase Inhibition Sensitizes PCa Cells to the DNA-Crosslinking Agent Cisplatin.
Ma XY, Zhao JF, Ruan Y, Zhang WM, Zhang LQ, Cai ZD, Xu HQ. Ma XY, et al. Molecules. 2022 Dec 12;27(24):8790. doi: 10.3390/molecules27248790. Molecules. 2022. PMID: 36557923 Free PMC article.
Cell viability assay, neutral comet assay, western blotting (WB), and cell cycle and apoptosis analysis were used to determine the synergistic effect and mechanism of ML216, a Bloom syndrome protein (BLM) helicase inhibitor, and cisplatin (CDDP), a DNA-crosslinking …
Cell viability assay, neutral comet assay, western blotting (WB), and cell cycle and apoptosis analysis were used to determine the synergist …
The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins.
Soniat MM, Nguyen G, Kuo HC, Finkelstein IJ. Soniat MM, et al. J Biol Chem. 2023 Feb;299(2):102802. doi: 10.1016/j.jbc.2022.102802. Epub 2022 Dec 16. J Biol Chem. 2023. PMID: 36529288 Free PMC article.
Resection is catalyzed by the resectosome, a multienzyme complex that includes bloom syndrome helicase (BLM), DNA2 or exonuclease 1 nucleases, and additional DNA-binding proteins. ...
Resection is catalyzed by the resectosome, a multienzyme complex that includes bloom syndrome helicase (BLM), DNA2 or exonucle …
N6‑methyladenosine‑induced long non‑coding RNA PVT1 regulates the miR‑27b‑3p/BLM axis to promote prostate cancer progression.
Chen B, Liu C, Long H, Bai G, Zhu Y, Xu H. Chen B, et al. Int J Oncol. 2023 Jan;62(1):16. doi: 10.3892/ijo.2022.5464. Epub 2022 Dec 9. Int J Oncol. 2023. PMID: 36484368 Free PMC article.
Bioinformatics analysis was used to predict the interactions of miR-27b-3p with PVT1 and bloom syndrome protein (BLM), and these interactions were validated using RIP, dual-luciferase reporter and biotin pull-down assays. ...
Bioinformatics analysis was used to predict the interactions of miR-27b-3p with PVT1 and bloom syndrome protein (BLM), and the …
Beta Human Papillomavirus 8 E6 Induces Micronucleus Formation and Promotes Chromothripsis.
Dacus D, Stancic S, Pollina SR, Rifrogiate E, Palinski R, Wallace NA. Dacus D, et al. J Virol. 2022 Oct 12;96(19):e0101522. doi: 10.1128/jvi.01015-22. Epub 2022 Sep 21. J Virol. 2022. PMID: 36129261 Free PMC article.
We showed that HPV8 E6 reduced the abundance of anaphase bridge resolving helicase, Bloom syndrome protein (BLM). The diminished BLM was associated with increased segregation errors and micronuclei. ...
We showed that HPV8 E6 reduced the abundance of anaphase bridge resolving helicase, Bloom syndrome protein (BLM). The diminish …
Chromosome Instability Syndromes.
Kaseb H, Rayi A, Hozayen S. Kaseb H, et al. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 30725883 Free Books & Documents.
The following chromosomal instability syndromes are rare but well-described: Ataxia-telangiectasia . Bloom syndrome . Fanconi anemia . Nijmegen breakage syndrome . Other rare syndromes include ataxia telangiectasia-like disorder; immunodeficiency, centromeric instab …
The following chromosomal instability syndromes are rare but well-described: Ataxia-telangiectasia . Bloom syndrome . Fanconi …
Refractory gastroduodenal ulcers: A rare complication with Bloom syndrome.
Usami M, Ikawa Y, Sakai Y, Fujiki T, Wada T. Usami M, et al. Clin Case Rep. 2022 Sep 12;10(9):10.1002/ccr3.6141. doi: 10.1002/ccr3.6141. eCollection 2022 Sep. Clin Case Rep. 2022. PMID: 36110332 Free PMC article.
Bloom syndrome patients often develop severe gastrointestinal symptoms mainly caused by gastric tumors due to DNA repair disorder. Here, we report 31-year-old Bloom syndrome patient suffering persistent abdominal pain due to refractory gastroduodenal u …
Bloom syndrome patients often develop severe gastrointestinal symptoms mainly caused by gastric tumors due to DNA repair disor …
Simultaneous Mechanical and Fluorescence Detection of Helicase-Catalyzed DNA Unwinding.
Bi L, Qin Z, Hou XM, Modesti M, Sun B. Bi L, et al. Methods Mol Biol. 2022;2478:329-347. doi: 10.1007/978-1-0716-2229-2_12. Methods Mol Biol. 2022. PMID: 36063326
In this chapter, we describe a single-molecule method that combines optical tweezers with confocal fluorescence microscopy to study helicase-catalyzed DNA unwinding. Using Bloom syndrome protein (BLM), a multifunctional helicase that maintains genome stability, as a …
In this chapter, we describe a single-molecule method that combines optical tweezers with confocal fluorescence microscopy to study helicase …
Downregulation of BLM RecQ helicase inhibits proliferation, promotes the apoptosis and enhances the sensitivity of bladder cancer cells to cisplatin.
Feng S, Qian X, Feng D, Zhang X. Feng S, et al. Mol Med Rep. 2022 Oct;26(4):313. doi: 10.3892/mmr.2022.12829. Epub 2022 Aug 25. Mol Med Rep. 2022. PMID: 36004459 Free PMC article.
Bloom syndrome protein (BLM) is known to maintain genomic integrity including DNA repair, recombination, replication and transcription. Its dysregulation affects the genomic instability of cells, which results in a high risk of developing various types of cancer and …
Bloom syndrome protein (BLM) is known to maintain genomic integrity including DNA repair, recombination, replication and trans …
Bloom Syndrome Helicase Compresses Single-Stranded DNA into Phase-Separated Condensates.
Wang T, Hu J, Li Y, Bi L, Guo L, Jia X, Zhang X, Li D, Hou XM, Modesti M, Xi XG, Liu C, Sun B. Wang T, et al. Angew Chem Int Ed Engl. 2022 Sep 26;61(39):e202209463. doi: 10.1002/anie.202209463. Epub 2022 Aug 23. Angew Chem Int Ed Engl. 2022. PMID: 35922882
Bloom syndrome protein (BLM) is a conserved RecQ family helicase involved in the maintenance of genome stability. ...
Bloom syndrome protein (BLM) is a conserved RecQ family helicase involved in the maintenance of genome stability. ...
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases.
Primiano G, Torraco A, Verrigni D, Sabino A, Bertini E, Carrozzo R, Silvestri G, Servidei S. Primiano G, et al. Neurol Genet. 2022 Jul 6;8(4):e200007. doi: 10.1212/NXG.0000000000200007. eCollection 2022 Aug. Neurol Genet. 2022. PMID: 35812164 Free PMC article.
Sequence variants in the TOP3A gene have been associated with the Bloom syndrome-like disorder and described in an adult patient with progressive external ophthalmoplegia. ...DISCUSSION: This case suggests that TOP3A is one of the several nuclear genes associated wi …
Sequence variants in the TOP3A gene have been associated with the Bloom syndrome-like disorder and described in an adult patie …
A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
Marmolejo Castañeda DH, Cruellas Lapeña M, Carrasco López E, Aparicio Español G, Valverde Morales C, López-Fernández A, Pérez Ballesteros E, Torres-Esquius S, Pardo Muñoz M, Balmaña Gelpi J. Marmolejo Castañeda DH, et al. Fam Cancer. 2023 Jan;22(1):99-102. doi: 10.1007/s10689-022-00303-2. Epub 2022 Jul 4. Fam Cancer. 2023. PMID: 35781852
Here, we describe a 55-year-old male who had been diagnosed with Bloom Syndrome during childhood due to the suggestive physical features such as short stature, chronic facial erythema, poikiloderma in face and extremities, microtia and microcephaly. ...
