Results 21 to 30 of about 11,911 (175)

A affects RNA splicing in a minigene assay

, 2021
Background Both Pierson syndrome (PS) and isolated nephrotic syndrome can be caused by LAMB2 biallelic pathogenic variants. Only 15 causative splicing variants in the LAMB2 gene have been reported. However, the pathogenicity of most of these variants has
Huijie Xiao, Yali Ren, Baige Su, Jie Ding, Fang Wang, Xiaoyuan Wang   +5 more
core   +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

A Novel Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention [PDF]

Clinical and Experimental Otorhinolaryngology
Objectives Branchio-oto syndrome (BOS) is an autosomal dominant disorder characterized by multiple system anomalies, typically sparing the kidneys. BOS exhibits considerable clinical heterogeneity and ethnic variability; most studies have been conducted ...
Anhai Chen, Lu Jiang, Zequn Nie, Jian Song, Chufeng He, Lingyun Mei, Yalan Liu   +6 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

A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome

Frontiers in Pediatrics, 2023
BackgroundX-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.The aim of this study was to identify gene mutations in a Chinese family with ...
Pei Qian, Ying Bao, Hui-mei Huang, Lei Suo, Yan Han, Zhi-juan Li, Min Zhang   +6 more
doaj   +1 more source

Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants

Frontiers in Genetics, 2023
The PAX6 gene plays an important role in ocular development. Mutations of the PAX6 gene may result in a series of ocular abnormalities, including congenital aniridia, anterior segment dysgenesis (ASD), progressive corneal opacification, glaucoma, and ...
Lijuan Huang, Lijuan Huang, Jiajia Peng, Yan Xie, Yunyu Zhou, Xiaolin Wang, Hui Wang, Jingang Gui, Ningdong Li, Ningdong Li, Ningdong Li, Ningdong Li   +11 more
doaj   +1 more source

Impaired Islet Function in Commonly Used Transgenic Mouse Lines due to Human Growth Hormone Minigene Expression [PDF]

, 2014
SummaryThe human growth hormone (hGH) minigene is frequently used in the derivation of transgenic mouse lines to enhance transgene expression. Although this minigene is present in the transgenes as a secondcistron, and thus not thought to be expressed ...
Schuit, Frans, Lemaire, Katleen, Stancill, Jennifer S., Goffin, Vincent, Binart, Nadine, Boesmans, Leen, Cauwelier, Elisa J.G., Van Lommel, Leentje, Pruniau, Vincent P.E.G., Schraenen, Anica, Goyvaerts, Lotte, Creemers, John, Declercq, Jeroen, Smolders, Ilse, Osipovich, Anna B., Magnuson, Mark A., in’t Veld, Peter, Brouwers, Bas, Van Schoors, Jolien, Granvik, Mikaela, Creemers, John W.M., in't Veld, Peter, de Faudeur, Geoffroy, Pruniau, Vincent   +23 more
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A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts

Molecular Genetics & Genomic Medicine, 2020
Background Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.
Kai Zhou, Lancheng Huang, Menglong Feng, Xinlei Li, Yi Zhao, Fei Liu, Jiazhang Wei, Danxue Qin, Qiutian Lu, Min Shi, Shenhong Qu, Fengzhu Tang   +11 more
doaj   +1 more source

SOD-1 minigene construct.

, 2014
(A) The SOD-1 minigene contains the fourth and fifth exons of the SOD-1 gene and intervening intron. The intron was reduced to 250 nucleotides after the central 845 nucleotides were eliminated by PCR.
Josh Nichols (605767), Walt F. Lima (449545), Timothy A. Vickers (605766), Cheryl Li (605768), Stanley T. Crooke (449546)   +4 more
core   +1 more source

Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations

Frontiers in Neuroscience, 2022
Biallelic NARS2 mutations can cause various neurodegenerative diseases, leading to growth retardation, intractable epilepsy, and hearing loss in early infancy and further progressing to spastic paraplegia, neurodegeneration, and even death.
Wenjing Hu, Hongjun Fang, Yu Peng, Li Li, Danni Guo, Jingwen Tang, Jurong Yi, Qingqing Liu, Wei Qin, Liwen Wu, Zeshu Ning   +10 more
doaj   +1 more source