Results 21 to 30 of about 884,084 (316)

Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs

eLife, 2023
Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are enriched in 'mutation intolerant' genes. We show how such observations can be interpreted in light of a model of mutation-selection balance and use the model to relate ...
Ipsita Agarwal, Zachary L Fuller, Simon R Myers, Molly Przeworski   +3 more
doaj   +1 more source

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages

Frontiers in Genetics, 2022
Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza, Nina Pereza, Rifet Terzić, Dijana Plaseska-Karanfilska, Olivera Miljanović, Olivera Miljanović, Ivana Novaković, Željka Poslon, Željka Poslon, Saša Ostojić, Saša Ostojić, Borut Peterlin   +11 more
doaj   +1 more source

A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes

Frontiers in Cardiovascular Medicine, 2021
Congenital heart disease (CHD) is the most common type of birth defect, affecting ~1% of all live births. Malformations of the cardiac outflow tract (OFT) account for ~30% of all CHD and include a range of CHDs from bicuspid aortic valve (BAV) to ...
Adrianna Matos-Nieves, Sathiyanarayanan Manivannan, Uddalak Majumdar, Kim L. McBride, Kim L. McBride, Peter White, Peter White, Vidu Garg, Vidu Garg, Vidu Garg   +9 more
doaj   +1 more source

Genetics of human obesity [PDF]

Comptes Rendus. Biologies, 2005
We present the knowledge acquired in the field of the genetics of human obesity. The molecular approach proved to be powerful to define new syndromes associated to obesity. The pivotal role of leptin and melanocortin pathways were recognized but in rare obesity cases.
openaire   +4 more sources

Genetics of human hydrocephalus [PDF]

Journal of Neurology, 2006
Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired.
Zhang, Jun, Williams, Michael A., Rigamonti, Daniele   +2 more
openaire   +2 more sources

Staphylococcus aureus adaptive evolution: Recent insights on how immune evasion, immunometabolic subversion and host genetics impact vaccine development

Frontiers in Cellular and Infection Microbiology, 2022
Despite meritorious attempts, a S. aureus vaccine that prevents infection or mitigates severity has not yet achieved efficacy endpoints in prospective, randomized clinical trials. This experience underscores the complexity of host-S. aureus interactions,
Tania Wong Fok Lung, Liana C. Chan, Liana C. Chan, Liana C. Chan, Alice Prince, Michael R. Yeaman, Michael R. Yeaman, Michael R. Yeaman, Nathan K. Archer, M. Javad Aman, Richard A. Proctor   +10 more
doaj   +1 more source

Y chromosome damage underlies testicular abnormalities in ATR-X syndrome

iScience
Summary: ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes with few seminiferous tubules. Our mouse model recapitulated the testicular defects when
Nayla Y. León, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong, Stefan Bagheri-Fam, Vincent R. Harley   +5 more
doaj   +1 more source

Human and molecular genetics shed lights on fatty liver disease and diabetes conundrum

Endocrinology, Diabetes & Metabolism, 2020
The causal role of abdominal overweight/obesity, insulin resistance and type 2 diabetes (T2D) on the risk of fatty liver disease (FLD) has robustly been proven.
Federica Tavaglione, Giovanni Targher, Luca Valenti, Stefano Romeo   +3 more
doaj   +1 more source

Tinea Imbricata among the Indigenous Communities: Current Global Epidemiology and Research Gaps Associated with Host Genetics and Skin Microbiota

Journal of Fungi, 2022
Tinea imbricata is a unique fungal skin disease that mostly affects indigenous populations in Southeast Asia, Oceania, and Central and South America. The control and management of this disease among these communities are challenging given their remote ...
Yi Xian Er, Soo Ching Lee, Leslie Thian-Lung Than, Azdayanti Muslim, Kin Fon Leong, Zhenli Kwan, Izandis Mohd Sayed, Yvonne Ai-Lian Lim   +7 more
doaj   +1 more source

Community genetics. Its definition 2010

, 2010
This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the ...
Kate, L.P. ten, Hamamy, H., Arnold Christianson, Ulf Kristoffersson, Lihadh Al-Gazali, Rahman, P., Jean-Jacques Cassiman, Marais, A.D., Kate, L.P., Proton Rahman, Kristoffersson, U., Victor B. Penchaszadeh, Bittles, A., Cornel, M.C., ten Kate, L.P., Kääriäinen, H., Cassiman, J.J., Christianson, A., Hanan Hamamy, Al-Gazali, L., Schmidtke, J., David Marais, Leo P. ten Kate, Jörg Schmidtke, Helena Kääriäinen, Martina C. Cornel, Anand, S., Penchaszadeh, V.B., Alan Bittles, Sonia Anand, Marais, D., Cassiman, J-J, Leo P. ten Kate   +32 more
core   +1 more source