Results 31 to 40 of about 9,190 (179)

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

Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene

Frontiers in Genetics, 2023
Background: Molecular genetic testing is the most sensitive and specific method to confirm acute intermittent porphyria (AIP), a rare autosomal dominant disease, caused by Hydroxymethylbilane synthase (HMBS) gene mutation.
Yi Ren, Jiajia Wang, Shuang Li, Jiajia Lei, Yunfeng Liu, Yan Wang, Fei Gao, Jianhong Wang, Jianhong Yin, Jing Yang   +9 more
doaj   +1 more source

Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability

Frontiers in Genetics, 2023
Background: Intellectual disability (ID) is defined by cognitive and social adaptation defects. Variants in the SYNGAP1 gene, which encodes the brain-specific cytoplasmic protein SYNGAP1, are commonly associated with ID.
Boxuan Li, Yu Wang, Dong Hou, Dong Hou, Zhen Song, Lihua Zhang, Na Li, Ruifang Yang, Ping Sun   +8 more
doaj   +1 more source

In vivo transcription of a human antithrombin III “minigene”.

Journal of Biological Chemistry, 1984
A 2.2-kilobase human antithrombin III (ATIII) "minigene" has been constructed which preserves many of the features of the 16-kilobase parental gene. These include approximately 300 base pairs of the 5'-flanking region containing the "TATA"-less ATIII promoter, the entire protein-coding sequence including the signal peptide, a single intervening ...
E V, Prochownik, S H, Orkin
openaire   +2 more sources

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

Frontiers in Genetics
Marfan syndrome (MFS MIM#154700), due to pathogenic variants in the FBN1 gene, is an autosomal dominant connective tissue disorder, typically involving the skeletal, cardiovascular and ocular systems.
Qingming Wang, Fang Zhang, Xinlong Zhou, Hui Li, Juan Zhao, Haiming Yuan   +5 more
doaj   +1 more source

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Frontiers in Genetics, 2023
Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao, Liqun Feng, Jue Wang, Cheng Xu, Xiaotian Su, Guoying Zhang, Shoulian Lu   +6 more
doaj   +1 more source

Origins of minigene‐dependent growth inhibition in bacterial cells [PDF]

The EMBO Journal, 2000
The expression of very short open reading frames in Escherichia coli can lead to the inhibition of translation and an arrest in cell growth. Inhibition occurs because peptidyl-tRNA hydrolase fails to recycle sufficiently rapidly peptidyl-tRNA released from ribosomes at the stop signal in competition with normal termination, causing starvation for ...
V, Heurgué-Hamard, V, Dinçbas, R H, Buckingham, M, Ehrenberg   +3 more
openaire   +2 more sources

Deltacoronavirus Modulates circRNA cGLIS3 Metabolism to Evade Host Antiviral Response

Advanced Science, EarlyView.
This study reveals that both deltacoronavirus nucleocapsid protein and host RNA binding protein IGF2BP2 promote circular RNA GLIS3 (cGLIS3) biogenesis by binding to GLIS3 pre‐mRNA. The m6A modification‐mediated cGLIS3‐IGF2BP2 interaction weakens RNase L‐mediated degradation of cGLIS3 while facilitates a ubiquitin‐dependent degradation of IGF2BP2, thus ...
Liuyang Du, Liping Wang, Sujing Diao, Juan Li, Lei Zhao, Yan Yan, Haimin Li, Weiren Dong, Wei Wu, Jinyan Gu, Jiyong Zhou   +10 more
wiley   +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

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

Frontiers in Medicine, 2022
BackgroundThe incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling.
Haiyue Deng, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +1 more source