Results 1 to 10 of about 1,703,111 (346)

Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient

Pediatric Investigation, 2020
Introduction Congenital ichthyosiform erythroderma (CIE ) is characterized by fine, whitish scales on a background of erythematous skin over the whole body; it is reportedly caused by mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1 ...
Zhou Yang, Zhan Qi, Zhe Xu, Wei Li, Lin Ma   +4 more
doaj   +1 more source

Case report: ALK D1225N missense mutation in lung adenocarcinoma responds to tyrosine kinase inhibitors

Frontiers in Pharmacology, 2023
ALK gene missense mutations are conventionally considered non-driver mutations without pathological significance, and therefore, there is a lack of effective target drugs against them.
Jianxin Chen, Junhui Wang
doaj   +1 more source

Identification of 22 novel mutations in patients with Glanzmann's thrombasthenia [PDF]

, 2008
Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited platelet function defect that characterized by reduction in, or absence of, platelet aggregation in response to multiple physiologic agonists. GT is characterized by normal platelet
Abdul Ethayathulla, Birendra Yadav, Firdos Ahmad, Meganathan Kannan, Rajive Kumar, Renu Saxena, Ved Choudhry   +6 more
core   +1 more source

Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations [PDF]

, 2016
PURPOSE: Predicting the phenotypic effects of mutations has become an important application in clinical genetic diagnostics. Computational tools evaluate the behavior of the variant over evolutionary time and assume that variations seen during the course
Alexander O. Reznik, CA Wassif, Daniel S. Ory, DE Sleat, DM Jordan, F Chang, FD Porter, GR Oliver, H Börnig, H Jahnova, HJ Kwon, HR Davis Jr, IA Adzhubei, Igor B. Zhulin, JA Tennessen, JD Retief, JE Dickerson, JM White, K Katoh, KA King, M Lynch, M Stampfer, MC Patterson, MT Vanier, MT Vanier, MT Vanier, NO Stitziel, O Adebali, Ogun Adebali, PC Ng, PC Ng, RD Finn, S Castellana, S Guindon, S Nusca, SB Ng, SF Altschul, SH Katsanis, SR Sunyaev, U Omasits, X Jiang, X Yan, Y Choi, Z Wang   +43 more
core   +3 more sources

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]

, 2019
Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony, Donaldson, Kevin, Emrick, Lisa, Gao, Mingshi, Hou, Ya-Ming, Jiang, Yanjun, Lalani, Seema R., Landsverk, Megan L., Lee, Sansan, Lewis, Andrea M., Li, Meixia, Li, Yuxin, Lin, Jie, Lu, Jiahong, Luo, Sushan, Magoulas, Pilar L., Mei, Hui, Niu, Zhiyv, Oprescu, Stephanie N., Person, Richard E., Rosenfeld, Jill A., Slavin, Thomas P., Song, Jie, Sun, Chong, Walkiewicz, Magdalena, Wang, Yin, Xi, Jianying, Yang, Yaping, Zhang, Victor W., Zhao, Chongbo   +29 more
core   +1 more source

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

CanDrA: Cancer-Specific Driver Missense Mutation Annotation with Optimized Features

PLoS ONE, 2013
Driver mutations are somatic mutations that provide growth advantage to tumor cells, while passenger mutations are those not functionally related to oncogenesis.
Yong Mao, Han Chen, Han Liang, F. Meric-Bernstam, G. Mills, Ken Chen   +5 more
semanticscholar   +1 more source

Structural Bioinformatics Survey on Disease-inducing Missense Mutations [PDF]

Journal of Bioinformatics and Computational Biology, 2020
Understanding the molecular mechanisms that correlate pathologies with missense mutations is of critical importance for disease risk estimations and for devising personalized therapies. Thus, we have performed a bioinformatic survey of ClinVar, a database of human genomic variations, to find signals that can account for missense mutation pathogenicity.
Pietro Bongini, Simone Gardini, Monica Bianchini, Ottavia Spiga, Neri Niccolai   +4 more
openaire   +3 more sources

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

BMC Pediatrics, 2021
Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants
Qingyun Kang, Liming Yang, Hongmei Liao, Sai Yang, Xiaojun Kuang, Zeshu Ning, Caishi Liao, Bo Chen   +7 more
doaj   +1 more source

Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation. [PDF]

, 2018
Adenomatoid tumors are the most common neoplasm of the epididymis, and histologically similar adenomatoid tumors also commonly arise in the uterus and fallopian tube.
Bastian, Boris C, Garg, Karuna, Goode, Benjamin, Grenert, James P, Joseph, Nancy M, Onodera, Courtney, Phillips, Joanna J, Rabban, Joseph T, Solomon, David A, Stevers, Meredith, Talevich, Eric, Van Ziffle, Jessica, Yeh, Iwei, Zaloudek, Charles   +13 more
core   +1 more source