Results 341 to 350 of about 4,570,575 (370)

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

Pain in idiopathic scoliosis not associated with known genetic variants for pain. [PDF]

Pain Rep
Cheng T, Diarbakerli E, Simony A, Østerheden Andersen M, Danielsson A, Kere J, Einarsdottir E, Gerdhem P.   +7 more
europepmc   +1 more source

Understanding and measuring mechanical signals in the tumor stroma

FEBS Open Bio, EarlyView.
This review discusses cancer‐associated fibroblast subtypes and their functions, particularly in relation to extracellular matrix production, as well as the development of 3D models to study tumor stroma mechanics in vitro. Several quantitative techniques to measure tissue mechanical properties are also described, to emphasize the diagnostic and ...
Fàtima de la Jara Ortiz, Chiara Cimmino, Maurizio Ventre, Alessandra Cambi   +3 more
wiley   +1 more source

Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis. [PDF]

Clin Rheumatol
Ozer L, Koksal H.
europepmc   +1 more source

The Heme Oxygenase/Biliverdin Reductase System and Its Genetic Variants in Physiology and Diseases. [PDF]

Antioxidants (Basel)
Mancuso C.
europepmc   +1 more source

EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders. [PDF]

Front Endocrinol (Lausanne)
Buzdin AA, Zolotovskaia MA, Roumiantsev SA, Emelyanova AG, Golounina OO, Pugacheva PA, Luppov DV, Kuzminyh AV, Alexeeva AO, Emelianova AA, Novoselov AL, Matrosova A, Slepukhina AA, Popov SV, Plaksina EV, Petrov VM, Guselnikova AR, Shagina AD, Suntsova MV, Zakharova VV, Belaya ZE, Vorontsova MV, Melnichenko GA, Mokrysheva NG, Chekhonin VP, Dedov II.   +25 more
europepmc   +1 more source

Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants. [PDF]

Brief Bioinform
Yuan M, Goovaerts S, Lee MK, Devine J, Richmond S, Walsh S, Shriver MD, Shaffer JR, Marazita ML, Peeters H, Weinberg SM, Claes P.   +11 more
europepmc   +1 more source

Genetic variants of the DLK1, KISS1R, MKRN3 genes in girls with precocious puberty. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Sazhenova EA, Vasilyeva OY, Fonova EA, Kankanam Pathiranage MB, Sambyalova AY, Khramova EE, Rychkova LV, Vasilyev SA, Lebedev IN.   +8 more
europepmc   +1 more source

Genome-Wide Association Study to Identify Genetic Variants Associated With Diabetic Maculopathy. [PDF]

Invest Ophthalmol Vis Sci
Gurung RL, Nangia C, Cai T, FitzGerald LM, McComish BJ, Liu E, Kaidonis G, Ridge B, Hewitt AW, Vote B, Verma N, Craig JE, Palmer CNA, Burdon KP, Meng W.   +14 more
europepmc   +1 more source

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Genetic disorders and genetic variants

Clinical Ophthalmic Genetics and Genomics, 2022
Sofia Douzgou Houge, G. Black, P. Sergouniotis   +2 more
semanticscholar   +1 more source