Results 211 to 220 of about 143,588 (347)

Морфологические особенности BRCA1‑ассоциированных опухолей

, 2018
BRCA1‑ассоциированные новообразования представляют собой большую гетерогенную группу опухолей с различным фенотипом, клинической картиной и прогнозом. Наличие мутации BRCA1 позволяет использовать современные эффективные стратегии лекарственной терапии ...
А. О. Иванцов, E. H. Имянитов, А. П. Соколенко, Р. А. Насыров   +3 more
core  

BRCA1/2 Reversion Mutations and Cancer Therapy Resistance. [PDF]

Biology (Basel)
Qi W, Yang G, Zhang Y, Han L, Mayo KH, Zeng X, Mo J.   +6 more
europepmc   +1 more source

The R203W substitution drives PACS‐1 syndrome by disrupting intramolecular regulation

The FEBS Journal, EarlyView.
The middle region (MR) of PACS‐1 controls engagement with specific partner proteins. This manuscript presents the structure of the Furin binding region (FBR) and how interactions with partners are regulated through the interplay between a basic patch in the FBR and an acidic cluster in the MR.
Troy C. Krzysiak, In‐Ja L. Byeon, Ryan Ponticelli, Mary E. Lucas, Lariah Thompson, Christopher DeHaven, Gary Thomas, Angela M. Gronenborn   +7 more
wiley   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

BRCA1 deficiency induces NFκB-dependent type-I interferon signaling in fallopian tube epithelial cells. [PDF]

Neoplasia
Madaan V, Kollara A, Spaner D, Brown TJ.
europepmc   +1 more source

ATXR5 and ATXR6 restrict meiotic crossover formation within heterochromatin in Arabidopsis

Journal of Integrative Plant Biology, EarlyView.
The Arabidopsis H3K27 mono‐methyltransferases ATXR5 and ATXR6 repress crossovers within meiotic heterochromatin, are required for heterochromatin condensation and H3K27me1 establishment, and specifically influence the maintenance of DNA methylation in meiocytes.
Jun Zhang, Yue Yu, Han Wang, Meiling Li, Dingning Li, Chenjiang You, Yingxiang Wang, Cong Wang   +7 more
wiley   +1 more source

Meta-analysis of BRCA1 and BRCA2 penetrance.

Journal of Clinical Oncology, 2007
Sining Chen, G. Parmigiani
semanticscholar   +1 more source

Molecular architecture of the tumor microenvironment caused by <i>BRCA1</i> and <i>BRCA2</i> somatic mutations in human lung adenocarcinoma. [PDF]

Elife
Liao G, Yang X, Liu Q, Nan S, Liu Y, Li J, Huang S, Ning W, Qin X, Xu G.   +9 more
europepmc   +1 more source

Optimizing Hereditary Cancer Risk Assessment and Genetic Testing Workflow in Interprofessional Women's Health Practice: A Multicenter Survey of Advanced Practice Providers

Journal of Midwifery &Women's Health, EarlyView.
Introduction Advanced practice providers (APPs), including certified nurse‐midwives (CNMs)/certified midwives and nurse practitioners, are well positioned to meet the growing demand for women's health care services. In interprofessional obstetric and gynecologic settings, APPs’ scope of practice includes performing hereditary cancer risk assessments ...
Elaine Mielcarski, Dana Karanik, Heather Bagley, Edith Smith, Amanda Steele, Logan Schneider, Lauren Lenz, Royce T. Adkins   +7 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source