| Uterine Leiomyomas with Specific Histology Features of Two Fumarate Hydratase/Succinate Dehydrogenase-Deficient Tumors: A Double Case Report. | Uterine Leiomyomas with Specific Histology Features of Two Fumarate Hydratase/Succinate Dehydrogenase-Deficient Tumors: A Double Case Report.
Jovanović L, Milenković S, Andrić L, Stefanović R, Milošević B, Micić J, Pilić I, Beleslin A, Mihaljević O, Dokić M., Free PMC Article | 08/15/2024 |
| Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations. | Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations.
Shi W, Liu Y, Aisagbonhi O, Roma AA, Hasteh F, Zare SY, Fadare O. | 03/20/2024 |
| Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array-CGH interpretation. | Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array-CGH interpretation.
Fontanges Q, Dubos P, Lesluyes T, Laizet Y, Velasco V, Meléndez B, D'Haene N, Oliva E, Young RH, Mayeur L, Rebier F, Alamé M, Larmonier C, Devouassoux-Shisheboran M, Arnould L, Soubeyran I, Chakiba C, Floquet A, Babin G, Guyon F, Mery E, Le Guellec S, Noël JC, Croce S, Chibon F. | 03/15/2024 |
| Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer. | Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Crooks DR, Cawthon GM, Fitzsimmons CM, Perez M, Ricketts CJ, Vocke CD, Yang Y, Middelton L, Nielsen D, Schmidt LS, Tandon M, Merino MJ, Ball MW, Meier JL, Batista PJ, Linehan WM., Free PMC Article | 11/14/2023 |
| In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma. | In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma.
Chami A, de Souza Zózimo TR, Alves TM, Matosinho CGR, Santos C, Simões MM, Cabral WLR, de Paula Ricardo BF, da Silva Filho AL, Carvalho MRS, da Conceição Braga L. | 11/10/2023 |
| FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer. | FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Wilde BR, Chakraborty N, Matulionis N, Hernandez S, Ueno D, Gee ME, Esplin ED, Ouyang K, Nykamp K, Shuch B, Christofk HR., Free PMC Article | 09/8/2023 |
| Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma. | Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.
Zavoshi S, Lu E, Boutros PC, Zhang L, Harari A, Hatchell KE, Nielsen SM, Esplin ED, Ouyang K, Nykamp K, Wilde B, Christofk H, Shuch B. | 06/29/2023 |
| 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. | 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.
Shi Y, Xu Y, Wang C, Chen Y, Ren X, Kang Y, Wang C., Free PMC Article | 03/30/2023 |
| Macrophage fumarate hydratase restrains mtRNA-mediated interferon production. | Macrophage fumarate hydratase restrains mtRNA-mediated interferon production.
Hooftman A, Peace CG, Ryan DG, Day EA, Yang M, McGettrick AF, Yin M, Montano EN, Huo L, Toller-Kawahisa JE, Zecchini V, Ryan TAJ, Bolado-Carrancio A, Casey AM, Prag HA, Costa ASH, De Los Santos G, Ishimori M, Wallace DJ, Venuturupalli S, Nikitopoulou E, Frizzell N, Johansson C, Von Kriegsheim A, Murphy MP, Jefferies C, Frezza C, O'Neill LAJ., Free PMC Article | 03/24/2023 |
| Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors. | Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors.
McMurtry V, Mahlow J, Coleman JF, Deftereos G, Jattani R, Bastien RRL, Durtschi J, Jarboe E, Lomo L, Sirohi D. | 02/11/2023 |
| Genomic and Metabolic Hallmarks of SDH- and FH-deficient Renal Cell Carcinomas. | Genomic and Metabolic Hallmarks of SDH- and FH-deficient Renal Cell Carcinomas.
Yoo A, Tang C, Zucker M, Fitzgerald K, DiNatale RG, Rappold PM, Weiss K, Freeman B, Lee CH, Schultz N, Motzer R, Russo P, Coleman J, Reuter VE, Chen YB, Carlo MI, Gill AJ, Kotecha RR, Ari Hakimi A, Reznik E., Free PMC Article | 12/10/2022 |
| Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma. | Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma.
Ma X, Cui Y, Gao Y, Zhang X, Nie M, Tong A. | 10/22/2022 |
| A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression. | A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression.
