(Q48191014)

9 February 2018

title

Novel ATP2A2 mutations in a large sample of individuals with Darier disease (English)

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9 February 2018

author

Detelina Grozeva

4

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9 February 2018

Katherine Gordon-Smith

object named as

Katherine Gordon-Smith

2

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author name string

Elaine K Green

1

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9 February 2018

Susan M Burge

3

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9 February 2018

Colin S Munro

5

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9 February 2018

Sherine Tavadia

6

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9 February 2018

Lisa Jones

7

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9 February 2018

Nicholoas Craddock

8

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9 February 2018

publication date

28 January 2013

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9 February 2018

The Journal of Dermatology

published in

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9 February 2018

volume

40

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9 February 2018

issue

4

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9 February 2018

page(s)

259-266

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9 February 2018

Darier-White disease: A review of the clinical features in 163 patients

cites work

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.12082

The phenotype of Darier's disease: penetrance and expressivity in adults and children

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Calcium pump disorders of the skin

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Exacerbation of Darier disease by lithium carbonate

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

21 January 2018

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The functional importance of the extreme C-terminal tail in the gene 2 organellar Ca(2+)-transport ATPase (SERCA2a/b).

21 January 2018

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ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

21 January 2018

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Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease.

21 January 2018

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Five mutations of ATP2A2 gene in Chinese patients with Darier's disease and a literature review of 86 cases reported in China

21 January 2018

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Novel mutations in two families with Darier's disease.

21 January 2018

1 reference

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Two novel frame-shift mutations of ATP2A2 gene in Chinese patients with Darier's disease.

21 January 2018

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New mutations of Darier disease in Tunisian patients

21 January 2018

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Clinical and mutational heterogeneity of Darier disease in Tunisian families

21 January 2018

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Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.

21 January 2018

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Novel mutations of the ATP2A2 gene in two families with Darier's disease

21 January 2018

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A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease.

21 January 2018

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Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease.

21 January 2018

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Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease.

21 January 2018

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Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses

21 January 2018

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Protein aggregation of SERCA2 mutants associated with Darier disease elicits ER stress and apoptosis in keratinocytes

21 January 2018

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The neuropsychiatric phenotype in Darier disease

21 January 2018

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ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes

21 January 2018

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Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

21 January 2018

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A method and server for predicting damaging missense mutations

21 January 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability

21 January 2018

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Identification of mutations in the ATP2A2 gene in patients with Darier's disease from Hungary.

21 January 2018

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Real time quantitative PCR

21 January 2018

1 reference

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Measurement of locus copy number by hybridisation with amplifiable probes

21 January 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

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Analysis of copy number variation using quantitative interspecies competitive PCR

21 January 2018

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The high affinity neurotensin receptor gene (NTSR1): comparative sequencing and association studies in schizophrenia

21 January 2018

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Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier’s disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.12082

21 January 2018

Identifiers

DOI

10.1111/1346-8138.12082

1 reference

9 February 2018

release_gewc3az3nrbijjltvhuw7rpzsm

Fatcat ID

0 references

1 reference

9 February 2018