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Year Number of Results
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2,341 results

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Page 1
Electrophoretic mobility shift assay (EMSA) for detecting protein-nucleic acid interactions.
Hellman LM, Fried MG. Hellman LM, et al. Nat Protoc. 2007;2(8):1849-61. doi: 10.1038/nprot.2007.249. Nat Protoc. 2007. PMID: 17703195 Free PMC article.
A representative protocol is provided and commonly used variants are discussed. Expected outcomes are briefly described. References to extensions of the method and a troubleshooting guide are provided....
A representative protocol is provided and commonly used variants are discussed. Expected outcomes are briefly described. References t …
Genetic architecture of the structural connectome.
Wainberg M, Forde NJ, Mansour S, Kerrebijn I, Medland SE, Hawco C, Tripathy SJ. Wainberg M, et al. Nat Commun. 2024 Mar 4;15(1):1962. doi: 10.1038/s41467-024-46023-2. Nat Commun. 2024. PMID: 38438384 Free PMC article.
We identify 30 independent genome-wide significant variants after Bonferroni correction for the number of measures studied (126 variants at nominal genome-wide significance) implicating genes involved in myelination (SEMA3A), neurite elongation and guidance ( …
We identify 30 independent genome-wide significant variants after Bonferroni correction for the number of measures studied (126 va …
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B. Louvrier C, et al. Neuro Oncol. 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009. Neuro Oncol. 2018. PMID: 29409008 Free PMC article.
Potentially pathogenic variants were found in 12/65 (18.5%) patients with no clearly established diagnosis. A LZTR1 variant was identified in 16/47 (34%) NF2/SMARCB1-negative schwannomatosis patients. A SMARCE1 variant was found in 3/39 (8%) meningiomatosis p …
Potentially pathogenic variants were found in 12/65 (18.5%) patients with no clearly established diagnosis. A LZTR1 variant wa …
Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.
Nishii R, Baskin-Doerfler R, Yang W, Oak N, Zhao X, Yang W, Hoshitsuki K, Bloom M, Verbist K, Burns M, Li Z, Lin TN, Qian M, Moriyama T, Gastier-Foster JM, Rabin KR, Raetz E, Mullighan C, Pui CH, Yeoh AE, Zhang J, Metzger ML, Klco JM, Hunger SP, Newman S, Wu G, Loh ML, Nichols KE, Yang JJ. Nishii R, et al. Blood. 2021 Jan 21;137(3):364-373. doi: 10.1182/blood.2020006164. Blood. 2021. PMID: 32693409 Free PMC article.
To understand the influence of ETV6 variation on ALL pathogenesis, we comprehensively characterized a cohort of 32 childhood leukemia cases arising from this rare syndrome. Of 34 nonsynonymous germline ETV6 variants in ALL, we identified 22 variants with impaired tr …
To understand the influence of ETV6 variation on ALL pathogenesis, we comprehensively characterized a cohort of 32 childhood leukemia cases …
Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.
Ghorbani F, de Boer EN, Fokkens MR, de Boer-Bergsma J, Verschuuren-Bemelmans CC, Wierenga E, Kasaei H, Noordermeer D, Verbeek DS, Westers H, van Diemen CC. Ghorbani F, et al. Int J Mol Sci. 2024 Oct 18;25(20):11205. doi: 10.3390/ijms252011205. Int J Mol Sci. 2024. PMID: 39456985 Free PMC article.
Increasing evidence suggests that variations in the enhancer regions of genes involved in neurodegenerative disorders can also cause disease. Since the enhancers of SCA genes are not yet known, it remains to be determined whether variations in these regions are a ca …
Increasing evidence suggests that variations in the enhancer regions of genes involved in neurodegenerative disorders can also cause …
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.
Onore ME, Caiazza M, Farina A, Scarano G, Budillon A, Borrelli RN, Limongelli G, Nigro V, Piluso G. Onore ME, et al. Genes (Basel). 2023 Dec 25;15(1):32. doi: 10.3390/genes15010032. Genes (Basel). 2023. PMID: 38254922 Free PMC article.
In 2001, PTPN11 was identified as the first Noonan syndrome gene and is responsible for the majority of Noonan syndrome cases. Over the years, several other genes involved in Noonan syndrome (KRAS, SOS1, RAF1, MAP2K1, BRAF, NRAS, RIT1, and LZTR1) have been identified, acti …
In 2001, PTPN11 was identified as the first Noonan syndrome gene and is responsible for the majority of Noonan syndrome cases. Over the year …
Engineering a PAM-flexible SpdCas9 variant as a universal gene repressor.
Wang J, Teng Y, Zhang R, Wu Y, Lou L, Zou Y, Li M, Xie ZR, Yan Y. Wang J, et al. Nat Commun. 2021 Nov 25;12(1):6916. doi: 10.1038/s41467-021-27290-9. Nat Commun. 2021. PMID: 34824292 Free PMC article.
Here, to repurpose SpCas9 as a universal gene repressor, we generate and screen variants of the deactivated SpCas9 (SpdCas9) with relaxed 5'-CAT-3' PAM compatibility that can bind to the start codon ATG of almost any gene. ...This work validates the feasibility of p …
Here, to repurpose SpCas9 as a universal gene repressor, we generate and screen variants of the deactivated SpCas9 (SpdCas9) w …
ASXL1/TET2 genotype-based risk stratification outperforms ASXL1 mutational impact and is independent of mutant variant allele fractions in chronic myelomonocytic leukemia.
Csizmar CM, Gurney M, Kanagal-Shamanna R, Chien K, Hammond D, Lasho TL, Finke CM, Dean C, Natu A, Mangaonkar AA, Al-Kali A, Gangat N, Tefferi A, Alkhateeb H, Garcia-Manero G, Komrokji RS, Ali NA, Padron E, Montalban-Bravo G, Patnaik MM. Csizmar CM, et al. Haematologica. 2024 Oct 1;109(10):3419-3425. doi: 10.3324/haematol.2024.285410. Haematologica. 2024. PMID: 38899337 Free PMC article. No abstract available.
Hematopoietic transcription factor mutations: important players in inherited platelet defects.
Songdej N, Rao AK. Songdej N, et al. Blood. 2017 May 25;129(21):2873-2881. doi: 10.1182/blood-2016-11-709881. Epub 2017 Apr 17. Blood. 2017. PMID: 28416505 Free PMC article. Review.
The hematopoietic TFs implicated in patients with impaired platelet function and number include runt-related transcription factor 1, Fli-1 proto-oncogene, E-twenty-six (ETS) transcription factor (friend leukemia integration 1), GATA-binding protein 1, growth factor independent 1B …
The hematopoietic TFs implicated in patients with impaired platelet function and number include runt-related transcription factor 1, Fli-1 p …
Genetic Modifiers of Sickle Cell Anemia Phenotype in a Cohort of Angolan Children.
Ginete C, Delgadinho M, Santos B, Miranda A, Silva C, Guerreiro P, Chimusa ER, Brito M. Ginete C, et al. Genes (Basel). 2024 Apr 8;15(4):469. doi: 10.3390/genes15040469. Genes (Basel). 2024. PMID: 38674403 Free PMC article.
The aim of this study was to identify genetic markers in the HBB Cluster; HBS1L-MYB intergenic region; and BCL11A, KLF1, FOX3, and ZBTB7A genes associated with the heterogeneous phenotypes of Sickle Cell Anemia (SCA) using next-generation sequencing, as well as to assess t …
The aim of this study was to identify genetic markers in the HBB Cluster; HBS1L-MYB intergenic region; and BCL11A, KLF1, FOX3, and ZBTB7A …
2,341 results