Webb基因测序发现先证者及其父亲SASH1基因第1外显子存在杂合重复突变c.49_54dupCCCGAG,先证者母亲及健康对照均未发现此突变,且既往文献及基因突变相关数据库中尚未见报道该突变。 结论:SASH1基因c.49_54dupCCCGAG杂合重复突变为导致该家系泛发性雀斑样痣临床表现的致病性突变。 更多 abstracts:
Did you know?
WebbGenes for Dyschromatosis Universalis Hereditaria 1 Sources Variations for Dyschromatosis Universalis Hereditaria 1 Sources Expression for Dyschromatosis Universalis Hereditaria 1 Sources Pathways for Dyschromatosis Universalis Hereditaria 1 Sources GO Terms for Dyschromatosis Universalis Hereditaria 1 Sources WebbGene information about ENSG00000111961 / SASH1 - SAM and SH3 domain containing 1 We use cookies to enhance the usability of our website. If you continue, we'll assume …
http://www.stemcell8.cn/forum.php?mod=viewthread&tid=9108 WebbSASH1. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas …
WebbSASH1. PROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA. SASH1 INFORMATION. Proteini. Full gene name according to HGNC. SAM and SH3 domain … WebbABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mutations in a Chinese family with DUH. Methods Sanger sequencing was performed to investigate the clinical manifestation and molecular genetic basis of these familial cases of DUH, bioinformatics tools and multiple sequence …
• Rimkus C, Martini M, Friederichs J, et al. (2007). "Prognostic significance of downregulated expression of the candidate tumour suppressor gene SASH1 in colon cancer". Br. J. Cancer. 95 (10): 1419–23. doi:10.1038/sj.bjc.6603452. PMC 2360597. PMID 17088907. • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
WebbID Human (hg19) Mouse (mm9) Expression Section Coordinates Bracketing Genes Coordinates Bracketing Genes ; mm456 : chr12:24,912,800-24,914,181 LINC00477-BCAT1 mbe 900 crank no startWebbAs síndromes de câncer hereditário são responsáveis por 5 a 10% de todos os diagnósticos para o câncer. A presença de uma variante patogênica em determinados genes leva a um aumento do risco para o desenvolvimento de vários tipos de câncer. Este exame faz a análise criteriosa em busca de variantes genéticas patogênicas. Variantes … mbe 460 egr coolerWebb10 juni 2024 · SASH1 (SAM and SH3 domain containing 1), a member of the SLY-family of signal adapter proteins, was originally identified as a candidate tumor suppressor gene in solid cancers [ 1 ]. Recently,... mbe48b200bts spec sheetWebb27 okt. 2015 · 作者:Kageaki Kuribayashi1, Kiminori Nakamura1,2, Maki Tanaka1, Tsutomu Sato1, Junji Kato1, Katsunori Sasaki3, Rishu Takimoto1, Katsuhisa Kogawa1, Takeshi Terui ... ,干细胞之家 - 中国干细胞行业门户第一站 mbe900 repairWebb15 feb. 2024 · The results are the first to reveal that this PER3 SNP may be pathogenic for a novel DUH subtype with mild hyperpigmented and/or hypopigmented phenotypes and that mutation of SASH1 and PER3 cooperatively promotes hyperPigmentation phenotypes. Dyschromatosis universalis hereditaria (DUH) is a pigmentary genodermatosis … mbe900 mercedes engine reviewWebbSash1 SAM and SH3 domain containing 1 [ (Norway rat)] Gene ID: 365037, updated on 22-Jan-2024. Summary. Predicted to enable several functions, including G-protein alpha … mbe 8000 appleWebbFollicle-stimulating hormone inhibits cervical cancer via NF-kappaB pathway Xi Shi,1,* Shiwei Qiu,1,* Wei Zhuang,1,* Caiji Wang,1 Shili Zhang,1 Na Yuan,1 Fukang Yuan,2 Yuehua Qiao1 1The Institute of Audiology and Speech Science of Xuzhou Medical College, Xuzhou 221002, People’s Republic of China; 2Department of Vascular Surgery of Xuzhou Central … mbead