Results 201 to 210 of about 1,544,422 (378)

Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

Current Protocols in Human Genetics, 2013
I. Adzhubei, D. Jordan, S. Sunyaev
semanticscholar   +1 more source

pilQ Missense Mutations Have Diverse Effects on PilQ Multimer Formation, Piliation, and Pilus Function in Neisseria gonorrhoeae

, 2007
R. Allen Helm, Michelle M. Barnhart, H. Steven Seifert   +2 more
openalex   +1 more source

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients [PDF]

, 1992
Orna Levran, Desnick Rj, EH Schuchman
openalex   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

Proceedings of the National Academy of Sciences of the United States of America, 2015
L. K. Myrick, P. Deng, H. Hashimoto, Y. M. Oh, Yongcheol Cho, Mickael Poidevin, Joshua A. Suhl, J. Visootsak, V. Cavalli, P. Jin, Xiaodong Cheng, S. Warren, V. Klyachko   +12 more
semanticscholar   +1 more source

CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants [PDF]

, 2020
Lingxin Zhang, Vivekananda Sarangi, Irene Moon, Jia Yu, Duan Liu, Sandhya Devarajan, Joel M. Reid, Krishna R. Kalari, Liewei Wang, Richard M. Weinshilboum   +9 more
openalex   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.

Journal of the American Society of Nephrology, 2015
G. Hall, R. Gbadegesin, P. Lavin, Guanghong Wu, Yangfan P. Liu, Edwin C. T. Oh, Liming Wang, R. Spurney, Jason Eckel, Thomas Lindsey, Alison Homstad, Andrew F. Malone, P. Phelan, A. Shaw, D. Howell, P. Conlon, N. Katsanis, M. Winn   +17 more
semanticscholar   +1 more source

Supplementary Table S4 from Analytic, Preanalytic, and Clinical Validation of p53 IHC for Detection of <i>TP53</i> Missense Mutation in Prostate Cancer

, 2023
Liana B. Guedes, Fawaz Almutairi, Michael C. Haffner, Gaurav Rajoria, Zach Liu, Szczepan Klimek, Roberto Zoino, Kasra Yousefi, Rajni Sharma, Angelo M. De Marzo, George J. Netto, William B. Isaacs, Ashley E. Ross, Edward M. Schaeffer, Tamara L. Lotan   +14 more
openalex   +1 more source