FH

Summary

Gene Symbol: FH
Description: fumarate hydratase
Alias: FMRD, HLRCC, LRCC, MCL, MCUL1, fumarate hydratase, mitochondrial, fumarase
Species: human
Products:     FH

Top Publications

  1. Badeloe S, van Geel M, van Steensel M, Bastida J, Ferrando J, Steijlen P, et al. Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. Exp Dermatol. 2006;15:735-41 pubmed
    ..Both disorders result from heterozygous germline mutations in the fumarate hydratase (FH) gene that may function as a tumor suppressor...
  2. Bourgeron T, Chretien D, Poggi Bach J, Doonan S, Rabier D, Letouze P, et al. Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest. 1994;93:2514-8 pubmed
    We report an inborn error of the tricarboxylic acid cycle, fumarase deficiency, in two siblings born to first cousin parents. They presented with progressive encephalopathy, dystonia, leucopenia, and neutropenia...
  3. Coughlin E, Christensen E, Kunz P, Krishnamoorthy K, Walker V, Dennis N, et al. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab. 1998;63:254-62 pubmed
    b>Fumarase deficiency is a rare autosomal recessive disorder of the citric acid cycle causing severe neurological impairment. The cDNA for both the rat and human enzymes has been cloned previously and shown to encode a coding region of 1...
  4. Tomlinson I, Alam N, Rowan A, Barclay E, Jaeger E, Kelsell D, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002;30:406-10 pubmed
    ..Mutations in FH also occur in the recessive condition fumarate hydratase deficiency, and some parents of people with this condition ..
  5. Toro J, Nickerson M, Wei M, Warren M, Glenn G, Turner M, et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet. 2003;73:95-106 pubmed
    Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cancer...
  6. Wei M, Toure O, Glenn G, Pithukpakorn M, Neckers L, Stolle C, et al. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet. 2006;43:18-27 pubmed
    Hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839) is the predisposition to develop smooth muscle tumours of the skin and uterus and/or renal cancer and is associated with mutations in the fumarate hydratase gene (FH)...
  7. Isaacs J, Jung Y, Mole D, Lee S, Torres Cabala C, Chung Y, et al. HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell. 2005;8:143-53 pubmed
    Individuals with hemizygous germline fumarate hydratase (FH) mutations are predisposed to renal cancer...
  8. Alam N, Olpin S, Rowan A, Kelsell D, Leigh I, Tomlinson I, et al. Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. J Mol Diagn. 2005;7:437-43 pubmed
    Heterozygous germline mutations in fumarate hydratase (FH) predispose to the multiple cutaneous and uterine leiomyomatosis syndrome (MCUL), which, when co-existing with renal cancer, is also known as hereditary leiomyomatosis and renal ..
  9. Ylisaukko Oja S, Cybulski C, Lehtonen R, Kiuru M, Matyjasik J, Szymanska A, et al. Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. Eur J Hum Genet. 2006;14:880-3 pubmed
    ..shown to predispose to the dominantly inherited syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC)...

More Information

Publications125 found, 100 shown here

  1. Carvajal Carmona L, Alam N, Pollard P, Jones A, Barclay E, Wortham N, et al. Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. J Clin Endocrinol Metab. 2006;91:3071-5 pubmed
    ..identified an LCT in an affected individual from a kindred with hereditary leiomyomatosis and renal cell cancer (HLRCC) and a germline fumarate hydratase (FH) mutation (N64T)...
  2. Heinritz W, Paasch U, Sticherling M, Wittekind C, Simon J, Froster U, et al. Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). Ann Hum Genet. 2008;72:35-40 pubmed
    ..mutation screening and haplotyping in a family with the syndrome of multiple cutaneous and uterine leiomyomas (MCUL1) and a germline missense mutation (R58P) in the fumarate hydratase gene (FH)...
  3. Raimundo N, Ahtinen J, Fumic K, Baric I, Remes A, Renkonen R, et al. Differential metabolic consequences of fumarate hydratase and respiratory chain defects. Biochim Biophys Acta. 2008;1782:287-94 pubmed publisher
    ..A key enzyme of tricarboxylic cycle, fumarate hydratase (FH), is involved in encephalopathies, but also in leiomyoma formation, and occasionally also in various types of cancer...
  4. Sudarshan S, Sourbier C, Kong H, Block K, Valera Romero V, Yang Y, et al. Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species. Mol Cell Biol. 2009;29:4080-90 pubmed publisher
    Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer syndrome linked to biallelic inactivation of the gene encoding the tricarboxylic acid cycle enzyme fumarate hydratase (FH)...
  5. Yogev O, Yogev O, Singer E, Shaulian E, Goldberg M, Fox T, et al. Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response. PLoS Biol. 2010;8:e1000328 pubmed publisher
    In eukaryotes, fumarase (FH in human) is a well-known tricarboxylic-acid-cycle enzyme in the mitochondrial matrix...
  6. Smit D, Mensenkamp A, Badeloe S, Breuning M, Simon M, van Spaendonck K, et al. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet. 2011;79:49-59 pubmed publisher
    Heterozygous fumarate hydratase (FH) germline mutations cause hereditary leiomyomatosis and renal cell cancer (HLRCC), an autosomal dominant syndrome characterized by multiple cutaneous piloleiomyomas, uterine leiomyomas and papillary ..
  7. O Flaherty L, Adam J, Heather L, Zhdanov A, Chung Y, Miranda M, et al. Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism. Hum Mol Genet. 2010;19:3844-51 pubmed publisher
    Mutations in the gene encoding the Krebs cycle enzyme fumarate hydratase (FH) predispose to hereditary leiomyomatosis and renal cell cancer in affected individuals...
  8. Martinez Mir A, Glaser B, Chuang G, Horev L, Waldman A, Engler D, et al. Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol. 2003;121:741-4 pubmed
    ..mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine leiomyoma syndrome (MCL) and MCL associated with renal cell cancer...
  9. Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefevre S, Perrier Trudova V, et al. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet. 2011;48:226-34 pubmed publisher
    Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers (PRCCII) also occur with ..
  10. Linehan W, Rouault T. Molecular pathways: Fumarate hydratase-deficient kidney cancer--targeting the Warburg effect in cancer. Clin Cancer Res. 2013;19:3345-52 pubmed publisher
    Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a hereditary cancer syndrome in which affected individuals are at risk for development of cutaneous and uterine leiomyomas and an aggressive form of type II papillary kidney ..
  11. Schaefer I, Hornick J, Bovee J. The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms. Lab Invest. 2018;98:414-426 pubmed publisher
    ..Inactivating FH germline mutations are found in patients with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome comprising benign cutaneous/uterine leiomyomas and renal cell carcinoma...
  12. Perrier Trudova V, Huimin B, Kongpetch S, Huang D, Ong P, Le Formal A, et al. Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2. Anticancer Res. 2015;35:6639-53 pubmed
    Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare autosomal dominant disorder characterized by fumarate hydratase (FH) gene mutation...
  13. Martínek P, Grossmann P, Hes O, Bouda J, Eret V, Frizzell N, et al. Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC). Virchows Arch. 2015;467:185-91 pubmed publisher
    ..screening for the identification of female patients with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. Affected patients harbor a germ-line heterozygous mutation of the fumarate hydratase (FH) gene...
  14. Sulkowski P, Sundaram R, Oeck S, Corso C, Liu Y, Noorbakhsh S, et al. Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair. Nat Genet. 2018;50:1086-1092 pubmed publisher
    The hereditary cancer syndromes hereditary leiomyomatosis and renal cell cancer (HLRCC) and succinate dehydrogenase-related hereditary paraganglioma and pheochromocytoma (SDH PGL/PCC) are linked to germline loss-of-function mutations in ..
  15. Sun Y, Bandi M, Lofton T, Smith M, Bristow C, Carugo A, et al. Functional Genomics Reveals Synthetic Lethality between Phosphogluconate Dehydrogenase and Oxidative Phosphorylation. Cell Rep. 2019;26:469-482.e5 pubmed publisher
    ..Hereditary leiomyomatosis renal cell carcinoma (HLRCC) is characterized by oxidative phosphorylation (OXPHOS) deficiency caused by fumarate hydratase (FH) ..
  16. Udager A, Magers M, Goerke D, Vinco M, Siddiqui J, Cao X, et al. The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. Hum Pathol. 2018;71:47-54 pubmed publisher
    ..have been identified in a subset of PGL/PCC, and patients with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) may have an increased risk of developing PGL/PCC...
  17. da Cunha I, da Costa W, Morini M, Bezerra S, Carraro D, Torrezan G, et al. Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation. Virchows Arch. 2018;473:775-779 pubmed publisher
    ..Hereditary RCC represents 5 to 8% of kidney tumors. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) represents an autosomal dominant syndrome that results from a germline mutation in fumarate hydratase gene (FH)...
  18. Xu Y, Taylor P, Andrade J, Ueberheide B, Shuch B, Glazer P, et al. Pathologic Oxidation of PTPN12 Underlies ABL1 Phosphorylation in Hereditary Leiomyomatosis and Renal Cell Carcinoma. Cancer Res. 2018;78:6539-6548 pubmed publisher
    Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an inherited cancer syndrome associated with a highly aggressive form of type 2 papillary renal cell carcinoma (PRCC)...
  19. Johnson T, Costa A, Ferguson A, Frezza C. Fumarate hydratase loss promotes mitotic entry in the presence of DNA damage after ionising radiation. Cell Death Dis. 2018;9:913 pubmed publisher
    ..Inactivating germline mutations in FH cause hereditary leiomyomatosis and renal cell cancer (HLRCC), a cancer syndrome characterised by accumulation of fumarate...
  20. Arenas Valencia C, López Kleine L, Pinzon Velasco A, Cardona Barreto A, Arteaga Diaz C. Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation. Fam Cancer. 2018;17:587-599 pubmed publisher
    Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner...
  21. Linehan W, Pinto P, Bratslavsky G, Pfaffenroth E, Merino M, Vocke C, et al. Hereditary kidney cancer: unique opportunity for disease-based therapy. Cancer. 2009;115:2252-61 pubmed publisher
    ..Patients with hereditary leiomyomatosis RCC (HLRCC) are at risk for developing cutaneous and uterine leiomyomas and a very aggressive type of RCC...
  22. Bardella C, El Bahrawy M, Frizzell N, Adam J, Ternette N, Hatipoglu E, et al. Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. J Pathol. 2011;225:4-11 pubmed publisher
    ..encoding the Krebs cycle enzyme fumarate hydratase predispose to hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome...
  23. Frezza C, Zheng L, Folger O, Rajagopalan K, MacKenzie E, Jerby L, et al. Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature. 2011;477:225-8 pubmed publisher
    ..Germline mutations of FH are responsible for hereditary leiomyomatosis and renal-cell cancer (HLRCC)...
  24. Agaimy A, Amin M, Gill A, Popp B, Reis A, Berney D, et al. SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients. Hum Pathol. 2018;77:139-146 pubmed publisher
    Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a rare, aggressive RCC type, originally described in the setting of hereditary leiomyomatosis and RCC syndrome, which is defined by germline FH gene inactivation...
  25. Woolner K, O Toole A, Laberge L. First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. J Cutan Med Surg. 2016;20:334-6 pubmed publisher
    Reed's syndrome, also known as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome, is an autosomal dominant condition in which affected individuals may develop cutaneous leiomyomas, uterine fibroids, and renal cell ..
  26. Patel V, Handler M, Schwartz R, Lambert W. Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. J Am Acad Dermatol. 2017;77:149-158 pubmed publisher
    Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a rare genetic disorder that predisposes individuals to multiple cutaneous leiomyomas, renal cell carcinomas, and in women, uterine leiomyomas...
  27. Adams A, Sharpe K, Peters P, Freeman M. Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. BMJ Case Rep. 2017;2017: pubmed publisher
    ..tumours of smooth muscle origin associated with disorders such as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome...
  28. Dow E, Winship I. Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. Fam Cancer. 2019;18:91-95 pubmed publisher
  29. Ha Y, Chihara Y, Yoon H, Kim Y, Kim T, Woo S, et al. Downregulation of fumarate hydratase is related to tumorigenesis in sporadic renal cell cancer. Urol Int. 2013;90:233-9 pubmed publisher
    Although germline mutations of fumarate hydratase (FH) are a useful molecular marker of hereditary leiomyomatosis and renal cell cancer (RCC) syndrome, their clinical significance in sporadic RCC has not been studied in detail...
  30. Zeravik J, Fohlerová Z, Milovanovic M, Kubesa O, Zeisbergerova M, Lacina K, et al. Various instrumental approaches for determination of organic acids in wines. Food Chem. 2016;194:432-40 pubmed publisher
    Biosensors based on lactate oxidase, sarcosine oxidase and mixture of fumarase and sarcosine oxidase were used for monitoring of organic acids in wine samples...
  31. Wang C, Liu H, Lee Y, Huang Y, Chen Y, Liou J, et al. MPT0B169, a novel tubulin inhibitor, induces apoptosis in taxol-resistant acute myeloid leukemia cells through mitochondrial dysfunction and Mcl-1 downregulation. Tumour Biol. 2016;37:6065-72 pubmed publisher
    ..Western blot analysis showed that MPT0B169 markedly reduced Mcl-1 (an antiapoptotic protein) levels; however, it caused no changes in Bcl-2 or BAX (a proapoptotic protein)...
  32. Arakawa F, Kimura Y, Yoshida N, Miyoshi H, Doi A, Yasuda K, et al. Identification of miR-15b as a transformation-related factor in mantle cell lymphoma. Int J Oncol. 2016;48:485-92 pubmed publisher
    Mantle cell lymphoma (MCL) is an aggressive B cell lymphoma with a poor prognosis. It is characterized by the t(11;14)(q13;q32) translocation, resulting in over-expression of CCND1...
  33. Letai A. S63845, an MCL-1 Selective BH3 Mimetic: Another Arrow in Our Quiver. Cancer Cell. 2016;30:834-835 pubmed publisher
    A recent study reports a novel small molecule inhibitor of MCL-1 with efficacy in killing MCL-1-dependent cancer cells in vitro and in vivo...
  34. Kadir N, David R, Rossiter J, Gooderham N. The selective cytotoxicity of the alkenyl glucosinolate hydrolysis products and their presence in Brassica vegetables. Toxicology. 2015;334:59-71 pubmed publisher
    ..and 3-butenylisothiocyanate both inhibited cytochome P450 1A (CYP1A) enzyme activity in CYP expressing MCL-5 cells at high cytotoxic doses...
  35. Guo P, Xian J, Chen G, Liang X, Yang B, Wang Z, et al. [Features of clinical presentation, pathology and magnetic resonance or computed tomography imaging for ocular lymphoma]. Zhonghua Yi Xue Za Zhi. 2015;95:814-8 pubmed
    ..lymphoid tissue (MALT) lymphoma (n = 59), diffuse large B-cell lymphoma (DLBCL, n = 7), mantle cell lymphoma (MCL, n = 3), lymphoplasmacytic lymphoma (LPL, n = 2) and follicular lymphoma and natural killer/T-cell lymphoma (FL and ..
  36. Zheng W, Cao X, Wang F, Wang J, Ying T, Xiao W, et al. Baicalin inhibiting cerebral ischemia/hypoxia-induced neuronal apoptosis via MRTF-A-mediated transactivity. Eur J Pharmacol. 2015;767:201-10 pubmed publisher
    ..which was especially characterized by the enhancing of transcription and expression of myeloid cell leukemia-1 (MCL-1) and B-cell lymphoma-2 (BCL-2) in a dose-dependent manner...
  37. Spinner S, Crispatzu G, Yi J, Munkhbaatar E, Mayer P, Höckendorf U, et al. Re-activation of mitochondrial apoptosis inhibits T-cell lymphoma survival and treatment resistance. Leukemia. 2016;30:1520-30 pubmed publisher
    ..We identified the apoptotic regulator MCL-1 as the only pro-survival BCL-2 family member to be highly expressed throughout all human T-NHL subtypes...
  38. Edupuganti R, Taliaferro J, Wang Q, Xie X, Cho E, Vidhu F, et al. Discovery of a potent inhibitor of MELK that inhibits expression of the anti-apoptotic protein Mcl-1 and TNBC cell growth. Bioorg Med Chem. 2017;25:2609-2616 pubmed publisher
    ..The most potent compound, 17, inhibits the expression of the anti-apoptotic protein Mcl-1 and proliferation of TNBC cells exhibiting selectivity for cells expressing high levels of MELK...
  39. Farhadi E, Zaker F, Safa M, Rezvani M. miR-101 sensitizes K562 cell line to imatinib through Jak2 downregulation and inhibition of NF-?B target genes. Tumour Biol. 2016;37:14117-14128 pubmed
    ..Importantly, mRNA expression of NF-kappa B-regulated anti-apoptotic (Bcl-2, Bcl-xl, MCL-1, XIAP, and survivin) and proliferative (c-Myc and CCND1) genes was decreased...
  40. Lumley E, Osborn A, Scott J, Scholl A, Mercado V, McMahan Y, et al. Moderate endoplasmic reticulum stress activates a PERK and p38-dependent apoptosis. Cell Stress Chaperones. 2017;22:43-54 pubmed publisher
    ..During ER stress, cells exhibited a rapid decline in anti-apoptotic Mcl-1 and survivin proteins. Inhibition of PERK was sufficient to block this affect...
  41. Kang K, Koh Y, Son J, Kwon O, Baek C, Jung S, et al. Measuring the effect of femoral malrotation on knee joint biomechanics for total knee arthroplasty using computational simulation. Bone Joint Res. 2016;5:552-559 pubmed publisher
    ..The force on the medial collateral ligament (MCL) and the lateral collateral ligament (LCL) increased with internal and external femoral malrotations, respectively...
  42. Zhu R, Lu D, Chu Y, Chai A, Green M, Zhang N, et al. Assessment of Correlation Between Early and Late Efficacy Endpoints to Identify Potential Surrogacy Relationships in Non-Hodgkin Lymphoma: a Literature-Based Meta-analysis of 108 Phase II and Phase III Studies. AAPS J. 2017;19:669-681 pubmed publisher
    ..lymphoma (NHL) subtypes: diffuse large B-cell lymphoma (DLBCL), follicular lymphoma (FL), and mantle cell lymphoma (MCL)...
  43. Zheng M, Xu H, Liao X, Chen C, Zhang A, Lu W, et al. Inhibition of the prolyl isomerase Pin1 enhances the ability of sorafenib to induce cell death and inhibit tumor growth in hepatocellular carcinoma. Oncotarget. 2017;8:29771-29784 pubmed publisher
    ..was further supported by the findings that Pin1 knockdown led to stabilization of Fbxw7 and destabilization of Mcl-1...
  44. Anasir M, Caria S, Skinner M, Kvansakul M. Structural basis of apoptosis inhibition by the fowlpox virus protein FPV039. J Biol Chem. 2017;292:9010-9021 pubmed publisher
    ..in cellular prosurvival Bcl-2 proteins and closely mimics the structure of the prosurvival Bcl-2 family protein Mcl-1...
  45. Almahayni T, Vanhoudt N. Does leaching of naturally occurring radionuclides from roadway pavements stabilised with coal fly ash have negative impacts on groundwater quality and human health?. J Hazard Mater. 2018;349:128-134 pubmed publisher
    ..our particular case study, U concentration in the leachate exceeded the maximum contaminant level for this element (MCL = 30 μg L-1) in almost all the scenarios...
