(Q51545084)

6 April 2018

title

Mutations in the PSTPIP1 gene and aberrant splicing variants in patients with pyoderma gangrenosum. (English)

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6 April 2018

author name string

A B Nesterovitch

1

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6 April 2018

M D Hoffman

2

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6 April 2018

M Simon

3

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6 April 2018

P A Petukhov

4

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6 April 2018

M D Tharp

5

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6 April 2018

T T Glant

6

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6 April 2018

publication date

25 July 2011

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6 April 2018

Clinical and Experimental Dermatology

published in

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6 April 2018

volume

36

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6 April 2018

issue

8

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6 April 2018

page(s)

889-895

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6 April 2018

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

A cdc15-like adaptor protein (CD2BP1) interacts with the CD2 cytoplasmic domain and regulates CD2-triggered adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Pyrin Modulates the Intracellular Distribution of PSTPIP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

CD2BP1 modulates CD2-dependent T cell activation via linkage to protein tyrosine phosphatase (PTP)-PEST.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

PSTPIP: a tyrosine phosphorylated cleavage furrow-associated protein that is a substrate for a PEST tyrosine phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Enhancement of ABL kinase catalytic efficiency by a direct binding regulator is independent of other regulatory mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

PSTPIP is a substrate of PTP-PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Longest form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with Crohn disease in French patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Alteration in the gene encoding protein tyrosine phosphatase nonreceptor type 6 (PTPN6/SHP1) may contribute to neutrophilic dermatoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Predicting the effects of amino acid substitutions on protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Curved EFC/F-BAR-domain dimers are joined end to end into a filament for membrane invagination in endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

CD2BP1 and CARD15 mutations are not associated with pyoderma gangrenosum in patients with inflammatory bowel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Mutation of the androgen receptor at amino acid 708 (Gly-->Ala) abolishes partial agonist activity of steroidal antiandrogens

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

Identification of a novel polyproline recognition site in the cytoskeletal associated protein, proline serine threonine phosphatase interacting protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2230.2011.04137.X

10.1111/J.1365-2230.2011.04137.X

21 January 2018

Identifiers

DOI

1 reference

6 April 2018

1 reference

6 April 2018