Results 11 to 20 of about 1,149,362 (252)

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD) [PDF]

BMC Medical Genetics, 2017
Background Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2.
N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie, D. G. Evans   +3 more
doaj   +3 more sources

Biallelic Mismatch Repair Deficiency in an Adolescent Female

Case Reports in Genetics, 2018
Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Amber Hildreth, Mark A. Valasek, Irene Thung, Thomas Savides, Mamata Sivagnanam, Sonia Ramamoorthy, Sherry Huang   +6 more
doaj   +2 more sources

Proofreading deficiency of Pol I increases the levels of spontaneous rpoB mutations in E. coli [PDF]

, 2011
The fidelity role of DNA polymerase I in chromosomal DNA replication in E. coli was investigated using the rpoB forward target. These experiments indicated that in a strain carrying a proofreading-exonuclease-defective form of Pol I (polAexo mutant) the ...
Jonczyk, Piotr, K. Makiela-Dzbenska, P. Jonczyk, Fijalkowska, Iwona J., Schaaper, Roel, R.M. Schaaper, I.J. Fijalkowska, Makiela-Dzbenska, Karolina   +7 more
core   +2 more sources

Immune Checkpoint Inhibitors in Tumors Harboring Homologous Recombination Deficiency: Challenges in Attaining Efficacy

Frontiers in Immunology, 2022
Cancer cells harbor genomic instability due to accumulated DNA damage, one of the cancer hallmarks. At least five major DNA Damage Repair (DDR) pathways are recognized to repair DNA damages during different stages of the cell cycle, comprehending base ...
Saulo Brito Silva, Carlos Wagner S. Wanderley, Leandro Machado Colli   +2 more
doaj   +1 more source

Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report

BMC Gastroenterology, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is an extremely rare autosomal recessive hereditary disease characterized by the absence of mismatch repair gene activity from birth, which results in brain tumors, colonic polyposis ...
Takayuki Ando, Takahiko Nakajima, Rei Fukuda, Keiko Nomura, Yo Niida, Miho Sakumura, Iori Motoo, Hiroshi Mihara, Sohachi Nanjo, Shinya Kajiura, Haruka Fujinami, Shojo Hojo, Tsutomu Fujii, Ichiro Yasuda   +13 more
doaj   +1 more source

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation

Haematologica, 2010
Biallelic mutations of mismatch repair genes cause constitutional mismatch repair deficiency associated with an increased risk for childhood leukemia/lymphoma.
Tim Ripperger, Carmela Beger, Nils Rahner, Karl W. Sykora, Clemens L. Bockmeyer, Ulrich Lehmann, Hans H. Kreipe, Brigitte Schlegelberger   +7 more
doaj   +1 more source

Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature

The Turkish Journal of Pediatrics, 2021
Background. Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes.
Derya Özyörük, Emel Ünal Cabı, Nurdan Taçyıldız, Ferda Pınarlı, Ayşe Oğuz Erdoğan, Şahin Hanalioğlu, Arzu Yazal Erdem, Arzu Meltem Demir   +7 more
doaj   +1 more source

Attaching and effacing Escherichia coli downregulate DNA mismatch repair protein in vitro and are associated with colorectal adenocarcinomas in humans [PDF]

, 2009
Background: Mucosa-associated Escherichia coli are frequently found in the colonic mucosa of patients with colorectal adenocarcinoma, but rarely in healthy controls. Chronic mucosal E. coli infection has therefore been linked to colonic tumourigenesis. E.
Short, Abigail J., Abigail J Short, Maddocks, Oliver D. K., Donnenberg, Michael S., Abigail J. Short, David J Harrison, Oliver D K Maddocks, Bader, Scott, Scott Bader, Michael S. Donnenberg, Michael S Donnenberg, Maddocks, Oliver D.K., Oliver D. K. Maddocks, David J. Harrison, Harrison, David J.   +14 more
core   +2 more sources

Mismatch repair deficiency/microsatellite instability-high as a predictor for anti-PD-1/PD-L1 immunotherapy efficacy

Journal of Hematology & Oncology, 2019
Immunotherapies have led to substantial changes in cancer treatment and have been a persistently popular topic in cancer research because they tremendously improve the efficacy of treatment and survival of individuals with various cancer types.
Pengfei Zhao, Li Li, Xiaoyue Jiang, Qin Li   +3 more
doaj   +1 more source

C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins [PDF]

, 2012
The human DNA mismatch repair (MMR) process is crucial to maintain the integrity of the genome and requires many different proteins which interact perfectly and coordinated.
Hinrichsen, Inga Malena, Stefan Zeuzem, Hinrichsen Inga, Sandra Passmann, Plotz Guido, Adam, Ronja Sophia Mercedes, Plotz, Guido, Zeuzem Stefan, Guido Plotz, Passmann, Sandra, Angela Brieger, Ronja Adam, Brieger, Angela, Inga Hinrichsen, Brieger Angela, Passmann Sandra, Adam Ronja, Zeuzem, Stefan   +17 more
core   +2 more sources