  46. Lanning M, Wilder P, Bailey H, Drennen B, Cavalier M, Chen L, et al. Towards more drug-like proteomimetics: two-faced, synthetic α-helix mimetics based on a purine scaffold. Org Biomol Chem. 2015;13:8642-6 pubmed publisher
    ..Herein, we demonstrate that a 2,6,9-tri-substituted purine is capable of disrupting the Mcl-1-Bak-BH3 PPI through effective mimicry of key residues on opposing faces of the Bak-BH3 α-helix.
  47. Wang X, Zhang C, Yan X, Lan B, Wang J, Wei C, et al. A Novel Bioavailable BH3 Mimetic Efficiently Inhibits Colon Cancer via Cascade Effects of Mitochondria. Clin Cancer Res. 2016;22:1445-58 pubmed publisher
    ..ch282-5 could potentiate the effectiveness of oxaliplatin and rescue ABT-263 efficacy by downregulation of Mcl-1 and elevation of platelet number...
  48. Branch T, Stinton S, Siebold R, Freedberg H, Jacobs C, Hutton W. Assessment of knee laxity using a robotic testing device: a comparison to the manual clinical knee examination. Knee Surg Sports Traumatol Arthrosc. 2017;25:2460-2467 pubmed publisher
    ..Two human cadavers were studied. A medial collateral ligament (MCL) tear was simulated in the left knee of cadaver 1, and a posterolateral corner (PLC) injury was simulated in the ..
  49. Tsutiya A, Watanabe H, Nakano Y, Nishihara M, Goshima Y, Ohtani Kaneko R. Deletion of collapsin response mediator protein 4 results in abnormal layer thickness and elongation of mitral cell apical dendrites in the neonatal olfactory bulb. J Anat. 2016;228:792-804 pubmed publisher
    ..The mitral cell layer (MCL) was significantly thinner, whereas the external plexiform layer (EPL) was significantly thicker in CRMP4-KO mice ..
  50. Dik E, Naamati A, Asraf H, Lehming N, Pines O. Human Fumarate Hydratase Is Dual Localized by an Alternative Transcription Initiation Mechanism. Traffic. 2016;17:720-32 pubmed publisher
    Fumarate hydratase (FH, fumarase), is a tricarboxylic acid cycle enzyme localized in the mitochondrial matrix. However, a common theme, conserved from yeast to human, is the existence of a large cytosolic population of FH...
  51. Thamilselvan V, Menon M, Thamilselvan S. Combination of carmustine and selenite effectively inhibits tumor growth by targeting androgen receptor, androgen receptor-variants, and Akt in preclinical models: New hope for patients with castration resistant prostate cancer. Int J Cancer. 2016;139:1632-47 pubmed publisher
    ..oxygen species, apoptosis and growth inhibition in CRPC cells with down regulation of anti-apoptotic (Bcl-2 and Mcl-1) and proliferative proteins (c-Myc and cyclin-D1)...
  52. Kholinne E, Lee H, Kim G, Deslivia M, Adikrishna A, Bin Z, et al. Mechanoreceptors distribution in the human medial collateral ligament of the elbow. Orthop Traumatol Surg Res. 2018;104:251-255 pubmed publisher
    ..The three typical types of mechanoreceptors were identified in human MCL with the anterior part and bony attachment as the dominant distribution site. Basic Science Study.
  53. Su L, Shi Y, Yan M, Xi Y, Su X. Anticancer bioactive peptides suppress human colorectal tumor cell growth and induce apoptosis via modulating the PARP-p53-Mcl-1 signaling pathway. Acta Pharmacol Sin. 2015;36:1514-9 pubmed publisher
    ..enhanced UV-induced apoptosis, increased the expression of PARP and p53, and decreased the expression of Mcl-1...
  54. Li Y, Pan Y, Wu W, Mao S, Sun J, Zhao Y, et al. Evodiamine induces apoptosis and enhances apoptotic effects of erlotinib in wild-type EGFR NSCLC cells via S6K1-mediated Mcl-1 inhibition. Med Oncol. 2016;33:16 pubmed publisher
    ..investigation of the mechanism underlying these effects revealed that evodiamine plus erlotinib might downregulate Mcl-1 expression through the mTOR/S6K1 control of its translation...
  55. Booth L, Roberts J, Tavallai M, Chuckalovcak J, Stringer D, Koromilas A, et al. [Pemetrexed + Sorafenib] lethality is increased by inhibition of ERBB1/2/3-PI3K-NFκB compensatory survival signaling. Oncotarget. 2016;7:23608-32 pubmed publisher
    ..chaperone ATPase activities and reduced the interactions of chaperones with clients including c-MYC, CDC37 and MCL-1...
  56. Bates N, McPherson A, Nesbitt R, Shearn J, Myer G, Hewett T. Robotic simulation of identical athletic-task kinematics on cadaveric limbs exhibits a lack of differences in knee mechanics between contralateral pairs. J Biomech. 2017;53:36-44 pubmed publisher
    ..ACL and MCL force, torque, and strains were recorded and analyzed for differences between contralateral pairs...
