Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer (Q34558244)

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English	Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

1 reference

based on heuristic

inferred from title

hereditary leiomyomatosis and renal cell cancer syndrome

1 reference

based on heuristic

inferred from title

author name string

M-H Wei

1

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Europe PubMed Central

PubMed publication ID

3 August 2017

O Toure

2

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PubMed publication ID

3 August 2017

G M Glenn

3

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3 August 2017

M Pithukpakorn

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

L Neckers

5

1 reference

Europe PubMed Central

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3 August 2017

C Stolle

6

1 reference

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3 August 2017

P Choyke

7

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

R Grubb

8

1 reference

Europe PubMed Central

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3 August 2017

L Middelton

9

1 reference

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3 August 2017

M L Turner

10

1 reference

Europe PubMed Central

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3 August 2017

M M Walther

11

1 reference

Europe PubMed Central

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3 August 2017

M J Merino

12

1 reference

Europe PubMed Central

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3 August 2017

B Zbar

13

1 reference

Europe PubMed Central

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3 August 2017

W M Linehan

14

1 reference

Europe PubMed Central

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3 August 2017

J R Toro

15

1 reference

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3 August 2017

language of work or name

0 references

publication date

3 June 2005

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3 August 2017

Journal of Medical Genetics

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3 August 2017

43

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3 August 2017

1

1 reference

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3 August 2017

18-27

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Europe PubMed Central

PubMed publication ID

3 August 2017

HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Hereditary paraganglioma targets diverse paraganglia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Bcl-2 family members and functional electron transport chain regulate oxygen deprivation-induced cell death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Inherited susceptibility to uterine leiomyomas and renal cell cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

The von Hippel-Lindau tumor suppressor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Uterine fibroids.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Amplification of glutamate-induced oxidative stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Binding of the von Hippel-Lindau Tumor Suppressor Protein to Elongin B and C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Inhibition of Transcription Elongation by the VHL Tumor Suppressor Protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Collecting duct carcinoma: cytogenetic characterization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

7 July 2018

Glutamine protects activated human T cells from apoptosis by up-regulating glutathione and Bcl-2 levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

27 October 2018

Relationship between platelet-derived growth factor expression in leiomyomas and uterine volume changes after gonadotropin-releasing hormone agonist treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564499

27 October 2018

Expression of von Willebrand's factor, CD34, CD31, and vascular endothelial growth factor in uterine leiomyomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937070

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937070

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collecting duct carcinoma of the kidney

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937070

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High-density mapping of chromosomal arm 1q in renal collecting duct carcinoma: region of minimal deletion at 1q32.1-32.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937070

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imaging features of hereditary papillary renal cancers

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937070

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variation in the Incidence of Uterine Leiomyoma Among Premenopausal Women by Age and Race

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937070

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis and prenatal diagnosis of human fumarase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15937070

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.033506

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

ResearchGate publication ID

0 references

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