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The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
Chang S, Yim S, Park H. Chang S, et al. Exp Mol Med. 2019 Jun 20;51(6):1-17. doi: 10.1038/s12276-019-0230-6. Exp Mol Med. 2019. PMID: 31221981 Free PMC article. Review.
Recent studies on mutations in cancer genomes have distinguished driver mutations from passenger mutations, which occur as byproducts of cancer development. The cancer genome atlas (TCGA) project identified 299 genes and 24 pathways/biological processes that …
Recent studies on mutations in cancer genomes have distinguished driver mutations from passenger mutations, which occur as byproducts …
Analysis in epithelial ovarian cancer identifies KANSL1 as a biomarker and target gene for immune response and HDAC inhibition.
Fejzo MS, Chen HW, Anderson L, McDermott MS, Karlan B, Konecny GE, Slamon DJ. Fejzo MS, et al. Gynecol Oncol. 2021 Feb;160(2):539-546. doi: 10.1016/j.ygyno.2020.11.008. Epub 2020 Nov 20. Gynecol Oncol. 2021. PMID: 33229045
OBJECTIVE: There is an immunoreactive subtype of ovarian cancer with a favorable prognosis, but the majority of ovarian cancers have limited immune reactivity. ...Future research should investigate KANSL1 and determine whether targeting it alters the immune p …
OBJECTIVE: There is an immunoreactive subtype of ovarian cancer with a favorable prognosis, but the majority of ovarian cancers …
The KAT6B::KANSL1 Fusion Defines a New Uterine Sarcoma With Hybrid Endometrial Stromal Tumor and Smooth Muscle Tumor Features.
Trecourt A, Azmani R, Hostein I, Blanchard L, Le Loarer F, Bourdon A, Alame M, Nadaud B, Mayer L, Rebier F, Larmonier C, Moura MS, Soubeyran I, Hartog C, Ray-Coquard I, Treilleux I, Devouassoux-Shisheboran M, Croce S. Trecourt A, et al. Mod Pathol. 2023 Oct;36(10):100243. doi: 10.1016/j.modpat.2023.100243. Epub 2023 Jun 10. Mod Pathol. 2023. PMID: 37307879
Neoplasms harboring a KAT6B/A::KANSL1 fusion were initially reported as benign (leiomyomas) and malignant (leiomyosarcomas, low-grade endometrial stromal sarcomas [LG-ESSs]) uterine neoplasms. ...Array comparative genomic hybridization performed on 10 tumors …
Neoplasms harboring a KAT6B/A::KANSL1 fusion were initially reported as benign (leiomyomas) and malignant (leiomyosarcomas, lo …
Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping With Low-grade Endometrial Stromal Sarcoma.
Agaimy A, Clarke BA, Kolin DL, Lee CH, Lee JC, McCluggage WG, Pöschke P, Stoehr R, Swanson D, Turashvili G, Beckmann MW, Hartmann A, Antonescu CR, Dickson BC. Agaimy A, et al. Am J Surg Pathol. 2022 Sep 1;46(9):1298-1308. doi: 10.1097/PAS.0000000000001915. Epub 2022 May 17. Am J Surg Pathol. 2022. PMID: 35575789 Free PMC article.
With the widespread application of next-generation sequencing, the genetic landscape of uterine mesenchymal neoplasms has been evolving rapidly to include several recently identified fusion genes. ...We herein describe 13 uterine stromal neoplasms carrying a KAT6B:: …
With the widespread application of next-generation sequencing, the genetic landscape of uterine mesenchymal neoplasms has been evolvi …
Novel KAT6B-KANSL1 fusion gene identified by RNA sequencing in retroperitoneal leiomyoma with t(10;17)(q22;q21).
Panagopoulos I, Gorunova L, Bjerkehagen B, Heim S. Panagopoulos I, et al. PLoS One. 2015 Jan 26;10(1):e0117010. doi: 10.1371/journal.pone.0117010. eCollection 2015. PLoS One. 2015. PMID: 25621995 Free PMC article.
The KAT6B-KANSL1 fusion transcript consists of exons 1 to 3 of KAT6B and exons 11 to 15 of KANSL1, is 3667 bp long, has a 1398 bp long open reading frame, and codes for a 466 amino acid residue protein. The corresponding KAT6B-KANSL1 protein contains the NEMM …
The KAT6B-KANSL1 fusion transcript consists of exons 1 to 3 of KAT6B and exons 11 to 15 of KANSL1, is 3667 bp long, has a 1398 …
MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters.
Wang D, Li H, Chandel NS, Dou Y, Yi R. Wang D, et al. Nat Commun. 2023 Jul 21;14(1):4404. doi: 10.1038/s41467-023-40108-0. Nat Commun. 2023. PMID: 37479688 Free PMC article.