  57. Klann J, Remedios K, Kim S, Metz P, Lopez J, Mack L, et al. Talin Plays a Critical Role in the Maintenance of the Regulatory T Cell Pool. J Immunol. 2017;198:4639-4651 pubmed publisher
    ..signaling and ultimately leading to increased apoptosis through downregulation of prosurvival proteins Bcl-2 and Mcl-1...
  58. Thongkum A, Wu C, Li Y, Wangpaichitr M, Navasumrit P, Parnlob V, et al. The Combination of Arginine Deprivation and 5-Fluorouracil Improves Therapeutic Efficacy in Argininosuccinate Synthetase Negative Hepatocellular Carcinoma. Int J Mol Sci. 2017;18: pubmed publisher
    ..proteins X-linked inhibitor of apoptosis protein (XIAP), myeloid leukemia cell differentiation protein (Mcl-1) and B-cell lymphoma-2 (Bcl-2)...
  59. Yang J, Ikezoe T, Nishioka C, Yokoyama A. Over-expression of Mcl-1 impairs the ability of ATRA to induce growth arrest and differentiation in acute promyelocytic leukemia cells. Apoptosis. 2013;18:1403-1415 pubmed publisher
    Exposure of acute promyelocytic leukemia (APL) cells to all-trans retinoic acid (ATRA) increases levels of Mcl-1, however, the implication of ATRA-mediated expressions of Mcl-1 in these cells remains to be fully elucidated...
  60. Bhatt S, Matthews J, Parvin S, Sarosiek K, Zhao D, Jiang X, et al. Direct and immune-mediated cytotoxicity of interleukin-21 contributes to antitumor effects in mantle cell lymphoma. Blood. 2015;126:1555-64 pubmed publisher
    Mantle cell lymphoma (MCL) is a distinct subtype of non-Hodgkin lymphoma characterized by overexpression of cyclin D1 in 95% of patients...
  61. YanardaÄŸ Açık D, Yılmaz M, Sarı Ä, Öztuzcu S, Sayıner Z, Subari S, et al. Investigation of Rho-Kinase Expressions and Polymorphisms in Mantle Cell Lymphoma Patients. Turk J Haematol. 2016;33:141-7 pubmed publisher
    Mantle cell lymphoma (MCL) is a rare but aggressive form of B-cell non-Hodgkin lymphoma characterized by excessive expression of cyclin D1...
  62. Yu Q, Liu Z, Chen Q, Lin J. Mcl-1 as a potential therapeutic target for human hepatocelluar carcinoma. J Huazhong Univ Sci Technolog Med Sci. 2016;36:494-500 pubmed publisher
    ..The anti-apoptotic Mcl-1 expression has been reported as a resistance factor in various types of tumors...
  63. Gunda V, Sarosiek K, Brauner E, Kim Y, Amin S, Zhou Z, et al. Inhibition of MAPKinase pathway sensitizes thyroid cancer cells to ABT-737 induced apoptosis. Cancer Lett. 2017;395:1-10 pubmed publisher
    ..fresh primary papillary thyroid cancer (PTC) tumors showed dependence for survival on Bcl-xL (2/7), Bcl2 (2/7), and Mcl-1 (2/7), while the majority of thyroid cell lines were mainly dependent on Bcl-xL...
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    ..PDGFR inhibition decreased cellular abundance of the survival protein Mcl-1, a known YAP target gene, and accordingly increased cell death in CCA cells in vitro and in vivo...
  65. Manso Cobos I, Ibáñez García M, de la Peña Moreno F, Sáez Melero L, Luque Almagro V, Castillo Rodríguez F, et al. Pseudomonas pseudoalcaligenes CECT5344, a cyanide-degrading bacterium with by-product (polyhydroxyalkanoates) formation capacity. Microb Cell Fact. 2015;14:77 pubmed publisher
    ..the existence of genes putatively involved in metabolism of short chain length (scl-) and medium chain length (mcl-) polyhydroxyalkanoates (PHAs) located in three different clusters in the genome of this bacterium...
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    In the last year, we have performed a new technique for combined medial collateral ligament (MCL) and posterior oblique ligament (POL) reconstruction in chronic setting of anterior cruciate ligament and MCL complex deficiency...
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    ..We show that the activation of Syk provides an antiapoptotic signal, which is independent of Mcl-1, Bcl-2, and Bcl-XL, but related to the degradation of the proapoptotic Bim...
  68. van Attekum M, Terpstra S, Slinger E, von Lindern M, Moerland P, Jongejan A, et al. Macrophages confer survival signals via CCR1-dependent translational MCL-1 induction in chronic lymphocytic leukemia. Oncogene. 2017;36:3651-3660 pubmed publisher
    ..large (BCL-XL), BCL-2-related protein A1 (BFL-1) and myeloid leukemia cell differentiation protein 1 (MCL-1) are upregulated by LN-residing T cells through CD40L interaction, presumably via nuclear factor (NF)-κB ..
