Results 91 to 100 of about 78,400 (304)

Association between α-thalassemia heterozygote (_α/αα) and Hemoglobin AS including interaction terms.

, 2018
Association between α-thalassemia heterozygote (_α/αα) and Hemoglobin AS including interaction terms.
Grace Ndeezi (491009), Charles Karamagi (351710), Anne Katahoire (410306), Victor Asua (5754053), Philip J. Rosenthal (47478), Stephen Tukwasibwe (5754050), Andrew Walakira (454001), Samuel L. Nsobya (5754047), Arthur Mpimbaza (51374)   +8 more
core   +1 more source

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

Developmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

Penetrance interactions of colour pattern loci in the African Monarch and their implications for the evolution of dominance

Ecology and Evolution
Scoring the penetrance of heterozygotes in complex phenotypes, like colour pattern, is difficult and complicates the analysis of systems in which dominance is incomplete or evolving.
Richard H. ffrench‐Constant, Jonathan Bennie, Ian J. Gordon, Lorna Depew, David A. S. Smith   +4 more
doaj   +1 more source

CLINICAL CASE OF THE YOUNG PATIENT WITH ISCHEMIC STROKE AND GENETICALLY CAUSED THROMBOPHILIC PREDISPOSITION

Инновационная медицина Кубани, 2019
We present a clinical case of an ischemic stroke in a young man, 37 years in the setting of severe cardiac pathology (coronary heart disease, repeated myocardial infarctions with a cardiomyopathy and progressing chronic heart failure).
Yu. A. Bursa, L. V. Timchenko, M. V. Kolodina   +2 more
doaj   +2 more sources

Genotyping of mannose-binding lectin (MBL2) codon 54 and promoter alleles in Egyptian infants with acute respiratory tract infections

Egyptian Journal of Medical Human Genetics, 2014
Background: MBL2 gene polymorphisms affect serum concentration of mannose-binding lectin and are associated with infectious conditions. Acute respiratory tract infections are among the most prevalent infections in childhood with the highest incidence ...
Rabah M. Shawky, Sherine M. Abd El-Fattah, Tarek M. Kamal, Mohammed A. Esa, Ghada H. El Nady   +4 more
doaj   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

The importance of gene polymorphism in familial inheritance of endometriosis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective The study aimed to investigate familial transmission patterns in women with endometriosis by generating a customized single‐nucleotide polymorphism (SNP) array. Methods Patients aged 18–45 who were diagnosed histopathologically with endometriosis were included in the study.
Hale Goksever Celik, Candan Eker, Berivan Guzelbag, Ercan Bastu, Tuba Gunel   +4 more
wiley   +1 more source

MHC allele frequency distributions under parasite-driven selection: A simulation model

BMC Evolutionary Biology, 2010
Background The extreme polymorphism that is observed in major histocompatibility complex (MHC) genes, which code for proteins involved in recognition of non-self oligopeptides, is thought to result from a pressure exerted by parasites because parasite ...
Radwan Jacek, Babik Wiesław, Ejsmond Maciej   +2 more
doaj   +1 more source

Reconceptualizing Aplastic Anemia—Seed, Worm, Soil

Journal of Clinical Laboratory Analysis, EarlyView.
Aplastic anemia (AA) encompasses a group of hematological syndromes often misdiagnosed, resulting in a decrease in the overall blood cell count and representing a form of bone marrow failure. We reinterpret AA based on the “seed, worm, and soil” doctrine.
Xintong Xu, Zining Wang, Jiaming Hu, Chunyan Liu, Rong Fu   +4 more
wiley   +1 more source

Dynamin-related protein 1 heterozygote knockout mice do not have synaptic and mitochondrial deficiencies

, 2012
The objective of this study was to elucidate the effect of partial reduction of the mitochondrial fission protein, dynamin-related protein 1 (Drp1) on mitochondrial activity and synaptic viability. Recent knockout studies of Drp1 revealed that homozygote
Manczak, Maria, Sesaki, Hiromi, Kageyama, Yusuke, Reddy, P. Hemachandra   +3 more
core   +1 more source