Malignant neoplasm of breast
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We detected RSPO2 and RSPO4 overexpression levels in BC, particularly in triple-negative BC (TNBC), metaplastic BC, and triple-negative cell lines.
|
28472820 |
2017 |
Breast Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We detected RSPO2 and RSPO4 overexpression levels in BC, particularly in triple-negative BC (TNBC), metaplastic BC, and triple-negative cell lines.
|
28472820 |
2017 |
XX males
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Germline RSPO4 and RSPO1 mutations result in recessive anonychia (absence of all fingernails and toenails) and a recessive syndrome with XX-male sex reversal, PPK and a predisposition to SCC, respectively.
|
17426450 |
2007 |
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.
|
29274321 |
2018 |
Memory performance
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.
|
29274321 |
2018 |
ANONYCHIA
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Deactivating mutations in R-spondin 4 are associated with anonychia.
|
28247548 |
2017 |
ANONYCHIA
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
|
22300369 |
2013 |
ANONYCHIA
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Here, we expand the RSPO4 mutational spectrum by identification of the previously unknown mutations c.190C>T (p.Arg64Cys) in exon 2 and c.301C>T (p.Gln101X) in exon 3, thereby corroborating R-spondin 4 as the major protein in autosomal-recessive anonychia.
|
17914448 |
2008 |
ANONYCHIA
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
|
17805348 |
2008 |
ANONYCHIA
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
|
17186469 |
2006 |
ANONYCHIA
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
|
17041604 |
2006 |
ANONYCHIA
|
0.660 |
Biomarker
|
disease |
HPO |
|
|
|
ANONYCHIA
|
0.660 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
ANONYCHIA
|
0.660 |
Biomarker
|
disease |
CTD_human |
|
|
|
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
|
17914448 |
2008 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
|
17914448 |
2008 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
|
17041604 |
2006 |
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|