Results 41 to 50 of about 6,757 (149)

Functional Characterization of HGD Gene Variants by Minigene Splicing Assay

International Journal of Molecular Sciences
The HGD gene encodes homogentisate 1,2-dioxygenase. A deficiency of this enzyme causes alkaptonuria (AKU; OMIM 203500), a monogenic autosomal recessive metabolic disorder. The global incidence of alkaptonuria is estimated at 1 in 250,000 to 1,000,000 live births.
Andrey Nekrasov, Elza Shchukina, Beatrisa Rimskaya, Ekaterina Zakharova   +3 more
openaire   +2 more sources

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing

Orphanet Journal of Rare Diseases, 2021
Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu   +5 more
doaj   +1 more source

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

Deltacoronavirus Modulates circRNA cGLIS3 Metabolism to Evade Host Antiviral Response

Advanced Science, EarlyView.
This study reveals that both deltacoronavirus nucleocapsid protein and host RNA binding protein IGF2BP2 promote circular RNA GLIS3 (cGLIS3) biogenesis by binding to GLIS3 pre‐mRNA. The m6A modification‐mediated cGLIS3‐IGF2BP2 interaction weakens RNase L‐mediated degradation of cGLIS3 while facilitates a ubiquitin‐dependent degradation of IGF2BP2, thus ...
Liuyang Du, Liping Wang, Sujing Diao, Juan Li, Lei Zhao, Yan Yan, Haimin Li, Weiren Dong, Wei Wu, Jinyan Gu, Jiyong Zhou   +10 more
wiley   +1 more source

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

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

Artificial Intelligence for Identifying Tumor‐Reactive CD8+ T Cells: Biological Principles, Computational Advances, and Future Directions

Med Research, EarlyView.
This review details a three‐stage paradigm shift for tumor‐reactive CD8+ T‐cell identification: decoding transcriptomic states, deciphering clonal functional efficacy, and molecular‐level therapeutic TCR design. Addressing translational hurdles and generative AI “scientific blind spots”—such as missing catch bonds—we present a visionary roadmap.
Chao Yang, Yingying Sun, Yan Zhang, Yifen Shi, Zhiwen Shi   +4 more
wiley   +1 more source

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay [PDF]

British Journal of Dermatology, 2011
SummaryBackground Congenital atrichia is a rare autosomal recessive form of isolated alopecia which is caused by mutations in the human hairless (HR) gene. Patients are born with normal hair that is shed almost completely and irreversibly during the first weeks of life.Objectives To investigate the molecular genetic basis of congenital atrichia in two ...
Refke, M., Pasternack, S.M., Fiebig, B., Wenzel, S., Ishorst, N., Ludwig, M., Nothen, Markus, Seijger, M.M.B., Hamel, B.C.J., Betz, R.C.   +9 more
openaire   +3 more sources

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

Molecular Genetics & Genomic Medicine, 2023
AbstractBackgroundGitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which variants disrupt normal pre‐mRNA splicing, has been related to a variety of diseases.
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao   +10 more
openaire   +3 more sources

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay

Frontiers in Genetics, 2019
ObjectiveArgininosuccinate lyase (ASL) gene mutations account for argininosuccinic aciduria (ASA). This study aimed to design a minigene construct of ASL gene in order to investigate the impact of variants on splicing.MethodsThe peripheral blood samples ...
Yanyun Wang, Yun Sun, Ming Liu, Xiaojuan Zhang, Tao Jiang, Tao Jiang   +5 more
doaj   +1 more source