Results 171 to 180 of about 255,701 (284)

CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia. [PDF]

Genes (Basel)
Nariman A, Nikoo MH, Sarrafzadegan N, Zibanejad MJ, Jervekani ZT, Daliri K, Tabatabaiefar MA.   +6 more
europepmc   +1 more source

Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders [PDF]

, 2019
Maria Marín, Marı́a José Ramı́rez, Miriam Aza‐Carmona, Nan Jia, Tomoo Ogi, Massimo Bogliolo, Jordi Surrallés   +6 more
openalex   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the <i>FBN1</i> Gene

, 2022
Takahiro Motonaga, Yuji Ohnishi, Seigo Okada, Yasuo Suzuki, Takashi Furuta, Mai Kawamura, Naoko Okayama, Yutaka Suehiro, Shunji Hasegawa   +8 more
openalex   +2 more sources

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

Long QT interval syndrome type 2 caused by a new missense mutation of KCNH2 gene: A case report. [PDF]

Medicine (Baltimore)
Ma Y, Wang L, Wu S, Peng C.
europepmc   +1 more source

Reviewer #2 (Public Review): Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms

, 2023

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

A recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2. [PDF]

Anim Genet
Fuller AM, Davidson C, Petersen JL.
europepmc   +1 more source