Here, we describe a 55-year-old male who had been diagnosed with Bloom Syndrome during childhood due to the suggestive physica …
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X, Maglione PJ, Wehr C, Li X, Wang Y, Abolhassani H, Deripapa E, Liu D, Borte S, Du L, Wan H, Plötner A, Giannoula Y, Ko HB, Hou Y, Zhu S, Grossman JK, Sander B, Grimbacher B, Hammarström L, Fedorova A, Rosenzweig SD, Shcherbina A, Wu K, Warnatz K, Cunningham-Rundles C, Pan-Hammarström Q. Ye X, et al. Blood Adv. 2022 Sep 27;6(18):5403-5414. doi: 10.1182/bloodadvances.2021006654. Blood Adv. 2022. PMID: 35687490 Free PMC article.
We also identified 5 genomic mutational signatures, including 2 DNA repair deficiency-related signatures, in IEI-associated lymphomas and a strikingly high number of inter- and intrachromosomal structural variants in the tumor genome of a Bloom syndrome patient. In …
We also identified 5 genomic mutational signatures, including 2 DNA repair deficiency-related signatures, in IEI-associated lymphomas and a …
The convergence of head-on DNA unwinding forks induces helicase oligomerization and activity transition.
Bi L, Qin Z, Wang T, Li Y, Jia X, Zhang X, Hou XM, Modesti M, Xi XG, Sun B. Bi L, et al. Proc Natl Acad Sci U S A. 2022 Jun 7;119(23):e2116462119. doi: 10.1073/pnas.2116462119. Epub 2022 Jun 3. Proc Natl Acad Sci U S A. 2022. PMID: 35658074 Free PMC article.
Here, we address these questions using a combined single-molecule approach and Bloom syndrome helicase (BLM). By examining the head-on collision of two BLM-mediated DNA unwinding forks, we find that two groups of BLM, upon fork convergence, promptly oligomerize acro …
Here, we address these questions using a combined single-molecule approach and Bloom syndrome helicase (BLM). By examining the …
Identifying novel SMYD3 interactors on the trail of cancer hallmarks.
Fasano C, Lepore Signorile M, De Marco K, Forte G, Sanese P, Grossi V, Simone C. Fasano C, et al. Comput Struct Biotechnol J. 2022 Apr 11;20:1860-1875. doi: 10.1016/j.csbj.2022.03.037. eCollection 2022. Comput Struct Biotechnol J. 2022. PMID: 35495117 Free PMC article.
Bloom helicase mediates formation of large single-stranded DNA loops during DNA end processing.
Xue C, Salunkhe SJ, Tomimatsu N, Kawale AS, Kwon Y, Burma S, Sung P, Greene EC. Xue C, et al. Nat Commun. 2022 Apr 26;13(1):2248. doi: 10.1038/s41467-022-29937-7. Nat Commun. 2022. PMID: 35473934 Free PMC article.
Bloom syndrome (BS) is associated with a profoundly increased cancer risk and is caused by mutations in the Bloom helicase (BLM). ...
Bloom syndrome (BS) is associated with a profoundly increased cancer risk and is caused by mutations in the Bloom helicase (BL …
Radiotherapy and radiosensitivity syndromes in DNA repair gene mutations.
Lohynská R, Pechačová Z, Mazaná E, Čejková J, Nováková-Jirešová A, Hornová J, Langová M. Lohynská R, et al. Klin Onkol. 2022 Spring;35(2):119-127. doi: 10.48095/ccko2022119. Klin Onkol. 2022. PMID: 35459336 English.
Most radiosensitivity syndromes are autosomal recessively inherited; examples are ataxia teleangiectasia, Nijmegen breakage syndrome, xeroderma pigmentosum, Cockayne syndrome, Bloom syndrome and Werner syndrome. CONCLUSION: Radiotherapy is contraindicated in most ho …
Most radiosensitivity syndromes are autosomal recessively inherited; examples are ataxia teleangiectasia, Nijmegen breakage syndrome, xerode …
Bloom syndrome helicase contributes to germ line development and longevity in zebrafish.
