Results 171 to 180 of about 1,544,422 (378)

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. [PDF]

, 2015
PurposeTo report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD).MethodsSlit-lamp examination was performed on the probands and available
Aldave, Anthony J, Chen, Judy L, Chung, Duk-Won D, Deng, Sophie X, Frausto, Ricardo F, Gee, Jessica A, Gee, Katherine M, Lin, Benjamin R   +7 more
core   +1 more source

Homozygous missense mutation Arg207Cys in the WEE2 gene causes female infertility and fertilization failure

Journal of Assisted Reproduction and Genetics, 2019
Xiaoyu Yang, Li Shu, Ling-bo Cai, Xue-ping Sun, Yugui Cui, Jiayin Liu   +5 more
semanticscholar   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +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

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

Annals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar1, Alexey I. Nesvizhskii, Michael D. Uhler, Jack M. Parent, Yu Wang   +7 more
wiley   +1 more source

Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). [PDF]

, 2001
Voltage-gated potassium channels provide tightly Controlled, ion-specific pathways across membranes and are key to the normal function of nerves muscles. They arise from the assembly of four pore-forming proteins called alpha-subunits.
Abbott, GW, Goldstein, SA
core  

A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.

, 2020
C S Choong, C A Quigley, F S French, E M Wilson   +3 more
openalex   +1 more source

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  

Temperature sensitive Mutant Proteome Profiling: a novel tool for the characterization of the global impact of missense mutations on the proteome [PDF]

, 2019
Sarah A. Peck Justice, Guihong Qi, H. R. Sagara Wijeratne, José Victorino, Edward Simpson, Aruna Wijeratne, Amber L. Mosley   +6 more
openalex   +1 more source