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Select item 106302461.

Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer

Daniel R Crooks, Geetha Mariah Cawthon, Christina M Fitzsimmons, Minervo Perez, Christopher J Ricketts, Cathy D Vocke, Ye Yang, Lindsay Middelton, Debbie Nielsen, Laura S Schmidt, Mayank Tandon, Maria J Merino, Mark W Ball, Jordan L Meier, Pedro J Batista, William Marston Linehan

Hum Mol Genet. 2023 Nov 15; 32(22): 3135–3145. Published online 2023 Aug 10. doi: 10.1093/hmg/ddad131

PMCID:: PMC10630246

Abstract Article PDF–1.5M

Select item 105276002.

FH variant pathogenicity promotes purine salvage pathway dependence in kidney cancer

Blake R. Wilde, Nishma Chakraborty, Nedas Matulionis, Stephanie Hernandez, Daiki Ueno, Michayla E. Gee, Edward D. Esplin, Karen Ouyang, Keith Nykamp, Brian Shuch, Heather R. Christofk

Cancer Discov. Author manuscript; available in PMC 2024 Mar 6.

Published in final edited form as: Cancer Discov. 2023 Sep 6; 13(9): 2072–2089. doi: 10.1158/2159-8290.CD-22-0874

PMCID:: PMC10527600

Abstract Article PDF–2.4M

Select item 104113003.

Macrophage fumarate hydratase restrains mtRNA-mediated interferon production

Alexander Hooftman, Christian G. Peace, Dylan G. Ryan, Emily A. Day, Ming Yang, Anne F. McGettrick, Maureen Yin, Erica N. Montano, Lihong Huo, Juliana E. Toller-Kawahisa, Vincent Zecchini, Tristram A. J. Ryan, Alfonso Bolado-Carrancio, Alva M. Casey, Hiran A. Prag, Ana S. H. Costa, Gabriela De Los Santos, Mariko Ishimori, Daniel J. Wallace, Swamy Venuturupalli, Efterpi Nikitopoulou, Norma Frizzell, Cecilia Johansson, Alexander Von Kriegsheim, Michael P. Murphy, Caroline Jefferies, Christian Frezza, Luke A. J. O’Neill

Nature. Author manuscript; available in PMC 2023 Aug 9.

Published in final edited form as: Nature. 2023 Mar; 615(7952): 490–498. Published online 2023 Mar 8. doi: 10.1038/s41586-019-0000-0

PMCID:: PMC10411300

Abstract Article PDF–5.8M

Select item 103166754.

Estimation of the Carrier Frequency of Fumarate Hydratase Alterations and Implications for Kidney Cancer Risk in Hereditary Leiomyomatosis and Renal Cancer

Brian Shuch, Shantao Li, Harvey Risch, Ranjit S. Bindra, Patrick D. McGillivray, Mark Gerstein

Cancer. Author manuscript; available in PMC 2023 Jul 3.

Published in final edited form as: Cancer. 2020 Aug 15; 126(16): 3657–3666. Published online 2020 May 15. doi: 10.1002/cncr.32914

PMCID:: PMC10316675

Abstract Article PDF–759K

Select item 100482035.

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

Yue Shi, Yan Xu, Chao Wang, Yiqing Chen, Xiaojun Ren, Yu Kang, Chao Wang

Genes (Basel) 2023 Mar; 14(3): 744. Published online 2023 Mar 18. doi: 10.3390/genes14030744

PMCID:: PMC10048203

Abstract Article PDF–5.1M

Select item 94642666.

Genomic and Metabolic Hallmarks of SDH- and FH-deficient Renal Cell Carcinomas

Angela Yoo, Cerise Tang, Mark Zucker, Kelly Fitzgerald, Renzo G. DiNatale, Phillip M. Rappold, Kate Weiss, Benjamin Freeman, Chung-Han Lee, Nikolaus Schultz, Robert Motzer, Paul Russo, Jonathan Coleman, Victor E. Reuter, Ying-Bei Chen, Maria I. Carlo, Anthony J. Gill, Ritesh R. Kotecha, A. Ari Hakimi, Ed Reznik

Eur Urol Focus. Author manuscript; available in PMC 2022 Dec 6.

