Results 121 to 130 of about 60,203 (254)
BRCA2 peptides functional in HR.
, 2013 A. Micro-BRCA2 domain structure. Micro-BRCA2 contains three domains – the PALB2 interaction site, BRC1–2, and the Cter, whereas zippo-BRCA2 is deleted for the BRC repeats. B. Western blot analysis showing expression of the indicated BRCA2 peptides.
Akinori Egashira (58875) +7 more
core +1 more source
Patient Preference and Adherence, 2021 Nick Spindler,1 Franziska Ebel,1 Susanne Briest,2 Sandra Wallochny,2 Stefan Langer1 1Department of Orthopedic Surgery, Traumatology and Plastic Surgery, University Hospital Leipzig, Leipzig, Germany; 2Department of Gynecology, Women’s and Children ...
Spindler N +4 more
doaj
Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling
Cytopathology, EarlyView.Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu +3 more
wiley +1 more source
Low Frequency of 185delAG Founder Mutation of BRCA1 Gene in Iranian Breast Cancer Patients [PDF]
AIM: The mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, are frequently associated with familial breast cancer. In this study, we aimed to investigate the probable founder mutations of BRCA1 and BRCA2 genes in Iranian breast ...
حسینی اصل, سید سعید +5 more
core
When to consider an inborn error of immunity: clues for physicians
Internal Medicine Journal, EarlyView.Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source
Oral Diseases, EarlyView.ABSTRACT Aim The objective of this study was to investigate the global profile of plasmatic proteins of individuals affected simultaneously or not by type 2 diabetes mellitus (T2DM, well/poorly‐controlled), Dyslipidemia (DL), and Periodontitis (P). Methods Besides periodontal examination, plasma was collected for glycemic, and lipid analyses from 150 ...
François Isnaldo Dias Caldeira +7 more
wiley +1 more source
Veterinary and Comparative Oncology, EarlyView.ABSTRACT Gene expression profiling (GEP) is being used with increasing frequency to characterise canine tumours, but canine samples are often not collected in a medium to preserve RNA. Cytology samples from human tumours have been shown to provide adequate RNA for GEP using NanoString nCounter technology, suggesting a similar approach might be viable ...
McKenzie Olsen +5 more
wiley +1 more source
Population testing for cancer predisposing BRCA1/BRCA2 mutations
, 2014 Background: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages.
Wardle, J
core
Balkan Journal of Medical GeneticsThe purpose of our study is to expedite cancer diagnosis through the development of software for rapid detection of hereditary breast cancer (BC) with negative BRCA1/2 on MATLAB, utilizing a fuzzy logic system with several variants of genes associated ...
Senturk N +8 more
doaj +1 more source
Pharmacogenomics and Personalized Medicine, 2021 Nan Guo,1 Peng Qu,2 Hao Li,2 Liuli Liu,2 Hao Jin,3 Renqi Liu,3 Zhen Zhang,3 Xuan Zhang,2 Yingchun Li,4 Xiaobo Lu,2 Yuejiao Zhao1 1Department of Head and Neck Surgery, Cancer Hospital of China Medical University, Liaoning Cancer Hospital & Institute ...
Guo N +10 more
doaj