  69. Chen P, Jin Q, Jiang X, You P, Yuan Q, Huang H. [Expression of MCL-1 in Primary Acute Myeloid Leukemia Cells and Its Clinical Significance]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2017;25:50-54 pubmed publisher
    To detect the expression of MCL-1 in patient with acute myeloid leukemia(AML) with normal karyotype and to investigate the relationship of its expression level with clinical parameters and prognosis...
  70. Lian B, Yek A, Shuvas H, Abdul Rahman S, Muniandy K, Mohana Kumaran N. Synergistic anti-proliferative effects of combination of ABT-263 and MCL-1 selective inhibitor A-1210477 on cervical cancer cell lines. BMC Res Notes. 2018;11:197 pubmed publisher
    There are number of studies which report that BCL-2 anti-apoptotic proteins (e.g. BCL-2, BCL-XL, and MCL-1) are highly expressed in cervical cancer tissues compared to the normal cervical epithelia...
  71. He K, Chen D, Ruan H, Li X, Tong J, Xu X, et al. BRAFV600E-dependent Mcl-1 stabilization leads to everolimus resistance in colon cancer cells. Oncotarget. 2016;7:47699-47710 pubmed publisher
    ..disrupts the S6K1-IRS-2/PI3K negative feedback loop, leading to BRAF V600E-dependent activation of ERK and Mcl-1 stabilization in colon cancer cells, which in turn blocks the crosstalk from the death receptor to mitochondria...
  72. Tiper I, Webb T. Histone deacetylase inhibitors enhance CD1d-dependent NKT cell responses to lymphoma. Cancer Immunol Immunother. 2016;65:1411-1421 pubmed
    ..tumor cells with HDAC inhibitors (HDACi) and assessed CD1d-dependent NKT cell responses to mantle cell lymphoma (MCL)...
  73. Galimberti S, Nagy B, Benedetti E, Pacini S, Brizzi S, Caracciolo F, et al. Evaluation of the MDR1, ABCG2, Topoisomerases IIalpha and GSTpi gene expression in patients affected by aggressive mantle cell lymphoma treated by the R-Hyper-CVAD regimen. Leuk Lymphoma. 2007;48:1502-9 pubmed
    The genomic profile of mantle cell lymphoma (MCL) has been reported to be significantly different from that of other indolent lymphoproliferative disorders, Topoisomerase IIalpha, glutathione-s-transferasepi (GSTpi) and ABCG2 (BCRP) ..
  74. Kubinova K, Tesarova M, Hansikova H, Vesela K, Kuzel D, Mara M. Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. J Obstet Gynaecol Res. 2013;39:410-4 pubmed publisher
    ..dominant syndromes multiple cutaneous and uterine leiomyomata and hereditary leiomyomatosis and renal cell cancer (HLRCC)...
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    ..This differential effect, which is explained by compensatory Mcl-1 function, provides opportunities for patient stratification and combination treatments in the context of cancer ..
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    ..Further, selective inhibition of BCL-2, aided by TKI-mediated MCL-1 and BCL-XL inhibition, markedly decreased leukemic Lin(-)Sca-1(+)cKit(+) cell numbers and long-term stem cell ..
  77. Patsenker E, Chicca A, Petrucci V, Moghadamrad S, De Gottardi A, Hampe J, et al. 4-O'-methylhonokiol protects from alcohol/carbon tetrachloride-induced liver injury in mice. J Mol Med (Berl). 2017;95:1077-1089 pubmed publisher
    ..Necrotic lesions and hepatic inflammation were moderately improved, while IL-10 mRNA increased and IFNγ, Mcl-1, JNK1, and RIPK1 normalized by MHK...
  78. Xia H, Cui H, Su L, Zhang Z, Yang X, Ning S, et al. Clinical significance and expression of PUMA, MCL-1, and p53 in human renal cell carcinoma and para-carcinoma tissues. Genet Mol Res. 2017;16: pubmed publisher
    We investigated the expression level of p53 upregulated modulator of apoptosis (PUMA), myeloid cell leukemia-I (MCL-1), and p53 in renal cell carcinoma (RCC) and para-carcinoma tissues, as well as their clinical significance...
  79. Gao X, Yu G, Gong H, Liu L, Xu Y, Hao L, et al. Differences of protein expression profiles, KRAS and BRAF mutation, and prognosis in right-sided colon, left-sided colon and rectal cancer. Sci Rep. 2017;7:7882 pubmed publisher
    ..Progression Free Survival (PFS) of RSCC was significantly lower than that of LRCC and rectal cancer...
  80. Kraus D, Palasuberniam P, Chen B. Targeting Phosphatidylinositol 3-Kinase Signaling Pathway for Therapeutic Enhancement of Vascular-Targeted Photodynamic Therapy. Mol Cancer Ther. 2017;16:2422-2431 pubmed publisher
    ..Combination treatments of PDT and BEZ235 exhibited a cooperative inhibition of antiapoptotic Bcl-2 family protein Mcl-1 and induced more cell apoptosis than each treatment alone...
