Ter Haar syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
Macro-examination of skulls from Tks4-deficient mice revealed craniofacial malformations that were very similar to symptoms of the FTHS patient.
|
30962481 |
2019 |
Ter Haar syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
Our group recently showed that the Frank-ter Haar syndrome protein Tks4 (tyrosine kinase substrate with four Src homology 3 domains) is also involved in EGF signaling.
|
29928795 |
2018 |
Ter Haar syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
We report the first description of a Moroccan FTHS patient with two novel compound heterozygous mutations c.806G>A; p.Trp269* (maternal allele) and c.892delC; p.Asp299Thrfs*44 (paternal allele) in the SH3PXD2B gene.
|
28694206 |
2017 |
Ter Haar syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that misfolded Frank-ter Haar syndrome protein Tks4(R43W) is transported via the microtubule system to the aggresomes.
|
26183326 |
2015 |
Ter Haar syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
SH3PXD2B is required for the formation of functional podosomes, and loss-of-function mutations in SH3PXD2B have recently been shown to underlie 7 of 13 families with Frank-Ter Haar syndrome (FTHS).
|
24105366 |
2014 |
Ter Haar syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, a PX domain mutant (R43W) Tks4 carrying a reported point mutation in a Frank-ter Haar syndrome patient showed aberrant intracellular expression and reduced phosphoinositide binding.
|
22829589 |
2012 |
Ter Haar syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1.
|
23140272 |
2012 |
Ter Haar syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1.
|
23140272 |
2012 |
Ter Haar syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families.
|
20137777 |
2010 |
Ter Haar syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families.
|
20137777 |
2010 |
Ter Haar syndrome
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families.
|
20137777 |
2010 |
Ter Haar syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families.
|
20137777 |
2010 |
Ter Haar syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Melnick-Needles syndrome: indication for an autosomal recessive form.
|
7158646 |
1982 |
Ter Haar syndrome
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Ter Haar syndrome
|
0.780 |
Biomarker
|
disease |
CTD_human |
|
|
|
Ter Haar syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Ter Haar syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Glaucoma
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Here, we use immunohistochemistry to describe localization of the SH3PXD2B protein throughout the adult human eye and test whether sequence variants in SH3PXD2B occur in multiple other forms of glaucoma.
|
22509100 |
2012 |
hearing impairment
|
0.310 |
GeneticVariation
|
phenotype |
BEFREE |
We examined the effects of a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) on the progression of otitis media and hearing impairment at various developmental stages.
|
21818352 |
2011 |
hearing impairment
|
0.310 |
Biomarker
|
phenotype |
CTD_human |
The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.
|
19669234 |
2009 |
Glaucoma
|
0.310 |
Biomarker
|
disease |
HPO |
|
|
|
Glaucoma
|
0.310 |
Biomarker
|
disease |
MGD |
|
|
|
Bone Diseases, Developmental
|
0.300 |
Biomarker
|
group |
CTD_human |
The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.
|
19669234 |
2009 |
Eye Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.
|
19669234 |
2009 |
Growth Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.
|
19669234 |
2009 |