×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
Biomarker
disease
GENOMICS_ENGLAND
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
27302973
2017
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GeneticVariation
disease
UNIPROT
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.
25534311
2015
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GeneticVariation
disease
UNIPROT
Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.
25745186
2015
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
Biomarker
disease
GENOMICS_ENGLAND
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
24417819
2014
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GeneticVariation
disease
UNIPROT
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
24417819
2014
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GermlineCausalMutation
disease
ORPHANET
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
25174867
2014
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GermlineCausalMutation
disease
ORPHANET
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
24417819
2014
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GeneticVariation
disease
UNIPROT
Here, we present clinical progress of an infant with multiple intestinal atresia and combined immunodeficiency who carries novel compound heterozygote mutations in TTC7A gene.
24931897
2014
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
Biomarker
disease
GENOMICS_ENGLAND
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
25174867
2014
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GeneticVariation
disease
UNIPROT
We have established that HMIA associated with a TTC7A defect is characterized by multiorgan impairments.
25546680
2014
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GeneticVariation
disease
UNIPROT
Our data indicate that TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells, and which impairs immune cell homeostasis, thereby promoting MIA -CID development.
24292712
2014
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GeneticVariation
disease
UNIPROT
Based on our genetic results, TTC7A is the likely causal gene for MIA .
23423984
2013
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
Biomarker
disease
GENOMICS_ENGLAND
Based on our genetic results, TTC7A is the likely causal gene for MIA .
23423984
2013
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GeneticVariation
disease
UNIPROT
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
23830146
2013
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
GermlineCausalMutation
disease
ORPHANET
Based on our genetic results, TTC7A is the likely causal gene for MIA .
23423984
2013
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
Biomarker
disease
CTD_human
×
Entrez Id:
57217
Gene Symbol:
TTC7A
TTC7A
0.760
Biomarker
disease
GENOMICS_ENGLAND