Results 151 to 160 of about 2,355,082 (334)

Genetic and Metabolic Eye Disease [PDF]

, 1976
B. Jay
openalex   +1 more source

RARE DISEASES AND GENETIC DISCRIMINATION [PDF]

, 2011
Rare diseases are characterised by their low prevalence (less than 1/2,000) and their heterogeneity. They affect both children and adults anywhere in the world.
Mariela Yaneva – Deliverska
core  

Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data

Molecular Oncology, EarlyView.
This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.
Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda   +12 more
wiley   +1 more source

Editorial: Noncanonical functions of Aminoacyl-tRNA synthetases

Frontiers in Physiology, 2023
Litao Sun, Xiao-Long Zhou, Zhong-Wei Zhou, Haissi Cui   +3 more
doaj   +1 more source

Clinical pharmacology and tolerability of REC‐994, a redox‐cycling nitroxide compound, in randomized phase 1 dose‐finding studies

Pharmacology Research & Perspectives
Cerebral cavernous malformation (CCM) has variable clinical symptoms, including potentially fatal hemorrhagic stroke. Treatment options are very limited, presenting a large unmet need.
Ron Alfa, Timothy Considine, Shafique Virani, Matt Pfeiffer, Anthony Donato, Daniel Dickerson, Diana Shuster, Joel Ellis, Kristen Rushton, Helen Wei, Christopher Gibson   +10 more
doaj   +1 more source

The Prevention of Genetic Disease and Mental Retardation. [PDF]

, 1976
Aubrey Milunsky
openalex   +1 more source

Data‐driven discovery of gene expression markers distinguishing pediatric acute lymphoblastic leukemia subtypes

Molecular Oncology, EarlyView.
This study investigates gene expression differences between two major pediatric acute lymphoblastic leukemia (ALL) subtypes, B‐cell precursor ALL, and T‐cell ALL, using a data‐driven approach consisting of biostatistics and machine learning methods. Following analysis of a discovery dataset, we find a set of 14 expression markers differentiating the ...
Mona Nourbakhsh, Nikola Tom, Anna Schrøder Lassen, Helene Brasch Lind Petersen, Ulrik Kristoffer Stoltze, Karin Wadt, Kjeld Schmiegelow, Matteo Tiberti, Elena Papaleo   +8 more
wiley   +1 more source

« À mains raccourcies » ou l’histoire de l’hémochromatose

UISPP Journal
L’auteur se propose ici de faire le point sur l’histoire de l’hémochromatose, l’une des plus importantes maladies d’origine génétique actuelles. A partir d’exemples récents et de l’étude de deux cas personnels, l’analyse historique de l’hémochromatose ...
Jean Zammit
doaj   +1 more source

Endocrine and Genetic Diseases of Childhood [PDF]

, 1970
P. A. Davies
openalex   +1 more source

MicroRNA 196a contributes to the aggressiveness of esophageal adenocarcinoma through the MYC/TERT/NFκB axis

Molecular Oncology, EarlyView.
mir‐196a promotes Esophagus Adenocarcinoma aggressiveness. On one hand, mir‐196a targets the valosin‐containing protein (VCP) mRNA, causing the accumulation of c‐MYC protein that leads to high amounts of TERT. On the other hand, mir‐196a targets the inhibitor of NFκB (NFKBIA).
Jesús García‐Castillo, Carlos M. Martínez‐Cáceres, Manuel Bernabé‐García, Vicente Munitiz, David Ruiz de Angulo, Pascual Parrilla, Ángeles Ortiz, Luisa F. Martínez de Haro, María L. Cayuela   +8 more
wiley   +1 more source