Results 291 to 300 of about 3,725,761 (393)

Prime Editing: Mechanistic Insights and DNA Repair Modulation. [PDF]

Cells
Mentani A, Maresca M, Shiriaeva A.
europepmc   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

ESSENTIAL MEIOTIC ENDONUCLEASE 1 is required for chloroplast development and DNA repair in rice. [PDF]

Plant Biotechnol J
Du Y, Li Y, Tang W, Mo W, Ma T, Lin R.
europepmc   +1 more source

Durable B‐Cell Impairment While Sparing IgA B Cells After Ocrelizumab Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Ocrelizumab (OCR), a humanized anti‐CD20 monoclonal antibody, is highly efficient in relapsing–remitting multiple sclerosis (RR‐MS). We assessed early cellular B‐cell profiles in patients prior to OCR treatment, on OCR treatment, and after 15 months of therapy discontinuation.
Alexandra Garcia, Stephane Rodriguez, Emilie Dugast, Christine Lebrun‐Frenay, Eric Thouvenot, Jérôme de Sèze, Emmanuelle Le Page, Sandra Vukusic, Inès Doghri, Eric Berger, Olivier Casez, Pierre Labauge, Aurélie Ruet, Catarina Raposo, Fabienne Le Frère, Arnaud B. Nicot, Sandrine Wiertlewski, Pierre‐Antoine Gourraud, Laure Michel, Laureline Berthelot, David‐Axel Laplaud   +20 more
wiley   +1 more source

Multiple DNA repair pathways prevent acetaldehyde-induced mutagenesis in yeast. [PDF]

Genetics
Porcher L, Vijayraghavan S, Patel Y, Becker S, Blouin T, McCollum J, Mieczkowski PA, Saini N.   +7 more
europepmc   +1 more source

DNA DAMAGE-REPAIR IN BRAIN HEALTH AND DISEASE: FROM MECHANISMS TO INNOVATIVE THERAPIES

IBRO Neuroscience Reports, 2023
Muralidhar Hegde
doaj  

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

MYC Regulates a DNA Repair Gene Expression Program in Small Cell Carcinoma of the Ovary, Hypercalcemic Type. [PDF]

Cancers (Basel)
Evans JR, Wang J, Reed CN, Creighton JH, Garrison KB, Robertson AN, Lira-Rivera A, Baisden DD, Tansey WP, Al-Tobasei R, Lang JD, Liu Q, Weissmiller AM.   +12 more
europepmc   +1 more source

Repair of DNA treated with. gamma. -irradiation and chemical carcinogens. Comprehensive report of entire period of ERDA support from June 1, 1975--January 15, 1978

, 1978
David A. Goldthwait
openalex   +2 more sources

The Path to DNA Repair [PDF]

Environmental Health Perspectives, 1999
openaire   +2 more sources