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Page 1
MYH13, a superfast myosin expressed in extraocular, laryngeal and syringeal muscles.
Schiaffino S, Hughes SM, Murgia M, Reggiani C. Schiaffino S, et al. J Physiol. 2024 Feb;602(3):427-443. doi: 10.1113/JP285714. Epub 2023 Dec 31. J Physiol. 2024. PMID: 38160435
The MYH13 gene is located at the 3' end of the mammalian fast/developmental gene cluster and in a similar position to the orthologous cluster in syntenic regions of the songbird genome. MYH13 gene regulation is controlled by a super-enhancer in the mammalian locus a …
The MYH13 gene is located at the 3' end of the mammalian fast/developmental gene cluster and in a similar position to the orthologous …
The superfast extraocular myosin (MYH13) is localized to the innervation zone in both the global and orbital layers of rabbit extraocular muscle.
Briggs MM, Schachat F. Briggs MM, et al. J Exp Biol. 2002 Oct;205(Pt 20):3133-42. doi: 10.1242/jeb.205.20.3133. J Exp Biol. 2002. PMID: 12235193
They express the entire array of striated muscle myosins, including a specialized myosin heavy chain MYH13, which is restricted to extraocular and laryngeal muscles. ...Many individual fibers express MYH13 with the fast IIb myosin and varying amounts of IIx myosin. …
They express the entire array of striated muscle myosins, including a specialized myosin heavy chain MYH13, which is restricted to ex …
A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus.
Yang HW, Lee S, Berry BC, Yang D, Zheng S, Carroll RS, Park PJ, Johnson MD. Yang HW, et al. Proc Natl Acad Sci U S A. 2023 Dec 19;120(51):e2300681120. doi: 10.1073/pnas.2300681120. Epub 2023 Dec 15. Proc Natl Acad Sci U S A. 2023. PMID: 38100419 Free PMC article.
Here, we identify mutations affecting nine additional genes (AK9, RXFP2, PRKD1, HAVCR1, OTOG, MYO7A, NOTCH1, SPG11, and MYH13) that are statistically enriched among iNPH patients. The encoded proteins are all highly expressed in choroid plexus and ependymal cells, and most …
Here, we identify mutations affecting nine additional genes (AK9, RXFP2, PRKD1, HAVCR1, OTOG, MYO7A, NOTCH1, SPG11, and MYH13) that a …
Phylogenetic implications of the superfast myosin in extraocular muscles.
Schachat F, Briggs MM. Schachat F, et al. J Exp Biol. 2002 Aug;205(Pt 15):2189-201. doi: 10.1242/jeb.205.15.2189. J Exp Biol. 2002. PMID: 12110653
Comparison of cDNA sequences reveals that MYH13 also encodes the atypical MYH identified in laryngeal muscles, which have similar fast contractile properties. ...Specifically, these studies indicate (i) that the extraocular myosin is not derived from the adult fast skeleta …
Comparison of cDNA sequences reveals that MYH13 also encodes the atypical MYH identified in laryngeal muscles, which have similar fas …
Genome-wide association study of stage III/IV grade C periodontitis (former aggressive periodontitis) in a Spanish population.
de Coo A, Cruz R, Quintela I, Herrera D, Sanz M, Diz P, Rodríguez Grandío S, Vallcorba N, Ramos I, Oteo A, Serrano C, Esmatges A, Enrile F, Mateos L, García R, Álvarez-Novoa P, Noguerol B, Zabalegui I, Blanco-Moreno J, Alonso Á, Lorenzo R, Carracedo A, Blanco J. de Coo A, et al. J Clin Periodontol. 2021 Jul;48(7):896-906. doi: 10.1111/jcpe.13460. Epub 2021 Apr 19. J Clin Periodontol. 2021. PMID: 33745150
However, 8 SNPs of 8 loci reached suggestive evidence of association with PIII/IV-C, including FAT3 rs35709256, CSNK1G2 rs4807188, MYH13 rs2074872, CNTN2 rs116611488, ANTXR1 rs4854545, 8p23.2 rs78672540, ANGPT1 rs13439823 and PLEC rs11993287 (p < 5 10(-6) ). ...
However, 8 SNPs of 8 loci reached suggestive evidence of association with PIII/IV-C, including FAT3 rs35709256, CSNK1G2 rs4807188, MYH13 …
A study combining whole-exome sequencing and structural neuroimaging analysis for major depressive disorder.
