Results 41 to 50 of about 10,524,108 (363)

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

A comparative study of endoderm differentiation in humans and chimpanzees

Genome Biology, 2018
Background There is substantial interest in the evolutionary forces that shaped the regulatory framework in early human development. Progress in this area has been slow because it is difficult to obtain relevant biological samples.
Lauren E. Blake, Samantha M. Thomas, John D. Blischak, Chiaowen Joyce Hsiao, Claudia Chavarria, Marsha Myrthil, Yoav Gilad, Bryan J. Pavlovic   +7 more
doaj   +1 more source

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

Proteomic profiling of the plasma of Gambian children with cerebral malaria

Malaria Journal, 2018
Background Cerebral malaria (CM) is a severe neurological complication of Plasmodium falciparum infection. A number of pathological findings have been correlated with pediatric CM including sequestration, platelet accumulation, petechial haemorrhage and ...
Ehab M. Moussa, Honglei Huang, Marie L. Thézénas, Roman Fischer, Abhinay Ramaprasad, Fatou Sisay-Joof, Muminatou Jallow, Arnab Pain, Dominic Kwiatkowski, Benedikt M. Kessler, Climent Casals-Pascual   +10 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

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

Orphanet Journal of Rare Diseases, 2019
Background Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin.
F. Zafarghandi Motlagh, M. S. Fallah, H. Bagherian, T. Shirzadeh, S. Ghasri, S. Dabbagh, M. Jamali, Z. Salehi, M. Abiri, S. Zeinali   +9 more
doaj   +1 more source

Generation of Dual-Color FISH probes targeting 9p21, Xp21, and 17p13.1 loci as diagnostic markers for some genetic disorders and cancer in Egypt

Journal of Genetic Engineering and Biotechnology
Introduction: The fluorescence in situ hybridization (FISH) is a very important technique, as it can diagnose many genetic disorders and cancers. Molecular cytogenetic analysis (FISH) can diagnose numerical chromosome aberrations, sex chromosomes ...
Amal M. Mohamed, Maha Eid, Ola Eid, Shymaa H Hussein, Wael Mahmoud, Rana Mahrous, Khaled Refaat, Marwa Farid   +7 more
doaj   +1 more source

Human Genetics of Cardiomyopathies

, 2016
The identification of a disease-causing variant in a patient diagnosed with cardiomyopathy allows for presymptomatic testing in at risk relatives. Carriers of a pathogenic variant can subsequently be screened at intervals by a cardiologist to assess the risk for potentially life-threatening arrhythmias which can be life-saving.
Vermeer, Alexa M. C., Wilde, Arthur A. M., Christiaans, Imke   +2 more
openaire   +2 more sources

Are Fertility Preservation Procedures Before Gonadotoxic Therapy and Hematopoietic Stem Cell Transplantation Feasible and Safe in Very Young Children? A Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Fertility preservation (FP) is increasingly integrated into the care of pediatric patients exposed to gonadotoxic therapy or conditioning for hematopoietic stem cell transplantation (HSCT), yet perioperative data in infants and toddlers remain scarce.
Kerstin Saalabian, Yannick Braun, Till‐Martin Theilen, Anke Barnbrock, Theresa Rohm, Fabienne Hammant, Nicole Sänger, Aynura Abbasova‐Semiz, Jan‐Henning Klusmann, Thomas Klingebiel, Udo Rolle, Peter Bader, Henning C. Fiegel, Andrea Jarisch   +13 more
wiley   +1 more source