Results 41 to 50 of about 2,646 (162)

eEF1G Orchestrates Translation to Ensure Meiotic Progression in Transcriptionally Quiescent Spermatocytes

Advanced Science, Volume 13, Issue 52, 18 September 2026.
eEF1G supports translation elongation of meiotic mRNAs in transcriptionally quiescent leptotene and zygotene spermatocytes. Its depletion in germ cells causes meiotic arrest at the zygotene stage, with defective homologous synapsis and unstable recombination intermediates.
Jianze Xu, Yuwei Hu, Xukun Lu, Yuling Cai, Tongtong Li, Ming Gao, Jinlong Ma, Yuan Gao, Shangming Liu, Zi‐Jiang Chen, Jing Meng, Hongbin Liu, Xiaohua Jiang   +12 more
wiley   +1 more source

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

Orphanet Journal of Rare Diseases, 2019
Background Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar features clinically.
Hui Tang, Jing Guo, Siyuan Linpeng, Lingqian Wu   +3 more
doaj   +1 more source

High‐Content CRISPR Screening: Methods and Applications

MedComm, Volume 7, Issue 9, September 2026.
High‐content CRISPR screening represents a paradigm shift in functional genomics, moving beyond traditional survival‐based readouts to enable multidimensional mapping of genotype–phenotype relationships. This review systematically outlines the methodological evolution of this approach, detailing advances in perturbation modalities, delivery systems ...
Yike Zhang, Yimeng Zhang, Xudong Tang, Xinyu Deng, Yitian Zhou, Yanfeng Wu, Jianhua Luo   +6 more
wiley   +1 more source

Current Challenges of Transcription Compartmentalization Research

Advanced Science, Volume 13, Issue 46, 17 August 2026.
Transcription factors, coactivators, and RNA polymerase II assemble into transcription compartments ranging from small, defined complexes to liquid‐like condensates. This review unifies these seemingly competing descriptions along a single continuum and asks what these compartments have been shown to do, and what they have not, revealing that the most ...
Thomas Quail, Sina Wittmann
wiley   +1 more source

Scc2/Nipbl hops between chromosomal cohesin rings after loading

eLife, 2017
The cohesin complex mediates DNA-DNA interactions both between (sister chromatid cohesion) and within chromosomes (DNA looping). It has been suggested that intra-chromosome loops are generated by extrusion of DNAs through the lumen of cohesin’s ring. Scc2 (Nipbl) stimulates cohesin’s ABC-like ATPase and is essential for loading cohesin onto chromosomes.
James Rhodes, Davide Mazza, Kim Nasmyth, Stephan Uphoff   +3 more
openaire   +4 more sources

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and aNIPBLMutation [PDF]

Case Reports in Genetics, 2012
Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality.
Rose H. Mende, David P. Drake, Raimos M. Olomi, Ben C. J. Hamel   +3 more
openaire   +3 more sources

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, Volume 67, Issue 6, Page 3185-3198, June 2026.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report

Journal of Korean Medical Science, 2010
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly characterized by distinctive facial features, upper limb malformations, growth and cognitive retardation. The diagnosis of the syndrome is based on the distinctive clinical features. The etiology is still not clear.
Park, Kyung-Hee, Lee, Seung-Tae, Ki, Chang-Seok, Byun, Shin-Yun   +3 more
openaire   +2 more sources

Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report

Journal of Medical Case Reports, 2011
Background Cornelia de Lange syndrome is characterized by dysmorphic facial features, hirsutism, severe growth and developmental delay. Germline mutations in the NIPBL gene with an autosomal dominant pattern and in the SMC1A gene with an X-linked pattern
Mohamadian Gholamreza, Nazem Habibolah, Monajemzadeh Roya, Galehdari Hamid, Pedram Mohammad   +4 more
doaj   +1 more source

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

Nature Communications, 2021
Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established.
Patricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, Ignacio Coca, Antonio Gomez, Maria Maqueda, Ana Latorre-Pellicer, Beatriz Puisac, Feliciano J. Ramos, Juan Sandoval, Manel Esteller, Jose Luis Mosquera, Jairo Rodriguez, J. Pié, Ana Losada, Ethel Queralt   +15 more
doaj   +1 more source