Results 11 to 20 of about 9,190 (179)

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

Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non‐coding sequence variant of PPP1R12A

Molecular Genetics & Genomic Medicine, 2023
Background Genitourinary and/or brain malformation syndrome (GUBS) is a recently discovered syndrome involving abnormalities of the neurological or urogenital system. PPP1R12A may be the pathological gene causing this syndrome.
Yanxia Diao, Weiwei Sun, Zhen Zhang, Bing Zhao, Xin Chen   +4 more
doaj   +1 more source

Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disorders

Frontiers in Molecular Neuroscience, 2022
ObjectiveAccording to a recent report, the mutation of transcription factor gene BCL11B is associated with the development of neurodevelopmental disorders and immune deficiency.
Fengyu Che, Xiaoling Tie, Hong Lei, Xi Zhang, Mingyue Duan, Liyu Zhang, Ying Yang   +6 more
doaj   +1 more source

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

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

Case report: Clinical and genetic analysis of a family with nonsyndromic auditory neuropathy

Frontiers in Pediatrics, 2022
BackgroundAuditory neuropathy (AN) is a hearing disorder caused by the failure of inner hair cells, auditory nerve synapses and/or auditory nerves.
Lan Jiang, Hongen Xu, Danhua Liu, Sen Zhang, Ying Xu   +4 more
doaj   +1 more source

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

The identification of a novel splicing mutation in the DMD gene of a Chinese family

Clinical Case Reports, 2021
The proband is a five‐year‐old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal.
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +1 more source

Function of an Ultrabithorax minigene in imaginal cells [PDF]

Development, 1992
Abstract An Ultrabithorax (Ubx) minigene constructed from three key Ubx control regions is capable of supporting development of Ubx null mutants throughout larval life and beyond to pharate flies, thereby rescuing the larval lethality due to the homeotic mutation.
J, Castelli-Gair, J, Müller, M, Bienz
openaire   +2 more sources

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