FAQ

TTC7A gene

Known as: TTC7, TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 7A, tetratricopeptide repeat domain 7A 
 

Topic mentions per year

Topic mentions per year

2013-2017
01220132017

Related topics

Related topics

1 relation

Broader (1)

Genes

Related mentions per year

Related mentions per year

1948-2018
19401960198020002020
TTC7A gene
Genes

Papers overview

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2018
2018
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.
Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal… (More)
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2016
2016
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane
Genetic defects in myelin formation and maintenance cause leukodystrophies, a group of white matter diseases whose mechanistic… (More)
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2016
2016
Ichthyosis as the dermatological phenotype associated with TTC7A mutations.
 
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Review
2015
Review
2015
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last… (More)
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2014
2014
TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
Multiple intestinal atresia (MIA) is a rare cause of bowel obstruction that is sometimes associated with a combined… (More)
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2014
2014
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
BACKGROUND & AIMS Very early onset inflammatory bowel diseases (VEOIBD), including infant disorders, are a diverse group of… (More)
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2014
2014
Multiple Intestinal Atresia With Combined Immune Deficiency Related to TTC7A Defect Is a Multiorgan Pathology
Hereditary multiple intestinal atresia (HMIA) is a rare cause of intestinal obstruction in humans associated with a profound… (More)
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2014
2014
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
BACKGROUND Inflammatory bowel disease (IBD) is one of the most common chronic gastrointestinal diseases, but the underlying… (More)
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2013
2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
BACKGROUND Congenital multiple intestinal atresia (MIA) is a severe, fatal neonatal disorder, involving the occurrence of… (More)
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2013
2013
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
BACKGROUND Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by… (More)
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