Search results for "tarda"

Broadening the phenotypic spectrum and physiological insights related toEIF2S3variants

2021

Mental deficiency, epilepsy, hypogonadism, microcephaly and obesity (MEHMO) syndrome is a severe X-linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor-2, eIF2, essential for protein translation. A recurrent frameshift variant is described in severely affected patients while missense variants usually cause a moderate phenotype. We identified a novel missense variant (c.433A>G, p.(Met145Val)) in EIF2S3 in a mildly affected patient. Studies on zebrafish confirm the pathogenicity of this novel variant and three previously published missense variants. CRISPR/Cas9 knockout of eif2s3 in zebrafish embryos recapitula…

Molecular orbital studies on brominated diphenyl ethers. Part I—conformational properties

2005

Polybrominated diphenyl ethers (PBDEs) are widely used as additive flame retardants and quantities in the environment are on the rise. Because they are structurally related to polychlorinated biphenyls and also to thyroid hormones, there is serious concern that PBDEs may pose a danger to human health. Knowledge of their conformational properties is key to assessing their environmental fate and risk. The conformational properties of PBDEs were investigated by quantum chemical methods including semiempirical self-consistent field molecular orbital (SCF-MO), ab initio SCF-MO and density functional theory (DFT). Conformational analyses of model congeners 2,2',4,6'-tetrabromodiphenyl ether and 2…

Brominated flame retardants and toxic elements in the meat and liver of red deer (Cervus elaphus), wild boar (Sus scrofa), and moose (Alces alces) fr…

2017

In order to evaluate the contamination status of terrestrial biota in Latvia, muscle and liver tissues of red deer (Cervus elaphus), wild boar (Sus scrofa), and moose (Alces alces) were analyzed for the content of polybrominated diphenyl ethers (PBDE), hexabromocyclododecane (HBCD), tetrabromobisphenol A (TBBPA), as well as cadmium and lead. The highest mean concentrations of PBDEs (46.6pgg-1 wet weight (w.w.)), cadmium (0.95mgkg-1 w.w.), and lead (0.22mgkg-1 w.w.) were observed in the tissues of moose, while the wild boar samples contained the highest levels of HBCD, with the mean concentration equal to 264pgg-1 w.w. in muscle tissues. Generally low mean concentrations of TBBPA from 0.52 t…

Ythdf is a N6‐methyladenosine reader that modulates Fmr1 target mRNA selection and restricts axonal growth in Drosophila

2021

Abstract N6‐methyladenosine (m6A) regulates a variety of physiological processes through modulation of RNA metabolism. This modification is particularly enriched in the nervous system of several species, and its dysregulation has been associated with neurodevelopmental defects and neural dysfunctions. In Drosophila, loss of m6A alters fly behavior, albeit the underlying molecular mechanism and the role of m6A during nervous system development have remained elusive. Here we find that impairment of the m6A pathway leads to axonal overgrowth and misguidance at larval neuromuscular junctions as well as in the adult mushroom bodies. We identify Ythdf as the main m6A reader in the nervous system,…

Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

2015

no abstract available

Toxic Effects of Organometallic Compounds towards Marine Biota

2002

Organometallic derivatives are compounds containing a direct σ or π carbon metal linkage. Furthermore, the concept of the metallic atom must be extended to all the elements that are less negative than the carbon atom. As a consequence, taking into account all elements that are less negative than carbon and the number of existing organic compounds, it is possible to synthesize millions of organometallic derivatives. Several of these are extensively used in organic syntheses; others may find application in agriculture and in many other fields as pesticides, fire retardants, wood preservatives, antifouling agents, etc. In general, the organic derivatives of the metals are more toxic than the p…

Uso e riuso dei marmi nei pavimenti delle Terme dello scheletro a Ostia

2017

International audience

Fotja, Pioc salvatge, Avutarda común (VER0000205)

Great Bustard (Anglès), Grande Outarde (Francès), Großtrappe (Alemany) Gabinet de Vertebrats (Departament de Zoologia), Facultat de Ciències Biològiques (Campus de Burjassot), C/ Doctor Moliner, s/n, Bloque B. 5é plant, Burjassot (Valencia). Armari: 7-2 Villarrobledo Macho Adulto

Common variants conferring risk of schizophrenia

2009

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…

Meson retardation in deuteron electrodisintegration

2004

The effect of meson retardation in $NN$-interaction and exchange currents on deuteron electrodisintegration is studied in a coupled channel approach including $NN$-, $N \Delta$- and $\pi d$-channels. It is shown that the influence of retardation depends on the energy regime: Whereas below $\pi$-threshold calculations with static and retarded operators yield almost identical results, they differ significantly in the $\Delta$-region. Especially, the longitudinal and the longitudinal-transverse interference structure functions are strongly affected.