Anderson WJ, Tsai HK, Sholl LM, Hirsch MS. | 08/6/2022 |
| Different Fumarate Hydratase Gene Variants Are Associated With Distinct Cancer Phenotypes. | Different Fumarate Hydratase Gene Variants Are Associated With Distinct Cancer Phenotypes.
Kamihara J, Horton C, Tian Y, Zhou J, Richardson M, LaDuca H, Rana HQ. | 03/26/2022 |
| Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing. | Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.
Lu E, Hatchell KE, Nielsen SM, Esplin ED, Ouyang K, Nykamp K, Zavoshi S, Li S, Zhang L, Wilde BR, Christofk HR, Boutros PC, Shuch B., Free PMC Article | 03/12/2022 |
| Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas. | Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas.
Li P, Wu Y, Wu H, Xiong Q, Zhao N, Chen G, Wu C, Xiao H., Free PMC Article | 03/12/2022 |
| Uterine leiomyoma with fumarate hydratase deficiency: A case report. | Uterine leiomyoma with fumarate hydratase deficiency: A case report.
Huang Y, Zhou Y, Chen X, Fang Q, Cai H, Xie M, Xing Y., Free PMC Article | 02/12/2022 |
| Integrated Molecular Characterization of Fumarate Hydratase-deficient Renal Cell Carcinoma. | Integrated Molecular Characterization of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Sun G, Zhang X, Liang J, Pan X, Zhu S, Liu Z, Armstrong CM, Chen J, Lin W, Liao B, Lin T, Huang R, Zhang M, Zheng L, Yin X, Nie L, Shen P, Zhao J, Zhang H, Dai J, Shen Y, Li Z, Liu J, Chen J, Liu J, Wang Z, Zhu X, Ni Y, Qin D, Yang L, Chen Y, Wei Q, Li X, Zhou Q, Huang H, Yao J, Chen N, Zeng H. | 02/12/2022 |
| Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer. | Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.
Crooks DR, Maio N, Lang M, Ricketts CJ, Vocke CD, Gurram S, Turan S, Kim YY, Cawthon GM, Sohelian F, De Val N, Pfeiffer RM, Jailwala P, Tandon M, Tran B, Fan TW, Lane AN, Ried T, Wangsa D, Malayeri AA, Merino MJ, Yang Y, Meier JL, Ball MW, Rouault TA, Srinivasan R, Linehan WM., Free PMC Article | 11/6/2021 |
| Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling. | Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling.
Ueki A, Sugano K, Misu K, Aimono E, Nakamura K, Tanishima S, Tanaka N, Mikami S, Hirasawa A, Ando M, Yoshida T, Oya M, Nishihara H, Kosaki K., Free PMC Article | 09/11/2021 |
| Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants. | Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Popp B, Erber R, Kraus C, Vasileiou G, Hoyer J, Burghaus S, Hartmann A, Beckmann MW, Reis A, Agaimy A., Free PMC Article | 08/28/2021 |
| Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. | Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
Shuch B, Li S, Risch H, Bindra RS, McGillivray PD, Gerstein M., Free PMC Article | 05/22/2021 |
| Complexities in estimating the true risk of hereditary leiomyomatosis and renal cell carcinoma and the development of kidney cancer. | Complexities in estimating the true risk of hereditary leiomyomatosis and renal cell carcinoma and the development of kidney cancer.
Ball MW, Ricketts CJ., Free PMC Article | 05/22/2021 |
| Multiple Bioinformatics Analyses of Integrated Gene Expression Profiling Data and Verification of Hub Genes Associated with Diabetic Retinopathy. | Multiple Bioinformatics Analyses of Integrated Gene Expression Profiling Data and Verification of Hub Genes Associated with Diabetic Retinopathy.
You J, Qi S, Du Y, Wang C, Su G., Free PMC Article | 05/22/2021 |
| Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. | Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Zhang L, Walsh MF, Jairam S, Mandelker D, Zhong Y, Kemel Y, Chen YB, Musheyev D, Zehir A, Jayakumaran G, Brzostowski E, Birsoy O, Yang C, Li Y, Somar J, DeLair D, Pradhan N, Berger MF, Cadoo K, Carlo MI, Robson ME, Stadler ZK, Iacobuzio-Donahue CA, Joseph V, Offit K., Free PMC Article | 05/22/2021 |