Results 91 to 100 of about 113,813 (285)

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

A role for kinesin heavy chain in controlling vesicle transport into dendrites in Drosophila. [PDF]

, 2011
The unique architecture of neurons requires the establishment and maintenance of polarity, which relies in part on microtubule-based transport to deliver essential cargo into dendrites.
Goldstein, Lawrence SB, Henthorn, Kristina Schimmelpfeng, Herrera, Cheryl, Roux, Meike Sabina   +3 more
core   +2 more sources

Hypersensitivity of BRCA1 heterozygote lymphoblastoid cells to gamma radiation and PARP inhibitors [PDF]

, 2013
This article is made available through the Brunel Open Access Publishing Fund. Copyright @ 2013 Bourton EC, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use ...
Bourton, EC, Foster, HA, Harvey, AJ, Parris, C, Plowman, PN   +4 more
core   +2 more sources

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

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

An Integrated Genotyping Strategy for α/β‐Thalassemia: Based on the Analysis of the Coding Sequences and Expression Levels of HBA2, HBA1, and HBB in Peripheral Blood mRNA

Journal of Clinical Laboratory Analysis, EarlyView.
We have developed an integrated mRNA‐based strategy for thalassemia genotyping. Its characteristics included using only three Sanger sequencing reactions to analyze the full‐length coding sequence of HBA2, HBA1 and HBB, and employing a new multiple quantitative fluorescence PCR to simply assess and present the impact of common mutations on the ...
Hongjian Chen, Qi Yao, Mianai Fu
wiley   +1 more source

Segregation distortion: high genetic load suggested by a Chinese shrimp family under high-intensity selection

Scientific Reports, 2020
Segregation distortion is a common phenomenon found in most genetic mapping studies and is an important resource to dissect the mechanism of action in gene loci that cause deviation.
Qiang Fu, Xianhong Meng, Sheng Luan, Baolong Chen, Jiawang Cao, Xupeng Li, Jie Kong   +6 more
doaj   +1 more source

Fractal Characterizations of MAX Statistical Distribution in Genetic Association Studies

, 2009
Two non-integer parameters are defined for MAX statistics, which are maxima of $d$ simpler test statistics. The first parameter, $d_{MAX}$, is the fractional number of tests, representing the equivalent numbers of independent tests in MAX.
Azzalini A., Heisenberg W., Mao J., Press W. H., Sham P., Sokal R. K., Thomas D. C., Weir B. S.   +7 more
core   +1 more source