X-linked retinitis pigmentosa
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations
... Molecular Characterization of the RPGR-RP Cohort We identified RPGR causative variants in 48 male patients (from 31 unrelated families) diagnosed with RP. Almost one third of the patients were part of larger pedigrees ...
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Retinitis pigmentosa.
... Treating the cause of the disease • Gene therapy This approach requires the implicated genes to be identi- fied and therefore, the availability of efficient genotyping methods. The strategy is relatively simple for RP ...
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High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in France and characterization of biochemical and clinical features.
... Among the variety of retinal degenerations caused by PRPH2 mutations, autosomal dominant retinitis pigmentosa (adRP) is the most frequent condition. Typical symptoms of RP include night blindness, ...
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Socio-demographic, visual and psychological factors associated with adjustment to vision loss in retinitis pigmentosa
... is linked to fluctuations of glucose levels in the blood, those with DR may feel partially or fully responsible for their condition if, for example, they did not control their glucose levels ...
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Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.
... 11. A. Beckers, M.B. Lodish, G. Trivellin, L. Rostomyan, M. Lee, F.R. Faucz, B. Yuan, C.S. Choong, J.H. Caberg, E. Verrua, L.A. Naves, T.D. Cheetham, J. Young, P.A. Lysy, P. Petrossians, A. Cotterill, N.S. Shah, D. ...
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CoReWeb: From Linked Documentary Resources to Linked Computational Resources
... a linked data perspective, every URI minter/resource publisher is indeed strongly encouraged to make them dereferencable, so that it is possible to navigate between RDF concepts in the same manner as between ...
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The X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage
... Prolonged cell survival occurs through the expression of speci fic protein isoforms generated by alternate splicing of mRNA precursors in cancer cells. How alternate splicing regulates tumor development and resistance to ...
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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
... (2013) X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney ...
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
... We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon ( TMLHE) gene in a proband with autism. TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6- ...
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Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy
... Kennedy disease (X-Linked recessive Bulbospinal Neuronopathy): a comprehensive review from pathophysiology to therapy. Abstract Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), ...
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rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy
... LC–MS/MS identification and quantitative analysis of protein Preparation: 7-mm long muscle fibres were dissected and their CSA calculated as above. These fibres were then placed in tubes containing 25 µl Tris-Triton ...
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Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations
... A second disease gene has been recently identified. Indeed, studying a family in which CdLS was apparently transmitted as an X-linked trait, Musio et al. (2006) detected mutations in the SMC1L1 gene in ...
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Normative Requirements as Linked Data
... requirements and rules. As a contribution, we specified and formalized an ontology extending LegalRuleML, and we showed how it can be used to represent normative requirements as Linked Data with states of affairs ...
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Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome
... Mutations in the AP1S2 gene, encoding the r1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recently identified in five X-linked mental retardation (XLMR) families, including ...
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Summarized Explanations from Linked Justifications
... the Linked Data [3] initiatives, it is important that data publishers can publish their data with explanation related metadata with ...the Linked Data principles to publish explanation metadata - ...
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Bargaining with Linked Disagreement Points
... 1 (F 1 D 1 ) 0, as was to be proven. The other inequalities are proven similarly. Several solutions stand out among the ones satisfying axioms 1-5. For instance, any rule taking a convex combination of the relative ...
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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
... BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several path- ways, including ER-associated degradation, export of ER proteins to the Golgi apparatus, ...
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x+⅟x, irrationnels
... Solution. 1. Soit k ∈ Z. Supposons que ∃x ∈ R \ Q, x + 1 x = k. Cette équation équivaut à x 2 − kx + 1 = 0. C’est une équation du second degré en x. Elle admet donc au moins une ...
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Spamming in Linked Data
... the Linked Data and Semantic Web research community has not systematically addressed the issue of Linked Data ...suming Linked Data become more widespread this need must be ...exploits Linked ...
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