(Q84543285)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22773132%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa (English)

1 reference

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7 February 2020

1 reference

Björn Fischer-Zirnsak

1

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7 February 2020

Shubha R Phadke

12

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7 February 2020

Arti Nanda

17

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7 February 2020

23

Stefan Mundlos

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7 February 2020

4

Thatjana Gardeitchik

1 reference

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7 February 2020

24

Eva Morava

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7 February 2020

author name string

Aikaterini Dimopoulou

2

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7 February 2020

Johannes Egerer

3

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7 February 2020

Alexa Kidd

5

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7 February 2020

Dominik Jost

6

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7 February 2020

Hülya Kayserili

7

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7 February 2020

Yasemin Alanay

8

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7 February 2020

Iliana Tantcheva-Poor

9

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7 February 2020

Elisabeth Mangold

10

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7 February 2020

Cornelia Daumer-Haas

11

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7 February 2020

Reto I Peirano

13

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7 February 2020

Julia Heusel

14

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7 February 2020

Charu Desphande

15

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7 February 2020

Neerja Gupta

16

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7 February 2020

Emma Felix

18

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7 February 2020

Elisabeth Berry-Kravis

19

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7 February 2020

Madhulika Kabra

20

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7 February 2020

Ron A Wevers

21

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7 February 2020

Lionel van Maldergem

22

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7 February 2020

Uwe Kornak

25

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7 February 2020

publication date

8 July 2012

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7 February 2020

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7 February 2020

volume

131

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7 February 2020

issue

11

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7 February 2020

page(s)

1761-1773

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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

7 February 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Endocytic regulation of TGF-beta signaling

1 reference

12 December 2020

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

1 reference

12 December 2020

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

1 reference

12 December 2020

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

1 reference

12 December 2020

Metabolic cutis laxa syndromes

1 reference

12 December 2020

Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome?

1 reference

12 December 2020

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

1 reference

12 December 2020

Pathogenetic mechanisms and treatment options for ophthalmic pterygium: trends and perspectives (Review).

1 reference

12 December 2020

Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development

1 reference

12 December 2020

COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation

1 reference

12 December 2020

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

1 reference

12 December 2020

The vacuolar (H+)-ATPases--nature's most versatile proton pumps

1 reference

12 December 2020

Iejimalides A and B inhibit lysosomal vacuolar H+-ATPase (V-ATPase) activity and induce S-phase arrest and apoptosis in MCF-7 cells

1 reference

12 December 2020

The V-type H+ ATPase: molecular structure and function, physiological roles and regulation

1 reference

12 December 2020

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

1 reference

12 December 2020

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

12 December 2020

Uncoupling of brefeldin a-mediated coatomer protein complex-I dissociation from Golgi redistribution

1 reference

12 December 2020

Golgi proteins persist in the tubulovesicular remnants found in brefeldin A-treated pancreatic acinar cells

1 reference

12 December 2020

Defective protein glycosylation in patients with cutis laxa syndrome.

1 reference

12 December 2020

The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co-culture with JEG-3 choriocarcinoma cells

1 reference

12 December 2020

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation

1 reference

12 December 2020

TGF-beta in the pathogenesis and prevention of disease: a matter of aneurysmic proportions

1 reference

12 December 2020

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

1 reference

12 December 2020

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

1 reference

12 December 2020

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

1 reference

12 December 2020

Function, structure and regulation of the vacuolar (H+)-ATPases

1 reference

12 December 2020

V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway

1 reference

12 December 2020

Generation of chicken monoclonal antibodies against the a1, a2, and a3 subunit isoforms of vacuolar-type proton ATPase.

1 reference

12 December 2020

Proton translocation driven by ATP hydrolysis in V-ATPases

1 reference

12 December 2020

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type

1 reference

12 December 2020

Autosomal recessive cutis laxa syndrome revisited

1 reference

12 December 2020

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.

1 reference

12 December 2020

Making sense of latent TGFbeta activation

1 reference

12 December 2020

Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells.

1 reference

12 December 2020

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

1 reference

12 December 2020

Animal models with pathological mineralization phenotypes

1 reference

12 December 2020

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

1 reference

12 December 2020

Decreased bone density and treatment in patients with autosomal recessive cutis laxa.

1 reference

12 December 2020

COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins

1 reference

12 December 2020

Extracellular control of TGFbeta signalling in vascular development and disease

1 reference

12 December 2020

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.

1 reference

12 December 2020

De Barsy syndrome--an autosomal recessive, progeroid syndrome.

1 reference

12 December 2020

Mutations in PYCR1 cause cutis laxa with progeroid features

1 reference

12 December 2020

Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.

1 reference

12 December 2020

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking

1 reference

12 December 2020

Complex regulation of transforming growth factor beta 1, beta 2, and beta 3 mRNA expression in mouse fibroblasts and keratinocytes by transforming growth factors beta 1 and beta 2.

1 reference

12 December 2020