Von Hippel-Lindau Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Chondrosarcoma has been described before in a VHL patient and VHL protein expression has been correlated to tumor grade in a series of sporadic chondrosarcomas.
|
31673890 |
2020 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We reported two cases in which a novel mutation site in the c530-536delGACTGGA region in exon 3 of the VHL gene resulted in the development of VHL syndrome.
|
31823746 |
2019 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We evaluated a synonymous VHL variant in patients with familial PHEO or VHL disease without a detectable pathogenic VHL mutation.
|
30946460 |
2019 |
Von Hippel-Lindau Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
One of the major consequences of the lack of a functional VHL protein in von Hippel-Lindau disease, a rare cancer, is the constitutive activation of the HIF pathway.
|
31296894 |
2019 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, rare variants in the VHL gene promoter may be detected in some cases of suspected VHL disease.
|
30006056 |
2019 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations.
|
31176917 |
2019 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Despite the discovery of the oxygen-sensitive regulation of HIFα by the von Hippel-Lindau (VHL) protein, the mechanisms underlying the complex genotype/phenotype correlations in VHL disease remain unknown.
|
31375625 |
2019 |
Von Hippel-Lindau Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In addition, SUMOylation of MITF modulates renal tumors secondary to melanoma, Similarly, SUMOylation of tumor suppressor gene VHL regulates the occurrence of renal cell carcinoma in VHL syndrome.
|
30707172 |
2019 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Von-Hippel Lindau (VHL) disease is rare neurocutaneous disorder arising from an inactivating mutation of the VHL gene on chromosome 3p35.
|
30780037 |
2019 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Arginine refolds, stabilizes, and restores function of mutant pVHL proteins in animal model of the VHL cancer syndrome.
|
30194449 |
2019 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Von Hippel-Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3.
|
29601266 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Briefly, a family suffering from VHL syndrome in a Chinese Han population was recruited, and a missense mutation (c.345 C>A: p.H115Q) was revealed to be present within the VHL gene in the proband.
|
29749453 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline VHL gene variant in patients with von Hippel-Lindau disease does not predict renal tumor growth.
|
29525880 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
VHL gene mutations were documented in 3/9 cases in which DNA from peripheral blood lymphocytes was used, all with clinically manifest von Hippel-Lindau disease; instead, no VHL gene alterations were found in all of the 8 cases with sporadic extraneuraxial hemangioblastoma in which DNA from tumor tissue was analyzed.
|
29941223 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
|
29748190 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Computational models for predicting the impact of missense VHL gene mutations may be used as a prognostic factor in patients with PNETs in the context of vHL disease.
|
29294023 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genotype and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-α binding site in VHL protein.
|
29595810 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.
|
28849724 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genetic screening to evaluate the SDHB, SDHD, RET, CDKN1B, and VHL genes was requested in order to test for Von Hippel Lindau disease, but unexpectedly all of these were negative.
|
29860716 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Tumors with monoallelic inactivation of VHL underexpressed REDD1 in comparison to wtVHL tumors (P = 0.042), tumors with biallelic VHL inactivation (P < 0.005) and control tissue (P = 0.004).
|
30581339 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease.
|
30477447 |
2018 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability.
|
28388566 |
2017 |
Von Hippel-Lindau Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.
|
28469506 |
2017 |
Von Hippel-Lindau Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant cancer syndrome caused by alterations of VHL gene.
|
28776935 |
2017 |
Von Hippel-Lindau Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Germline inactivation of the von Hippel-Lindau (VHL) tumor suppressor predisposes patients to develop different highly vascularized cancers. pVHL targets the hypoxia-inducible transcription factor (HIF-1α) for degradation, modulating the activation of various genes involved in hypoxia response.
|
28425505 |
2017 |