(Q83612189)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21404119%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21404119%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

hereditary leiomyomatosis and renal cell cancer syndrome

1 reference

Heli J Lehtonen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21404119%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

publication date

1 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21404119%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21404119%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21404119%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21404119%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

page(s)

397-411

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21404119%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10689-011-9428-z

25 January 2020

exact match

0 references

1 reference

12 December 2020

Type 2 segmental manifestation of cutaneous leiomyomatosis in four unrelated women with additional uterine leiomyomas (Reed's Syndrome)

1 reference

12 December 2020

Cancer. Puzzling patterns of predisposition

1 reference

12 December 2020

No fumarate hydratase (FH) mutations in hereditary prostate cancer

1 reference

12 December 2020

UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer

1 reference

12 December 2020

Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas

1 reference

12 December 2020

1 reference

12 December 2020

Etiology and pathogenesis of uterine leiomyomas: a review

1 reference

12 December 2020

Nucleotide sequence of a cDNA coding for mitochondrial fumarase from human liver

1 reference

12 December 2020

Conventional renal cancer in a patient with fumarate hydratase mutation

1 reference

12 December 2020

Cutaneous leiomyomata with uterine leiomyomata

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular and biochemical investigations in fumarase deficiency

1 reference

12 December 2020

Increasing reactive oxygen species as a therapeutic approach to treat hereditary leiomyomatosis and renal cell carcinoma

1 reference

12 December 2020

Oncological outcomes of partial nephrectomy for multifocal renal cell carcinoma greater than 4 cm

1 reference

12 December 2020

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome

1 reference

12 December 2020

Differential metabolic consequences of fumarate hydratase and respiratory chain defects

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12 December 2020

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

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12 December 2020

Reactivating HIF prolyl hydroxylases under hypoxia results in metabolic catastrophe and cell death.

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12 December 2020

Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: Genetic linkage analysis and FISH studies

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12 December 2020

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

1 reference

12 December 2020

LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer

1 reference

12 December 2020

Inherited susceptibility to uterine leiomyomas and renal cell cancer

1 reference

12 December 2020

A case report of hereditary leiomyomatosis and renal cell cancer

1 reference

12 December 2020

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

1 reference

12 December 2020

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy

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12 December 2020

Fumarase tumor suppressor gene and MET oncogene cooperate in upholding transformation and tumorigenesis.

1 reference

12 December 2020

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation

1 reference

12 December 2020

Hereditary kidney cancer: unique opportunity for disease-based therapy.

1 reference

12 December 2020

Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene.

1 reference

12 December 2020

HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron

1 reference

12 December 2020

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

1 reference

12 December 2020

Searching for the hereditary causes of renal-cell carcinoma

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12 December 2020

The prevalence of simple renal and hepatic cysts detected by spiral computed tomography

1 reference

12 December 2020

Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer

1 reference

12 December 2020

Adaptive landscapes and emergent phenotypes: why do cancers have high glycolysis?

1 reference

12 December 2020

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

1 reference

12 December 2020

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

1 reference

12 December 2020

Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response

1 reference

12 December 2020

Increased risk of cancer in patients with fumarate hydratase germline mutation

1 reference

12 December 2020

Targeted therapies for non-clear renal cell carcinoma

1 reference

12 December 2020

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata

1 reference

12 December 2020

Presence of two forms of fumarase (fumarate hydratase E.C. 4.2.1.2) in mammalian cells: immunological characterization and genetic analysis in somatic cell hybrids. Confirmation of the assignment of a gene necessary for the enzyme expression to huma

1 reference

12 December 2020

Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway

1 reference

12 December 2020

Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species.

1 reference

12 December 2020

Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations

1 reference

12 December 2020

Distinct expression profile in fumarate-hydratase-deficient uterine fibroids

1 reference

12 December 2020

Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors

1 reference

12 December 2020

Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer

1 reference

12 December 2020

1 reference

12 December 2020

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

1 reference

12 December 2020

Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer

1 reference

12 December 2020

Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing

1 reference

12 December 2020

The role of hypoxia inducible factor 1 (HIF-1) in hypoxia induced apoptosis

1 reference

12 December 2020

Fibroids and infertility: an updated systematic review of the evidence

1 reference

12 December 2020

Folding of fumarase during mitochondrial import determines its dual targeting in yeast

1 reference

12 December 2020

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

1 reference

12 December 2020

Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma.

1 reference

12 December 2020

Compensatory alterations in energy homeostasis characterized in uterine tumors from hereditary leiomyomatosis and renal cell cancer.

1 reference

12 December 2020

Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene

1 reference

12 December 2020

Cell-permeating alpha-ketoglutarate derivatives alleviate pseudohypoxia in succinate dehydrogenase-deficient cells

1 reference

12 December 2020

Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.

1 reference

12 December 2020

Activation of HIF-prolyl hydroxylases by R59949, an inhibitor of the diacylglycerol kinase.

1 reference

12 December 2020

A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein.

1 reference

12 December 2020

Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer

1 reference

12 December 2020

Expression profiling in progressive stages of fumarate-hydratase deficiency: the contribution of metabolic changes to tumorigenesis

1 reference

12 December 2020

Adult Leydig Cell Tumors of the Testis Caused by Germline Fumarate Hydratase Mutations

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

The frequency of uterine leiomyomas

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12 December 2020

Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.

1 reference

12 December 2020

Uterine myomas: management

1 reference

12 December 2020

Inhibition of hypoxia-inducible factor (HIF) hydroxylases by citric acid cycle intermediates: possible links between cell metabolism and stabilization of HIF.

1 reference

12 December 2020

IDH1 and IDH2 mutations in gliomas

1 reference

12 December 2020

Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer

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12 December 2020

THE METABOLISM OF TUMORS IN THE BODY

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12 December 2020

The natural history of simple renal cysts

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12 December 2020

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families

1 reference

12 December 2020

Mitochondrial tumour suppressors: a genetic and biochemical update

1 reference

12 December 2020

Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients

1 reference

12 December 2020

Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient

1 reference

12 December 2020

No germline FH mutations in familial breast cancer patients

1 reference

12 December 2020

Hypoxic regulation of glucose transport, anaerobic metabolism and angiogenesis in cancer: novel pathways and targets for anticancer therapeutics

1 reference

12 December 2020

Hereditary leiomyomatosis and renal cell cancer (HLRCC).

1 reference

12 December 2020

The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome

1 reference

12 December 2020

Multiple cutaneous and uterine leiomyomas associated with gastric GIST

1 reference

12 December 2020

HIF-dependent antitumorigenic effect of antioxidants in vivo

1 reference

12 December 2020

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

1 reference

12 December 2020

Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma.

1 reference

12 December 2020

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.

1 reference

12 December 2020

Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?

1 reference

12 December 2020

Novel, orally active selective progesterone receptor modulator CP8947 inhibits leiomyoma cell proliferation without adversely affecting endometrium or myometrium.

1 reference

12 December 2020

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

1 reference

12 December 2020

Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma

1 reference

12 December 2020

Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation

1 reference

12 December 2020

Uterine sarcomas: a review

1 reference

12 December 2020

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

1 reference

12 December 2020

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors

1 reference

12 December 2020

Multiple factors affecting cellular redox status and energy metabolism modulate hypoxia-inducible factor prolyl hydroxylase activity in vivo and in vitro

1 reference

12 December 2020