Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. (Q37101681)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753090%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome (English)

1 reference

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6 February 2020

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2

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6 February 2020

Blerida Banushi

6

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6 February 2020

Carlo Dionisi-Vici

17

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6 February 2020

Chong Ae Kim

20

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Paul Gissen

24

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14

Fatma Cakmak Celik

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Clarisse Baumann

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6 February 2020

author name string

Holly Smith

1

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6 February 2020

Ekaterina Gogolina

3

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6 February 2020

Anna Straatman-Iwanowska

4

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6 February 2020

Kim Reay

5

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Christopher K Bruce

7

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Andrew R Cullinane

8

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Rene Romero

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Richard Chang

10

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Oanez Ackermann

11

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Hakan Cangul

13

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Canan Aygun

15

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Richard Coward

16

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Barbara Sibbles

18

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Carol Inward

19

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A S Knisely

22

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Steven P Watson

23

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Judith Klumperman

21

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publication date

6 August 2012

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6 February 2020

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6 February 2020

volume

33

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6 February 2020

page(s)

1656-1664

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6 February 2020

issue

12

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LOVD v.2.0: the next generation in gene variant databases

6 February 2020

cites work

1 reference

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Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Subunit organization and Rab interactions of Vps-C protein complexes that control endolysosomal membrane traffic

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Defined subunit arrangement and rab interactions are required for functionality of the HOPS tethering complex

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Vps-C complexes: gatekeepers of endolysosomal traffic

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Efficient termination of vacuolar Rab GTPase signaling requires coordinated action by a GAP and a protein kinase.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Cryosectioning and immunolabeling

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

The CORVET tethering complex interacts with the yeast Rab5 homolog Vps21 and is involved in endo-lysosomal biogenesis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

deep-orange and carnation define distinct stages in late endosomal biogenesis in Drosophila melanogaster

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Convergence and divergence in the mechanism of SNARE binding by Sec1/Munc18-like proteins

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Endosomes: multipurpose designs for integrating housekeeping and specialized tasks

14 September 2017

1 reference

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Sly1 binds to Golgi and ER syntaxins via a conserved N-terminal peptide motif

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Molecular characterization of mammalian homologues of class C Vps proteins that interact with syntaxin-7

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

dbSNP: the NCBI database of genetic variation

14 September 2017

1 reference

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A novel RING finger protein complex essential for a late step in protein transport to the yeast vacuole

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Synaptic vesicle fusion complex contains unc-18 homologue bound to syntaxin

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Improving structural integrity of cryosections for immunogold labeling

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

A dual function for Deep orange in programmed autophagy in the Drosophila melanogaster fat body.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Drosophila Vps16A is required for trafficking to lysosomes and biogenesis of pigment granules

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3746110

Rapid detection of VHL exon deletions using real-time quantitative PCR.

3 September 2018

1 reference

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A role for the deep orange and carnation eye color genes in lysosomal delivery in Drosophila

3 September 2018

1 reference

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Clinical and molecular genetic features of ARC syndrome

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22753090

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22155

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753090%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22753090%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

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