Results 61 to 70 of about 2,902,010 (219)

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

Annals of Clinical and Translational Neurology, 2021
Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data.
Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski   +16 more
doaj   +1 more source

Whole-Genome Sequencing Identifies a Novel Deep Intronic ADAMTS17 Variant in Weill–Marchesani Syndrome 4

Background: Weill-Marchesani syndrome 4 (WMS4) is a rare autosomal recessive disorder caused by ADAMTS17 variants, yet deep intronic variants and their splicing-disruptive effects remain poorly explored, limiting diagnostic yields.
hu, huaying
core   +1 more source

ZBTB18 Dysfunction Promotes Neuropathic Pain via CHD4‐based Epigenetic Disinhibition of CLIC1 Channels in Sensory Neurons

Advanced Science, EarlyView.
In this study, we identify a novel functional role of ZBTB18 in regulating trigeminal‐mediated neuropathic pain. Nerve injury reduces ZBTB18 in trigeminal ganglion neurons, impairing CHD4/NuRD recruitment and de‐repressing Clic1. Elevated CLIC1 enhances chloride channel activity and neuronal hyperexcitability, thereby driving pain.
Shoupeng Wang, Zitong Huang, Yu Tao, Yunmei Zhang, Yufang Sun, Dongsheng Jiang, Weiwei Lu, Fuhai Ji, Gang Chen, Min Xu, Yuan Zhang, Jin Tao   +11 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

Phase Separation of SF3B1 Serves as a Critical Post‐Transcriptional Regulator During Early Mouse Embryogenesis

Advanced Science, EarlyView.
Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Kang Zhao, Ting‐Yu Han, Yan‐Li Cheng, Yi‐Dan Zhang, Yu‐Wei Zhang, JinJian Guo, ShaoJun Zhang, WenZe Huang, Jing Zhang, Pei‐Yu Liao, Ying Xin, ChuanChen Chu, Qing‐Yuan Sun, ZhiZhen Liu, Xiang‐Hong Ou, Jun Xie   +15 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

Glucocorticoid Receptor Signaling in Myeloid Cells Orchestrates Inflammation Resolution and Muscle Repair

Advanced Science, EarlyView.
Glucocorticoids (GC) are widely used to reduce inflammation. We show that the glucocorticoid receptor in myeloid cells regulates macrophage cell cycle and genome integrity during muscle regeneration. We demonstrate that dexamethasone administration during the early inflammatory phase delays muscle repair by increasing macrophage proliferation ...
Sirine Souali‐Crespo, Joe G. Rizk, Emilia Calvano, Rajesh Sahu, Emina Colovic, Imane Chabba, Valentine Gilbart, Erwan Grandgirard, Bastien Morlet, Qingshuang Cai, Daniel Metzger, Delphine Duteil   +11 more
wiley   +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

First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation

, 2020
We report a Belgian boy presenting with severe growth delay, microcephaly and several immune defects suggestive of Bloom Syndrome, a rare genetic autosomal recessive disorder caused by germline mutations in the BLM/RECQL3 gene.
Vral, Anne, Claes, Kathleen, Lambrecht, Bart, De Bruyne, Marieke, Tavernier, Simon, Haerynck, Filomeen, Baeyens, Ans, Backers, Lynn, Parton, Bram, Vermeulen, Stephanie, Van Den Bogaert, Kris   +10 more
core  

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

Advanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu, Zhou Jiang, Lin Chen, Gowena Ling Yi Goh, Weijing Li, Qian He, Xintong Chen, Rui Li, Yuxuan Liu, Ning Li, Tao Zhou, Peng Xu   +11 more
wiley   +1 more source