Han KM, Han MR, Kim A, Kang W, Kang Y, Kang J, Tae WS, Cho Y, Ham BJ. Han KM, et al. J Affect Disord. 2020 Feb 1;262:31-39. doi: 10.1016/j.jad.2019.10.039. Epub 2019 Oct 31. J Affect Disord. 2020. PMID: 31706157
RESULTS: We identified recurrent non-silent variants in 24 MDD-related genes including FASN, MYH13, UNC13D, LILRA1, CACNA1B, TRIO, HOMER3, and BCAR3, and observed eleven recurrently altered copy number alternations where a gain on 15q11.2 and losses on 7q34 and 15q11.1-q11 …
RESULTS: We identified recurrent non-silent variants in 24 MDD-related genes including FASN, MYH13, UNC13D, LILRA1, CACNA1B, TRIO, HO …
Genes associated with bowel metastases in ovarian cancer.
Mariani A, Wang C, Oberg AL, Riska SM, Torres M, Kumka J, Multinu F, Sagar G, Roy D, Jung DB, Zhang Q, Grassi T, Visscher DW, Patel VP, Jin L, Staub JK, Cliby WA, Weroha SJ, Kalli KR, Hartmann LC, Kaufmann SH, Goode EL, Shridhar V. Mariani A, et al. Gynecol Oncol. 2019 Sep;154(3):495-504. doi: 10.1016/j.ygyno.2019.06.010. Epub 2019 Jun 14. Gynecol Oncol. 2019. PMID: 31204077 Free PMC article.
RESULTS: Among 27 DEGs in the discovery set, 21 were confirmed in the replication set: SFRP2, Col11A1, LRRC15, ADAM12, ADAMTS12, MFAP5, LUM, PLPP4, FAP, POSTN, GRP, MMP11, MMP13, C1QTNF3, EPYC, DIO2, KCNA1, NETO1, NTM, MYH13, and PVALB. Higher expression of more than half …
RESULTS: Among 27 DEGs in the discovery set, 21 were confirmed in the replication set: SFRP2, Col11A1, LRRC15, ADAM12, ADAMTS12, MFAP5, LUM, …
Assessment of Alzheimer's disease case-control associations using family-based methods.
Schjeide BM, McQueen MB, Mullin K, DiVito J, Hogan MF, Parkinson M, Hooli B, Lange C, Blacker D, Tanzi RE, Bertram L. Schjeide BM, et al. Neurogenetics. 2009 Feb;10(1):19-25. doi: 10.1007/s10048-008-0151-3. Epub 2008 Oct 2. Neurogenetics. 2009. PMID: 18830724 Free PMC article.
In this study, we tested 27 genes (ACE, BDNF, CH25H, CHRNB2, CST3, CTSD, DAPK1, GALP, hCG2039140, IL1B, LMNA, LOC439999, LOC651924, MAPT, MTHFR, MYH13, PCK1, PGBD1, PRNP, PSEN1, SORCS1, SORL1, TF, TFAM, TNK1, GWA_14q32.13, and GWA_7p15.2), all showing significant associati …
In this study, we tested 27 genes (ACE, BDNF, CH25H, CHRNB2, CST3, CTSD, DAPK1, GALP, hCG2039140, IL1B, LMNA, LOC439999, LOC651924, MAPT, MT …
Updated Genome-Wide Association Study of Intracranial Aneurysms by Genotype Correction and Imputation in Koreans.
Hong EP, Kim BJ, Youn DH, Lee JJ, Jeon HJ, Choi HJ, Cho YJ, Jeon JP; First Korean Stroke Genetics Association Research (The FirstKSGAR) Study. Hong EP, et al. World Neurosurg. 2022 Oct;166:e109-e117. doi: 10.1016/j.wneu.2022.06.113. Epub 2022 Jul 2. World Neurosurg. 2022. PMID: 35792225
The rs2440154 (SLC47A1, 17p11.2) SNP increased the risk of IA most significantly (odds ratio, 2.90; 95% confidence interval, 2.07-4.08; P = 8.2 10(-10)). The region encompassing rs3826442 (MYH13, 17p13.1) showed a high recombination rate of approximately 70 cM/Mbp. ...
The rs2440154 (SLC47A1, 17p11.2) SNP increased the risk of IA most significantly (odds ratio, 2.90; 95% confidence interval, 2.07-4.08; P = …
28 results