Results 31 to 40 of about 944,231 (329)
Revealing the molecular signatures of host-pathogen interactions. [PDF]
, 2011 Advances in sequencing technology and genome-wide association studies are now revealing the complex interactions between hosts and pathogen through genomic variation signatures, which arise from evolutionary co ...
C Herdtweck +53 more
core +13 more sources
Zebrafish Models of Autosomal Dominant Ataxias
Cells, 2021 Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination.
Ana Quelle-Regaldie +4 more
doaj +1 more source
Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion [PDF]
, 1998 Linkage disequilibrium has been a powerful tool in identifying rare disease alleles in human populations. To date, most research has been directed to isolated populations which have undergone a bottleneck followed by rapid exponential expansion.
Laan, Maris +3 more
core +1 more source
Rapid Genetic Analysis of X-Linked Chronic Granulomatous Disease by High-Resolution Melting [PDF]
The Journal of Molecular Diagnostics, 2010 High-resolution melting analysis was applied to X-linked chronic granulomatous disease, a rare disorder resulting from mutations in CYBB. Melting curves of the 13 PCR products bracketing CYBB exons were predicted by Poland's algorithm and compared with observed curves from 96 normal individuals.
Harry R, Hill +12 more
openaire +2 more sources
Computational and Structural Biotechnology Journal, 2020 ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders.
Aditi Mhaske +7 more
doaj +1 more source
Genes and Diseases, 2022 Sexual dimorphism has been reported in various human diseases including autoimmune diseases, neurological diseases, pulmonary arterial hypertension, and some types of cancers, although the underlying mechanisms remain poorly understood.
Jianjian Li +5 more
doaj +1 more source
PAK in Alzheimer disease, Huntington disease and X-linked mental retardation. [PDF]
, 2012 Developmental cognitive deficits including X-linked mental retardation (XLMR) can be caused by mutations in P21-activated kinase 3 (PAK3) that disrupt actin dynamics in dendritic spines.
Cole, Greg M +3 more
core +1 more source
An integrated molecular and conventional breeding scheme for enhancing genetic gain in maize in Africa [PDF]
, 2020 Open Access Journal; Published online: 06 Nov 2019Maize production in West and Central Africa (WCA) is constrained by a wide range of interacting stresses that keep productivity below potential yields.
Gedil, M., Menkir, A.
core +1 more source
Stem Cell Research, 2021 Klinefelter Syndrome (KS) is the most common X chromosome aneuploidy in males characterized by highly heterogeneous clinical manifestations including a subtle cognitive impairment and multisystemic disorders such as infertility, metabolic syndrome ...
Elisabetta Fiacco +3 more
doaj +1 more source
Haematologica, 2007 All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c.
Melinda Erdos +2 more
doaj +1 more source