(Q42685074)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

combined immunodeficiency

2 March 2020

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Nima Memaran-Dagda

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Elisabeth Förster-Waldl

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Stavroula Woutsas

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Caner Aytekin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Cecilia Domínguez Conde

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Sema Apaydin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Herbert Pichler

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Ferda Ozbay Hosnut

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Susanne Matthes

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Wolf-Dietrich Huber

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Thomas Lion

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Wolfgang Holter

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Ivan Bilic

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Kaan Boztug

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

language of work or name

English

0 references

publication date

1 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

volume

125

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

1674-1676

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

2 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

Combined immunodeficiencies with nonfunctional T lymphocytes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

Phospholipids: "greasing the wheels" of humoral immunity

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

PI3 kinase signals BCR-dependent mature B cell survival

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

Maintaining the norm: T-cell homeostasis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

Phosphatidylinositol (PI) 3-kinase and PI 4-kinase binding to the CD4-p56lck complex: the p56lck SH3 domain binds to PI 3-kinase but not PI 4-kinase

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4375718

10.1182/BLOOD-2014-08-595397

27 May 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25745186%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference