Search results for " Variant"
showing 10 items of 231 documents
Le varianti d’autore in "Asterusher" di Michele Mari
2021
Nel 2019 Michele Mari pubblica una seconda edizione del fototesto Asterusher. Autobiografia per feticci, con l’aggiunta di sedici pagine. La riscrittura diventa innanzitutto una ricomposizione grafica e una nuova disposizione delle pagine, la cui sequenza si dimostra un ampliamento, grazie ad alcune necessarie integrazioni, oppure un’intensificazione di nuclei tematici, sviluppati soprattutto a partire dalle relazioni genitoriali che erano state al centro di Leggenda privata. Il contributo propone lo studio di alcune varianti d’autore e delle loro funzioni nell’archivio fototestuale autobiografico degli oggetti pregnanti di Michele Mari. In 2019 Michele Mari publishes a second edition of th…
Isolation of Abiotrophia adiacens from a brain abscess which developed in a patient after neurosurgery.
1999
ABSTRACT We report the case of a patient who developed a large brain abscess after neurosurgery. Cerebrospinal fluid from the abscess drainage yielded Abiotrophia adiacens -specific PCR products and microorganisms that were identified by conventional microbiological methods and by 16S ribosomal DNA analysis as Abiotrophia adiacens , which was formerly classified as a member of nutritionally variant streptococci.
Granulicatella spp., a Causative Agent of Infective Endocarditis in Children
2022
Granulicatella spp. are non-motile, non-sporulating, facultatively anaerobic Gram-positive cocci. Throughout the literature, these organisms have been referred to by several names, such as “nutritionally deficient streptococci”, “vitamin-B dependent streptococci” and “pyridoxal-dependent streptococci”, because of their fastidious nutritional requirements, which can often make culture isolation challenging. Known to be a member of the normal microbiota of the human oral cavity and urogenital and intestinal tracts, similar to other streptococci, Granulicatella spp. can cause bacteremia, sepsis and infective endocarditis. Considering the difficulty in growing this organism on culture medium, t…
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
2020
AbstractThis study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C > T (rs 1…
New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
2021
Ancient DNA (aDNA) studies are frequently focused on the analysis of the mitochondrial DNA (mtDNA), which is much more abundant than the nuclear genome, hence can be better retrieved from ancient remains. However, postmortem DNA damage and contamination make the data analysis difficult because of DNA fragmentation and nucleotide alterations. In this regard, the assessment of the heteroplasmic fraction in ancient mtDNA has always been considered an unachievable goal due to the complexity in distinguishing true endogenous variants from artifacts. We implemented and applied a computational pipeline for mtDNA analysis to a dataset of 30 ancient human samples from an Iron Age necropolis in Poliz…
Jaunu ģenētisko variantu funkcionāla raksturošana izmantojot izolētas pacientu šūnas
2022
Mutācijas gan mitohondriālajā DNS, gan kodola DNS var izraisīt traucējumus mitohondriju oksidatīvās fosforilēšanas sistēmā, kas var būt cēlonis smagām mitohondriālajām slimībām. Mitohondriālo slimību diagnostika ir komplicēta, un tai izmanto lielu laboratorijas metožu klāstu. Darba “JAUNU ĢENĒTISKO VARIANTU FUNKCIONĀLA RAKSTUROŠANA IZMANTOJOT IZOLĒTAS PACIENTU ŠŪNAS” mērķis ir raksturot jaunus ģenētiskos variantus reto ģenētisko slimību pacientiem, izmantojot molekulārās un bioķīmiskās metodes, kā arī perifēros leikocītus un kultivētus fibroblastus. Tika veikta DNS variantu validācija ar Sangera sekvencēšanu, šūnu līniju izveidošana un kultivēšana, mitohondriju izdalīšana no šūnu kultūrām u…
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021
International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intel…
Functional variants of 5S rRNA in the ribosomes of common sea urchin Paracentrotus lividus
2012
Abstract We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus ; this study, performed at DNA level only, lends itself as starting point to verify that these clusters could contain transcribed genes, then, to demonstrate the presence of heterogeneity at functional RNA level, also. In the present work we report in P. lividus ribosomes the existence of several transcribed variants of the 5S rRNA and we associate all transcribed variants to the cluster to which belong. Our finding is the first demonstration of the presence of high heterogeneity in functional 5S rRNA molecules in animal ribosomes, a f…
The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia
2020
Abstract Background Cognitive impairment is a clinically important feature of schizophrenia. Polygenic risk score (PRS) methods have demonstrated genetic overlap between schizophrenia, bipolar disorder (BD), major depressive disorder (MDD), educational attainment (EA), and IQ, but very few studies have examined associations between these PRS and cognitive phenotypes within schizophrenia cases. Methods We combined genetic and cognitive data in 3034 schizophrenia cases from 11 samples using the general intelligence factor g as the primary measure of cognition. We used linear regression to examine the association between cognition and PRS for EA, IQ, schizophrenia, BD, and MDD. The results wer…
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy
2020
Diseases associated with acquired or genetic defects in members of the chaperoning system (CS) are increasingly found and have been collectively termed chaperonopathies. Illustrative instances of genetic chaperonopathies involve the genes for chaperonins of Groups I (e.g., Heat shock protein 60, Hsp60) and II (e.g., Chaperonin Containing T-Complex polypeptide 1, CCT). Examples of the former are hypomyelinating leukodystrophy 4 (HLD4 or MitCHAP60) and hereditary spastic paraplegia (SPG13). A distal sensory mutilating neuropathy has been linked to a mutation [p.(His147Arg)] in subunit 5 of the CCT5 gene. Here, we describe a new possibly pathogenic variant [p.(Leu224Val)] of the same subunit b…