Here we show that conditional deletion of Mof in the skin, but not Kansl1, causes severe defects in the self-renewal of basal epithelial progenitors, epidermal differentiation, and hair follicle growth, resulting in barrier defects and perinatal lethality. ...
Here we show that conditional deletion of Mof in the skin, but not Kansl1, causes severe defects in the self-renewal of basal epithel …
Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.
Willems SM, Wright DJ, Day FR, Trajanoska K, Joshi PK, Morris JA, Matteini AM, Garton FC, Grarup N, Oskolkov N, Thalamuthu A, Mangino M, Liu J, Demirkan A, Lek M, Xu L, Wang G, Oldmeadow C, Gaulton KJ, Lotta LA, Miyamoto-Mikami E, Rivas MA, White T, Loh PR, Aadahl M, Amin N, Attia JR, Austin K, Benyamin B, Brage S, Cheng YC, Cięszczyk P, Derave W, Eriksson KF, Eynon N, Linneberg A, Lucia A, Massidda M, Mitchell BD, Miyachi M, Murakami H, Padmanabhan S, Pandey A, Papadimitriou I, Rajpal DK, Sale C, Schnurr TM, Sessa F, Shrine N, Tobin MD, Varley I, Wain LV, Wray NR, Lindgren CM, MacArthur DG, Waterworth DM, McCarthy MI, Pedersen O, Khaw KT, Kiel DP; GEFOS Any-Type of Fracture Consortium; Pitsiladis Y, Fuku N, Franks PW, North KN, van Duijn CM, Mather KA, Hansen T, Hansson O, Spector T, Murabito JM, Richards JB, Rivadeneira F, Langenberg C, Perry JRB, Wareham NJ, Scott RA. Willems SM, et al. Nat Commun. 2017 Jul 12;8:16015. doi: 10.1038/ncomms16015. Nat Commun. 2017. PMID: 29313844 Free PMC article.
A number of these loci contain genes implicated in structure and function of skeletal muscle fibres (ACTG1), neuronal maintenance and signal transduction (PEX14, TGFA, SYT1), or monogenic syndromes with involvement of psychomotor impairment (PEX14, LRPPRC and KANSL1). Mend …
A number of these loci contain genes implicated in structure and function of skeletal muscle fibres (ACTG1), neuronal maintenance and signal …
CRISPR-Cas9 knockout screen identifies novel treatment targets in childhood high-grade glioma.
Wenger A, Karlsson I, Kling T, Carén H. Wenger A, et al. Clin Epigenetics. 2023 May 9;15(1):80. doi: 10.1186/s13148-023-01498-6. Clin Epigenetics. 2023. PMID: 37161535 Free PMC article.
BACKGROUND: Brain tumours are the leading cause of cancer-related death in children, and there is no effective treatment. ...Cancer stem cells (CSC) are implicated in tumour development, relapse and therapy resistance and thus particularly important to target. ...
BACKGROUND: Brain tumours are the leading cause of cancer-related death in children, and there is no effective treatment. ...Cance …
Identification of a t(X;17)(q28;q21) generating a KANSL1-MTCP1 gene fusion leading to dysregulated expression of MTCP1 in acute myeloid leukemia.
Li SX, Chen XJ, Jiang L, Lei YC, Zhang YX, Dai B, Zhang WN, Zhong ML, Fan YL, Chen QS, Liu H, Huang JY, Chen B. Li SX, et al. Genes Chromosomes Cancer. 2020 Jul;59(7):417-421. doi: 10.1002/gcc.22840. Epub 2020 Mar 20. Genes Chromosomes Cancer. 2020. PMID: 32167630
In this study, we identified a novel t(X;17)(q28;q21) chromosomal rearrangement in a patient with acute monocytic leukemia. Using RNA-sequencing, we identified a KANSL1-MTCP1 and a KANSL1-CMC4 fusion gene. 5'-UTR sequences of the KANSL1 gene were found to bec …
In this study, we identified a novel t(X;17)(q28;q21) chromosomal rearrangement in a patient with acute monocytic leukemia. Using RNA-sequen …
Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.
Boujemaa M, Hamdi Y, Mejri N, Romdhane L, Ghedira K, Bouaziz H, El Benna H, Labidi S, Dallali H, Jaidane O, Ben Nasr S, Haddaoui A, Rahal K, Abdelhak S, Boussen H, Boubaker MS. Boujemaa M, et al. PLoS One. 2021 Jan 27;16(1):e0245362. doi: 10.1371/journal.pone.0245362. eCollection 2021. PLoS One. 2021. PMID: 33503040 Free PMC article.
Hereditary breast cancer accounts for 5-10% of all breast cancer cases. So far, known genetic risk factors account for only 50% of the breast cancer genetic component and almost a quarter of hereditary cases are carriers of pathogenic mutations in BRCA1/2 gen …
Hereditary breast cancer accounts for 5-10% of all breast cancer cases. So far, known genetic risk factors account for only 50 …
26 results