Results 21 to 30 of about 806,334 (155)

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

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

Lateral-Flow Assay for Rapid Serodiagnosis of Human Leptospirosis [PDF]

, 2001
An assay device for the rapid detection of Leptospira-specific immunoglobulin M (IgM) antibodies in human sera is presented. The sensitivity (85.8%) and specificity (93.6%) of the assay compared well (91.9% agreement) with those of an IgM enzyme-linked ...
Smits, H. L., Kuriakose, M., Abdoel, Theresia H, Gasem, M. Hussein, Sugathan, Sheela, Smits, Henk L., Pujianto, B., Sasaki, David, Sasaki, D., Vestering, Marc, Abdoel, T. H., Kuriakose, Mariamma, Gussenhoven, G. C., Eapen, C. K., Gasem, M. H., Pujianto, Bambang, Yersin, C., Gussenhoven, George C, Sugathan, S., Vestering, M., Yersin, Claude   +20 more
core   +2 more sources

Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa

Molecular Genetics & Genomic Medicine, 2020
Background Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐
Neng Yang, Yongyi Ma, Hong Yao, Qing Chang, Victor Zhang, Zhiqing Liang, Xiongwei Cai   +6 more
doaj   +1 more source

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

BMC Nephrology, 2017
Background Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap ...
Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo, Kazumoto Iijima   +15 more
doaj   +1 more source

Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene

Frontiers in Pediatrics, 2022
Proximal renal tubular acidosis (pRTA) with ocular abnormalities is an autosomal recessive disease caused by variants in the Solute Carrier Family 4 Member 4 (SLC4A4) gene. Patients present with metabolic acidosis and low plasma bicarbonate concentration
Yan Liu, Wenchao Sheng, Wenchao Sheng, Wenchao Sheng, Jinying Wu, Jinying Wu, Jie Zheng, Jie Zheng, Xiufang Zhi, Xiufang Zhi, Xiufang Zhi, Shuyue Zhang, Shuyue Zhang, Shuyue Zhang, Chunyu Gu, Chunyu Gu, Chunyu Gu, Detong Guo, Detong Guo, Detong Guo, Wenhong Wang   +20 more
doaj   +1 more source

Minigene splicing assay of BRCA1 exon 11.

, 2012
A. The pB1 wild type (WT) version of the minigene is shown. PCMV = promoter of the pCDNA3 vector. ATG = start codon. TAG = stop codon. +3C = insertion of cytosine as the third nucleotide in exon 8. pA = poly A signal.
Michela Raponi (164344), Andrew G. L. Douglas (164348), Diana Baralle (164355), Claudia Tammaro (164350), David I. Wilson (164352)   +4 more
core   +1 more source

Assessing the effects of ANO7 mutations on mRNA splicing using a minigene splicing assay [PDF]

, 2021
Prostate cancer (PrCa) is the most common cancer type in men. Dysregulated splicing is considered a hallmark of cancer, and PrCa has its own characteristic splicing landscape. Alternative splicing (AS) enables production of multiple protein isoforms
Tulonen, Nea
core  

Minigene splicing assay of IRF-3.

, 2013
(A) The wild type (wt) and mutant (mu) versions of the IRF-3 minigene are shown. PCMV, promoter of the pcDNA3.0 vector. pA, polyA signal. IRF-3 exons from 1 to 4 are numbered. The black solid line represents introns.
Jinying Ning (408159), Lianjun Lin (408160), Yong Li (15029), Xinmin Liu (408161), Rong Guo (50063), Dan Sun (140898)   +5 more
core   +1 more source

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing

Orphanet Journal of Rare Diseases, 2021
Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu   +5 more
doaj   +1 more source