Results 31 to 40 of about 806,334 (155)

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

PLoS ONE, 2012
Sandhoff disease (SD) is a lysosomal disorder caused by mutations in the HEXB gene. To date, 43 mutations of HEXB have been described, including 3 large deletions.
Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis   +15 more
doaj   +1 more source

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series

BMC Nephrology, 2021
Background Alport syndrome (AS), which is a rare hereditary disease caused by mutations of genes including COL4A3, COL4A4 and COL4A5, has a wide spectrum of phenotypes.
Jing Wu, Jun Zhang, Li Liu, Bo Zhang, Tomohiko Yamamura, Kandai Nozu, Masafumi Matsuo, Jinghong Zhao   +7 more
doaj   +1 more source

RBM25 Drives Hepatocellular Carcinoma Progression by Stabilizing YAP Through Regulating Oncogenic Splicing‐switch of MYPT1

Advanced Science, EarlyView.
This study establishes that the RBM25‐PRPF40A interaction modulates MYPT1 splicing, promoting the production of the oncogenic long isoform. This isoform stabilizes YAP by suppressing its phosphorylation and subsequent proteasomal degradation, ultimately accelerating tumor growth.
Wenjing Zhang, Lili Zhi, Tian Huang, Lingya Feng, Chaoqun Chen, Huanhuan Wei, Xiaolong Liu, Lei Chen, Jinrui Zhang, Ge Zhang, Baofeng Zhao, Rong Liu, Dan Chen, Yangfan Qi, Yang Wang   +14 more
wiley   +1 more source

SOD-1 minigene construct.

, 2014
(A) The SOD-1 minigene contains the fourth and fifth exons of the SOD-1 gene and intervening intron. The intron was reduced to 250 nucleotides after the central 845 nucleotides were eliminated by PCR.
Josh Nichols (605767), Walt F. Lima (449545), Timothy A. Vickers (605766), Cheryl Li (605768), Stanley T. Crooke (449546)   +4 more
core   +1 more source

A novel homozygous ARFGEF2 splice-site variant causing periventricular nodular heterotopia with microcephaly

Frontiers in Pediatrics
BackgroundThe ARFGEF2 gene encodes the brefeldin A (BFA)-inhibited GEF2 protein (BIG2), which is distributed in the trans-Golgi network and plays a crucial role in neuronal proliferation and migration during cortical development through its regulation of
Xuefang Liu, Xuefang Liu, Xuefang Liu, Lingyu Pang, Lingyu Pang, Lingyu Pang, Jingjie Li, Jingjie Li, Jingjie Li, Jing Zhang, Jing Zhang, Jing Zhang, Wenjuan Wu, Wenjuan Wu, Wenjuan Wu, Xin Li, Xin Li, Xin Li, Yubing Gong, Yubing Gong, Yubing Gong, Yueying Dou, Yueying Dou, Yueying Dou, Fang Chen, Fang Chen, Fang Chen, Suzhen Sun, Suzhen Sun, Suzhen Sun   +29 more
doaj   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome

Frontiers in Cardiovascular Medicine, 2021
Brugada syndrome (BrS) is a complexly genetically patterned, rare, malignant, life-threatening arrhythmia disorder. It is autosomal dominant in most cases and characterized by identifiable electrocardiographic patterns, recurrent syncope, nocturnal ...
Meng Yuan, Yi Guo, Hong Xia, Hongbo Xu, Hao Deng, Hao Deng, Hao Deng, Lamei Yuan, Lamei Yuan, Lamei Yuan   +9 more
doaj   +1 more source

Hyperactive KIF5A in Neurodegeneration

Cytoskeleton, EarlyView.
ABSTRACT The highly polarised morphology of neurons and the sheer length of their axons make transport of cargoes throughout the cell a formidable task. Decades of evidence obtained from genetic studies on patients and animal models highlight deficits in axonal transport as a recurrent cause, or early contributing factor, in a plethora of ...
David Villarroel‐Campos, James N. Sleigh   +1 more
wiley   +1 more source

High-throughput identification of deep intronic splice-disrupting variants using a massively parallel minigene splicing assay

, 2023
A rare disease is defined as those that affect fewer than 1 in 2,000 individuals. There are about 7,000 rare diseases, which more than 90% of them have no treatment and 50-75% affects children.
Martinez Bengochea, Anabel Lee, Younger, Scott T, Means, John C   +2 more
core  

A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F

Molecular Genetics & Genomic Medicine
Objective Variants of the proto‐cadherin 15 (PCDH15) gene are related to Usher syndrome type 1F (USH1F). The purpose of this study was to determine the genetic etiology of a USH1F family in China and to perform a minigene assay for the PCDH15 gene to ...
Qifan Ma, Chenyang Xu, Xueqin Xu, Yanbao Xiang   +3 more
doaj   +1 more source