Publications:

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: 62C>G; Ala21Gly

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 8
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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PrP is a central player in toxicity mediated by soluble aggregates of neurodegeneration-causing proteins.

Acta Neuropathologica

Corbett, Grant T GT; Wang, Zemin Z; Hong, Wei W; Colom-Cadena, Marti M; Rose, Jamie J; Liao, Meichen M; Asfaw, Adhana A; Hall, Tia C TC; Ding, Lai L; DeSousa, Alexandra A; Frosch, Matthew P MP; Collinge, John J; Harris, David A DA; Perkinton, Michael S MS; Spires-Jones, Tara L TL; Young-Pearse, Tracy L TL; Billinton, Andrew A; Walsh, Dominic M DM

Publication Date: 2020-03

Variant appearance in text: FH: A21G

PubMed Link: 31853635

Variant Present in the following documents:

• 401_2019_Article_2114.pdf

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Model of the pathway of -1 frameshifting: Long pausing.

Biochemistry And Biophysics Reports

Xie, Ping P

Publication Date: 2016-03

Variant appearance in text: FH: A21G

PubMed Link: 28955849

Variant Present in the following documents:

• Main text

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Protein folding, misfolding and aggregation: The importance of two-electron stabilizing interactions.

Plos One

Cieplak, Andrzej Stanisław AS

Publication Date: 2017

Variant appearance in text: FH: A21G

PubMed Link: 28922400

Variant Present in the following documents:

• pone.0180905.pdf

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Dendritic and Langerhans cells respond to Aβ peptides differently: implication for AD immunotherapy.

Oncotarget

Cheng, Jiang J; Lin, Xiaoyang X; Morgan, David D; Gordon, Marcia M; Chen, Xi X; Wang, Zhen-Hai ZH; Li, Hai-Ning HN; He, Lan-Jie LJ; Zhou, Shu-Feng SF; Cao, Chuanhai C

Publication Date: 2015-11-03

Variant appearance in text: FH: A21G

PubMed Link: 26473448

Variant Present in the following documents:

• oncotarget-06-35443.pdf

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