Title: Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer
Authors: last_name: Mahdouani
first_name: Marwa
name: Marwa Mahdouani
affiliations: label: 1
address: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
name: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
label: 2
address: Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia
name: Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia
last_name: Ben Ahmed
first_name: Slim
name: Slim Ben Ahmed
affiliations: label: 3
address: Department of Oncology, Farhat Hached University Hospital, Sousse, Tunisia
name: Department of Oncology, Farhat Hached University Hospital, Sousse, Tunisia
label: 4
address: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
name: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
last_name: Hmila
first_name: Fahmi
name: Fahmi Hmila
affiliations: label: 4
address: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
name: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
label: 5
address: Department of General and Digestive Surgery, Farhat Hached University Hospital, Sousse, Tunisia
name: Department of General and Digestive Surgery, Farhat Hached University Hospital, Sousse, Tunisia
last_name: Rais
first_name: Henda
name: Henda Rais
affiliations: label: 6
address: Medical Service, Salah Azaiez Institute, Tunis, Tunisia
name: Medical Service, Salah Azaiez Institute, Tunis, Tunisia
last_name: Ben Sghaier
first_name: Rihab
name: Rihab Ben Sghaier
affiliations: label: 1
address: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
name: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
label: 2
address: Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia
name: Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia
last_name: Saad
first_name: Hanene
name: Hanene Saad
affiliations: label: 1
address: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
name: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
label: 2
address: Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia
name: Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia
last_name: Ben Said
first_name: Mariem
name: Mariem Ben Said
affiliations: label: 7
address: Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia
name: Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia
last_name: Masmoudi
first_name: Saber
name: Saber Masmoudi
affiliations: label: 7
address: Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia
name: Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia
last_name: Hmida
first_name: Dorra
name: Dorra Hmida
affiliations: label: 1
address: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
name: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
label: 4
address: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
name: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
last_name: Brieger
first_name: Angela
name: Angela Brieger
affiliations: label: 8
address: Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany
name: Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany
last_name: Zeuzem
first_name: Stefan
name: Stefan Zeuzem
affiliations: label: 8
address: Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany
name: Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany
last_name: Saad
first_name: Ali
name: Ali Saad
affiliations: label: 1
address: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
name: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
label: 4
address: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
name: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
last_name: Gribaa
first_name: Moez
name: Moez Gribaa
affiliations: label: 1
address: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
name: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
label: 4
address: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
name: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
orcid: https://orcid.org/0000-0001-5314-9739
last_name: Plotz
first_name: Guido
name: Guido Plotz
corresponding: yes
affiliations: label: 8
address: Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany
name: Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany
Affiliations: label: 1
address: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
name: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
label: 2
address: Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia
name: Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia
label: 3
address: Department of Oncology, Farhat Hached University Hospital, Sousse, Tunisia
name: Department of Oncology, Farhat Hached University Hospital, Sousse, Tunisia
label: 4
address: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
name: Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia
label: 5
address: Department of General and Digestive Surgery, Farhat Hached University Hospital, Sousse, Tunisia
name: Department of General and Digestive Surgery, Farhat Hached University Hospital, Sousse, Tunisia
label: 6
address: Medical Service, Salah Azaiez Institute, Tunis, Tunisia
name: Medical Service, Salah Azaiez Institute, Tunis, Tunisia
label: 7
address: Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia
name: Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia
label: 8
address: Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany
name: Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany
address: University of Campania Luigi Vanvitelli: Universita degli Studi della Campania Luigi Vanvitelli, ITALY
name: University of Campania Luigi Vanvitelli: Universita degli Studi della Campania Luigi Vanvitelli, ITALY
Field: Medicine
Document type: article
Year: 2022