Results 11 to 20 of about 291 (129)
Fumarate hydratase in cancer: A multifaceted tumour suppressor [PDF]
Seminars in Cell & Developmental Biology, 2020 Cancer is now considered a multifactorial disorder with different aetiologies and outcomes. Yet, all cancers share some common molecular features. Among these, the reprogramming of cellular metabolism has emerged as a key player in tumour initiation and progression.
Schmidt, Christina +2 more
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Urology Case Reports, 2020 Tubulocystic renal cell carcinoma (RCC) is one of the newly recognized subtypes of RCC. It has a unique cystic morphology and indolent behavior.
Turki O. Al-Hussain +5 more
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FOXA2 controls the anti-oxidant response in FH-deficient cells
Cell Reports, 2023 Summary: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a cancer syndrome caused by inactivating germline mutations in fumarate hydratase (FH) and subsequent accumulation of fumarate. Fumarate accumulation leads to profound epigenetic changes
Connor Rogerson +14 more
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Metabolic reprogramming for producing energy and reducing power in fumarate hydratase null cells from hereditary leiomyomatosis renal cell carcinoma. [PDF]
PLoS ONE, 2013 Fumarate hydratase (FH)-deficient kidney cancer undergoes metabolic remodeling, with changes in mitochondrial respiration, glucose, and glutamine metabolism.
Youfeng Yang +11 more
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Metabolites, 2023 Tumor onset and its progression are strictly linked to its metabolic rewiring on the basis of the Warburg effect. In this context, fumarate emerged as a putative oncometabolite mediating cancer progression.
Sebastiano Giallongo +11 more
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Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report
BMC Medical Genetics, 2017 Background Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often ...
Melanie M. Y. Chan +7 more
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Structural basis of fumarate hydratase deficiency [PDF]
Journal of Inherited Metabolic Disease, 2011 AbstractFumarate hydratase catalyzes the stereospecific hydration across the olefinic double bond in fumarate leading to L‐malate. The enzyme is expressed in mitochondrial and cytosolic compartments, and participates in the Krebs cycle in mitochondria, as well as in regulation of cytosolic fumarate levels.
Picaud, S +7 more
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Uterine leiomyoma with fumarate hydratase deficiency
Medicine, 2021 Abstract Rationale: Hereditary leiomyomatosis and renal cell carcinoma is an uncommon autosomal dominant disease caused by mutations in the fumarate hydratase (FH) gene. They usually demonstrated multiple uterine myomas and preformed surgical procedures for myomectomy and/or hysterectomy 10 years earlier than sporadic
Yan Huang +6 more
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HIF and fumarate hydratase in renal cancer [PDF]
British Journal of Cancer, 2007 Hereditary leiomyomatosis and renal cell cancer is a recently described hereditary cancer syndrome in which affected individuals are predisposed to the development of leiomyomas of the skin and uterus. In addition, this clinical entity also can result in the development of biologically aggressive kidney cancer.
Sudarshan, S, Linehan, W M, Neckers, L
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Research progress on fumarate hydratase-deficient unterine leiomyoma [PDF]
Xin yixue, 2022 Fumarate hydratase （FH）-deficient uterine leiomyoma is a rare pathological type of uterine leiomyoma, which is caused by FH gene germ-line or system mutations, primarily the latter cause. Although this disease is rare, when it is a sentinel manifestation
Wang Qing, Zheng Jingying, Ding Lianying, Zhao Weixin, Wang Mengqi, Zhao Shuhua
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