Results 91 to 100 of about 114,605 (302)

Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

Journal of Clinical Laboratory Analysis, EarlyView.
Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou, Ting Chen, Ying Huang, Huali Wang, Dahai He, Feng Wu, Yan Zhang, Lirui Kong   +7 more
wiley   +1 more source

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers

Movement Disorders, EarlyView.
Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay   +7 more
wiley   +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

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

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

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Speciation with gene flow

PLANTS, PEOPLE, PLANET, EarlyView.
Biodiversity is threatened by human activities, with extinction debt accumulating rapidly. Many of these activities change the connectivity of populations, fragmenting existing population systems or bringing previously isolated populations or species into contact.
Zhiqin Long, Xu Zhang, Yue Yu, Gregory L. Owens, Diana J. Rennison, Clarisse Palma‐Silva, Daniel Ortiz‐Barrientos, Loren H. Rieseberg   +7 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

Fitness costs associated with Vip3Aa resistance on various hosts in Helicoverpa zea

Pest Management Science, EarlyView.
Significant fitness costs associated with Vip3Aa resistance in H. zea were observed across three non‐Bt hosts. Abundant non‐Bt refuges could help limit the spread of Vip3Aa resistance in H. zea in the field. Abstract BACKGROUND Transgenic crops containing Bacillus thuringiensis (Bt) proteins are crucial for managing major agricultural pests such as the
Haley Kennedy, David L Kerns, Graham P Head, Fei Yang   +3 more
wiley   +1 more source

Distribution and frequency of Vkorc1 polymorphisms in house mice and Norway rats in the northeastern United States

Pest Management Science, EarlyView.
This study assesses the distribution and frequency of Vkorc1 polymorphisms in house mice and Norway rats in northeastern USA. House mice showed higher frequency of Vkorc1 mutations than Norway rats. The A32V and Y139F mutations are first reported in mice, and the L128V is newly reported in Norway rats.
Jin‐Jia Yu, Alvaro Toledo, Adrienne E Kasprowicz, Megan V Phifer‐Rixey, Xiaodan Pan, Babatunji Daramola, Changlu Wang   +6 more
wiley   +1 more source