Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features (Q27011405)

Junfeng Zhang

series ordinal

2

1 reference

Italian Journal of Paediatrics

language of work or name

1 reference

20 September 2014

11 references

13 March 2019

21 March 2019

20 June 2019

27 June 2019

30 June 2019

2 August 2019

14 September 2019

15 December 2019

2 November 2020

6 November 2020

12 references

13 March 2019

21 March 2019

20 June 2019

27 June 2019

30 June 2019

2 August 2019

14 September 2019

15 December 2019

29 May 2020

2 November 2020

6 November 2020

40

1 reference

page(s)

77

1 reference

Creative Commons Attribution

copyright license

10 references

13 March 2019

21 March 2019

20 June 2019

27 June 2019

30 June 2019

2 August 2019

14 September 2019

15 December 2019

2 November 2020

6 November 2020

0 references

on focus list of Wikimedia project

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13052-014-0077-3

0 references

cites work

Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Inhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

The class C Vps complex functions at multiple stages of the vacuolar transport pathway

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

α-granules: a story in the making

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Metazoan cell biology of the HOPS tethering complex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

The full-of-bacteria gene is required for phagosome maturation during immune defense in Drosophila.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

ARC syndrome: an expanding range of phenotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6.

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

Clinical characteristics and VPS33B mutations in patients with ARC syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

Agranular platelets as a cardinal feature of ARC syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13052-014-0077-3

Arthrogryposis, renal dysfunction and cholestasis syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422138

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/25239142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and molecular genetic features of ARC syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25239142

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25239142