Search results for "Variants"

Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments.

2022

AbstractBackgroundA recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. Using ADHD samples from several international sites, we derived PRS for ADHD from the recent GWAS to test whether genetic variants that contribute to ADHD also influence two cognitive functions that show strong association with ADHD: attention regulation and response inhibition, captured by reaction time variability (RTV) and commission errors (CE).MethodsThe discovery GWAS included 19 099 ADHD cases …

Functional Assessment of Variants in the TSC1 and TSC2 Genes Identified in Individuals with Tuberous Sclerosis Complex

2011

The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One option is to perform functional tests to assess whether the variants affect protein function. We have used this strategy to characterize variants identified in the TSC1 and TSC2 genes in individuals with, or suspected of having, Tuberous Sclerosis Complex (TSC). Here we present an overview of our functional studies on 45 TSC1 and 107 TSC2 variants. Using a standardized protocol we classified 16 TSC1 variants and 70 TSC2 variants as pathogenic. In add…

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…

Defining relations of minimal degree of the trace algebra of 3 X 3 matrices

2008

The trace algebra Cnd over a field of characteristic 0 is generated by all traces of products of d generic n × n matrices, n, d 2. Minimal sets of generators of Cnd are known for n = 2 and n = 3 for any d as well as for n = 4 and n = 5 and d = 2. The defining relations between the generators are found for n = 2 and any d and for n = 3, d = 2 only. Starting with the generating set of C3d given by Abeasis and Pittaluga in 1989, we have shown that the minimal degree of the set of defining relations of C3d is equal to 7 for any d 3. We have determined all relations of minimal degree. For d = 3 we have also found the defining relations of degree 8. The proofs are based on methods of representati…

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consorti…

2016

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7–15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with i…

Vientulības kalns

1964

Slavic Loanwords in the Terms for Dumplings in Latvian

2016

Slavic Loanwords in the Terms for Dumplings in Latvian Food is an essential part of the material culture of every nation. It frequently preserves national traditions and old names longer than other spheres do, additionally, it lets observe the influence of other cultures. According to dictionary data, dumplings were known in Latvia already in the 18th century. Many names for them have been attested in regional subdialects of Latvian; borrowings usually cover wide areas. In this article, basing on ethnographic and linguistic material notations of different antiquity thus tracing the use of names for dumplings almost a century long and referring to dictionary data from 18th–19th century, the …

Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly

2018

Microcephaly is a devastating condition defined by a small head and small brain compared to the age- and sex-matched population. Mutations in a number of different genes causative for microcephaly have been identified, e.g., MCPH1, WDR62, and ASPM. Recently, mutations in the gene encoding the enzyme asparagine synthetase (ASNS) were associated to microcephaly and so far 24 different mutations in ASNS causing microcephaly have been described. In a family with two affected girls, we identified novel compound heterozygous variants in ASNS (c.1165G > C, p.E389Q and c.601delA, p.M201Wfs∗28). The first mutation (E389Q) is a missense mutation resulting in the replacement of a glutamate residue …

The application of genetics approaches to the study of exceptional longevity in humans: Potential and limitations

2012

Abstract The average life-span of the population of industrialized countries has improved enormously over the last decades. Despite evidence pointing to the role of food intake in modulating life-span, exceptional longevity is still considered primarily an inheritable trait, as pointed out by the description of families with centenarian clusters and by the elevated relative probability of siblings of centenarians to become centenarians themselves. However, rather than being two separate concepts, the genetic origin of exceptional longevity and the more recently observed environment-driven increase in the average age of the population could possibly be explained by the same genetic variants …

Voisinages tubulaires épointés et homotopie stable à l'infini

2022

We initiate a study of punctured tubular neighborhoods and homotopy theory at infinity in motivic settings. We use the six functors formalism to give an intrinsic definition of the stable motivic homotopy type at infinity of an algebraic variety. Our main computational tools include cdh-descent for normal crossing divisors, Euler classes, Gysin maps, and homotopy purity. Under-adic realization, the motive at infinity recovers a formula for vanishing cycles due to Rapoport-Zink; similar results hold for Steenbrink's limiting Hodge structures and Wildeshaus' boundary motives. Under the topological Betti realization, the stable motivic homotopy type at infinity of an algebraic variety recovers…