Results 301 to 310 of about 17,080,653 (424)

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Reproductive aging, preimplantation genetic testing for aneuploidy, and the diameter of blastocysts: does size matter? [PDF]

Aging (Albany NY)
Wyroba J, Kochan J, Barszcz M, Mirocki G, Kordowitzki P.   +4 more
europepmc   +1 more source

Genetic Testing for Breast Cancer Predisposition in 1999: Which Molecular Strategy and which Family Criteria? [PDF]

, 1999
Dominique Stoppa‐Lyonnet, Maria A. Caligo, Diana Eccles, D. Gareth Evans, N. E. Haites, N. S. Hodgson, Pål Møller, P. J. Morrison, C. M. Steel, Hans F. A. Vasen, Jenny C. Chang   +10 more
openalex   +1 more source

The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

Molecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair, Philip König, Milena Mijović, Jessica Kalla, Anil Baskan, Loan Tran, Kristina Draganić, Pedro Morata Saldaña, Carlos Uziel Pérez Malla, Janette Pfneissl, Andreas Tiefenbacher, Julijan Kabiljo, Velina S. Atanasova, Lisa Wozelka‐Oltjan, Leonhard Müllauer, Michael Bergmann, Raheleh Sheibani‐Tezerji, Gerda Egger   +17 more
wiley   +1 more source

MTHFR genetic testing: is there a clinical utility? [PDF]

Rev Assoc Med Bras (1992)
Planello AC, Villela D, Loureiro T.
europepmc   +1 more source

A large‐scale retrospective study in metastatic breast cancer patients using circulating tumour DNA and machine learning to predict treatment outcome and progression‐free survival

Molecular Oncology, EarlyView.
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes, Mario Ortega Duran, Solon Karapanagiotis, Alistair Martin, Meiling Gao, Riccardo Masina, Ramona Woitek, James Tanner, Fleur Tippin, Justine Kane, Jonathan Lay, Anja Brouwer, Stephen‐John Sammut, Suet‐Feung Chin, Davina Gale, Dana W. Y. Tsui, Sarah‐Jane Dawson, Nitzan Rosenfeld, Maurizio Callari, Oscar M. Rueda, Carlos Caldas   +20 more
wiley   +1 more source

For early diagnosis of young patients with Werner syndrome: Indication for genetic testing. [PDF]

Geriatr Gerontol Int
Sato T, Maezawa Y, Kato H, Shoji M, Maeda Y, Kaneko H, Aono K, Kubota Y, Taniguchi T, Oshitari T, Motegi SI, Takami Y, Nakagami H, Taniguchi A, Watanabe K, Takemoto M, Koshizaka M, Kosaki R, Matsuo M, Kaneko H, Ihara K, Oshima J, Yokote K, Japan Ministry of Health, Labor and Welfare Research Project for Intractable Diseases, Genetic Progeroid Syndrome Research Group.   +25 more
europepmc   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Early diagnosis of hereditary angioedema in children: genetic testing should be prioritized. [PDF]

Allergy Asthma Clin Immunol
Bocquet A, Pagnier A, Boccon-Gibod I, Defendi F, Dumestre-Perard C, Hardy G, Bouillet L.   +6 more
europepmc   +1 more source

Germline variants in CDKN2A wild‐type melanoma prone families

Molecular Oncology, EarlyView.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen, Marie Loeng, Amalie Lund Holth, Per E. Lønning, Jürgen Geisler, Stian Knappskog   +5 more
wiley   +1 more source