(Q35221685)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25683118%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (English)

1 reference

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29 February 2020

5

1 reference

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29 February 2020

Christian Cole

8

1 reference

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29 February 2020

Edel O'Toole

20

1 reference

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29 February 2020

David P. Kelsell

21

1 reference

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29 February 2020

author name string

Zhimiao Lin

1

1 reference

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29 February 2020

Jiahui Zhao

2

1 reference

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29 February 2020

Daniela Nitoiu

3

1 reference

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29 February 2020

Claire A Scott

4

1 reference

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29 February 2020

Frances J D Smith

6

1 reference

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29 February 2020

Neil J Wilson

7

1 reference

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29 February 2020

Mary E Schwartz

9

1 reference

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29 February 2020

W H Irwin McLean

10

1 reference

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29 February 2020

Huijun Wang

11

1 reference

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29 February 2020

Cheng Feng

12

1 reference

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29 February 2020

Lina Duo

13

1 reference

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29 February 2020

Eray Yihui Zhou

14

1 reference

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29 February 2020

Yali Ren

15

1 reference

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29 February 2020

Lanlan Dai

16

1 reference

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29 February 2020

Yulan Chen

17

1 reference

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29 February 2020

Jianguo Zhang

18

1 reference

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29 February 2020

Xun Xu

19

1 reference

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29 February 2020

Yong Yang

22

1 reference

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29 February 2020

language of work or name

English

0 references

publication date

12 February 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25683118%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 February 2020

published in

1 reference

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29 February 2020

volume

96

1 reference

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29 February 2020

issue

3

1 reference

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29 February 2020

page(s)

440-447

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25683118%20AND%20SRC:MED&resulttype=core&format=json

Peeling off the genetics of atopic dermatitis-like congenital disorders

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Proteases: common culprits in human skin disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Calpain activity is essential in skin wound healing and contributes to scar formation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Calpains, mitochondria, and apoptosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Regulation of adhesion dynamics by calpain-mediated proteolysis of focal adhesion kinase (FAK).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Comprehensive behavioral phenotyping of calpastatin-knockout mice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Calpain inhibition: a therapeutic strategy targeting multiple disease states.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Overexpression of calpastatin inhibits L8 myoblast fusion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Calpain-mediated proteolysis of talin regulates adhesion dynamics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Focal adhesion and actin dynamics: a place where kinases and proteases meet to promote invasion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Antidesmosomal monoclonal antibody in the diagnosis of intracranial tumours

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Antibody markers of basal cells in complex epithelia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Autosomal recessive pachyonychia congenita

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Ubiquitous calpains promote caspase-12 and JNK activation during endoplasmic reticulum stress-induced apoptosis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Calpain mediates excitotoxic DNA fragmentation via mitochondrial pathways in adult brains: evidence from calpastatin mutant mice.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375526

Epidermal growth factor activates m-calpain, resulting in apoptosis of HaCaT keratinocytes

26 September 2018

1 reference

12 December 2020

Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder

1 reference

12 December 2020

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome

1 reference

12 December 2020

Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity

1 reference

12 December 2020

New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis

1 reference

12 December 2020

Skin peeling syndrome in a Kurdish family

1 reference

12 December 2020

10.1016/J.AJHG.2014.12.026

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25683118%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25683118%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

25683118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25683118%20AND%20SRC:MED&resulttype=core&format=json