Search results for "Loin"
showing 10 items of 294 documents
Juveniilihormonin vaikutus munantuotantoon ja seksuaaliseen antagonismiin koloradonkuoriaisilla
2012
Hormonitoiminta on yksi eliöiden säätelyjärjestelmistä. Hyönteisillä keskeisessä osassa hormonisäätelyä ovat juveniilihormonit (JH). Niiden määrä yksilöiden elimistössä säätelee monia asioita yksilöiden kehityksestä lisääntymistoimintoihin. Juuri tehokas lisääntyminen onkin eliöiden tärkeimpiä tehtäviä. Hormonitoiminta pitää yllä evoluution myötä eri lajeille ja lajiryhmille kehittyneitä erilaisia lisääntymisstrategioita: jotkin lisääntyvät harvakseltaan mutta huolehtivat poikasistaan, toiset tuottavat paljon jälkeläisiä, jotka ne jättävät selviämään yksin. Sukupuolten välillä on kuitenkin eroja optimaalisessa lisääntymisstrategiassa. Naaraat joutuvat kuluttamaan jälkeläisten tuottamiseen k…
Malliavin smoothness on the Lévy space with Hölder continuous or BV functionals
2020
We consider Malliavin smoothness of random variables f(X1), where X is a purejump Lévy process and the functionfis either bounded and Hölder continuousor of bounded variation. We show that Malliavin differentiability and fractional differentiability off (X1) depend both on the regularity offand the Blumenthal-Getoor index of the Lévy measure. peerReviewed
Spatiaalisen ikkunoinnin ja sokean signaalinerottelun menetelmien hyödyntäminen MEG-aineiston analysoinnissa
2018
Sokean signaalinerottelun menetelmät ovat käyttökelpoisia magnetoenkefalografilla mitattujen aivomagneettikäyrien analysoinnissa. Sokean signaalinerottelun menetelmien avulla voidaan selvittää, mistä aivoaktivaatio on peräisin ja millaisiin toimintoihin aktivaatio voidaan yhdistää. MEG-aineiston ajallinen tarkkuus on hyvä, joten lyhytkin mittausaika tuottaa hyvin suuren aineiston. Suuren aineiston tuottamat laskennalliset ongelmat voidaan kiertää ikkunoimalla MEG-aineisto aika- tai tilasuunnassa. Aineiston ikkunointia on sovellettu aiemmissa tutkimuksissa toiminnallisen magneettikuvauksen aineistoon, jolloin ikkunointi on tehty aikasuunnassa. Tässä tutkielmassa ikkunointia sovellettiin MEG-…
Deletion of 11q in Neuroblastomas Drives Sensitivity to PARP Inhibition
2017
AbstractPurpose: Despite advances in multimodal therapy, neuroblastomas with hemizygous deletion in chromosome 11q (20%–30%) undergo consecutive recurrences with poor outcome. We hypothesized that patients with 11q-loss may share a druggable molecular target(s) that can be exploited for a precision medicine strategy to improve treatment outcome.Experimental Design: SNP arrays were combined with next-generation sequencing (NGS) to precisely define the deleted region in 17 primary 11q-loss neuroblastomas and identify allelic variants in genes relevant for neuroblastoma etiology. We assessed PARP inhibitor olaparib in combination with other chemotherapy medications using both in vitro and in v…
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
2021
International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
2018
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations c…
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation
2006
International audience; Objective: Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation. Method: The authors performed the physical mapping of the balanced 9q23/ 10q22 translocation by fluorescent in situ hybridization experiments using bacterial artificial chromosom…
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
2012
Background DYRK1A plays different functions during development, with an important role in controlling brain growth through neuronal proliferation and neurogenesis. It is expressed in a gene dosage dependent manner since dyrk1a haploinsufficiency induces a reduced brain size in mice, and DYRK1A overexpression is the candidate gene for intellectual disability (ID) and microcephaly in Down syndrome. We have identified a 69 kb deletion including the 5′ region of the DYRK1A gene in a patient with growth retardation, primary microcephaly, facial dysmorphism, seizures, ataxic gait, absent speech and ID. Because four patients previously reported with intragenic DYRK1A rearrangements or 21q22 microd…
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
1998
DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. The critical DGS2 region is defined by two DGS patients, and maps within a 1 cM interval including D10S547 and D10S585. The other seven DGS patients are hemizygous for both loci. The breakpoint of the reciprocal translocation 10p;14q maps at a dist…
Comparing MEG and EEG in detecting the ~20-Hz rhythm modulation to tactile and proprioceptive stimulation
2020
Abstract Modulation of the ~20-Hz brain rhythm has been used to evaluate the functional state of the sensorimotor cortex both in healthy subjects and patients, such as stroke patients. The ~20-Hz brain rhythm can be detected by both magnetoencephalography (MEG) and electroencephalography (EEG), but the comparability of these methods has not been evaluated. Here, we compare these two methods in the evaluating of ~20-Hz activity modulation to somatosensory stimuli. Rhythmic ~20-Hz activity during separate tactile and proprioceptive stimulation of the right and left index finger was recorded simultaneously with MEG and EEG in twenty-four healthy participants. Both tactile and proprioceptive st…