Annus T, Müller D, Jezsó B, Ullaga G, Németh B, Harami GM, Orbán L, Kovács M, Varga M. Annus T, et al. Cell Death Dis. 2022 Apr 18;13(4):363. doi: 10.1038/s41419-022-04815-8. Cell Death Dis. 2022. PMID: 35436990 Free PMC article.
Our aim was to create and characterize a zebrafish (Danio rerio) disease model for Bloom syndrome, a recessive autosomal disorder. In humans, this syndrome is characterized by short stature, skin rashes, reduced fertility, increased risk of carcinogenesis, and short …
Our aim was to create and characterize a zebrafish (Danio rerio) disease model for Bloom syndrome, a recessive autosomal disor …
Age of first cancer diagnosis and survival in Bloom syndrome.
Sugrañes TA, Flanagan M, Thomas C, Chang VY, Walsh M, Cunniff C. Sugrañes TA, et al. Genet Med. 2022 Jul;24(7):1476-1484. doi: 10.1016/j.gim.2022.03.008. Epub 2022 Apr 13. Genet Med. 2022. PMID: 35420546 Free article.
PURPOSE: This study aimed to describe the spectrum of cancers observed in Bloom Syndrome and the observed survival and age of first cancer diagnosis in Bloom syndrome as these are not well-defined. ...There were no significant differences in time to fi …
PURPOSE: This study aimed to describe the spectrum of cancers observed in Bloom Syndrome and the observed survival and age of …
High Expression of Bloom Syndrome Helicase is a Key Factor for Poor Prognosis and Advanced Malignancy in Patients with Pancreatic Cancer: A Retrospective Study.
Lan C, Yamashita YI, Hayashi H, Nakagawa S, Imai K, Mima K, Kaida T, Matsumoto T, Maruno M, Liu Z, Wu X, Wei F, Baba H. Lan C, et al. Ann Surg Oncol. 2022 Jun;29(6):3551-3564. doi: 10.1245/s10434-022-11500-9. Epub 2022 Apr 13. Ann Surg Oncol. 2022. PMID: 35419757
BACKGROUND: Bloom syndrome helicase (BLM) is overexpressed in multiple types of cancers and its overexpression may induce genomic instability. ...
BACKGROUND: Bloom syndrome helicase (BLM) is overexpressed in multiple types of cancers and its overexpression may induce geno …
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B. Gönenc II, et al. Clin Genet. 2022 May;101(5-6):559-564. doi: 10.1111/cge.14125. Epub 2022 Mar 11. Clin Genet. 2022. PMID: 35218564
Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predisposition, and immunodeficiency. ...
Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth d …
Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability.
Hodson C, Low JKK, van Twest S, Jones SE, Swuec P, Murphy V, Tsukada K, Fawkes M, Bythell-Douglas R, Davies A, Holien JK, O'Rourke JJ, Parker BL, Glaser A, Parker MW, Mackay JP, Blackford AN, Costa A, Deans AJ. Hodson C, et al. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2109093119. doi: 10.1073/pnas.2109093119. Proc Natl Acad Sci U S A. 2022. PMID: 35115399 Free PMC article.
The RecQ-like helicase BLM cooperates with topoisomerase IIIalpha, RMI1, and RMI2 in a heterotetrameric complex (the "Bloom syndrome complex") for dissolution of double Holliday junctions, key intermediates in homologous recombination. Mutations in any component of …
The RecQ-like helicase BLM cooperates with topoisomerase IIIalpha, RMI1, and RMI2 in a heterotetrameric complex (the "Bloom syndro …
Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.
Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B. Gönenc II, et al. Hum Mol Genet. 2022 Jul 7;31(13):2185-2193. doi: 10.1093/hmg/ddab373. Hum Mol Genet. 2022. PMID: 35099000 Free PMC article.
Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency and predisposition to cancer. ...
Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, imm …
New resources for the Drosophila 4th chromosome: FRT101F enabled mitotic clones and Bloom syndrome helicase enabled meiotic recombination.
