Results 1 to 10 of about 353,849 (343)

Genetics of melanoma predisposition [PDF]

Oncogene, 2003
Predisposition to melanoma is genetically heterogeneous. Two high penetrance susceptibility genes, CDKN2A and CDK4, have so far been identified and mapping is ongoing to localize and identify others. With the advent of a catalogue of millions of potential DNA polymorphisms, attention is now also being focused on identification of genes that confer a ...
openaire   +4 more sources

Smoking during pregnancy is associated with child overweight independent of maternal pre-pregnancy BMI and genetic predisposition to adiposity

Scientific Reports, 2022
High maternal body mass index (BMI) and smoking during pregnancy are risk factors for child overweight. Maternal smoking tends to reduce her BMI and the association of smoking with child overweight may be confounded by or interacting with maternal ...
Theresia M. Schnurr, Lars Ängquist, Ellen Aagaard Nøhr, Torben Hansen, Thorkild I. A. Sørensen, Camilla S. Morgen   +5 more
doaj   +1 more source

Thrombophilia Testing: from Genetic Predisposition to Discrimination [PDF]

TH Open
Andreas Verstraete, Kathleen Freson, Peter Verhamme, Thomas Vanassche   +3 more
doaj   +2 more sources

Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing

Scientific Reports, 2023
Genetic predisposition is an important risk factor for cancer in children and adolescents but detailed associations of individual genetic mutations to childhood cancer are still under intense investigation.
Piedad Alba-Pavón, Lide Alaña, Miriam Gutierrez-Jimeno, Susana García-Obregón, Teresa Imízcoz, Elena Panizo, Paula González-Urdiales, Aizpea Echebarria-Barona, Ricardo Lopez Almaraz, Laura Zaldumbide, Itziar Astigarraga, Ana Patiño-García, Olatz Villate   +12 more
doaj   +1 more source

Genetic Predisposition to Primary Lactose Intolerance Does Not Influence Dairy Intake and Health-Related Quality of Life in Romanian Children: A Hospital-Based Cross-Sectional Study

Children, 2023
Background: Primary lactose intolerance (PLI) is characterized by the inability to digest lactose. Homozygotes for the lactase gene polymorphisms (CC or GG) are considered to be genetically predisposed to PLI. Still, symptoms may only be present later in
Corina Pienar, Liviu Pop, Marilena Lăzărescu, Radmila Costăchescu, Mirela Mogoi, Ruxandra Mare, Edward Șeclăman   +6 more
doaj   +1 more source

Leveraging eQTLs to identify individual-level tissue of interest for a complex trait.

PLoS Computational Biology, 2021
Genetic predisposition for complex traits often acts through multiple tissues at different time points during development. As a simple example, the genetic predisposition for obesity could be manifested either through inherited variants that control ...
Arunabha Majumdar, Claudia Giambartolomei, Claudia Giambartolomei, Na Cai, Tanushree Haldar, Tommer Schwarz, Michael Gandal, Jonathan Flint, Bogdan Pasaniuc   +8 more
doaj   +1 more source

Genetic predisposition in pediatric oncology

Medicine and Pharmacy Reports, 2020
Identifying patients with a genetic predisposition for developing malignant tumors has a significant impact on both the patient and family. Recognition of genetic predisposition, before diagnosing a malignant pathology, may lead to early diagnosis of a neoplasia.
Emilia Mihut, Diana Olteanu, Rodica Cosnarovici, Viorica Nagy, Doina Paula Pruteanu   +4 more
openaire   +3 more sources

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children’s Oncology Group AREN18B5-Q

Nature Communications, 2023
Developing synchronous bilateral Wilms tumor suggests an underlying (epi)genetic predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or genome sequencing (n = 85 tumors from 61 patients with matched germline blood DNA),
Andrew J. Murphy, Changde Cheng, Justin Williams, Timothy I. Shaw, Emilia M. Pinto, Karissa Dieseldorff-Jones, Jack Brzezinski, Lindsay A. Renfro, Brett Tornwall, Vicki Huff, Andrew L. Hong, Elizabeth A. Mullen, Brian Crompton, Jeffrey S. Dome, Conrad V. Fernandez, James I. Geller, Peter F. Ehrlich, Heather Mulder, Ninad Oak, Jamie Maciezsek, Carolyn M. Jablonowski, Andrew M. Fleming, Prahalathan Pichavaram, Christopher L. Morton, John Easton, Kim E. Nichols, Michael R. Clay, Teresa Santiago, Jinghui Zhang, Jun Yang, Gerard P. Zambetti, Zhaoming Wang, Andrew M. Davidoff, Xiang Chen   +33 more
doaj   +1 more source

Genetic Predisposition to Recurrent Aphthous Stomatitis

Česká Stomatologie a Praktické Zubní Lékařství, 2017
Background: Recurrent aphthous stomatitis (RAS), one of the most common diseases of the oral mucosa, is characterized by the formation of painful oral erosions or even ulcers.
P. Bořilová Linhartová, S. Valová, L. Izakovičová Hollá   +2 more
doaj   +1 more source

Genetic predisposition in nonalcoholic fatty liver disease [PDF]

Clinical and Molecular Hepatology, 2017
Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease whose prevalence has reached global epidemic proportions. Although the disease is relatively benign in the early stages, when severe clinical forms, including nonalcoholic ...
Silvia Sookoian, Carlos J. Pirola
doaj   +1 more source