Results 11 to 20 of about 714,611 (262)

missense mutation

, 2021
OBJECTIVE: Fibroblast growth factor homologous factors (FHFs) are brain and cardiac sodium channel binding proteins that modulate channel density and inactivation gating.
Glenn I. Fishman, Vasilisa Iatckova, Jana Velíšková, Libor Velíšek, Xie, Ying, Iatckova, Vasilisa, Shekhar, Akshay, Akshay Shekhar, Fishman, Glenn I., Yue Liu, Velíšková, Jana, Velíšek, Libor, Goldfarb, Mitchell, Park, David S., Mitchell Goldfarb, David S. Park, Marra, Christopher, Liu, Yue, Ying Xie, Park, David S, Fishman, Glenn I, Christopher Marra   +21 more
core   +1 more source

Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma

Pifu-xingbing zhenliaoxue zazhi, 2023
Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome
Yongfeng YAO, Zhijie LUO, Zeqiao ZHANG, Fang YANG   +3 more
doaj   +1 more source

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To study the clinical features and gene mutations of early-onset epileptic encephalopathy (EOEE) and to explore the application in pathogenic diagnosis of EOEE by next generation sequencing. Methods The clinical data of 68 cases diagnosed with
Xiao-jun LIU, Pei-yuan ZHANG, Mei-fang LEI, Xin-ping WEI, Xiao-li YU, Dong LI, Jian-bo SHU, Chun-quan CAI, Yu-qin ZHANG   +8 more
doaj   +1 more source

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts [PDF]

, 2003
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.
Basak, A, Hilal, L., Cherif Chefchaouni, M., Slingsby, Christine, Hajaji, Y, Basak, Ajit K., Arbogast, L., Abitbol, Marc, M, Nandrot, E., Cherif-Chefchaouni, M, Benazzouz, B, Boutayeb, S, Boutayeb, S., Berraho, A., Hilal, Latifa, Abitbol, M., Arbogast, Laurence, Hajaji, Y., Gribouval, O., Benazzouz, B., Abitbol, Marc,, Nandrot, Emeline, Gribouval, Olivier   +22 more
core   +1 more source

Mutation testing on an object-oriented framework: An experience report [PDF]

, 2011
This is the preprint version of the article - Copyright @ 2011 ElsevierContext The increasing presence of Object-Oriented (OO) programs in industrial systems is progressively drawing the attention of mutation researchers toward this paradigm.
Sergio Segura, Segura, S, Benavides, D, Antonio Ruiz-Cortés, Ruiz Cortés, Antonio, Segura Rueda, Sergio, Robert M. Hierons, Benavides Cuevas, David Felipe, Hierons, Robert M., David Benavides, Hierons, RM, Ruiz-Cortes, A   +11 more
core   +1 more source

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. [PDF]

PLoS Genetics, 2008
The functional consequences of missense variants in disease genes are difficult to predict. We assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer ...
Nic Waddell, Anette Ten Haaf, Anna Marsh, Julie Johnson, Logan C Walker, kConfab Investigators, Milena Gongora, Melissa Brown, Piyush Grover, Mark Girolami, Sean Grimmond, Georgia Chenevix-Trench, Amanda B Spurdle   +12 more
doaj   +1 more source

The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]

, 2013
Frontotemporal lobar degeneration (FTLD) is the one of the most frequent neurodegenerative disorders characterized by behavioral and executive impairment, language disorders and motor dysfunction.
Holton, Janice L., Tammaryn Lashley, Treacy, Rebecca, Laura Calo, Michel Goedert, Parmar, Malin,, Muqit, Miratul M. K., Janice L. Holton, Revesz, Tamas, Lashley, Tammaryn, Mariangela Iovino, Tamas Revesz, Robert J. Swingler, Pfisterer, Ulrich, Swingler, Robert J., Malin Parmar, Maria Grazia Spillantini, Calo, Laura, Ulrich Pfisterer, Miratul M. K. Muqit, Parmar, Malin, Spillantini, Maria Grazia, Iovino, Mariangela, Pfisterer, Ulrich,, Lund University., Iovino, Mariaangela, Goedert, Michel, Rebecca Treacy   +27 more
core   +1 more source

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma

Journal of Translational Medicine, 2023
Background Although the molecular features of pancreatic ductal adenocarcinoma (PDAC) have been well described, the impact of detailed gene mutation subtypes on disease progression remained unclear.
Yiran Zhou, Jiabin Jin, Yuchen Ji, Jiaqiang Zhang, Ningzhen Fu, Mengmin Chen, Jun Wang, Kai Qin, Yu Jiang, Dongfeng Cheng, Xiaxing Deng, Baiyong Shen   +11 more
doaj   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio-based Whole-Exome Sequencing. [PDF]

Adv Sci (Weinh)
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Zhou Q, Huang J, Wang Y, Li X, Liu X, Dai L, Li H, Wang Q, Liu J, Su G, Zhang W, Deng Y, Cao Q, Lai Y, Luo X, Huang C, Chen L, Hou S, Yang P.   +18 more
europepmc   +2 more sources

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Graw, Jochen, Illig, T., Billingsley, G., Wjst, M., Graw, J., Rudolph, G., Klopp, N., Heon, E., Klopp, N.;Heon, E.;Billingsley, G.;Illig, T.;Wjst, M.;Rudolph, G.;Graw, J.   +8 more
core   +1 more source