ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2016
Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- Advances in Fish Gene Editing.Animals : an open access journal from MDPI · 2026Review
- Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Non-Classic Cornelia de Lange Syndrome Due toChildren (Basel, Switzerland) · 2025Review
- Gastrulation-stage gene expression inScience advances · 2024Article
- Cohesin: an emerging master regulator at the heart of cardiac development.Molecular biology of the cell · 2023Article
- Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology.Stem cell research & therapy · 2022Article
- Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome.Journal of autism and developmental disorders · 2021Article
- The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders.Genesis (New York, N.Y. : 2000) · 2021Review
- Zebrafish Models for Human Skeletal Disorders.Frontiers in genetics · 2021Review
- BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome.Frontiers in molecular biosciences · 2021Review
- Cohesin Components Stag1 and Stag2 Differentially Influence Haematopoietic Mesoderm Development in Zebrafish Embryos.Frontiers in cell and developmental biology · 2020Article
- 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 · 2019Article
- Condensins and cohesins - one of these things is not like the other!Journal of cell science · 2019Review
- Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.International journal of molecular sciences · 2018Article
- NIPBLScientific reports · 2018Article
- Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome.Biology open · 2017Article
- Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.PLoS biology · 2016Article
- The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency.PLoS biology · 2016Article
- Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2016Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Cornelia de Lange Syndrome (CdLS) is a multisystem birth defects disorder that affects every tissue and organ system in the body. Understanding the factors that contribute to the origins, prevalence, and severity of these developmental defects provides the most direct approach for developing screens and potential treatments for individuals with CdLS. Since the majority of cases of CdLS are caused by haploinsufficiency for NIPBL (Nipped-B-like, which encodes a cohesin-associated protein), we have developed mouse and zebrafish models of CdLS by using molecular genetic tools to create Nipbl-deficient mice and zebrafish (Nipbl(+/-) mice, zebrafish nipbl morphants). Studies of these vertebrate animal models have yielded novel insights into the developmental etiology and genes/gene pathways that contribute to CdLS-associated birth defects, particularly defects of the gut, heart, craniofacial structures, nervous system, and limbs. Studies of these mouse and zebrafish CdLS models have helped clarify how deficiency for NIPBL, a protein that associates with cohesin and other transcriptional regulators in the nucleus, affects processes important to the emergence of the structural and physiological birth defects observed in CdLS: NIPBL exerts chromosome position-specific effects on gene expression; it influences long-range interactions between different regulatory elements of genes; and it regulates combinatorial and synergistic actions of genes in developing tissues. Our current understanding is that CdLS should be considered as not only a cohesinopathy, but also a "transcriptomopathy," that is, a disease whose underlying etiology is the global dysregulation of gene expression throughout the organism. © 2016 Wiley Periodicals, Inc.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.