Published in final edited form as: Eur Urol Focus. 2022 Sep; 8(5): 1278–1288. Published online 2022 Mar 11. doi: 10.1016/j.euf.2021.12.002

PMCID:: PMC9464266

Abstract Article PDF–1.4M

Select item 91702687.

Fumarate Hydratase Variant Prevalence and Manifestations Among Individuals Receiving Germline Testing

Eric Lu, Kathryn E. Hatchell, Sarah M. Nielsen, Edward D. Esplin, Karen Ouyang, Keith Nykamp, Shirin Zavoshi, Shantao Li, Liying Zhang, Blake R. Wilde, Heather R. Christofk, Paul C. Boutros, Brian Shuch

Cancer. Author manuscript; available in PMC 2022 Jun 6.

Published in final edited form as: Cancer. 2022 Feb 15; 128(4): 675–684. Published online 2021 Nov 1. doi: 10.1002/cncr.33997

PMCID:: PMC9170268

Abstract Article PDF–702K

Select item 91168818.

Clues to Recognition of Fumarate Hydratase-Deficient Renal Cell Carcinoma: Findings From Cytologic and Limited Biopsy Samples

Irene Shyu, Leili Mirsadraei, Xiaoyan Wang, Valentina Robila, Rohit Mehra, Jonathan B. McHugh, Ying-Bei Chen, Aaron M. Udager, Anthony J. Gill, Liang Cheng, Mahul B. Amin, Oscar Lin, Steven Christopher Smith

Cancer Cytopathol. Author manuscript; available in PMC 2022 May 18.

Published in final edited form as: Cancer Cytopathol. 2018 Dec; 126(12): 992–1002. Published online 2018 Oct 19. doi: 10.1002/cncy.22071

PMCID:: PMC9116881

Abstract Article PDF–2.9M

Select item 88361529.

Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas

Ping Li, Yanru Wu, Huizhi Wu, Qiuhong Xiong, Na Zhao, Guangxin Chen, Changxin Wu, Han Xiao

Int J Mol Sci. 2022 Feb; 23(3): 1452. Published online 2022 Jan 27. doi: 10.3390/ijms23031452

PMCID:: PMC8836152

Abstract Article PDF–23M

Select item 866390910.

Uterine leiomyoma with fumarate hydratase deficiency: A case report

Yan Huang, Yan Zhou, Xing Chen, Qin Fang, Huiran Cai, Manxin Xie, Yan Xing

Medicine (Baltimore) 2021 Dec 10; 100(49): e28142. Published online 2021 Dec 10. doi: 10.1097/MD.0000000000028142

PMCID:: PMC8663909

Abstract Article PDF–824K

Select item 855735211.

Complexities in Estimating the True Risk of Hereditary Leiomyomatosis and Renal Cell Carcinoma and the Development of Kidney Cancer

Mark W. Ball, Christopher J. Rickets

Cancer. Author manuscript; available in PMC 2021 Oct 31.

Published in final edited form as: Cancer. 2020 Aug 15; 126(16): 3617–3619. Published online 2020 May 15. doi: 10.1002/cncr.32915

PMCID:: PMC8557352

Article PDF–39K

Select item 834743812.

Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling

Arisa Ueki, Kokichi Sugano, Kumiko Misu, Eriko Aimono, Kohei Nakamura, Shigeki Tanishima, Nobuyuki Tanaka, Shuji Mikami, Akira Hirasawa, Miho Ando, Teruhiko Yoshida, Mototsugu Oya, Hiroshi Nishihara, Kenjiro Kosaki

Int J Mol Sci. 2021 Aug; 22(15): 7962. Published online 2021 Jul 26. doi: 10.3390/ijms22157962

PMCID:: PMC8347438

Abstract Article PDF–3.0M

Select item 803918713.

Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer

Daniel R. Crooks, Nunziata Maio, Martin Lang, Christopher J. Ricketts, Cathy D. Vocke, Sandeep Gurram, Sevilay Turan, Yun-Young Kim, G. Mariah Cawthon, Ferri Sohelian, Natalia De Val, Ruth M. Pfeiffer, Parthav Jailwala, Mayank Tandon, Bao Tran, Teresa W.-M. Fan, Andrew N. Lane, Thomas Ried, Darawalee Wangsa, Ashkan A. Malayeri, Maria J. Merino, Youfeng Yang, Jordan L. Meier, Mark W. Ball, Tracey A. Rouault, Ramaprasad Srinivasan, W. Marston Linehan

Sci Signal. Author manuscript; available in PMC 2021 Jul 5.

