Results 121 to 130 of about 6,757 (149)

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome. [PDF]

CEN Case Rep
Nagano C, Aoyama S, Kimura Y, Inoki Y, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Nozu K.   +8 more
europepmc   +1 more source

A novel HBD gene mutation associated with normal-range hb A2 in β-thalassemia carriers. [PDF]

Ann Hematol
Zhang L, Yang J, Li X, Liu Y, Liu C, Duan S, Zhang L, Liu W, Chang M.   +8 more
europepmc   +1 more source

Pathogenic Analysis of Two <i>SLC22A5</i> Variants That Alter RNA Splicing in Patients with Primary Carnitine Deficiency. [PDF]

Int J Neonatal Screen
Lin Y, Chen Y, Lin W, Zheng F.
europepmc   +1 more source

Identification and functional analysis of a novel <i>TRAPPC2</i> intronic variant in a four-generation Chinese pedigree with SEDT. [PDF]

Front Genet
Lyu Y, Xu W, Xu B, Tang X, Xiao M, Lan X, Yang Y, Song X, Wu S.   +8 more
europepmc   +1 more source

Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study. [PDF]

Front Med (Lausanne)
Liu L, Du H, Wang N, Lv S, Yu C, Deng L.
europepmc   +1 more source

Novel Compound Heterozygous Variants in <i>CDH3</i> Cause Congenital Hypotrichosis with Juvenile Macular Dystrophy: A Case Report with Longitudinal Imaging and Functional Validation. [PDF]

Case Rep Ophthalmol
Lin Y, Yu P, Cui S, Xiong S, Zhou Y, Chen Y, Lin J.   +6 more
europepmc   +1 more source

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Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay

Journal of Human Genetics, 2022
As BRCA1/2 gene sequencing become more extensive, a large number VUS (variants of uncertain significance) emerge rapidly. Verifying the splicing effect is an effective means for VUS reclassification. The Minigene Assay platform was established and its reliability was verified in this article.
Zhouhuan, Dong, Yun, Wang, Jing, Zhang, Fengwei, Zhu, Zhiyuan, Liu, Yajun, Kang, Mingyuan, Lin, Huaiyin, Shi   +7 more
openaire   +2 more sources

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

Molecular Biology Reports, 2014
Mutations in the chloride channel gene CLCN1 cause the allelic disorders Thomsen (dominant) and Becker (recessive) myotonia congenita (MC). The encoded protein, ClC-1, is the primary channel that mediates chloride (Cl-) conductance in skeletal muscle.
Stefania Corti, Nereo Bresolin, Francesca Magri   +2 more
exaly   +3 more sources

Splicing analysis of 26 F8 nucleotide variations using a minigene assay

Haemophilia, 2019
BackgroundClassically, the study of splicing impact of variation located near the splice site is performed by both in silico and mRNA analysis. However, RNA sample was rarely available.ObjectiveTo characterize a panel of putative haemophilia A splicing variations.Materials and methodsTwenty‐six F8 variations identified from a cohort of 2075 haemophilia
Yohann Jourdy, Mathilde Fretigny, Christophe Nougier, Claude Négrier, Dominique Bozon, Christine Vinciguerra   +5 more
openaire   +2 more sources

Intronic variants of SLC26A4 gene enhance splicing efficiency in hybrid minigene assay

Gene, 2017
The SLC26A4 genomic sequence screening in autoimmune thyroid diseases (AITD) revealed different variants types with possible pathogenic effects. Although intronic variants may have more detrimental effects than those coding, they are poorly explored. Thus, in a first assessment, our bioinformatics analysis of intronic variants predicted a pathogenic ...
Rihab, Kallel-Bouattour, Salima, Belguith-Maalej, Emna, Zouari-Bradai, Mouna, Mnif, Mohamed, Abid, Hassen, Hadj Kacem   +5 more
openaire   +2 more sources