Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction (Q42385938)

29 October 2017

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction (English)

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intestinal pseudo-obstruction

29 October 2017

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3

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Jianguo Zhang

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Paolo Nozza

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Manuela Mosconi

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Giuseppe Martucciello

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Marcella Devoto

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Isabella Ceccherini

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Hakon Hakonarson

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author name string

Ivana Matera

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Marta Rusmini

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Margherita Lerone

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Jiankang Li

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Marco Di Duca

7

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Alessio Pini Prato

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Arrigo Barabino

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Francesco Morandi

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Roberto De Giorgio

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Vincenzo Stanghellini

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Roberto Ravazzolo

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publication date

27 January 2016

1 reference

European Journal of Human Genetics

29 October 2017

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volume

24

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page(s)

1211-1215

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issue

8

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https://scigraph.springernature.com/pub.10.1038/ejhg.2015.275

11 June 2020

exact match

0 references

cites work

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group.

28 May 2018

1 reference

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Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

Associated anomalies in intestinal neuronal dysplasia.

16 August 2018

1 reference

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Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4970688

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations

16 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.275

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26813947

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26813947

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Megacystis microcolon intestinal hypoperistalsis syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26813947

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.275

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26813947%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

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11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26813947%20AND%20SRC:MED&resulttype=core&format=json