Published in final edited form as: Sci Signal. 2021 Jan 5; 14(664): eabc4436. Published online 2021 Jan 5. doi: 10.1126/scisignal.abc4436

PMCID:: PMC8039187

Abstract Article PDF–3.0M

Select item 758150914.

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants

Bernt Popp, Ramona Erber, Cornelia Kraus, Georgia Vasileiou, Juliane Hoyer, Stefanie Burghaus, Arndt Hartmann, Matthias W. Beckmann, André Reis, Abbas Agaimy

Mod Pathol. 2020; 33(11): 2341–2353. Published online 2020 Jul 1. doi: 10.1038/s41379-020-0596-y

PMCID:: PMC7581509

Abstract Article PDF–2.3M

Select item 743472815.

Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome

Kelsey E. Breen, Maria I. Carlo, Yelena Kemel, Anna Maio, Ying‐Bei Chen, Liying Zhang, Ozge Ceyhan‐Birsoy, Diana Mandelker

Mol Genet Genomic Med. 2020 Aug; 8(8): e1293. Published online 2020 May 28. doi: 10.1002/mgg3.1293

PMCID:: PMC7434728

Abstract Article PDF–931K

Select item 717703916.

Multiple Bioinformatics Analyses of Integrated Gene Expression Profiling Data and Verification of Hub Genes Associated with Diabetic Retinopathy

Jiaxin You, Shounan Qi, Yang Du, Chenguang Wang, Guanfang Su

Med Sci Monit. 2020; 26: e923146-1–e923146-12. Prepublished online 2020 Apr 10. Published online 2020 Apr 15. doi: 10.12659/MSM.923146

PMCID:: PMC7177039

Abstract Article PDF–2.3M

Select item 702621517.

Renal cell carcinoma in young FH mutation carriers: case series and review of the literature

J. A. Hol, M. C. J. Jongmans, A. S. Littooij, R. R. de Krijger, R. P. Kuiper, J. J. T. van Harssel, A. Mensenkamp, M. Simons, G. A. M. Tytgat, M. M. van den Heuvel-Eibrink, M. van Grotel

Fam Cancer. 2020; 19(1): 55–63. Published online 2019 Dec 2. doi: 10.1007/s10689-019-00155-3

PMCID:: PMC7026215

Abstract Article PDF–1.5M

Select item 697839718.

Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings

Zichen Zhao, Wenhui Wang, Yan You, Lan Zhu, Fengzhi Feng

Mol Genet Genomic Med. 2020 Jan; 8(1): e1068. Published online 2019 Nov 26. doi: 10.1002/mgg3.1068

PMCID:: PMC6978397

Abstract Article PDF–1.0M

Select item 693033419.

Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma

Liying Zhang, Michael F. Walsh, Sowmya Jairam, Diana Mandelker, Yi Zhong, Yelena Kemel, Ying-Bei Chen, David Musheyev, Ahmet Zehir, Gowtham Jayakumaran, Edyta Brzostowski, Ozge Birsoy, Ciyu Yang, Yirong Li, Joshua Somar, Deborah DeLair, Nisha Pradhan, Michael F. Berger, Karen Cadoo, Maria I. Carlo, Mark E. Robson, Zsofia K. Stadler, Christine A. Iacobuzio-Donahue, Vijai Joseph, Kenneth Offit

Hum Mutat. Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: Hum Mutat. 2020 Jan; 41(1): 103–109. Published online 2019 Sep 3. doi: 10.1002/humu.23900

PMCID:: PMC6930334

Abstract Article PDF–72K

Select item 663795920.

Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma

Cathy D. Vocke, Christopher J. Ricketts, Maria J. Merino, Ramaprasad Srinivasan, Adam R. Metwalli, Lindsay A. Middelton, James Peterson, Youfeng Yang, W. Marston Linehan

Genes Chromosomes Cancer. Author manuscript; available in PMC 2019 Jul 18.

Published in final edited form as: Genes Chromosomes Cancer. 2017 Jun; 56(6): 484–492. Published online 2017 Mar 31. doi: 10.1002/gcc.22452

PMCID:: PMC6637959

Abstract Article PDF–733K

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