Articles with "fumarate hydratase" as a keyword



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Identification of zebrafish fumarate hydratase active site by molecular docking and simulation studies

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Published in 2020 at "Journal of Biomolecular Structure and Dynamics"

DOI: 10.1080/07391102.2020.1824812

Abstract: Abstract Fumarate hydratase (FH), one of the members of TCA cycle, acts as a catalyte for the synthesis of malate from fumarate. FH has been proposed to play as a tumour suppressor leading to the… read more here.

Keywords: molecular docking; active site; fumarate; fumarate hydratase ... See more keywords

Fumarate Hydratase and S-(2-Succinyl)-Cysteine Immunohistochemistry Shows Evidence of Fumarate Hydratase Deficiency in 2% of Uterine Leiomyosarcomas: A Cohort Study of 348 Tumors

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Published in 2022 at "International Journal of Gynecological Pathology"

DOI: 10.1097/pgp.0000000000000918

Abstract: Approximately 1% to 1.5% of uterine leiomyomas are fumarate hydratase (FH)-deficient (FHd). A subset of these are associated with germline FH mutations. However, the prevalence and clinicopathologic characteristics of FHd uterine leiomyosarcoma (uLMS) remain unknown.… read more here.

Keywords: hydratase; immunohistochemistry; succinyl cysteine; fumarate hydratase ... See more keywords
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Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma

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Published in 2022 at "Annals of the New York Academy of Sciences"

DOI: 10.1111/nyas.14866

Abstract: Fumarate hydratase (FH) catalyzes the conversion of fumaric acid to L‐malic acid. Heterozygous variants of the human fumarate hydratase gene (FH) predispose to hereditary leiomyomatosis and renal cell cancer and, rarely, pheochromocytoma/paraganglioma (PPGL). No mosaic… read more here.

Keywords: pheochromocytoma paraganglioma; germline variants; fumarate hydratase; hydratase gene ... See more keywords
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Integrated Molecular Characterization of Fumarate Hydratase–deficient Renal Cell Carcinoma

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Published in 2021 at "Clinical Cancer Research"

DOI: 10.1158/1078-0432.ccr-20-3788

Abstract: Purpose: Fumarate hydratase–deficient renal cell carcinoma (FH-deficient RCC) is a rare but lethal subtype of RCC. Little is known about the genomic profile of FH-deficient RCC, and the therapeutic options for advanced disease are limited.… read more here.

Keywords: cell; hydratase deficient; deficient rcc; fumarate hydratase ... See more keywords
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Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma

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Published in 2023 at "Case Reports in Oncology"

DOI: 10.1159/000528697

Abstract: Abstract Tubulocystic carcinoma of the kidney (TC-RCC) is a rare renal tumor and has been recently included as a distinct entity in WHO classification of renal neoplasms. We report the case of a patient with… read more here.

Keywords: response pazopanib; fumarate hydratase; durable response; carcinoma ... See more keywords
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A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression

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Published in 2022 at "International Journal of Surgical Pathology"

DOI: 10.1177/10668969221074600

Abstract: Aims. Fumarate hydratase (FH)-deficient renal cell carcinoma (RCC) is a rare aggressive renal malignancy associated with hereditary leiomyomatosis and RCC syndrome (HLRCC). Tumors exhibiting heterogeneous (ie, patchy) FH loss by immunohistochemistry have rarely been described,… read more here.

Keywords: hydratase deficient; fumarate hydratase; rcc; deficient renal ... See more keywords
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Diffuse Carbonic Anhydrase 9 and GATA3 Expression in Fumarate Hydratase Deficient Renal Cell Carcinoma - A Case Report and Immunoprofile Review.

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Published in 2023 at "International journal of surgical pathology"

DOI: 10.1177/10668969231167486

Abstract: Fumarate hydratase deficient renal cell carcinoma (FHRCC) can exhibit a heterogenous immunoprofile. In the present case, a solitary 10.5 cm mixed cystic and solid left kidney tumor showed various growth patterns, involving renal sinus adipose tissue… read more here.

Keywords: cell; carbonic anhydrase; fumarate hydratase; gata3 expression ... See more keywords
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Prognostic and predictive role of fumarate hydratase in metastatic clear cell renal cell carcinoma.

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Published in 2018 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2018.36.6_suppl.617

Abstract: 617Background: Metabolic disruption is frequent in renal cell carcinoma (RCC). Loss of the mitochondrial fumarate hydratase (FH) enzyme is associated with enhanced glycolytic metabolism, angiogenesis and clinical aggressiveness in type 2 papillary RCC. However, FH… read more here.

Keywords: renal cell; cell carcinoma; fumarate hydratase; cell ... See more keywords
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A Missense Mutation c.1132G > A in Fumarate Hydratase (FH) Leads to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome and Insights into Clinical Management in Uterine Leiomyomata

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Published in 2023 at "Genes"

DOI: 10.3390/genes14030744

Abstract: Background: HLRCC syndrome is a hereditary cancer predisposition syndrome caused by heterozygous germline pathogenic variant of the fumarate hydratase (FH) gene and characterized by cutaneous leiomyomas (CL), uterine leiomyomas (UL), and renal cell carcinoma (RCC).… read more here.

Keywords: uterine leiomyomata; cell; hlrcc syndrome; fumarate hydratase ... See more keywords
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Serum Anti-Fumarate Hydratase Autoantibody as a Biomarker for Predicting Prognosis of Acute-on-Chronic Liver Failure.

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Published in 2022 at "Gut and liver"

DOI: 10.5009/gnl220022

Abstract: Background/Aims To investigate the autoantibody against fumarate hydratase (FH), which is a specific liver failure-associated antigen (LFAA) and determine whether it can be used as a biomarker to evaluate the prognosis of acute-on-chronic liver failure… read more here.

Keywords: liver failure; prognosis; aclf patients; fumarate hydratase ... See more keywords