Results 71 to 80 of about 154,476 (163)

A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant

Orthopaedic Surgery
Background Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities. Following radiological diagnosis, further genetic testing is conducted to confirm the mutant loci and identify the subtype of SCD.
Haoyu Cai, Xu'an Huang, Haojie Chen, Junduo Zhao, Heng Sun, Yizhen Huang, Jiayue Guo, Jianxiong Shen   +7 more
doaj   +1 more source

A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.

PLoS ONE, 2017
ObjectiveN-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD).
Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H Shaulsky, Chun Hu, Stephen F Traynelis, Hongjie Yuan, Yuwu Jiang   +11 more
doaj   +1 more source

LIS1 Missense Mutations [PDF]

Journal of Biological Chemistry, 2003
Michal Caspi, Frédéric M. Coquelle, Cynthia Koifman, Talia Levy, Hiroyuki Arai, Junken Aoki, Jan R. De Mey, Orly Reiner   +7 more
openaire   +1 more source

Missense Mutation [PDF]

, 2019
openaire   +3 more sources

Prevalence of the Pro12Ala missense mutation in the PPARG2 gene in Kuwaiti patients with primary knee osteoarthritis

Annals of Saudi Medicine, 2011
Background and Objectives: Peroxisome proliferator-activated receptors (PPARs) play an important role in a number of cellular and metabolic functions. This study was carried out to determine the prevalence of a missense mutation (Pro12Ala) in the PPARG2 ...
Al-Jarallah Khaled, Shehab Diaa, Haider Mohammad   +2 more
doaj  

Missense Mutation [PDF]

, 2020
openaire   +1 more source

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize the phenotype and genotype of a family of Becker muscular dystrophy (BMD) caused by a novel missense mutation of DMD gene. Methods and Results Clinical data of one BMD proband and the family members were collected.
Yun-qing GAO, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG   +8 more
doaj  

WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype. [PDF]

Orphanet J Rare Dis
Huang M, Wei Q, Qin Y, Qin L, Shao Y, Wang S, Qu X, Yang T, Zhang M.   +8 more
europepmc   +1 more source

LHCGR Missense Mutation [PDF]

, 2020
openaire   +1 more source

Erratum: Biofunctional study on chemoresistance in esophageal squamous carcinoma cells induced by missense mutation of <i>NOTCH1 p.E450K</i>. [PDF]

J Thorac Dis
Editorial Office.
europepmc   +1 more source