(Q33639830)

28 July 2017

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome (English)

1 reference

28 July 2017

14

1 reference

28 July 2017

11

Stephan Ehl

1 reference

28 July 2017

34

Jennifer M Puck

1 reference

28 July 2017

23

Ayper Somer

1 reference

28 July 2017

26

Andrew Gennery

1 reference

28 July 2017

37

Bodo Grimbacher

1 reference

28 July 2017

21

Necil Kutukculer

1 reference

28 July 2017

20

Ferah Genel

1 reference

28 July 2017

18

Ismail Reisli

1 reference

28 July 2017

19

Sevgi Keles

1 reference

28 July 2017

15

Tim Niehues

1 reference

28 July 2017

38

Talal A Chatila

1 reference

28 July 2017

2

Sean McGhee

1 reference

28 July 2017

9

Maria Garcia Lloret

1 reference

28 July 2017

36

Edward R B McCabe

1 reference

28 July 2017

Karin R Engelhardt

1

1 reference

28 July 2017

Sabine Winkler

3

1 reference

28 July 2017

Atfa Sassi

4

1 reference

28 July 2017

Cristina Woellner

5

1 reference

28 July 2017

Gabriela Lopez-Herrera

6

1 reference

28 July 2017

Andrew Chen

7

1 reference

28 July 2017

Hong Sook Kim

8

1 reference

28 July 2017

Ilka Schulze

10

1 reference

28 July 2017

Jens Thiel

12

1 reference

28 July 2017

Dietmar Pfeifer

13

1 reference

28 July 2017

Kathrin Siepermann

16

1 reference

28 July 2017

Sebastian Weinspach

17

1 reference

28 July 2017

Yildiz Camcioğlu

22

1 reference

28 July 2017

Elif Karakoc-Aydiner

24

1 reference

28 July 2017

Isil Barlan

25

1 reference

28 July 2017

Ayse Metin

27

1 reference

28 July 2017

Aydan Degerliyurt

28

1 reference

28 July 2017

Maria C Pietrogrande

29

1 reference

28 July 2017

Mehdi Yeganeh

30

1 reference

28 July 2017

Zeina Baz

31

1 reference

28 July 2017

Salem Al-Tamemi

32

1 reference

28 July 2017

Christoph Klein

33

1 reference

28 July 2017

Steven M Holland

35

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 2009

1 reference

The Journal of Allergy and Clinical Immunology

28 July 2017

1 reference

28 July 2017

124

1 reference

28 July 2017

6

1 reference

28 July 2017

1289-302.e4

1 reference

Combined immunodeficiency associated with DOCK8 mutations

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Activation of Rho GTPases by DOCK exchange factors is mediated by a nucleotide sensor

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Wiskott-Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Isolated populations and complex disease gene identification

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

STAT3 mutations in the hyper-IgE syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Detection of large-scale variation in the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Genome architecture, rearrangements and genomic disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Genetic linkage of hyper-IgE syndrome to chromosome 4.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818862

The hyper IgE syndrome and mutations in TYK2

14 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20004785

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2009.10.038

1 reference

28 July 2017

1 reference

28 July 2017

1 reference