Goldsmith SL, Shimell M, Tauscher P, Daly SM, Shimmi O, O'Connor MB, Newfeld SJ. Goldsmith SL, et al. G3 (Bethesda). 2022 Apr 4;12(4):jkac019. doi: 10.1093/g3journal/jkac019. G3 (Bethesda). 2022. PMID: 35084488 Free PMC article.
This pair of chromosomes enables both unmarked and MARCM clones. For meiotic recombination, we demonstrate that a Bloom syndrome helicase and recombination defective double mutant genotype can create recombinant 4th chromosomes via female meiosis. ...
This pair of chromosomes enables both unmarked and MARCM clones. For meiotic recombination, we demonstrate that a Bloom syndrome …
Homology-directed repair involves multiple strand invasion cycles in fission yeast.
Vines AJ, Cox K, Leland BA, King MC. Vines AJ, et al. Mol Biol Cell. 2022 Apr 1;33(4):ar30. doi: 10.1091/mbc.E20-07-0433. Epub 2022 Jan 26. Mol Biol Cell. 2022. PMID: 35080989 Free PMC article.
However, failure to colocalize with the donor sequence and execute repair is also more likely in rqh1delta cells, possibly reflecting erroneous strand invasion. This work has implications for the molecular etiology of Bloom syndrome, caused by mutations in BLM and c …
However, failure to colocalize with the donor sequence and execute repair is also more likely in rqh1delta cells, possibly reflecting errone …
RNF4 Regulates the BLM Helicase in Recovery From Replication Fork Collapse.
Ellis N, Zhu J, Yagle MK, Yang WC, Huang J, Kwako A, Seidman MM, Matunis MJ. Ellis N, et al. Front Genet. 2021 Nov 12;12:753535. doi: 10.3389/fgene.2021.753535. eCollection 2021. Front Genet. 2021. PMID: 34868226 Free PMC article.
We also provided evidence that RNF4 recognizes and ubiquitylates sumoylated Bloom syndrome DNA helicase BLM and thereby promotes its proteosome-mediated turnover at damaged DNA replication forks. ...
We also provided evidence that RNF4 recognizes and ubiquitylates sumoylated Bloom syndrome DNA helicase BLM and thereby promot …
Blm helicase facilitates rapid replication of repetitive DNA sequences in early Drosophila development.
Ruchert JM, Brady MM, McMahan S, Lacey KJ, Latta LC, Sekelsky J, Stoffregen EP. Ruchert JM, et al. Genetics. 2022 Jan 4;220(1):iyab169. doi: 10.1093/genetics/iyab169. Genetics. 2022. PMID: 34849849 Free PMC article.
The absence of functional BLM DNA helicase, a member of the RecQ family of helicases, is responsible for the rare human disorder Bloom Syndrome, which results in developmental abnormalities, DNA repair defects, genomic instability, and a predisposition to cancer. .. …
The absence of functional BLM DNA helicase, a member of the RecQ family of helicases, is responsible for the rare human disorder Bloom …
BLM helicase inhibition synergizes with PARP inhibition to improve the radiosensitivity of olaparib resistant non-small cell lung cancer cells by inhibiting homologous recombination repair.
Kong Y, Xu C, Sun X, Sun H, Zhao X, He N, Ji K, Wang Q, Du L, Wang J, Zhang M, Liu Y, Wang Y, Liu Q. Kong Y, et al. Cancer Biol Med. 2021 Dec 1;19(8):1150-71. doi: 10.20892/j.issn.2095-3941.2021.0178. Cancer Biol Med. 2021. PMID: 34846107 Free PMC article.
OBJECTIVE: We aimed to investigate the radiosensitizing efficacy of the poly-ADP-ribose polymerase (PARP) inhibitor, olaparib, and the Bloom syndrome protein (BLM) helicase inhibitor, ML216, in non-small cell lung cancer (NSCLC) cells. ...
OBJECTIVE: We aimed to investigate the radiosensitizing efficacy of the poly-ADP-ribose polymerase (PARP) inhibitor, olaparib, and the Bl …
The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome.
