Publications:

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Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation.

Bmc Cancer

Kamai, Takao T; Murakami, Satoshi S; Arai, Kyoko K; Nishihara, Daisaku D; Uematsu, Toshitaka T; Ishida, Kazuyuki K; Kijima, Toshiki T

Publication Date: 2022-03-18

Variant appearance in text: SDHB: Cys98Tyr; rs1553177768

PubMed Link: 35300626

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9415.pdf

View BVdb publication page

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,

Publication Date: 2022-01

Variant appearance in text: SDHB: 293G>A; Cys98Tyr

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,

Publication Date: 2021-11-19

Variant appearance in text: SDHB: 293G>A; Cys98Tyr

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Journal Of Medical Genetics

Ben Aim, Laurene L; Maher, Eamonn R ER; Cascon, Alberto A; Barlier, Anne A; Giraud, Sophie S; Ercolino, Tonino T; Pigny, Pascal P; Clifton-Bligh, Roderick J RJ; Mirebeau-Prunier, Delphine D; Mohamed, Amira A; Favier, Judith J; Gimenez-Roqueplo, Anne-Paule AP; Schiavi, Francesca F; Toledo, Rodrigo A RA; Dahia, Patricia L PL; Robledo, Mercedes M; Bayley, Jean Pierre JP; Burnichon, Nelly N

Publication Date: 2022-08

Variant appearance in text: SDHB: 293G>A; Cys98Tyr

PubMed Link: 34452955

Variant Present in the following documents:

• jmedgenet-2020-107652supp002.xlsx, sheet 1

View BVdb publication page

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Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.

Journal Of Cancer Research And Clinical Oncology

Jochmanova, Ivana I; Abcede, April Melody T AMT; Guerrero, Ruby Jane S RJS; Malong, Chandy Lou P CLP; Wesley, Robert R; Huynh, Thanh T; Gonzales, Melissa K MK; Wolf, Katherine I KI; Jha, Abhishek A; Knue, Marianne M; Prodanov, Tamara T; Nilubol, Naris N; Mercado-Asis, Leilani B LB; Stratakis, Constantine A CA; Pacak, Karel K

Publication Date: 2020-04

Variant appearance in text: SDHB: 293G>A; Cys98Tyr

PubMed Link: 32062700

Variant Present in the following documents:

• Main text

View BVdb publication page

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHB: 293G>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

View BVdb publication page

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SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

Journal Of The National Cancer Institute

Saxena, Neetu N; Maio, Nunziata N; Crooks, Daniel R DR; Ricketts, Christopher J CJ; Yang, Youfeng Y; Wei, Ming-Hui MH; Fan, Teresa W-M TW; Lane, Andrew N AN; Sourbier, Carole C; Singh, Anamika A; Killian, J Keith JK; Meltzer, Paul S PS; Vocke, Cathy D CD; Rouault, Tracey A TA; Linehan, W Marston WM

Publication Date: 2016-01

Variant appearance in text: SDHB: 293G>A; Cys98Tyr

PubMed Link: 26719882

Variant Present in the following documents:

• Main text

View BVdb publication page

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Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

Cellular Oncology : The Official Journal Of The International Society For Cellular Oncology

Hermsen, Mario A MA; Sevilla, María A MA; Llorente, José Luis JL; Weiss, Marjan M MM; Grimbergen, Anneliese A; Allonca, Eva E; Garcia-Inclán, Cristina C; Balbín, Milagros M; Suárez, Carlos C

Publication Date: 2010-01-01

Variant appearance in text: SDHB: 293G>A; Cys98Tyr

PubMed Link: 20208144

Variant Present in the following documents:

• ACP-2010-32-4-312760.pdf

View BVdb publication page

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