Zobrazeno 1 - 10
of 1 277
pro vyhledávání: '"dbSNP"'
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-24 (2022)
Abstract Background Single nucleotide polymorphism (SNP) variants are abundant, persistent and widely distributed across the genome and are frequently linked to the development of genetic diseases. Identifying SNPs that underpin complex diseases can
Externí odkaz:
https://doaj.org/article/bfe3f497fccb4a82be2246159b48e737
Autor:
Hisako Sugimoto, Takuro Horii, Jun-Na Hirota, Yoshitake Sano, Yo Shinoda, Ayumu Konno, Hirokazu Hirai, Yasuki Ishizaki, Hajime Hirase, Izuho Hatada, Teiichi Furuichi, Tetsushi Sadakata
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract The HapMap Project is a major international research effort to construct a resource to facilitate the discovery of relationships between human genetic variations and health and disease. The Ser19Stop single nucleotide polymorphism (SNP) of h
Externí odkaz:
https://doaj.org/article/a3dea4b032d6409185ddd1ede8e42850
Publikováno v:
BMC Medical Genomics, Vol 12, Iss S6, Pp 1-10 (2019)
Abstract Background Perturbed posttranslational modification (PTM) landscapes commonly cause pathological phenotypes. The Cancer Genome Atlas (TCGA) project profiles thousands of tumors allowing the identification of spontaneous cancer-driving mutati
Externí odkaz:
https://doaj.org/article/3d76bc9912ad46f3bed54e6a8d181d69
Autor:
Dipankor Chatterjee, Umar Faruq Chowdhury, Mohammad Umer Sharif Shohan, Md Mohasin, Yearul Kabir
Publikováno v:
Informatics in Medicine Unlocked, Vol 26, Iss , Pp 100728- (2021)
Ephrin type-A receptor 3 (EPHA3) is a receptor tyrosine kinase involved in many biological functions, including migration, adhesion, and so on. Dysregulation of the EPHA3 receptor gene can lead to various oncogenic events, such as prostate cancer and
Externí odkaz:
https://doaj.org/article/d6ec5a738c9646a29e8f6e7f3c919c4d
Publikováno v:
BMC Bioinformatics, Vol 18, Iss 1, Pp 1-10 (2017)
Abstract Background In the search for novel causal mutations, public and/or private variant databases are nearly always used to facilitate the search as they result in a massive reduction of putative variants in one step. Practically, variant filteri
Externí odkaz:
https://doaj.org/article/8a643cf1f73545c8a803ecfe88746328
Publikováno v:
Biomolecules, Vol 11, Iss 11, p 1733 (2021)
Single nucleotide polymorphisms (SNPs) help to understand the phenotypic variations in humans. Genome-wide association studies (GWAS) have identified SNPs located in the tumor protein 63 (TP63) locus to be associated with the genetic susceptibility o
Externí odkaz:
https://doaj.org/article/28a9703c0e554456a2840af475bf0921
Publikováno v:
Journal of Clinical Sleep Medicine. 18:1215-1218
We present a patient with chronic insomnia resistant to traditional pharmacologic (e.g., sedative-hypnotics) and nonpharmacologic (e.g. cognitive behavioral therapy for insomnia; CBT-I) therapy. A finding of elevated serum homocysteine triggered a wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6628e1ff05d56e24f9735d7a3bf0e97a
https://doi.org/10.5664/jcsm.9794
https://doi.org/10.5664/jcsm.9794
Autor:
April Shen, Paul Flicek, Andres F Silva, Baron Koylass, Gary Saunders, Fiona Cunningham, Nitin Kumar, Sundararaman Venkataraman, Helen Parkinson, Sarah E. Hunt, Kirill Tsukanov, Timothe Cezard, Thomas M. Keane
Publikováno v:
Nucleic Acids Research
The European Variation Archive (EVA; https://www.ebi.ac.uk/eva/) is a resource for sharing all types of genetic variation data (SNPs, indels, and structural variants) for all species. The EVA was created in 2014 to provide FAIR access to genetic vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e77377ad5746b8597022ceb96fc6fbf
https://doi.org/10.1093/nar/gkab960
https://doi.org/10.1093/nar/gkab960
Autor:
Naif Al-Zahrani, Walid Dridi, Hakon Hakonarson, Patrick M. A. Sleiman, Talal Al-Harbi, Haya Al-Rammah, Yichuan Liu
Publikováno v:
American Journal of Medical Genetics Part A. 188:618-623
We report a 38-year-old Saudi male with Ehlers-Danlos Syndrome (EDS). The patient presented with rare and unusual neurological manifestations, including but not limited to ophthalmoplegia and myopathic pattern on his electromyography. In addition to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::603f4b100a2871c4efe9656427b09f97
https://doi.org/10.1002/ajmg.a.62539
https://doi.org/10.1002/ajmg.a.62539
Autor:
Min Chen, Xin Ni, Jie Zhang, Jie Lu, Yongli Guo, Huimin Ren, Yaqiong Jin, Yeran Yang, Shujing Han, Yongbo Yu, Ping Chu, Wei Liu
Publikováno v:
Pediatric Investigation, Vol 5, Iss 3, Pp 211-216 (2021)
Pediatric Investigation
Pediatric Investigation
Importance First branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level. Objective To identify geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59fc3d953eaca1e5831e4fea03df63cc
https://doaj.org/article/b30e3bcf87c64738ba8163c17aed03dd
https://doaj.org/article/b30e3bcf87c64738ba8163c17aed03dd