Melikyan M, Gubaeva D, Nikitina I, Ryzhkova D, Mitrofanova L, Yukhacheva D, Pershin D, Shcherbina A, Vasilyev E, Proshchina A, Krivova Y, Tiulpakov A. Melikyan M, et al. J Pediatr Endocrinol Metab. 2021 Oct 27;35(3):405-409. doi: 10.1515/jpem-2021-0464. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34700371
CHI causes life-threatening hypoglycemia in neonates and infants. Bloom syndrome is a rare autosomal recessive disorder caused by mutations in the BLM gene resulting in genetic instability and an elevated rate of spontaneous sister chromatid exchanges. ...
CHI causes life-threatening hypoglycemia in neonates and infants. Bloom syndrome is a rare autosomal recessive disorder caused …
Replication protein A large subunit (RPA1a) limits chiasma formation during rice meiosis.
Miao Y, Shi W, Wang H, Xue Z, You H, Zhang F, Du G, Tang D, Li Y, Shen Y, Cheng Z. Miao Y, et al. Plant Physiol. 2021 Nov 3;187(3):1605-1618. doi: 10.1093/plphys/kiab365. Plant Physiol. 2021. PMID: 34618076 Free PMC article.
Protein-protein interaction assays showed that RPA1a formed a complex with the methyl methansulfonate and UV sensitive 81 (and the Fanconi anemia complementation group M-Bloom syndrome protein homologs (RECQ4A)-Topoisomerase3alpha-RecQ-mediated genome instability 1 …
Protein-protein interaction assays showed that RPA1a formed a complex with the methyl methansulfonate and UV sensitive 81 (and the Fanconi a …
USP37 regulates DNA damage response through stabilizing and deubiquitinating BLM.
Wu C, Chang Y, Chen J, Su Y, Li L, Chen Y, Li Y, Wu J, Huang J, Zhao F, Wang W, Yin H, Wang S, Jin M, Lou Z, Zhu WG, Luo K, Zhang J, Yuan J. Wu C, et al. Nucleic Acids Res. 2021 Nov 8;49(19):11224-11240. doi: 10.1093/nar/gkab842. Nucleic Acids Res. 2021. PMID: 34606619 Free PMC article.
Loss of function mutations in BLM cause the genetic instability/cancer predisposition syndrome Bloom syndrome. However, the molecular mechanism underlying the regulation of BLM in cancers remains largely elusive. ...
Loss of function mutations in BLM cause the genetic instability/cancer predisposition syndrome Bloom syndrome. However, the mo …
Human RecQL4 as a Novel Molecular Target for Cancer Therapy.
Balajee AS. Balajee AS. Cytogenet Genome Res. 2021;161(6-7):305-327. doi: 10.1159/000516568. Epub 2021 Sep 2. Cytogenet Genome Res. 2021. PMID: 34474412 Free article. Review.
Inactivating mutations in 3 of the 5 human RecQ helicases are responsible for the pathogenesis of Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), RAPADILINO, and Baller-Gerold syndrome (BGS). ...
Inactivating mutations in 3 of the 5 human RecQ helicases are responsible for the pathogenesis of Werner syndrome (WS), Bloom synd …
Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.
Martin ES, Ferrer A, Mangaonkar AA, Khan SP, Kohorst MA, Joshi AY, Hogan WJ, Olteanu H, Moyer AM, Al-Kali A, Tefferi A, Chen D, Wudhikarn K, Go R, Viswanatha D, He R, Ketterling R, Nguyen PL, Oliveira JL, Gangat N, Lasho T, Patnaik MM. Martin ES, et al. Am J Hematol. 2021 Nov 1;96(11):1450-1460. doi: 10.1002/ajh.26321. Epub 2021 Aug 27. Am J Hematol. 2021. PMID: 34390506 Free article.
Seventy-two (50%) patients had IBMFS (telomere biology disorders-32,Fanconi anemia-18, Diamond Blackfan Anemia - 11, congenital neutropenia-5, Schwachman-Diamond Syndrome-5 and Bloom Syndrome-1), 27 (19%) had GPS with antecedent thrombocytopenia (RUNX1-FPD-15, ANKRD …
Seventy-two (50%) patients had IBMFS (telomere biology disorders-32,Fanconi anemia-18, Diamond Blackfan Anemia - 11, congenital neutropenia- …
Type I Interferon Induction in Cutaneous DNA Damage Syndromes.
