(Q59823105)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18416845%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family (English)

1 reference

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5 January 2020

2

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5 January 2020

author name string

Attila Patocs

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18416845%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Katalin Balogh

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18416845%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Miklos Toth

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18416845%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Ferenc Fazakas

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18416845%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Istvan Liko

6

1 reference

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5 January 2020

Karoly Racz

7

1 reference

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5 January 2020

language of work or name

English

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publication date

16 April 2008

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5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18416845%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

volume

9

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5 January 2020

page(s)

29

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https://scigraph.springernature.com/pub.10.1186/1471-2350-9-29

5 January 2020

issue

1

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exact match

0 references

cites work

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene

1 reference

12 December 2020

VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study

1 reference

12 December 2020

Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene

1 reference

12 December 2020

Fibronectin is a hypoxia-independent target of the tumor suppressor VHL.

1 reference

12 December 2020

Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

1 reference

12 December 2020

3DCoffee: combining protein sequences and structures within multiple sequence alignments.

1 reference

12 December 2020

Clinical and biochemical features of sporadic and hereditary phaeochromocytomas: an analysis of 41 cases investigated in a single endocrine centre

1 reference

12 December 2020

Amino acid difference formula to help explain protein evolution

1 reference

12 December 2020

Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus

1 reference

12 December 2020

Von Hippel-Lindau disease: a genetic study

1 reference

12 December 2020

Identification of the von Hippel-Lindau disease tumor suppressor gene

1 reference

12 December 2020

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype

1 reference

12 December 2020

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype

1 reference

12 December 2020

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations

1 reference

12 December 2020

Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe

1 reference

12 December 2020

The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins

1 reference

12 December 2020

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

1 reference

12 December 2020

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

12 December 2020

Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

1 reference

12 December 2020

A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor.

1 reference

12 December 2020

pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation

1 reference

12 December 2020

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

1 reference

12 December 2020

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

1 reference

12 December 2020

Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.

1 reference

12 December 2020

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

1 reference

12 December 2020

Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein

1 reference

12 December 2020

Genotype-phenotype correlation in von Hippel-Lindau syndrome

1 reference

12 December 2020

Is the P25L a "real" VHL mutation?

1 reference

12 December 2020

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

1 reference

12 December 2020

Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

1 reference

12 December 2020

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

1 reference

12 December 2020

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-9-29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18416845%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18416845%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference