T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
GeneticVariation
|
disease |
BEFREE |
A mutation in FoxN1 generates alymphoid cystic thymic dysgenesis due to defective TECs, causing primary T-cell immunodeficiency, named Nude/SCID syndrome, and leads to a hairless "nude" phenotype in both mice and humans.
|
24432845 |
2014 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
MGD |
Foxn1 regulates lineage progression in cortical and medullary thymic epithelial cells but is dispensable for medullary sublineage divergence.
|
22072979 |
2011 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
MGD |
T cell deficiency leads to cognitive dysfunction: implications for therapeutic vaccination for schizophrenia and other psychiatric conditions.
|
15141078 |
2004 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.
|
15180707 |
2004 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation.
|
11159512 |
2001 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
MGD |
Forkhead/winged-helix transcription factor Whn regulates hair keratin gene expression: molecular analysis of the nude skin phenotype.
|
10767081 |
2000 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
GermlineCausalMutation
|
disease |
ORPHANET |
Exposing the human nude phenotype.
|
10206641 |
1999 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Exposing the human nude phenotype.
|
10206641 |
1999 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs.
|
8911612 |
1996 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
MGD |
Two genetically separable steps in the differentiation of thymic epithelium.
|
8629026 |
1996 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
MGD |
Thymus dysgenesis in nude (nu nu) mice.
|
5493276 |
1970 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
MGD |
The lymphoid tissues in mice with congenital aplasia of the thymus.
|
5784127 |
1969 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
MGD |
Absence of thymus in a mouse mutant.
|
5639157 |
1968 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
MGD |
'Nude', a new hairless gene with pleiotropic effects in the mouse.
|
5980117 |
1966 |
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
CTD_human |
|
|
|
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
T-cell immunodeficiency, congenital alopecia and nail dystrophy
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DiGeorge Syndrome
|
0.230 |
GeneticVariation
|
disease |
BEFREE |
Thymic hypoplasia/aplasia occurs as a part of DiGeorge syndrome, which has several known genetic causes, and with loss-of-function mutations in forkhead box N1 (FOXN1).
|
31600545 |
2020 |
DiGeorge Syndrome
|
0.230 |
GeneticVariation
|
disease |
BEFREE |
The mice with the Foxn1 compound heterozygous mutations had thymic hypoplasia, causing a T-B+NK+ SCID phenotype, whereas the hair and nails of these mice were normal.
|
31566583 |
2019 |
DiGeorge Syndrome
|
0.230 |
AlteredExpression
|
disease |
BEFREE |
Our findings illustrate the complexities of the early steps of thymopoiesis and indicate that sporadic forms of thymic hypoplasia in humans may result from the interaction of genes affecting the magnitude of BMP signalling and Foxn1 expression.
|
28819138 |
2017 |
DiGeorge Syndrome
|
0.230 |
Biomarker
|
disease |
MGD |
T cell deficiency leads to cognitive dysfunction: implications for therapeutic vaccination for schizophrenia and other psychiatric conditions.
|
15141078 |
2004 |
DiGeorge Syndrome
|
0.230 |
Biomarker
|
disease |
MGD |
Thymus dysgenesis in nude (nu nu) mice.
|
5493276 |
1970 |
DiGeorge Syndrome
|
0.230 |
Biomarker
|
disease |
MGD |
The lymphoid tissues in mice with congenital aplasia of the thymus.
|
5784127 |
1969 |
DiGeorge Syndrome
|
0.230 |
Biomarker
|
disease |
MGD |
Absence of thymus in a mouse mutant.
|
5639157 |
1968 |