Results 51 to 60 of about 372,458 (325)

Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition [PDF]

, 2016
Perforin, a pore-forming toxin released from secretory granules of NK cells and CTLs, is essential for their cytotoxic activity against infected or cancerous target cells.
Chaudhry, MS, Gilmour, KC, House, IG, Layton, M, Panoskaltsis, N, Sohal, M, Trapani, JA, Voskoboinik, I   +7 more
core   +1 more source

Immunohistochemical Expression of p53 Gene and Clinicopathological Assessment of Low-grade Serous Ovarian Cancer and High-grade Serous Ovarian Cancer: A Cohort Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Ovarian cancer is a significant global health concern for women. More than 85-90% of ovarian cancer cases originates from epithelial causes. Dysfunctional p53 is a hallmark of many cancers, including ovarian cancer.
Geeta Bazard, Minakshi Vashist, Sunita Singh, Gulshan Rohilla, Nidhi Paliwal   +4 more
doaj   +1 more source

Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women

Frontiers in Genetics, 2022
Sequencing technologies can inform individuals’ risks for multiple conditions, supporting population-level screening approaches. Prior research examining interest in genetic testing has not generally examined the context of population-based approaches ...
Kimberly A. Kaphingst, Kimberly A. Kaphingst, Jemar R. Bather, Brianne M. Daly, Daniel Chavez-Yenter, Daniel Chavez-Yenter, Alexis Vega, Wendy K. Kohlmann   +7 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Behavioural Genetics in Criminal Cases: Past, Present and Future [PDF]

, 2006
Researchers studying human behavioral genetics have made significant scientific progress in enhancing our understanding of the relative contributions of genetics and the environment in observed variations in human behavior. Quickly outpacing the advances
Bernet, William, Farahany, Nita A.
core   +1 more source

Diabetes mellitus and ischemic heart disease. the role of ion channels [PDF]

, 2018
Diabetes mellitus is one the strongest risk factors for cardiovascular disease and, in particular, for ischemic heart disease (IHD). The pathophysiology of myocardial ischemia in diabetic patients is complex and not fully understood: some diabetic ...
De Marchis, Marialaura, D’Amato, Andrea, Fedele, Francesco, Mancone, Massimo, Netti, Lucrezia, Palmirotta, Raffaele, Pucci, Mariateresa, Severino, Paolo, Volterrani, Maurizio   +8 more
core   +2 more sources

Hematopoietic (stem) cells—The elixir of life?

FEBS Letters, EarlyView.
The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo, Jonah Anderson, Emilie Dinh Vedrenne, Noël Yeh Martín, Jette Lengefeld   +4 more
wiley   +1 more source

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

Molecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici, Soheil Akbari, Ceyda Caliskan, Canan Celiker, Ozden Oz, Leman Binokay, Gökhan Karakulah, Serif Senturk, Esra Erdal   +8 more
wiley   +1 more source

Interactions of physical activity, muscular fitness, adiposity, and genetic risk for NAFLD

Hepatology Communications, 2022
Genetic predisposition and unhealthy lifestyle are risk factors for nonalcoholic fatty liver disease (NAFLD). We investigated whether the genetic risk of NAFLD is modified by physical activity, muscular fitness, and/or adiposity.
Theresia M. Schnurr, Sophia Figueroa Katz, Johanne M. Justesen, Jack W. O’Sullivan, Peter Saliba‐Gustafsson, Themistocles L. Assimes, Ivan Carcamo‐Orive, Aijaz Ahmed, Euan A. Ashley, Torben Hansen, Joshua W. Knowles   +10 more
doaj   +1 more source

Are Genetics Involved in the Development of Multisystem Inflammatory Syndromes in Children?

Trends in Pediatrics, 2022
The relationship between Multisystem Inflammatory Syndrome in Children (MIS-C) and genetic predisposition is not well established. The aim of this article emphasize the presence of genetic predisposition in MIS-C by presenting two sibling cases from two
Sevcan Ipek, Ufuk Utku Güllü
doaj   +1 more source