Klein B, Günther C. Klein B, et al. Front Immunol. 2021 Jul 23;12:715723. doi: 10.3389/fimmu.2021.715723. eCollection 2021. Front Immunol. 2021. PMID: 34381458 Free PMC article. Review.
We review recent publications referring to Ataxia teleangiectasia, Bloom syndrome, Rothmund-Thomson syndrome, Werner syndrome, Huriez syndrome, and Xeroderma pigmentosum. ...
We review recent publications referring to Ataxia teleangiectasia, Bloom syndrome, Rothmund-Thomson syndrome, Werner syndrome, …
A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes.
Shastri VM, Subramanian V, Schmidt KH. Shastri VM, et al. Nucleic Acids Res. 2021 Sep 7;49(15):8699-8713. doi: 10.1093/nar/gkab663. Nucleic Acids Res. 2021. PMID: 34370039 Free PMC article.
The Bloom syndrome DNA helicase BLM contributes to chromosome stability through its roles in double-strand break repair by homologous recombination and DNA replication fork restart during the replication stress response. Loss of BLM activity leads to Bloom …
The Bloom syndrome DNA helicase BLM contributes to chromosome stability through its roles in double-strand break repair by hom …
The catalytic core of Leishmania donovani RECQ helicase unwinds a wide spectrum of DNA substrates and is stimulated by replication protein A.
Shikha K, Sriram Bharath G, Mukhopadhyay S, Chakraborty M, Ghosh S, Khatun S, De D, Gupta AN, Ganguly A. Shikha K, et al. FEBS J. 2022 Jan;289(2):394-416. doi: 10.1111/febs.16153. Epub 2021 Aug 16. FEBS J. 2022. PMID: 34355508 Free article.
Detailed biochemical characterization and comparison of kinetic parameters indicate that L. donovani RECQb shares considerable functional similarity with human Bloom syndrome helicase....
Detailed biochemical characterization and comparison of kinetic parameters indicate that L. donovani RECQb shares considerable functional si …
Considerations for radiotherapy in Bloom Syndrome: A case series.
Schoenaker MHD, Takada S, van Deuren M, Dommering CJ, Henriët SSV, Pico I, Vogel WV, Weemaes CMR, Willemsen MAAP, van der Burg M, Kaanders JHAM. Schoenaker MHD, et al. Eur J Med Genet. 2021 Oct;64(10):104293. doi: 10.1016/j.ejmg.2021.104293. Epub 2021 Aug 2. Eur J Med Genet. 2021. PMID: 34352413 Free article.
Bloom Syndrome (BS) is a genetic DNA repair disorder, caused by mutations in the BLM gene. ...
Bloom Syndrome (BS) is a genetic DNA repair disorder, caused by mutations in the BLM gene. ...
Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex.
Prakash R, Sandoval T, Morati F, Zagelbaum JA, Lim PX, White T, Taylor B, Wang R, Desclos ECB, Sullivan MR, Rein HL, Bernstein KA, Krawczyk PM, Gautier J, Modesti M, Vanoli F, Jasin M. Prakash R, et al. Nat Commun. 2021 Jul 12;12(1):4255. doi: 10.1038/s41467-021-24205-6. Nat Commun. 2021. PMID: 34253720 Free PMC article.
The relevance of these genetic interactions is evident as SWSAP1 loss prolongs Blm-mutant embryo survival, suggesting a possible druggable target for the treatment of Bloom syndrome....
The relevance of these genetic interactions is evident as SWSAP1 loss prolongs Blm-mutant embryo survival, suggesting a possible druggable t …
Case Report: Diabetes in Chinese Bloom Syndrome.
Deng M, Yu M, Jiajue R, Feng K, Xiao X. Deng M, et al. Front Endocrinol (Lausanne). 2021 Jun 9;12:524242. doi: 10.3389/fendo.2021.524242. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34177791 Free PMC article.
Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. ...
Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. ...
