NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome (Q24293235)

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28 December 2019

title

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome (English)

1 reference

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NIPBL cohesin loading factor

28 December 2019

main subject

1 reference

GOA release 2020-03-11

metanephros development

1 reference

Cornelia de Lange syndrome

GOA release 2020-03-11

1 reference

1

1 reference

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28 December 2019

author name string

Tzu-Jou Wang

2

1 reference

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28 December 2019

Steven Lisgo

3

1 reference

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28 December 2019

Michael J Bamshad

4

1 reference

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28 December 2019

Tom Strachan

5

1 reference

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28 December 2019

language of work or name

English

0 references

publication date

16 May 2004

1 reference

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28 December 2019

1 reference

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28 December 2019

volume

36

1 reference

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28 December 2019

page(s)

636-641

1 reference

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28 December 2019

issue

6

1 reference

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Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins

28 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038/NG1363

The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1363

A novel mammalian wnt gene, WNT8B, shows brain-restricted expression in early development, with sharply delimited expression boundaries in the developing forebrain

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1363

de Lange syndrome: a clinical review of 310 individuals

20 April 2017

1 reference

A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome

21 January 2018

1 reference

The dup(3q) syndrome: report of eight cases and review of the literature

21 January 2018

1 reference

Further delineation of the dup(3q) syndrome

21 January 2018

1 reference

Faithful anaphase is ensured by Mis4, a sister chromatid cohesion molecule required in S phase and not destroyed in G1 phase

21 January 2018

1 reference

Distant liaisons: long-range enhancer-promoter interactions in Drosophila.

21 January 2018

1 reference

Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.

21 January 2018

1 reference

Cornelia de Lange syndrome. Otolaryngologic manifestations.

21 January 2018

1 reference

Specificity of Distalless repression and limb primordia development by abdominal Hox proteins.

21 January 2018

1 reference

Dynamic expression of murine Cux2 in craniofacial, limb, urogenital and neuronal primordia.

21 January 2018

1 reference

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene

21 January 2018

1 reference

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences

21 January 2018

1 reference

In situ hybridization with digoxigenin-labeled probes: sensitive and reliable detection method applied to myelinating rat brain

21 January 2018

1 reference

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes

21 January 2018

1 reference

Brachmann-de Lange syndrome. Delineation of the clinical phenotype

21 January 2018

1 reference

7 January 2021

Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome

1 reference

7 January 2021

A further report of Brachmann-de Lange syndrome in two sibs with normal parents.

1 reference

7 January 2021

Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms

1 reference

7 January 2021

Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome

1 reference

7 January 2021

Neuropathological analysis of an adult case of the Cornelia de Lange syndrome.

1 reference

7 January 2021

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1363

2 references

Consolidated OpenCitations Corpus – April 2017

3375115

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Dimensions Publication ID

28 December 2019

1026543582

0 references

3375115

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3375115

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15146185%20AND%20SRC:MED&resulttype=core&format=json