Results 51 to 60 of about 97,339 (261)

Prevalence and clinicopathological correlates of MSI/dMMR in colorectal cancer: a prospective multicenter registry study from Russia

Frontiers in Oncology
BackgroundMicrosatellite instability/mismatch repair deficiency are well-established predictive biomarkers for immune checkpoint inhibitor therapy and are used to identify candidates for Lynch syndrome screening in colorectal cancer.
Dmitrii Semenov, Sergey Achkasov, Natalya Bodunova, Ashot Avdalyan, Alexey Barinov, Anzhelika Chegodar, Ilya Chernikovskiy, Nikita Chizhikov, Mikhail Danilov, Irina Demidova, Vladislav Dmitriev, Dmitry Erygin, Mikhail Fedyanin, Mikhail Fedyanin, Mikhail Fedyanin, Vsevolod Galkin, Daria Ivanilova, Dmitriy Kanner, Nikolay Karnaukhov, Oleg Karpov, Igor Khatkov, Dina Kolesnikova, Ekaterina Kotova, Olga Maynovskaia, Oleg Penzin, Dmitry Pikunov, Andrey Pulin, Nikita Savelov, Anna Semenova, Vitaly Shatalov, Vitaly Shubin, Ilya Sklyar, Oleg Yudin, Evgeniy Zakurdaev, Ilya Pokataev, Alexey Tsukanov   +35 more
doaj   +1 more source

Strand asymmetry influences mismatch resolution during a single-strand annealing

Genome Biology, 2022
Background Biases of DNA repair can shape the nucleotide landscape of genomes at evolutionary timescales. The molecular mechanisms of those biases are still poorly understood because it is difficult to isolate the contributions of DNA repair from those ...
Victoria O. Pokusaeva, Aránzazu Rosado Diez, Lorena Espinar, Albert Torelló Pérez, Guillaume J. Filion   +4 more
doaj   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation

The Journal of Pathology: Clinical Research, 2019
Immunohistochemistry (IHC) for mismatch repair (MMR) proteins is used to identify MMR status: being diffusely positive (intact/retained nuclear staining) or showing loss of nuclear tumour staining (MMR protein deficient). Four colonic adenocarcinomas and
Aoife J McCarthy, Jose‐Mario Capo‐Chichi, Tara Spence, Sylvie Grenier, Tracy Stockley, Suzanne Kamel‐Reid, Stefano Serra, Peter Sabatini, Runjan Chetty   +8 more
doaj   +1 more source

Sensing and Processing of DNA Interstrand Crosslinks by the Mismatch Repair Pathway

Cell Reports, 2017
Summary: DNA interstrand crosslinks (ICLs) that are repaired in non-dividing cells must be recognized independently of replication-associated DNA unwinding. Using cell-free extracts from Xenopus eggs that support neither replication nor transcription, we
Niyo Kato, Yoshitaka Kawasoe, Hannah Williams, Elena Coates, Upasana Roy, Yuqian Shi, Lorena S. Beese, Orlando D. Schärer, Hong Yan, Max E. Gottesman, Tatsuro S. Takahashi, Jean Gautier   +11 more
doaj   +1 more source

T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ± 
Sarah J. Wright, Scotty G. McKay, Jean Ramos Bou, Fen Bao, Vivian B. Truong, Chenyang Li, Li Jiang, Anza B. Memon, E. Mark Haacke, Yulin Ge, Yongsheng Chen   +10 more
wiley   +1 more source

Mechanisms in Eukaryotic Mismatch Repair [PDF]

Journal of Biological Chemistry, 2006
Inactivation of the human mismatch repair system confers a large increase in spontaneous mutability and a strong predisposition to tumor development. Mismatch repair provides several genetic stabilization functions: it corrects DNA biosynthetic errors, ensures the fidelity of genetic recombination, and participates in the earliest steps of checkpoint ...
openaire   +2 more sources

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park, Eun‐Hyuk Choi, Jorge Otero‐Millan, David S. Zee, Jeong‐Yoon Choi, Ji‐Soo Kim   +5 more
wiley   +1 more source

Case report: a rare case of hereditary colorectal cancer and brain tumor with café au lait spots in a child: constitutional mismatch repair deficiency (CMMRD) syndrome

Egyptian Pediatric Association Gazette
Background Colorectal carcinoma (CRC) is rarely seen in the pediatric population. Hereditary cancers due to mismatch repair deficiency cause colorectal, brain, hematological malignancies, and other tumors in early childhood.
Zubair Khurshid, Mishraz Shaikh, Tarek Talaat Harb Elkadi   +2 more
doaj   +1 more source

White Matter and Perivascular Imaging Changes in Alzheimer's Disease and Cerebral Amyloid Angiopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peak‐width of skeletonized mean diffusivity (PSMD) and diffusion tensor imaging–analysis along the perivascular space (DTI‐ALPS), reflecting white matter integrity and glymphatic function, are altered in Alzheimer's disease (AD).
Debina Laishram, Guangwei Du, Sangam Kanekar, Nandakumar Nagaraja   +3 more
wiley   +1 more source