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Identification of a variant associated with adult-type hypolactasia
A DNA variant, C/T−13910, completely associates with biochemically verified lactase non-persistence in Finnish families and a sample set of 236 individuals from four different populations, indicating that it is very old.
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
The identification of a novel 421 kb de novo SHANK2 deletion in a patient with autism strengthens the role of synaptic gene dysfunction in ASD but also highlights the presence of putative modifier genes, in keeping with the “multiple hit model” for ASD.
A genetic test which can be used to diagnose adult-type hypolactasia in children
Genetic test of C/T-13910 polymorphism can be used as a first stage screening test for adult-type hypolactasia during childhood and was associated with very low lactase activity in the majority of children tested at 8 years of age and in every child older than 12 years ofAge.
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.
To identify genetic loci for autism-spectrum disorders, we have performed a two-stage genomewide scan in 38 Finnish families. The detailed clinical examination of all family members revealed
Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans.
The data about global allelic haplotypes of the lactose-tolerance variant imply that the T(-13910) allele has been independently introduced more than once and that there is a still-ongoing process of convergent evolution of the LP alleles in humans.
Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous.
PURPOSE One third of families with classical adenomatous polyposis (FAP), and a majority of those with attenuated FAP (AFAP), remain APC mutation-negative by conventional methods. Our purpose was to
Y402H Polymorphism of Complement Factor H Affects Binding Affinity to C-Reactive Protein1
It is proposed that the reduced binding of FH402H to CRP could lead to an impaired targeting of Fh to cellular debris and a reduction in debris clearance and enhanced inflammation along the macular retinal pigmented epithelium-choroid interface in individuals with age-related macular degeneration.
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
The childhood neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and the
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.
Results provide evidence that Batten disease can be classified as a member of lysosomal diseases and biosynthesis and localization of CLN3 protein are elucidated.
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs).
The novel spectrofluorometric assay introduced in this study provides a fast and repeatable technique to measure intralysosomal pH from cell suspensions and is one important factor in explaining accumulation of ceroid and lipofuscin-like autofluorescent lipopigments characteristic of NCLs.