(Q34355778)

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830146%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

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

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4 March 2020

combined immunodeficiency

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4 March 2020

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4 March 2020

Jennifer Gallagher

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4 March 2020

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4 March 2020

Fabio Facchetti

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4 March 2020

Michael P. Snyder

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Michael Snyder

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4 March 2020

Luigi D Notarangelo

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Luigi D Notarangelo

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4 March 2020

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Kari C Nadeau

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4 March 2020

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Rui Chen

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4 March 2020

Silvia Giliani

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4 March 2020

Gaetana Lanzi

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4 March 2020

Silvia Lonardi

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4 March 2020

John Manis

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4 March 2020

Hogune Im

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4 March 2020

Douglas H Phanstiel

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4 March 2020

Ghia Euskirchen

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4 March 2020

Philippe Lacroute

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4 March 2020

Keith Bettinger

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4 March 2020

Daniele Moratto

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4 March 2020

Katja Weinacht

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4 March 2020

Eleonora Gallo

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4 March 2020

Giovanna Mangili

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4 March 2020

Fulvio Porta

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4 March 2020

Lucia D Notarangelo

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4 March 2020

Stefania Pedretti

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4 March 2020

Waleed Al-Herz

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4 March 2020

Wasmi Alfahdli

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4 March 2020

Anne Marie Comeau

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4 March 2020

Russell S Traister

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4 March 2020

Sung-Yun Pai

26

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4 March 2020

Graziella Carella

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4 March 2020

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4 July 2013

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4 March 2020

The Journal of Allergy and Clinical Immunology

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4 March 2020

132

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4 March 2020

3

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4 March 2020

656-664.e17

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4 March 2020

Personal genomes, quantitative dynamic omics and personalized medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Systems biology: personalized medicine for the future?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA and HMIA with immunodeficiency over the last 50 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Performance comparison of exome DNA sequencing technologies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Signatures of murine B-cell development implicate Yy1 as a regulator of the germinal center-specific program

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Hereditary multiple intestinal atresias: 2 new cases and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Circos: an information aesthetic for comparative genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Hereditary multiple intestinal atresia: thirty years later

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Donor immune reconstitution after liver-small bowel transplantation for multiple intestinal atresia with immunodeficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Atresias of the gastrointestinal tract in an inbred, previously unstudied population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Graft-versus-host disease after liver and small bowel transplantation in a child

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Multiple areas of intestinal atresia associated with immunodeficiency and posttransfusion graft-versus-host disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Hereditary multiple intestinal atresia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

6 July 2018

Familial multiple-level intestinal atresias: Report of two siblings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

28 July 2018

Age-related loss of bone marrow pre-B- and immature B-lymphocytes in the autoimmune-prone flaky skin mutant mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

27 October 2018

Multiple gastrointestinal atresias in two consecutive siblings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

27 October 2018

Two subsets of naive T helper cells with distinct T cell receptor excision circle content in human adult peripheral blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

27 October 2018

The peripheral lymphoid compartment is disrupted in flaky skin mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759618

27 October 2018

Multiple hereditary gastrointestinal atresias: study of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperactivation and proliferation of lymphocytes from the spleens of flaky skin (fsn) mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of an infant with severe combined immunodeficiency by newborn screening.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The novel tetratricopeptide repeat domain 7 mutation, Ttc7fsn-Jic, with deletion of the TPR-2B repeat causes severe flaky skin phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial intestinal polyatresia syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immune deficiency in familial duodenal atresia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lymphadenopathy, elevated serum IgE levels, autoimmunity, and mast cell accumulation in flaky skin mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A syndrome involving immunodeficiency and multiple intestinal atresias

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutant mouse with severe anemia and skin abnormalities controlled by a new allele of the flaky skin (fsn) locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expansion of CD22lo B cells in the spleen of autoimmune-prone flaky skin mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary erythroblastic anaemia in the laboratory mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum

1 reference

https://pubmed.ncbi.nlm.nih.gov/23830146

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JACI.2013.06.013

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830146%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

PMC publication ID

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Europe PubMed Central

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4 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23830146%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

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