Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease (Q22010996)

GOA release 2020-03-11

Hailey-Hailey disease

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2

J M Bonifas

Jeannette M.

Bonifas

1 reference

23 September 2022

Z Hu

1

Zhilan

Hu

1 reference

23 September 2022

J Beech

3

Jenna

Beech

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23 September 2022

G Bench

4

Graham

Bench

1 reference

23 September 2022

T Shigihara

5

Takako

Shigihara

1 reference

23 September 2022

H Ogawa

6

Hideoki

Ogawa

1 reference

23 September 2022

S Ikeda

7

Shigaku

Ikeda

1 reference

23 September 2022

T Mauro

8

Theodora

Mauro

1 reference

23 September 2022

E H Epstein

9

Ervin H.

Epstein

1 reference

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

23 September 2022

language of work or name

English

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publication date

January 2000

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published in

Nature Genetics

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volume

24

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issue

1

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page(s)

61-5

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cites work

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Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q

21 January 2018

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Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region.

21 January 2018

1 reference

Molecular cloning and tissue distribution of alternatively spliced mRNAs encoding possible mammalian homologues of the yeast secretory pathway calcium pump

21 January 2018

1 reference

The yeast secretory pathway is perturbed by mutations in PMR1, a member of a Ca2+ ATPase family.

21 January 2018

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The yeast Ca(2+)-ATPase homologue, PMR1, is required for normal Golgi function and localizes in a novel Golgi-like distribution

21 January 2018

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PMR1, a Ca2+-ATPase in yeast Golgi, has properties distinct from sarco/endoplasmic reticulum and plasma membrane calcium pumps

21 January 2018

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Effects of steroid, retinoid, and protease inhibitors on the formation of acantholysis induced in organ culture of skins from patients with benign familial chronic pemphigus

21 January 2018

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Compartmentalization of calcium extrusion mechanisms in the outer and inner segments of photoreceptors

21 January 2018

1 reference

Keratinocyte K+ channels mediate Ca2+-induced differentiation

21 January 2018

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Acute barrier perturbation abolishes the Ca2+ and K+ gradients in murine epidermis: quantitative measurement using PIXE.

21 January 2018

1 reference

Formation of the epidermal calcium gradient coincides with key milestones of barrier ontogenesis in the rodent

21 January 2018

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Depletion of manganese within the secretory pathway inhibits O-linked glycosylation in mammalian cells

21 January 2018

1 reference

Cellular copper transport

21 January 2018

1 reference

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

21 January 2018

1 reference

Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome

21 January 2018

1 reference

Hailey-Hailey disease: the clinical features, response to treatment and prognosis

21 January 2018

1 reference

7 January 2021

Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24

1 reference

7 January 2021

Stimulation of protein kinase C during Ca(2+)-induced keratinocyte differentiation. Selective blockade of MARCKS phosphorylation by calmodulin

1 reference

7 January 2021

Involvement of desmoplakin phosphorylation in the regulation of desmosomes by protein kinase C, in HeLa cells

1 reference

7 January 2021

Benign familial chronic pemphigus (Hailey-Hailey disease) responds to cyclosporin

1 reference

7 January 2021

Transport to endoplasmic reticulum by signal peptide, but not proteolytic processing, is required for formation of conformational epitopes of pemphigus vulgaris antigen (Dsg3)

1 reference

7 January 2021

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

1 reference

7 January 2021

Identifiers

DOI

10.1038/71701

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Consolidated OpenCitations Corpus – April 2017

2667945

release_kqpu442p6fefzftwehtbraicmy

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Fatcat ID

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2667945

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference