Results 141 to 150 of about 255,701 (284)

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  

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy [PDF]

, 2003
Umrao R. Monani, Matthew Pastore, Tatiana Gavrilina, Sibylle Jablonka, Thanh T. Le, Catia Andreassi, Jennifer M. DiCocco, Christian L. Lorson, Elliot J. Androphy, Michael Sendtner, Michael Podell, Arthur H.M. Burghes   +11 more
openalex   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome [PDF]

, 2010
E. van Riel, Margreet G.E.M. Ausems, Frans B.L. Hogervorst, Irma Kluijt, Mariëlle van Gijn, J. van Echtelt, Karen C. Scheidel-Jacobse, Eric F. A. M. Hennekam, Rein P. Stulp, Yvonne J. Vos, G. Johan A. Offerhaus, Fred H. Menko, Gilles Thomas   +12 more
openalex   +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

Glucokinase Thermolability and Hepatic Regulatory Protein Binding Are Essential Factors for Predicting the Blood Glucose Phenotype of Missense Mutations

, 2007
Maria F. Pino, Kyoung‐Ah Kim, Kathy D. Shelton, J Lindner, Stella Odili, Changhong Li, Heather W. Collins, Masakazu Shiota, Franz M. Matschinsky, Mark A. Magnuson   +9 more
openalex   +1 more source

A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility [PDF]

, 2017
Tailai Chen, Yuehong Bian, Xiaoman Liu, Shigang Zhao, Keliang Wu, Lei Yan, Mei Li, Zhenglin Yang, Hongbin Liu, Han Zhao, Zi‐Jiang Chen   +10 more
openalex   +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

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

Familial intracranial arachnoid cysts with a missense mutation (c.2576C > T) in RERE

, 2018
Yubo Wang, Jiayue Cui, Xiaowei Qin, Xinyu Hong   +3 more
openalex   +1 more source