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TTC7A gene
Known as:
TTC7
, TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 7A
, tetratricopeptide repeat domain 7A
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National Institutes of Health
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1 relation
Broader (1)
Genes
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Diseases Caused by TTC7A Deficiency.
S. Jardine
,
Sierra Anderson
,
+13 authors
A. Muise
Gastroenterology
2019
Corpus ID: 208186623
BACKGROUND & AIMS Mutations in the tetratricopeptide repeat domain 7A gene (TTC7A) cause intestinal epithelial and immune defects…
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2019
2019
Epithelial proliferation in inflammatory skin disease is regulated by tetratricopeptide repeat domain 7 (Ttc7) in fibroblasts and lymphocytes
Ursina Nüesch
,
A. Mauracher
,
+8 authors
J. Pachlopnik Schmid
The Journal of allergy and clinical immunology
2019
Corpus ID: 21737026
2019
2019
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency
Marie-Thérèse El-Daher
,
J. Lemale
,
+11 authors
G. de Saint Basile
Front. Immunol.
2019
Corpus ID: 207759552
Mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or…
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Review
2015
Review
2015
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency
W. Yang
,
P. P. Lee
,
+9 authors
Y. Lau
Clinical genetics
2015
Corpus ID: 11912697
Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last…
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Highly Cited
2014
Highly Cited
2014
TTC7A mutations disrupt intestinal epithelial apicobasal polarity.
A. Bigorgne
,
H. Farin
,
+19 authors
G. de Saint Basile
The Journal of clinical investigation
2014
Corpus ID: 3378462
Multiple intestinal atresia (MIA) is a rare cause of bowel obstruction that is sometimes associated with a combined…
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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.
Y. Avitzur
,
Conghui Guo
,
+37 authors
A. Muise
Gastroenterology
2014
Corpus ID: 206232501
BACKGROUND & AIMS Very early onset inflammatory bowel diseases (VEOIBD), including infant disorders, are a diverse group of…
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Highly Cited
2014
Highly Cited
2014
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
R. Lemoine
,
Jana Pachlopnik-Schmid
,
+18 authors
G. de Saint Basile
The Journal of allergy and clinical immunology
2014
Corpus ID: 12196327
Highly Cited
2013
Highly Cited
2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
M. Samuels
,
J. Majewski
,
+17 authors
B. Maranda
Journal of Medical Genetics
2013
Corpus ID: 14536353
Background Congenital multiple intestinal atresia (MIA) is a severe, fatal neonatal disorder, involving the occurrence of…
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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.
R. Chen
,
S. Giliani
,
+28 authors
L. Notarangelo
The Journal of allergy and clinical immunology
2013
Corpus ID: 3555388
2005
2005
Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.
Robert A. H. White
,
Steven G. McNulty
,
N. N. Nsumu
,
L. Boydston
,
B. Brewer
,
Koji Shimizu
Genomics
2005
Corpus ID: 29289506
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