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO, Storr HL. Andrews A, et al. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4716-e4733. doi: 10.1210/clinem/dgab437. J Clin Endocrinol Metab. 2021. PMID: 34136918 Free PMC article.
The remaining 35/80 (44%) had diagnoses of 3M syndrome (n = 10) (OBSL1 n = 7, CUL7 n = 2, and CCDC8 n = 1), Noonan syndrome (n = 4) (PTPN11 n = 2, SOS1 n = 1, and SOS2 n = 1), Silver-Russell syndrome (n = 2) (loss of methylation on chromosome 11p15 and uniparental disomy for chro …
The remaining 35/80 (44%) had diagnoses of 3M syndrome (n = 10) (OBSL1 n = 7, CUL7 n = 2, and CCDC8 n = 1), Noonan syndrome (n = 4) (PTPN11 …
Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.
Sybouts EH, Brown AD, Falcon-Cantrill MG, Thomas MH, DeNapoli T, Voeller J, Chen Y, Tomlinson GE, Bishop AJR. Sybouts EH, et al. Cold Spring Harb Mol Case Stud. 2021 Apr 8;7(2):a005751. doi: 10.1101/mcs.a005751. Print 2021 Apr. Cold Spring Harb Mol Case Stud. 2021. PMID: 33832920 Free PMC article.
Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. ...Bloom syndrome occurs in multiple ethnic groups with a higher incidence in persons of Ashkenazi Jewish origin. ...
Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. ...Bloom …
High BLM Expression Predicts Poor Clinical Outcome and Contributes to Malignant Progression in Human Cholangiocarcinoma.
Du X, Zhang C, Yin C, Wang W, Yan X, Xie D, Zheng X, Zheng Q, Li M, Song Z. Du X, et al. Front Oncol. 2021 Mar 22;11:633899. doi: 10.3389/fonc.2021.633899. eCollection 2021. Front Oncol. 2021. PMID: 33828983 Free PMC article.
Then, five candidate hub genes were screened by combining the co-expression network with protein-protein interaction (PPI) network. After progression and survival analyses, bloom syndrome helicase (BLM) was ultimately identified as a real hub gene. ...
Then, five candidate hub genes were screened by combining the co-expression network with protein-protein interaction (PPI) network. After pr …
Functions of BLM Helicase in Cells: Is It Acting Like a Double-Edged Sword?
Kaur E, Agrawal R, Sengupta S. Kaur E, et al. Front Genet. 2021 Mar 12;12:634789. doi: 10.3389/fgene.2021.634789. eCollection 2021. Front Genet. 2021. PMID: 33777104 Free PMC article. Review.
Genetic mutations in the BLM gene cause a rare, autosomal recessive disorder, Bloom syndrome (BS). BS is a monogenic disease characterized by genomic instability, premature aging, predisposition to cancer, immunodeficiency, and pulmonary diseases. ...
Genetic mutations in the BLM gene cause a rare, autosomal recessive disorder, Bloom syndrome (BS). BS is a monogenic disease c …
Inherited skin disorders presenting with poikiloderma.
Rayinda T, van Steensel M, Danarti R. Rayinda T, et al. Int J Dermatol. 2021 Nov;60(11):1343-1353. doi: 10.1111/ijd.15498. Epub 2021 Mar 19. Int J Dermatol. 2021. PMID: 33739439 Review.
Poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikiloderma (HSP), hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), xeroderma pigmentosum (X …
Poikiloderma can be a key presenting symptom of Rothmund-Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikilod …
Bloom syndrome and the underlying causes of genetic instability.
Ababou M. Ababou M. Mol Genet Metab. 2021 May;133(1):35-48. doi: 10.1016/j.ymgme.2021.03.003. Epub 2021 Mar 10. Mol Genet Metab. 2021. PMID: 33736941 Review.
Autosomal hereditary recessive diseases characterized by genetic instability are often associated with cancer predisposition. Bloom syndrome (BS), a rare genetic disorder, with <300 cases reported worldwide, combines both. ...
Autosomal hereditary recessive diseases characterized by genetic instability are often associated with cancer predisposition. Bloom …
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