Results 51 to 60 of about 19,899 (215)

PMS2-associated Lynch syndrome: Past, present and future

Frontiers in Oncology, 2023
Carriers of any pathogenic variant in one of the MMR genes (path_MMR carriers) were traditionally thought to be at comparable risk of developing a range of different malignancies, foremost colorectal cancer (CRC) and endometrial cancer. However, it is now widely accepted that their cancer risk and cancer spectrum range notably depending on which MMR ...
Katarina D. Andini, Maartje Nielsen, Manon Suerink, Noah C. Helderman, Jan Jacob Koornstra, Aysel Ahadova, Matthias Kloor, Marian J.E. Mourits, Klaas Kok, Rolf H. Sijmons, Sanne W. Bajwa–ten Broeke   +10 more
openaire   +3 more sources

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

PLoS ONE, 2014
BackgroundFriedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression.
Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook   +5 more
doaj   +1 more source

A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing

Cell Death and Disease, 2021
Hereditary non-polyposis colorectal cancer, now known as Lynch syndrome (LS) is one of the most common cancer predisposition syndromes and is caused by germline pathogenic variants (GPVs) in DNA mismatch repair (MMR) genes.
Kajal Biswas, Martin Couillard, Luca Cavallone, Sandra Burkett, Stacey Stauffer, Betty K. Martin, Eileen Southon, Susan Reid, Teri M. Plona, Ryan N. Baugher, Stephanie D. Mellott, Kristen M. Pike, Mary E. Albaugh, Chelsea Maedler-Kron, Nancy Hamel, Lino Tessarollo, Victoria Marcus, William D. Foulkes, Shyam K. Sharan   +18 more
doaj   +1 more source

Assessment of Microsatellite Instability in Endometrioid Carcinoma by Immunohistochemistry At Armed Forces Institute of Pathology, Rawalpindi

Pakistan Armed Forces Medical Journal, 2022
Objective: To assess microsatellite instability in endometrioid carcinoma by immunohistochemistry expression of MLH1, PMS2, MSH2 and MSH6. Study design: Case series. Place and Duration of Study: Department of Histopathology, Armed Forces Institute
Ayesha Arif, Farhan Akhtar, Ahmed Ahsan, Hafeez Ud Din, Rabia Ahmed, Aminah Ahmed   +5 more
doaj   +1 more source

A Biofabricated Human Acinus‐on‐a‐Chip Unveils Mechanotransductive Drivers of Ventilator‐Induced Lung Injury via Decoupling Volutrauma and Barotrauma

Advanced Science, EarlyView.
This bioinspired acinus‐on‐a‐chip recapitulates VILI pathology, revealing that volutrauma drives P53/NF‐κB pathways while barotrauma triggers mitochondrial‐Wnt dysregulation. A fibrotic transitional cell cluster was identified. Pharmacological interventions targeting these pathways significantly ameliorated injury, establishing a mechanobiological ...
Heng Lu, Liansheng Liu, Zengyong Hu, Shuxian Fang, Ruohan Ren, Sidi Liu, Meng Zhao, Zhiting Luo, Ziyue Zhang, Wenlong Shao, Qian Liu   +10 more
wiley   +1 more source

Tissue‐Agnostic Cellular Morphometric Biomarkers for Risk‐Adapted Management Across Gastrointestinal Precancerous Lesions and Cancers

Advanced Science, EarlyView.
An interpretable, unsupervised artificial intelligence framework identifies a 13‐cellular morphometric biomarker (CMB) signature from routine H&E whole‐slide images. Validated across 2,602 patients, the fixed signature generalizes across colorectal, gastric, and esophageal tissues without retraining, stratifies prognosis and precancerous lesion risk ...
Pin Wang, Chengfei Jiang, April W. Mao, Qi Sun, Yijun Lu, Jingjing Wei, Jamie L. Inman, Susan E. Celniker, Antoine M. Snijders, David W. Threadgill, Allan Balmain, Bo Hang, Hang Chang, Lei Wang, Jian‐Hua Mao   +14 more
wiley   +1 more source

Dye tags influence single expression of MLH1 and PMS2.

, 2013
To determine the influence of fluorescent tags on single expressed MLH1 or PMS2 variants, HEK293T cells were transfected with different (A) MLH1 or (B) PMS2 constructs.
Ronja Adam (333161), Guido Plotz (22851), Inga Hinrichsen (333159), Angela Brieger (333158), Sandra Passmann (333160), Stefan Zeuzem (22856)   +5 more
core   +1 more source

Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

Frontiers in Oncology
IntroductionLynch syndrome (LS) is an inherited cancer predisposition syndrome characterized by a high risk of colorectal and extracolonic tumors. Germline pathogenic variants (GPV) in the PMS2 gene are associated with <15% of all cases.
Daniele Paixão, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva-Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne-Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Baratela   +9 more
doaj   +1 more source

Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility

BMC Medicine, 2012
Background The mismatch repair (MMR) pathway plays an important role in the maintenance of the genome integrity, meiotic recombination and gametogenesis.
Ji Guixiang, Long Yan, Zhou Yong, Huang Cong, Gu Aihua, Wang Xinru   +5 more
doaj   +1 more source

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report

BMC Medical Genomics, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2, MLH1, MSH6, and PMS2.
Shiqing Tan, Xiaoting Wu, Aoxue Wang, Li Ying   +3 more
doaj   +1 more source