  81. Sui X, Zhang C, Zhou J, Cao S, Xu C, Tang F, et al. Resveratrol inhibits Extranodal NK/T cell lymphoma through activation of DNA damage response pathway. J Exp Clin Cancer Res. 2017;36:133 pubmed publisher
    ..It induced NKTCL cells apoptosis through mitochondrial pathway, shown as down-regulation of MCl-1 and survivin, up-regulation of Bax and Bad, and activation of caspase-9 and caspase-3...
  82. Izutsu K. Treatment for mantle cell lymphoma. Rinsho Ketsueki. 2017;58:2026-2032 pubmed publisher
    Mantle cell lymphoma (MCL) is an aggressive B-cell lymphoma characterized by CD5+, CCND1+, and the CCND1-IGH translocation...
  83. Antwi Peprah B, Ramsay J, Ramsay B. Stabilization and characterization of carboxylated medium-chain-length poly(3-hydroxyalkanoate) nanosuspensions. Int J Biol Macromol. 2018;108:902-908 pubmed publisher
    ..via mercaptoundecanoic acid) on colloidal properties of medium-chain-length poly(3-hydroxyalkanoate) (mcl-PHA) latexes were studied. Non-ionic surfactants tested at 0...
  84. Geitner F, Fässler T. Low oxidation state silicon clusters - synthesis and structure of [NHCDippCu(?4-Si9)]3. Chem Commun (Camb). 2017;: pubmed publisher
    ..is possible, whereas the reactions of K12Si17 with the corresponding NHCDippMCl (M: Ag, Au) complexes result in a partial oxidation of the silicide clusters, without attachment of [M-NHC]+
  85. Rashidi M, Bandala Sanchez E, Lawlor K, Zhang Y, Neale A, Vijayaraj S, et al. CD52 inhibits Toll-like receptor activation of NF-?B and triggers apoptosis to suppress inflammation. Cell Death Differ. 2017;: pubmed publisher
    ..At higher concentrations, soluble CD52 depletes the short-lived pro-survival protein MCL-1, contributing to activation of the BH3-only proteins BAX and BAK to cause intrinsic apoptotic cell death...
  86. Xiao M, Yang H, Xu W, Ma S, Lin H, Zhu H, et al. Inhibition of ?-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. Genes Dev. 2012;26:1326-38 pubmed publisher
    Two Krebs cycle genes, fumarate hydratase (FH) and succinate dehydrogenase (SDH), are mutated in a subset of human cancers, leading to accumulation of their substrates, fumarate and succinate, respectively...
  87. Wan Y, Liu T, Li X, Chen C, Fang H. Improved binding affinities of pyrrolidine derivatives as Mcl-1 inhibitors by modifying amino acid side chains. Bioorg Med Chem. 2017;25:138-152 pubmed publisher
    As an important member of anti-apoptotic Bcl-2 protein, myeloid cell leukemia sequence 1 (Mcl-1) protein is an attractive target for cancer therapy...
  88. Cohen J, Zain J, Kahl B. Current Approaches to Mantle Cell Lymphoma: Diagnosis, Prognosis, and Therapies. Am Soc Clin Oncol Educ Book. 2017;37:512-525 pubmed publisher
    Mantle cell lymphoma (MCL) is a unique lymphoma subtype, both biologically and clinically. Virtually all cases are characterized by a common genetic lesion, t(11;14), resulting in overexpression of cyclin D1...
  89. Wang X, Liu H, Cao P, Liu C, Dong Z, Qi J, et al. Clinical outcomes of medial collateral ligament injury in total knee arthroplasty. Medicine (Baltimore). 2017;96:e7617 pubmed publisher
    Intraoperative injury to the medial collateral ligament (MCL) during total knee arthroplasty (TKA) is a rare but severe complication...
  90. Zervantonakis I, Iavarone C, Chen H, Selfors L, Palakurthi S, Liu J, et al. Systems analysis of apoptotic priming in ovarian cancer identifies vulnerabilities and predictors of drug response. Nat Commun. 2017;8:365 pubmed publisher
    ..apoptotic regulators that are predictive of drug sensitivity (BIM, caspase-3, BCL-XL) and resistance (MCL-1, XIAP)...
  91. Ma L, Zhu Y, Fang S, Long H, Liu X, Liu Z. Arenobufagin Induces Apoptotic Cell Death in Human Non-Small-Cell Lung Cancer Cells via the Noxa-Related Pathway. Molecules. 2017;22: pubmed publisher
    ..rapidly upregulated the expression of the pro-apoptosis protein Noxa, and abrogated the anti-apoptosis protein Mcl-1, a major binding partner of Noxa in the cell...
  92. Cui Z, Jin Y, Sun L, Zakki S, Li M, Feng Q, et al. Potential hazards of fenvalerate in massive pollution influence the apoptosis sensitivity. J Appl Toxicol. 2018;38:240-247 pubmed publisher
    ..of pro-apoptotic Bcl-2 family proteins (Noxa and Bid) and increased expression of anti-apoptotic proteins (Bcl-xL, Mcl-1 and XIAP) were observed after combined treatment with Fen and CdCl2 ...