(Q42385938)

29 October 2017

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

1 reference

intestinal pseudo-obstruction

29 October 2017

1 reference

3

1 reference

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

11 June 2020

Jianguo Zhang

6

1 reference

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

11 June 2020

Paolo Nozza

8

1 reference

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

11 June 2020

Manuela Mosconi

9

1 reference

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

11 June 2020

Giuseppe Martucciello

11

1 reference

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

11 June 2020

Marcella Devoto

17

1 reference

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

11 June 2020

Isabella Ceccherini

19

1 reference

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

11 June 2020

18

Hakon Hakonarson

1 reference

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

11 June 2020

author name string

Ivana Matera

1

1 reference

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

11 June 2020

Marta Rusmini

2

1 reference

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

11 June 2020

Margherita Lerone

4

1 reference

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

11 June 2020

Jiankang Li

5

1 reference

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

11 June 2020

Marco Di Duca

7

1 reference

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

11 June 2020

Alessio Pini Prato

10

1 reference

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

11 June 2020

Arrigo Barabino

12

1 reference

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

11 June 2020

Francesco Morandi

13

1 reference

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

11 June 2020

Roberto De Giorgio

14

1 reference

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

11 June 2020

Vincenzo Stanghellini

15

1 reference

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

11 June 2020

Roberto Ravazzolo

16

1 reference

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

11 June 2020

publication date

27 January 2016

1 reference

European Journal of Human Genetics

29 October 2017

1 reference

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

11 June 2020

volume

24

1 reference

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

11 June 2020

issue

8

1 reference

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

11 June 2020

page(s)

1211-1215

1 reference

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

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

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

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

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

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

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

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