(Q37711878)

English

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

scientific article published on 22 December 2016

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scholarly article

1 reference

Europe PubMed Central

22 August 2017

3 references

15 December 2019

6 November 2020

6 February 2021

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification (English)

1 reference

Europe PubMed Central

22 August 2017

sensorineural hearing loss

2 references

15 December 2019

6 November 2020

palmoplantar keratosis

2 references

15 December 2019

6 November 2020

lamellar ichthyosis

3 references

15 December 2019

6 November 2020

6 February 2021

2 references

6 November 2020

vesicular transport proteins

1 reference

perinatal disease

1 reference

6 February 2021

1 reference

based on heuristic

inferred from title

Blerida Banushi

object named as

Blerida Banushi

4

0 references

object named as

Clare Rogerson

2

0 references

Federico Forneris

object named as

Federico Forneris

7

0 references

object named as

Paul Gissen

19

0 references

17

object named as

Peter Kroisel

1 reference

Europe PubMed Central

22 August 2017

author name string

Robert Gruber

1

1 reference

Europe PubMed Central

22 August 2017

Christian Windpassinger

3

1 reference

Europe PubMed Central

22 August 2017

Anna Straatman-Iwanowska

5

1 reference

Europe PubMed Central

22 August 2017

Joanna Hanley

6

1 reference

Europe PubMed Central

22 August 2017

Robert Strohal

8

1 reference

Europe PubMed Central

22 August 2017

Peter Ulz

9

1 reference

Europe PubMed Central

22 August 2017

Debra Crumrine

10

1 reference

Europe PubMed Central

22 August 2017

Gopinathan K Menon

11

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Europe PubMed Central

22 August 2017

Stefan Blunder

12

1 reference

Europe PubMed Central

22 August 2017

Matthias Schmuth

13

1 reference

Europe PubMed Central

22 August 2017

Thomas Müller

14

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22 August 2017

Holly Smith

15

1 reference

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22 August 2017

Kevin Mills

16

1 reference

Europe PubMed Central

22 August 2017

Andreas R Janecke

18

1 reference

Europe PubMed Central

22 August 2017

language of work or name

0 references

publication date

22 December 2016

1 reference

Europe PubMed Central

22 August 2017

1 April 2017

11 references

12 March 2019

13 March 2019

22 April 2019

25 April 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

15 December 2019

6 November 2020

6 February 2021

Journal of Investigative Dermatology

12 references

Europe PubMed Central

22 August 2017

12 March 2019

13 March 2019

22 April 2019

25 April 2019

20 June 2019

17 June 2019

30 June 2019

14 September 2019

15 December 2019

6 November 2020

6 February 2021

137

1 reference

Europe PubMed Central

22 August 2017

4

1 reference

Europe PubMed Central

22 August 2017

845-854

1 reference

Europe PubMed Central

22 August 2017

copyright license

Creative Commons Attribution 4.0 International

11 references

Europe PubMed Central

12 March 2019

Europe PubMed Central

13 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

20 June 2019

Europe PubMed Central

17 June 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

15 December 2019

Europe PubMed Central

6 November 2020

Europe PubMed Central

6 February 2021

copyright status

0 references

on focus list of Wikimedia project

0 references

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

1 reference

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Characterization of a Novel Integrin Binding Protein, VPS33B, Which Is Important for Platelet Activation and In Vivo Thrombosis and Hemostasis

1 reference

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VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

1 reference

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Structural basis of Vps33A recruitment to the human HOPS complex by Vps16

1 reference

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

1 reference

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A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.

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Glycosylation catalyzed by lysyl hydroxylase 3 is essential for basement membranes

1 reference

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Lysyl hydroxylase 3 (LH3) modifies proteins in the extracellular space, a novel mechanism for matrix remodeling.

1 reference

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23 August 2017

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

1 reference

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23 August 2017

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

1 reference

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23 August 2017

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

1 reference

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23 August 2017

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

1 reference

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Class C Vps protein complex regulates vacuolar SNARE pairing and is required for vesicle docking/fusion

1 reference

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Vps33B is required for delivery of endocytosed cargo to lysosomes.

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Identifiers

10.1016/J.JID.2016.12.010

1 reference

Europe PubMed Central

22 August 2017

1 reference

Europe PubMed Central

22 August 2017

1 reference

Europe PubMed Central

22 August 2017

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