(Q36731136)

15 August 2017

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title

Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer (English)

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hereditary leiomyomatosis and renal cell cancer syndrome

15 August 2017

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2

Peter A Pinto

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15 August 2017

3

Len Neckers

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15 August 2017

Sunil Sudarshan

1

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15 August 2017

W Marston Linehan

series ordinal

4

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15 August 2017

language of work or name

English

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publication date

1 February 2007

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15 August 2017

published in

Nature Reviews Urology

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15 August 2017

volume

4

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15 August 2017

issue

2

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15 August 2017

page(s)

104-110

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

15 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

Inherited susceptibility to uterine leiomyomas and renal cell cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

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://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Genotype-phenotype correlation in von Hippel-Lindau syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Mutations of the VHL tumour suppressor gene in renal carcinoma

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Mitochondrial tumour suppressors: a genetic and biochemical update

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

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://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Molecular basis of the VHL hereditary cancer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

The von Hippel-Lindau Gene, Kidney Cancer, and Oxygen Sensing

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Regulation of angiogenesis by hypoxia: role of the HIF system

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

The genetic basis of cancer of the kidney

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

A conserved family of prolyl-4-hydroxylases that modify HIF

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

The genetic determination of fumarase isozymes in human tissues

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Genetic basis of cancer of the kidney: disease-specific approaches to therapy.

1 reference

https://api.crossref.org/works/10.1038%2FNCPURO0711

7 January 2021

Identifiers

DOI

10.1038/NCPURO0711

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Dimensions Publication ID

15 August 2017

1017304882

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1 reference