(Q24322437)

English

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

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scholarly article

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

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lysosomal associated membrane protein 1

1 reference

GOA release 2020-03-11

VPS33B late endosome and lysosome associated

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GOA release 2020-03-11

CEA cell adhesion molecule 5

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GOA release 2020-03-11

Dipeptidyl peptidase 4

1 reference

GOA release 2020-03-11

membrane fusion

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GOA release 2020-03-11

object named as

Tim Forshew

5

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Richard J. Thompson

object named as

Richard J Thompson

13

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object named as

Fiona E Karet

20

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object named as

Neil V Morgan

3

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Richard C Trembath

object named as

Richard C Trembath

17

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object named as

Eamonn R Maher

24

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object named as

Paul Gissen

1

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author name string

Colin A Johnson

2

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Janneke M Stapelbroek

4

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Wendy N Cooper

6

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Patrick J McKiernan

7

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Leo W J Klomp

8

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Andrew A M Morris

9

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James E Wraith

10

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Patricia McClean

11

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Sally A Lynch

12

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Bryan Lo

14

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Oliver W Quarrell

15

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Maja Di Rocco

16

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Hanna Mandel

18

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S Wali

19

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A S Knisely

21

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Roderick H J Houwen

22

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Deirdre A Kelly

23

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language of work or name

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publication date

April 2004

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Nature Genetics

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36

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4

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400-4

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Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

ARC syndrome: an expanding range of phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Membrane fusion and exocytosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Mechanisms of intracellular protein transport

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Accuracy of genotyping for single nucleotide polymorphisms by a microarray-based single nucleotide polymorphism typing method involving hybridization of short allele-specific oligonucleotides

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Acidic di-leucine motif essential for AP-3-dependent sorting and restriction of the functional specificity of the Vam3p vacuolar t-SNARE.

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

A role for acidic residues in di-leucine motif-based targeting to the endocytic pathway

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

n-Sec1: a neural-specific syntaxin-binding protein

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

A rat brain Sec1 homologue related to Rop and UNC18 interacts with syntaxin

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

The Role of mVps18p in Clustering, Fusion, and Intracellular Localization of Late Endocytic Organelles

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes.

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Human Vam6p promotes lysosome clustering and fusion in vivo

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

Deacetylase activity associates with topoisomerase II and is necessary for etoposide-induced apoptosis

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

The riddle of the Sec1/Munc-18 proteins – new twists added to their interactions with SNAREs

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

21 January 2018

[Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature]

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

7 January 2021

based on heuristic

inferred from DOI database lookup

The Sec1 family: a novel family of proteins involved in synaptic transmission and general secretion.

1 reference

https://api.crossref.org/works/10.1038%2FNG1325

7 January 2021

based on heuristic

inferred from DOI database lookup

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