Dietary DHA and ARA level and ratio affect the occurrence of skeletal anomalies in pikeperch larvae (Sander lucioperca) through a regulation of immunity and stress related gene expression
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DOI: 10.1016/j.aquaculture.2021.737060
Abstract: Abstract Several causative factors have been proposed for the occurrence of skeletal anomalies in fish larvae, among which we quote nutritional factors, such as LC-PUFAs. This study aimed to investigate the effect of different dietary… read more here.
Keywords: dha; expression; dietary dha; stress ... See more keywords
Skeletal Anomalies in The Neandertal Family of El Sidrón (Spain) Support A Role of Inbreeding in Neandertal Extinction
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DOI: 10.1038/s41598-019-38571-1
Abstract: Neandertals disappeared from the fossil record around 40,000 bp, after a demographic history of small and isolated groups with high but variable levels of inbreeding, and episodes of interbreeding with other Paleolithic hominins. It is reasonable… read more here.
Keywords: sidr spain; cervical vertebra; sidr; skeletal anomalies ... See more keywords
Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies
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DOI: 10.3341/kjo.2020.0087
Abstract: Dear Editor, Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degeneration that features degeneration of rod and cone photoreceptors [1]. The CFAP410 gene (previously known as C21orf2) encodes a ciliary protein that plays… read more here.
Keywords: pathogenic variants; skeletal anomalies; retinitis pigmentosa; autosomal recessive ... See more keywords
A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies
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DOI: 10.3389/fgene.2022.840577
Abstract: Background: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a rare syndromic disorder characterized by global neurodevelopmental delay, early-onset hypotonia, poor overall growth, poor speech/language ability, and additional common phenotypes such as… read more here.
Keywords: neurodevelopmental disorder; skeletal anomalies; dysmorphic facies; facies distal ... See more keywords
Ponticulus posticus in a cohort of orthodontic children and adolescent patients with different sagittal skeletal anomalies: a comparative cone beam computed tomography investigation.
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DOI: 10.5603/fm.a2017.0075
Abstract: BACKGROUND The objective of this study was to evaluate the prevalence and characteristics of ponticulus posticus (PP) in groups with sagittal skeletal anomalies in a Turkish population using cone beam computed tomography (CBCT). MATERIALS AND… read more here.
Keywords: sagittal skeletal; beam computed; ponticulus posticus; cone beam ... See more keywords