Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma (Q34243449)

31 July 2017

title

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma (English)

1 reference

31 July 2017

4

1 reference

31 July 2017

8

1 reference

31 July 2017

11

1 reference

31 July 2017

13

1 reference

31 July 2017

Jean-Laurent Casanova

14

1 reference

31 July 2017

Ayse Palanduz

5

0 references

Bertrand Boisson

Bertrand Boisson

7

0 references

Stefan Feske

Stefan Feske

12

0 references

Minji Byun

Minji Byun

1

0 references

Avinash Abhyankar

2

Avinash Abhyankar

1 reference

31 July 2017

6

Leyla Telhan

1 reference

31 July 2017

Virginie Lelarge

3

1 reference

31 July 2017

Scott Dewell

9

1 reference

31 July 2017

Connie Zhao

10

1 reference

31 July 2017

language of work or name

English

0 references

publication date

27 September 2010

1 reference

Journal of Experimental Medicine

31 July 2017

published in

1 reference

31 July 2017

volume

207

1 reference

31 July 2017

issue

11

1 reference

31 July 2017

page(s)

2307-2312

1 reference

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

KSHV and the pathogenesis of Kaposi sarcoma: listening to human biology and medicine

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

ORAI1 and STIM1 deficiency in human and mice: roles of store-operated Ca2+ entry in the immune system and beyond.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Human genetics of infectious diseases: between proof of principle and paradigm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Kaposi sarcoma in transplantation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Cutaneous and lymphadenopathic Kaposi's sarcoma: a case report and review of literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Primary immunodeficiencies: a field in its infancy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Classic Kaposi's sarcoma associated with human herpesvirus 8 infection in a 13-year-old male: a case report.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Epidemiology and pathogenesis of Kaposi's sarcoma-associated herpesvirus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Kaposi's sarcoma-associated herpesvirus and Kaposi's sarcoma in Africa. Uganda Kaposi's Sarcoma Study Group

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Identification of herpesvirus-like DNA sequences in AIDS-associated Kaposi's sarcoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Detection of herpesvirus-like DNA sequences in Kaposi's sarcoma in patients with and without HIV infection

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

A role for a new herpes virus (KSHV) in different forms of Kaposi's sarcoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Primary Kaposi's sarcoma of the lymph node in children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

Aggressive Kaposi's sarcoma in children: a case report.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2964585

HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency

6 July 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20101597

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20101597

Idiopathisches multiples Pigmentsarkom der Haut

21 January 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20101597

Kaposi’s sarcoma in a child with Wiskott-Aldrich syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20101597

Herpesvirus-like DNA sequences in patients with Mediterranean Kaposi's sarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20101597

A juvenile case of classic Kaposi's sarcoma

21 January 2018

1 reference

12 December 2020

Malignant vascular tumors in children and adolescents: A report from the Italian and German soft tissue sarcoma cooperative group

1 reference

12 December 2020

Juvenile Classic Kaposi'S Sarcoma: A Report Of Two Cases, One With Family History

1 reference

12 December 2020

Kaposi's sarcoma in infants and children

1 reference

12 December 2020

Identifiers

DOI

10.1084/JEM.20101597

1 reference

31 July 2017

1 reference

31 July 2017

1 reference