Results 51 to 60 of about 314 (196)

Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations [PDF]

European Journal of Human Genetics, 2011
UK NHS diagnostic service sequence analysis of genes generally examines and reports on variations within a designated region 5' and 3' of each exon, typically 30 bp up and downstream. However, because of the degenerate nature of the splice sites, intronic variants outside the AG and GT dinucleotides of the acceptor and donor splice sites (ASS and DSS ...
Allan J, Richards, Annie, McNinch, Joanne, Whittaker, Becky, Treacy, Kim, Oakhill, Arabella, Poulson, Martin P, Snead   +6 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

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

Scientific Reports, 2021
More than 900 variants have been described in the GLA gene. Some intronic variants and copy number variants in GLA can cause Fabry disease but will not be detected by classical Sanger sequence.
Albina Nowak, Omer Murik, Tzvia Mann, David A. Zeevi, Gheona Altarescu   +4 more
doaj   +1 more source

The Landscape of Long Non‐Coding RNAs Provides Insights Into the Domestication and Improvement of Pear Fruit

Advanced Science, EarlyView.
This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song, Peilin Han, Jiaming Li, Xiaolong Li, Xiang Zhang, Jing Fan, Dongliang Liu, Jianfa Cai, Lingchao Zhang, Jun Wu   +9 more
wiley   +1 more source

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Human Genomics, 2019
Background The clinical significance of SPINK1 intronic variants in chronic pancreatitis has been previously assessed by various approaches including a cell culture-based full-length gene assay.
Xin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, Shun-Jiang Deng, David N. Cooper, Zhuan Liao, Claude Férec, Zhao-Shen Li, Jian-Min Chen   +10 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome

Kidney International Reports
Introduction: X-linked Alport syndrome (XLAS) is a well-known monogenetic kidney disease caused by pathogenic variants in the COL4A5 gene. Routine analysis of exons and direct flanking regions fails to identify a pathogenic variant in 10% to 20% of ...
Dipti Rao, Bartholomeus T. van den Berge, Anneke T. Vulto-van Silfhout, Ilse M. Rood, Joanna A.E. van Wijk, Arend Bökenkamp, Layla Damen, Patrick Rump, Jasper J. van der Smagt, Jitske Jansen, Bart Smeets, Jack F. Wetzels, Rutger J. Maas, Michel van Geel   +13 more
doaj   +1 more source

Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

PLoS ONE, 2017
BackgroundHigh throughput sequencing technologies have revolutionized the identification of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM).
Rita Mendes de Almeida, Joana Tavares, Sandra Martins, Teresa Carvalho, Francisco J Enguita, Dulce Brito, Maria Carmo-Fonseca, Luís Rocha Lopes   +7 more
doaj   +1 more source

Hailey‐Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1

American Journal of Medical Genetics Part A
ABSTRACTHailey‐Hailey disease (OMIM#169600) is an autosomal dominantly inherited genodermatosis characterized by erosions in the flexural areas of the body. Hailey‐Hailey disease is caused by variants in ATP2C1, but for ~10% of the patients, no causative variant is found in the coding region of ATP2C1.
Jenny Blechingberg, Thorkild Terkelsen, Uffe Birk Jensen, Kirsten Rønholt, Mette Sommerlund, Hanne Vinter, Lise Graversen   +6 more
openaire   +3 more sources

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source