Results 61 to 70 of about 2,646 (162)

NIPBL and STAG1 enable loop extrusion by providing differential DNA-cohesin affinity. [PDF]

Proc Natl Acad Sci U S A
Abstract DNA loop extrusion by cohesin has emerged as a critical pathway for chromosome organization. In vitro single-molecule experiments indicate that loop extrusion requires the assembly of an heteropentameric complex consisting of the SMC1/SMC3 heterodimer, STAG1, NIPBL and the kleisin SCC1. The multimeric nature of this complex and
van Wee R, Asor R, Li Y, Drechsel D, Popova M, Litos G, Davidson IF, Peters JM, Kukura P.   +8 more
europepmc   +5 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome

Frontiers in Pediatrics, 2019
Background: Cornelia de Lange Syndrome (CdLS) is a heterogeneous disorder. Diverse expression of clinical symptoms can be caused by a variety of pathogenic variants located within the sequence of different genes correlated with the cohesin complex ...
Natalia Krawczynska, Natalia Krawczynska, Jolanta Wierzba, Bartosz Wasag, Bartosz Wasag   +4 more
doaj   +1 more source

Early‐Onset Digestive System Cancers: Risk Factors and Clinicopathological and Molecular Features Across Organ Sites

Cancer Science, Volume 117, Issue 5, Page 1223-1234, May 2026.
Shared risk factors, clinical features, and tumor characteristics across multiple early‐onset cancer types are shown in this Graphical Abstract. Integrative approaches combining molecular pathology, oncology, and population sciences offer opportunities to clarify underlying mechanisms and help us develop preventive strategies for early‐onset cancers ...
Nobuhiro Nakazawa, Satoko Ugai, Atsushi Kondo, Kosuke Matsuda, Shu Kato, Genki Usui, Shiori Tanaka, Hwa‐Young Lee, Xinyuan Zhang, Hideo Miyagawa, Mai Chan Lau, Hiroshi Saeki, Yukihide Kanemitsu, Andrew T. Chan, Shuji Ogino, Minkyo Song, Juha P. Väyrynen, Tomotaka Ugai   +17 more
wiley   +1 more source

Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos

Developmental Dynamics, Volume 255, Issue 4, Page 403-416, April 2026.
Abstract Background Mutations in cohesins cause cohesinopathies such as Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS). Prior findings demonstrate that Esco2 (a cohesin activator) and Smc3 (a core cohesin subunit) regulate the CRL4 E3 ubiquitin ligase. SMC3 mutations, however, account for a small percentage of CdLS.
Annie C. Sanchez, Niusha Banoukh, Fiona Mensching, Robert V. Skibbens, M. Kathryn Iovine   +4 more
wiley   +1 more source

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
This study presents a 25‐year‐old female with global developmental delay, dysmorphic features, and a complex phenotype arising from co‐occurring chromosomal anomalies: a 6 Mb 10p15.3p14 microdeletion involving the ZMYND11 gene and a 7.6 Mb 7p22.3p21.3 microduplication.
Elia Marco Paolo Minale, Stefania Martone, Chiara Criscuolo, Roberta Marra, Vito Alessandro Lasorsa, Raffaella Ruggiero, Teresa Suero, Mario Capasso, Immacolata Andolfo, Achille Iolascon, Roberta Russo, Michele Pinelli   +11 more
wiley   +1 more source

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

Frontiers in Genetics
Thanks to a long-read sequencing (LRS) approach, in this study, we have reported a molecularly solved case of a proband with a clinical diagnosis of Cornelia de Lange syndrome (CDLS), which is a multisystemic disorder whose causative molecular defects ...
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli, Palma Finelli   +11 more
doaj   +1 more source

Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary Findings

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
The aim of this study is to provide meaningful data surrounding prenatal diagnostic and secondary finding results that can aid in the exome consenting process. As an emerging area of genomic medicine, these results provide holistic incidence rates for rare genetic conditions, presently understudied in the prenatal realm.
Kayleigh Avello, Shawn Gessay, Megan Nelson, Connie Schultz, Natalie Jacob   +4 more
wiley   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

MYC predetermines the sensitivity of gastrointestinal cancer to antifolate drugs through regulating TYMS transcription

EBioMedicine, 2019
Background: Thymidylate synthase (TYMS) is a successful chemotherapeutic target for anticancer therapy. Numerous TYMS inhibitors have been developed and used for treating gastrointestinal cancer now, but they have limited clinical benefits due to the ...
Tingting Liu, Yumin Han, Chunhong Yu, Yan Ji, Changxu Wang, Xiaomin Chen, Xiang Wang, Jiayan Shen, Yongfeng Zhang, Jing-Yu Lang   +9 more
doaj   +1 more source