Results 191 to 200 of about 240,775 (234)

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

Molecular Characterization and Functional Insights into Goose IGF2BP2 During Skeletal Muscle Development. [PDF]

Animals (Basel)
Wang C, Liu Y, Dai J, Chen S, He D.
europepmc   +1 more source

C/EBPα is Essential for Gonadal but Not Inguinal White Adipose Tissue Formation in Mice

Obesity, EarlyView.
Human genetics has linked the gene CEBPA to waist to hip ratio and adipose distribution. We generated mice with AdipoQ‐Cre driven deletion of Cebpa and found these mice to have a specific reduction in gonadal white adipose tissue and myriad other metabolic phenotypes.
Krista Y. Hu, Yu‐Lin Ma, Esme A. Dodge, Olivia A. B. Maguire, Caio V. Matias, Ryan P. Barney, Hector S. Himede, Juliana Gomez Pardo, Miriam Cepeda, Scott M. Gordon, Robert C. Bauer   +10 more
wiley   +1 more source

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome

The Journal of Pathology, EarlyView.
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi, Yu Huang, Xiaohuan Su, Lisheng Yu, Yixin Zhao, Jing Cheng   +5 more
wiley   +1 more source

A New Class of Pathogenic Non-Coding Variants in GLA. [PDF]

Int J Mol Sci
Yuan Y, Zhang X, Ling C, Zhao Y, Yu M, Wang Z, Yuan Y, Xie Z, Zhang W.   +8 more
europepmc   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Molecular insights into dynamic RNA quaternary assemblies. [PDF]

RNA Biol
Huang Z, Lin W, Wang L, Su Z.
europepmc   +1 more source

Resolving haplotypes of the glucose-6-phosphate dehydrogenase gene using long-range polymerase chain reaction and Oxford Nanopore sequencing. [PDF]

Biol Methods Protoc
Chamchoy K, Jacob BAC, Boonyuen U.
europepmc   +1 more source