Publications:

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Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.

Plos One

Mahdouani, Marwa M; Ben Ahmed, Slim S; Hmila, Fahmi F; Rais, Henda H; Ben Sghaier, Rihab R; Saad, Hanene H; Ben Said, Mariem M; Masmoudi, Saber S; Hmida, Dorra D; Brieger, Angela A; Zeuzem, Stefan S; Saad, Ali A; Gribaa, Moez M; Plotz, Guido G

Publication Date: 2022

Variant appearance in text: MLH1: Leu749Gln

PubMed Link: 36454741

Variant Present in the following documents:

• pone.0278283.pdf

View BVdb publication page

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PMS2 variant results in loss of ATPase activity without compromising mismatch repair.

Molecular Genetics & Genomic Medicine

D'Arcy, Brandon M BM; Arrington, Jennifer J; Weisman, Justin J; McClellan, Steven B SB; Vandana, ; Yang, Zhengrong Z; Deivanayagam, Champion C; Blount, Jessa J; Prakash, Aishwarya A

Publication Date: 2022-02-21

Variant appearance in text: MLH1: Leu749Gln

PubMed Link: 35189042

Variant Present in the following documents:

• MGG3-10-e1908.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: rs267607894

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Elife

Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R

Publication Date: 2019-11-07

Variant appearance in text: MLH1: leu749gln

PubMed Link: 31697235

Variant Present in the following documents:

• elife-49138.pdf

View BVdb publication page

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Protein stability of p53 targets determines their temporal expression dynamics in response to p53 pulsing.

The Journal Of Cell Biology

Hanson, Ryan L RL; Porter, Joshua R JR; Batchelor, Eric E

Publication Date: 2019-04-01

Variant appearance in text: MLH1: Leu749Gln

PubMed Link: 30745421

Variant Present in the following documents:

• JCB_201803063.pdf

View BVdb publication page

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Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome.

Gastroenterology Research And Practice

Moreno-Ortiz, Jose Miguel JM; Ayala-Madrigal, María de la Luz Mde L; Corona-Rivera, Jorge Román JR; Centeno-Flores, Manuel M; Maciel-Gutiérrez, Víctor V; Franco-Topete, Ramón Antonio RA; Armendáriz-Borunda, Juan J; Hotchkiss, Erin E; Pérez-Carbonell, Lucia L; Rhees, Jennifer J; Boland, Clement Richard CR; Gutiérrez-Angulo, Melva M

Publication Date: 2016

Variant appearance in text: MLH1: Leu749Gln

PubMed Link: 27247567

Variant Present in the following documents:

• GRP2016-5278024.pdf

View BVdb publication page

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Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.

Hereditary Cancer In Clinical Practice

Heinen, Christopher D CD; Juel Rasmussen, Lene L

Publication Date: 2012-07-23

Variant appearance in text: MLH1: L749Q

PubMed Link: 22824075

Variant Present in the following documents:

• Main text
• 1897-4287-10-9.pdf

View BVdb publication page

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Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

Bmc Medical Genetics

Castillejo, Adela A; Guarinos, Carla C; Martinez-Canto, Ana A; Barbera, Victor-Manuel VM; Egoavil, Cecilia C; Castillejo, Maria-Isabel MI; Perez-Carbonell, Lucia L; Sanchez-Heras, Ana-Beatriz AB; Segura, Angel A; Ochoa, Enrique E; Lazaro, Rafael R; Ruiz-Ponte, Clara C; Bujanda, Luis L; Andreu, Montserrat M; Castells, Antoni A; Carracedo, Angel A; Llor, Xavier X; Clofent, Juan J; Alenda, Cristina C; Paya, Artemio A; Jover, Rodrigo R; Soto, Jose-Luis JL

Publication Date: 2011-01-19

Variant appearance in text: MLH1: Leu749Gln

PubMed Link: 21247423

Variant Present in the following documents:

• 1471-2350-12-12.pdf

View BVdb publication page

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A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

The Journal Of Molecular Diagnostics : Jmd

Perera, Sheron S; Li, Brian B; Tsitsikotas, Soultana S; Ramyar, Lily L; Pollett, Aaron A; Semotiuk, Kara K; Bapat, Bharati B

Publication Date: 2010-11

Variant appearance in text: MLH1: 2246T>A

PubMed Link: 20864636

Variant Present in the following documents:

• Main text

View BVdb publication page

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