DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
hearing impairment
|
0.460 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Childhood onset
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.060 |
Biomarker
|
disease |
BEFREE |
This chromosomal region is known to contain genes for human diseases such as non-syndromic autosomal recessive deafness (DFNB8/10) and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
|
9325172 |
1997 |
Polyglandular Type I Autoimmune Syndrome
|
0.020 |
Biomarker
|
disease |
BEFREE |
This chromosomal region is known to contain genes for human diseases such as non-syndromic autosomal recessive deafness (DFNB8/10) and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
|
9325172 |
1997 |
Autoimmune polyendocrinopathy syndrome, type 1
|
0.010 |
Biomarker
|
disease |
BEFREE |
This chromosomal region is known to contain genes for human diseases such as non-syndromic autosomal recessive deafness (DFNB8/10) and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
|
9325172 |
1997 |
Polyglandular Type I Autoimmune Syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Given its mapping position, C21orf2 is a candidate for involvement in disorders including autoimmune polyglandular disease type I (also called autoimmune polyendocrinopathy candidiasis ectodermal dystrophy or APECED) and the autosomal nonsyndromic deafness loci, DFNB8 and DFNB10.
|
9465297 |
1998 |
Nonsyndromic Deafness
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.
|
10950923 |
2000 |
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Here, we have used a polymerase chain reaction (PCR)-based strategy to clone Tumor Associated Differentially-expressed Gene-12 (TADG-12), a new serine protease from ovarian carcinoma.
|
11068177 |
2000 |
Tumor Cell Invasion
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Thus, TMPRSS3 is a novel membrane-bound serine protease overexpressed in cancer, which may be of importance for processes involved in metastasis formation and tumor invasion.
|
10825129 |
2000 |
Malignant Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Thus, TMPRSS3 is a novel membrane-bound serine protease overexpressed in cancer, which may be of importance for processes involved in metastasis formation and tumor invasion.
|
10825129 |
2000 |
Carcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Semi-quantitative PCR showed that TADG-12 is overexpressed in 41 of 55 ovarian cancer specimens relative to normal expression, and the variant form, TADG-12V is found at increased levels in 8 of 22 carcinomas examined.
|
11068177 |
2000 |
Pancreatic carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The 2.3-kb mRNA of the gene, named TMPRSS3, is strongly expressed in a subset of pancreatic cancer and various other cancer tissues, and its expression correlates with the metastatic potential of the clonal SUIT-2 pancreatic cancer cell lines.
|
10825129 |
2000 |
Malignant neoplasm of pancreas
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The 2.3-kb mRNA of the gene, named TMPRSS3, is strongly expressed in a subset of pancreatic cancer and various other cancer tissues, and its expression correlates with the metastatic potential of the clonal SUIT-2 pancreatic cancer cell lines.
|
10825129 |
2000 |
Primary malignant neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Thus, TMPRSS3 is a novel membrane-bound serine protease overexpressed in cancer, which may be of importance for processes involved in metastasis formation and tumor invasion.
|
10825129 |
2000 |
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
|
11462234 |
2001 |
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
|
11424922 |
2001 |
Nonsyndromic Deafness
|
0.380 |
Biomarker
|
disease |
CLINGEN |
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
|
11137999 |
2001 |
Sensorineural Hearing Loss (disorder)
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
We found evidence for linkage to the DFNB8/10 locus in two unrelated consanguineous Tunisian families segregating congenital autosomal recessive sensorineural deafness.
|
11462234 |
2001 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
|
11462234 |
2001 |
Deafness, Autosomal Recessive 10
|
0.020 |
Biomarker
|
disease |
BEFREE |
Here we report the identification of a new transmembrane serine protease (TMPRSS3; also known as ECHOS1) expressed in many tissues, including fetal cochlea, which is mutated in the families used to describe both the DFNB10 and DFNB8 loci.
|
11137999 |
2001 |
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |