(Q49105512)

18 February 2018

title

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). (English)

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18 February 2018

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18 February 2018

Alain Verloes

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object named as

Alain Verloes

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18 February 2018

Delfien Syx

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18 February 2018

Lut Van Laer

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18 February 2018

Jan Hellemans

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18 February 2018

Trinh Hermanns-Lê

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18 February 2018

Andy Willaert

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18 February 2018

Abdelmajid Benmansour

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18 February 2018

Anne De Paepe

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18 February 2018

publication date

28 April 2010

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18 February 2018

published in

Human Genetics

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18 February 2018

volume

128

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18 February 2018

page(s)

79-88

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18 February 2018

issue

1

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18 February 2018

https://scigraph.springernature.com/pub.10.1007/s00439-010-0829-0

exact match

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cites work

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

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12 December 2020

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

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12 December 2020

Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.

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12 December 2020

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

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12 December 2020

Ultrastructural and morphometrical evaluations on normal human dermal connective tissue--the influence of age, sex and body region.

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12 December 2020

Involvement of the Ras-Ras-activated Rab5 guanine nucleotide exchange factor RIN2-Rab5 pathway in the hepatocyte growth factor-induced endocytosis of E-cadherin

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12 December 2020

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

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12 December 2020

GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

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12 December 2020

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

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12 December 2020

Rab5 regulates motility of early endosomes on microtubules

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12 December 2020

Rabs and their effectors: achieving specificity in membrane traffic

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12 December 2020

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

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12 December 2020

A novel binding protein composed of homophilic tetramer exhibits unique properties for the small GTPase Rab5

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12 December 2020

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

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12 December 2020

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

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12 December 2020

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)

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12 December 2020

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

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12 December 2020

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

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12 December 2020

10.1007/S00439-010-0829-0

Identifiers

DOI

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18 February 2018

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18 February 2018