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TTC7A gene

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

Related topics

Related topics

1 relation

Broader (1)

Genes

Papers overview

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2019
2019
Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency.
BACKGROUND & AIMS Mutations in the tetratricopeptide repeat domain 7A gene (TTC7A) cause intestinal epithelial and immune defects… Expand
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2019
2019
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency
Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or… Expand
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2018
2018
Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes
Background: Mutations in tetratricopeptide repeat domain 7A (TTC7A) and its mouse orthologue, Ttc7, result in a multisystemic… Expand
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2015
2015
The leukodystrophy protein FAM 126 A ( 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… Expand
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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… Expand
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Highly Cited
2014
Highly Cited
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… Expand
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Highly Cited
2014
Highly Cited
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… Expand
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Highly Cited
2013
Highly Cited
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… Expand
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Highly Cited
2013
Highly Cited
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… Expand
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2005
2005
Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.
Genes playing essential roles in iron homeostasis have yet to be identified. We report the discovery of a strong candidate gene… Expand
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