Publications:

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Circulating succinate-modifying metabolites accurately classify and reflect the status of fumarate hydratase-deficient renal cell carcinoma.

The Journal Of Clinical Investigation

Zheng, Liang L; Zhu, Zi-Ran ZR; Sneh, Tal T; Zhang, Weituo W; Wang, Zao-Yu ZY; Wu, Guang-Yu GY; He, Wei W; Qi, Hong-Gang HG; Wang, Hang H; Wu, Xiao-Yu XY; Fernández-García, Jonatan J; Abramovich, Ifat I; Xu, Yun-Ze YZ; Zhang, Jin J; Gottlieb, Eyal E

Publication Date: 2023-04-13

Variant appearance in text: FH: C333Y

PubMed Link: 37053010

Variant Present in the following documents:

• Main text
• jci-133-165028.pdf

View BVdb publication page

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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Human Genome Variation

Yagi, Yasuto Y; Abeto, Naoko N; Shiraishi, Junichi J; Miyata, Chieko C; Inoue, Satomi S; Murakami, Haruka H; Nakashima, Moeko M; Sugano, Kokichi K; Ushiama, Mineko M; Yoshida, Teruhiko T; Yamazawa, Kazuki K

Publication Date: 2022-01-17

Variant appearance in text: FH: 998G>A; Cys333Tyr

PubMed Link: 35034951

Variant Present in the following documents:

• 41439_2021_180_MOESM1_ESM.pdf

View BVdb publication page

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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Human Genome Variation

Yagi, Yasuto Y; Abeto, Naoko N; Shiraishi, Junichi J; Miyata, Chieko C; Inoue, Satomi S; Murakami, Haruka H; Nakashima, Moeko M; Sugano, Kokichi K; Ushiama, Mineko M; Yoshida, Teruhiko T; Yamazawa, Kazuki K

Publication Date: 2022-01-17

Variant appearance in text: FH: 998G>A; Cys333Tyr

PubMed Link: 35034951

Variant Present in the following documents:

• 41439_2021_180_MOESM1_ESM.pdf

View BVdb publication page

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

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 998G>A; Cys333Tyr

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease

Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U

Publication Date: 2011-06

Variant appearance in text: FH: 998G>A; C333Y

PubMed Link: 21445611

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9294.pdf

View BVdb publication page

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The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bmc Medical Genetics

Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP

Publication Date: 2008-03-25

Variant appearance in text: FH: Cys333Tyr

PubMed Link: 18366737

Variant Present in the following documents:

• 1471-2350-9-20.pdf

View BVdb publication page

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