Results 11 to 20 of about 11,911 (175)

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis. [PDF]

Mol Genet Genomic Med
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Liu Q, Cheng X, Zheng B, Wang C, Zhou W, Zhang A.   +5 more
europepmc   +2 more sources

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene

Molecular Genetics & Genomic Medicine, 2023
Barth syndrome (BTHS) is an X‐linked disorder characterized by cardiomyopathy, skeletal myopathy, and 3‐methylglutaconic aciduria. The causative pathogenic variants for BTHS are in TAZ, which encodes a putative acyltransferase named tafazzin and is ...
Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo   +12 more
doaj   +1 more source

Effects of a Common Eight Base Pairs Duplication at the Exon 7-Intron 7 Junction on Splicing, Expression, and Function of OCT1

Frontiers in Pharmacology, 2021
Organic cation transporter 1 (OCT1, SLC22A1) is localized in the sinusoidal membrane of human hepatocytes and mediates hepatic uptake of weakly basic or cationic drugs and endogenous compounds. Common amino acid substitutions in OCT1 were associated with
Sarah Römer, Marleen J. Meyer, Kathrin Klein, Kathrin Klein, Lennart V. Schneider, Johannes Matthaei, Ana Tzvetkova, Ana Tzvetkova, Joanna Łapczuk-Romańska, Jochen Gaedcke, Marek Droździk, Jürgen Brockmöller, Anne T. Nies, Anne T. Nies, Anne T. Nies, Mladen V. Tzvetkov   +15 more
doaj   +1 more source

Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness

Frontiers in Genetics, 2021
Splice site mutations contribute to a significant portion of the genetic causes for mendelian disorders including deafness. By next-generation sequencing of 4 multiplex, autosomal dominant families and 2 simplex, autosomal recessive families with ...
Penghui Chen, Penghui Chen, Penghui Chen, Penghui Chen, Longhao Wang, Longhao Wang, Longhao Wang, Yongchuan Chai, Yongchuan Chai, Yongchuan Chai, Hao Wu, Hao Wu, Hao Wu, Tao Yang, Tao Yang, Tao Yang   +15 more
doaj   +1 more source

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome

Frontiers in Medicine, 2022
X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.
Tomohiko Yamamura, Tomohiko Yamamura, Tomoko Horinouchi, Yuya Aoto, Rachel Lennon, Rachel Lennon, Kandai Nozu   +6 more
doaj   +1 more source

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

HGG Advances, 2022
Summary: Predicting the pathogenicity of acceptor splice-site variants outside the essential AG is challenging, due to high sequence diversity of the extended splice-site region. Critical analysis of 24,445 intronic extended acceptor splice-site variants
Samantha J. Bryen, Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K. Lu, Kristi J. Jones, Christina Liang, Wui-Kwan Wong, Anthony J. Peduto, Leigh B. Waddell, Frances J. Evesson, Sandra T. Cooper   +12 more
doaj   +1 more source

Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants [PDF]

, 2022
PALB2 loss-of-function variants are associated with significant increased risk of breast cancer as well as other types of tumors. Likewise, splicing disruptions are a common mechanism of disease susceptibility.
Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Valenzuela-Palomo, Alberto, Miguel de la Hoya, Eladio A. Velasco-Sampedro, Llinares-Burguet, Inés, Velasco-Sampedro, Eladio A, Susana Gómez-Barrero, Gómez-Barrero, Susana, Inés Llinares-Burguet, Bueno-Martínez, Elena, Velasco, Eladio, Sanoguera-Miralles, Lara, García-Álvarez, Alicia, Alicia García-Álvarez, Velasco-Sampedro, Eladio A., Pérez-Segura, Pedro, de la Hoya, Miguel, Lara Sanoguera-Miralles, Ada Esteban-Sánchez, Pedro Pérez-Segura, Esteban-Sánchez, Ada, Hoya, Miguel de la   +22 more
core   +2 more sources

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Frontiers in Genetics, 2018
Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult.
Olatz Villate, Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada   +11 more
doaj   +1 more source

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

Frontiers in Genetics, 2020
A large fraction of DNA variants impairs pre-mRNA splicing in human hereditary disorders. Crigler-Najjar syndrome (CNS) is characterized by a severe unconjugated hyperbilirubinemia caused by variants in the UGT1A1 gene.
Linda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Dmitrijs Rots, Madara Kreile, Eladio A. Velasco   +5 more
doaj   +1 more source

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

Frontiers in Genetics, 2022
Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G > T (NM_001844.4) of COL2A1 in a Chinese family with SEDC by targeted next-generation
Lihong Fan, Longfei Ji, Yuqing Xu, Guosong Shen, Kefeng Tang, Zhi Li, Sisi Ye, Xueping Shen   +7 more
doaj   +1 more source