Results 71 to 80 of about 4,405 (166)

Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis

Frontiers in Genetics
Objective: The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis.Methods: We utilized whole-exome sequencing (WES) for individual analysis (case 1) and ...
Ting Xiong, Zhongjin Xu, Qian Wan, Feng Chen, Yao Ye, Hong Wang, Chongjun Wu   +6 more
doaj   +1 more source

Aminoacyl‐tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes, D. E. Smith, V. Spek, A. M. Bosch, W. E. Corpeleijn, M. Engelen, S. A. Fuchs, A. Hadchouel, I. U. Heinemann, R. H. Houtkooper, E. M. M. Hoytema van Konijnenburg, S. Kemp, M. Langeveld, C. D. M. Karnebeek, A. Pop, V. M. Siu, N. I. Wolf, G. S. Salomons   +17 more
wiley   +1 more source

Comprehensive functional splicing analysis of non‐canonical CNGB3 variants using in vitro minigene splice assays

The Journal of Pathology
AbstractVariants in the CNGB3 gene, encoding the B3‐subunit of the cone photoreceptor cyclic nucleotide gated channel, are a major cause of autosomal recessive achromatopsia, a rare inherited retinal disease. The mutation spectrum of achromatopsia‐associated CNGB3 variants comprises all types of mutations, including those that are straightforward to ...
Katharina Rawnsley, Nicole Weisschuh, Susanne Kohl, Peggy Reuter   +3 more
openaire   +2 more sources

De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon‐skipping variant

Neuropsychopharmacology Reports, 2018
Aim We previously performed the first trio‐based exome study for bipolar disorder and identified 71 de novo mutations. Among these mutations, the only mutation located at the splice donor site was in UNC13B.
Takumi Nakamura, Kotori Jimbo, Kazuo Nakajima, Takashi Tsuboi, Tadafumi Kato   +4 more
doaj   +1 more source

Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Exome Sequencing identified SCN1B splice site variant in two unrelated consanguineous Pakistani families. (A) Pedigree chart of a family. Circles represent females, squares represent males. Filled symbols represent affected status. Genotype is mentioned below the symbols.
Anees Muhammad, Shafaq Ramzan, Hammad Yousaf, Rafia Zafar Ghumman, Farhan Bahadar Ali, Muhammad Athar Khalily, Asmat Ali, Wajid Ali, Salma Zia, Najeeb Ullah Khan, Muhammad Tahir Sarwar, Matias Toft, Zafar Iqbal, Ambrin Fatima   +13 more
wiley   +1 more source

Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay

Artificial Cells, Nanomedicine, and Biotechnology
Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus.
Lu Bai, Yu Hei, Rujin Tian, Haozheng Zhang, Hongmei Xin, Yanan Yang, Lili Ge, Yuqiang Lv, Xiao Mu, Zhongtao Gai, Guohua Liu, Lifen Gao, Kaihui Zhang   +12 more
doaj   +1 more source

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

Molecular Genetics & Genomic Medicine
AbstractBackgroundX‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre‐mRNA by altering various splicing regulatory signals.
Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao   +8 more
openaire   +3 more sources

Hemizygous splicing variant in CNKSR2 results in X‐linked intellectual developmental disorder

Molecular Genetics & Genomic Medicine
Background Intellectual disability (ID) refers to a childhood‐onset neurodevelopmental disorder with a prevalence of approximately 1%–3%. Methods We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated
Yuting Lou, Xinglei Shi, Guofa Su, Yufan Guo, Liuyan Gao, Ye Wang, Pu Miao, Jianhua Feng   +7 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

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene

Human Genomics
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease. Our goal is to analyze intronic variants in PKHD1 at the mRNA level.The 12 candidate variants were introduced into the corresponding minigene and ...
Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang, Ning Xu, Bingzi Dong, Leping Shao   +12 more
openaire   +3 more sources