Results 11 to 20 of about 6,757 (149)

Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay [PDF]

BMC Medical Genomics
Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA)
Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao   +8 more
doaj   +4 more sources

Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients [PDF]

Journal of Cellular and Molecular Medicine, 2017
AbstractBardet–Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare diseases belonging to the group of ciliopathies. Although mutational screening studies of BBS/ALMS cohorts have been extensively reported, little is known about the functional effect of those changes.
Sheila Castro-Sánchez, Diana Valverde
exaly   +4 more sources

Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene. [PDF]

Mol Genet Genomic Med
A novel pathogenic splicing variant (TCF4c.1146+3A>T) was identified in a fetus with increased nuchal translucency. The variant disrupts normal splicing, causing exon 14 skipping and protein truncation, which is consistent with Pitt–Hopkins Syndrome.
Shen W, Zhang Y, Wu J, Zhao J, Lv Y, Tang X.   +5 more
europepmc   +2 more sources

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients [PDF]

Molecular Genetics & Genomic Medicine
Background Ornithine transcarbamylase deficiency (OTCD, MIM#311250) is a rare X‐linked urea cycle disorder causing hyperammonemia. While around 600 pathogenic OTC variants have been reported, cryptic changes like synonymous or in‐frame variants remain ...
Qingming Wang, Huimin Xiao, Fang Zhang, Hui Li, Juan Zhao, Haiming Yuan   +5 more
doaj   +2 more sources

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays

Biomedicines
Background/Objectives: Hereditary hearing loss (HHL) is a genetically heterogeneous condition, involving more than 150 genes in non-syndromic cases and associated with over 400 distinct disorders in syndromic forms.
Lara Emily Rosso, Giulia Pianigiani, Anna Morgan, Elisa Rubinato, Elisa Paccagnella, Stefania Lenarduzzi, Anita Wischmeijer, Beatrice Spedicati, Giorgia Girotto   +8 more
doaj   +4 more sources

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay. [PDF]

Front Genet, 2020
Familial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants. However, there is growing evidence that some of these variants can be detrimental by affecting the pre-mRNA splicing process.
Wang S, Wang Y, Wang J, Liu Z, Zhang R, Shi X, Han Y, Guo W, Bottillo I, Shao L.   +9 more
europepmc   +5 more sources

Functional Evaluation of PKD1 Intronic Variants by Minigene Assays

Kidney International Reports
Seon Hoo Youn, Boram Kim, Hayne Cho Park, Yong Chul Kim, Eun Hui Bae, Yun Kyu Oh, Joo won Jang, Seung Won Chae, Jee-Soo Lee, Moon-Woo Seong   +9 more
doaj   +3 more sources

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay. [PDF]

Front Genet, 2022
Background: Bartter syndrome (BS) is a rare renal tubular disease caused by gene variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND or MAGED2 genes. There is growing evidence that many exonic mutations can affect the pre-mRNA normal splicing and induce exon skipping by altering various splicing regulatory signals.
Xin Q, Liu Q, Liu Z, Shi X, Liu X, Zhang R, Hong Y, Zhao X, Shao L.   +8 more
europepmc   +4 more sources

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants. [PDF]

Cancers (Basel), 2021
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the NF1 gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular analysis remains important. NF1 displays allelic heterogeneity, with a high proportion of variants affecting splicing, including ...
Morbidoni V, Baschiera E, Forzan M, Fumini V, Ali DS, Giorgi G, Buson L, Desbats MA, Cassina M, Clementi M, Salviati L, Trevisson E.   +11 more
europepmc   +3 more sources

Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay. [PDF]

BMC Genomics, 2023
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene. There is increasing evidence that some of these variants, which are described as missense, synonymous or nonsense mutations in the literature or ...
Liu X, Shi X, Xin Q, Liu Z, Pan F, Qiao D, Chen M, Zhang Y, Guo W, Li C, Zhang Y, Shao L, Zhang R.   +12 more
europepmc   +4 more sources