Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: R227W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.

Free Radical Biology & Medicine

Banda, Douglas M DM; Nuñez, Nicole N NN; Burnside, Michael A MA; Bradshaw, Katie M KM; David, Sheila S SS

Publication Date: 2017-06

Variant appearance in text: MSH2: R227W

PubMed Link: 28087410

Variant Present in the following documents:

• Main text

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MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.

Frontiers In Oncology

Venesio, Tiziana T; Balsamo, Antonella A; D'Agostino, Vito G VG; Ranzani, Guglielmina N GN

Publication Date: 2012

Variant appearance in text: MSH2: R227W

PubMed Link: 22876359

Variant Present in the following documents:

• fonc-02-00083.pdf

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MUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer.

Hereditary Cancer In Clinical Practice

Stormorken, Astrid A; Heintz, Karen-Marie KM; Andresen, Per Arne PA; Hovig, Eivind E; Møller, Pål P

Publication Date: 2006-05-15

Variant appearance in text: MSH2: R227W

PubMed Link: 20223013

Variant Present in the following documents:

• 1897-4287-4-2-90.pdf

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Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis.

Nucleic Acids Research

Bai, Haibo H; Jones, Siân S; Guan, Xin X; Wilson, Teresa M TM; Sampson, Julian R JR; Cheadle, Jeremy P JP; Lu, A-Lien AL

Publication Date: 2005

Variant appearance in text: MSH2: R227W

PubMed Link: 15673720

Variant Present in the following documents:

• gki209.pdf

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