Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders [PDF]
, 2004 Background Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births.
A Lernmark +57 more
core +2 more sources
WNT10B: A locus increasing risk of brachygnathia inferior in Brown Swiss cattle
Journal of Dairy Science, 2023 : Shortening of the mandible (brachygnathia inferior) is a congenital, often inherited and variably expressed craniofacial anomaly in domestic animals including cattle.
Sarah Widmer +5 more
doaj +1 more source
Frontiers in Veterinary Science, 2022 Genetic diversity has become an urgent matter not only in small local breeds but also in more specialized ones. While the use of genomic data in livestock breeding programs increased genetic gain, there is increasing evidence that this benefit may be ...
Michela Ablondi +7 more
doaj +1 more source
Common Genetic Variant Association with Altered HLA Expression, Synergy with Pyrethroid Exposure, and Risk for Parkinson's Disease: An Observational and Case-Control Study. [PDF]
, 2015 Background/objectivesThe common non-coding single nucleotide polymorphism (SNP) rs3129882 in HLA-DRA is associated with risk for idiopathic Parkinson's disease (PD).
Boss, JM +11 more
core +2 more sources
The transcriptome of the invasive eel swimbladder nematode parasite Anguillicola crassus [PDF]
, 2013 BACKGROUND: Anguillicola crassus is an economically and ecologically important parasitic nematode of eels. The native range of A. crassus is in East Asia, where it infects Anguilla japonica, the Japanese eel. A. crassus was introduced into European eels,
Blaxter, Mark +4 more
core +2 more sources
Genomic scans for selection and runs of homozygosity in southern Italian turkey populations
Poultry ScienceBasilicata and Apulian (BAS-APU) turkeys, a native population in the Basilicata and Puglia regions of southern Italy, are known for their high meat quality and tolerance to local conditions.
Medhat S. Saleh +9 more
doaj +1 more source
Telomere length reveals cumulative individual and transgenerational inbreeding effects in a passerine bird [PDF]
, 2016 Inbreeding results in more homozygous offspring that should suffer reduced fitness, but it can be difficult to quantify these costs for several reasons. First, inbreeding depression may vary with ecological or physiological stress and only be detectable ...
Alho +77 more
core +4 more sources
Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations [PDF]
Human Heredity, 2016 <b><i>Objectives:</i></b> Recent studies have highlighted the potential of analyses of genomic sharing to produce insight into the demographic processes affecting human populations. We study runs of homozygosity (ROH) in 18 Jewish populations, examining these groups in relation to 123 non-Jewish populations sampled worldwide ...
Jonathan T L, Kang +4 more
openaire +2 more sources
Organoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source
Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia [PDF]
Proceedings of the National Academy of Sciences, 2007 Evolutionarily significant selective sweeps may result in long stretches of homozygous polymorphisms in individuals from outbred populations. We developed whole-genome homozygosity association (WGHA) methodology to characterize this phenomenon in healthy individuals and to use this genomic feature to identify genetic risk loci for ...
Lencz, Todd +7 more
openaire +3 more sources