About: Phenotype Genotype Correlations In Patients With The Marinesco-Sjögren Syndrome: Novel Findings and Review of The Literature

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About: Phenotype Genotype Correlations In Patients With The Marinesco-Sjögren Syndrome: Novel Findings and Review of The Literature Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://onlinelibrary.wiley.com/doi/10.1111/cge.12230/pdf
Description	Marinesco-Sjögren syndrome (MSS;MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar ataxia, early cataracts, developmental delay, myopathy and short stature. Alterations in the gene SIL1 cause MSS in some patients with typical findings. In this study, molecular investigations including sequencing of the SIL1 gene, western blotting and microscopic investigations in fibroblast cultures were carried out in a cohort of 15 patients from 14 unrelated families, including the large, inbred family reported by Superneau et al, having the clinical features of MSS to provide insights in to the pathophysiology of the disorder. A total of seven different mutations were found in eight of the patients from seven families. The mutations caused loss of the BAP protein in four patients by western blot. Marinesco-Sjögren syndrome (MSS;MIM 248800) is an autosomal recessive disorder characterized by congenital cerebellar ataxia, early cataracts, developmental delay, myopathy and short stature. Alterations in the gene SIL1 cause MSS in some patients with typical findings. In this study, molecular investigations including sequencing of the SIL1 gene, western blotting and microscopic investigations in fibroblast cultures were carried out in a cohort of 15 patients from 14 unrelated families, including the large, inbred family reported by Superneau et al, having the clinical features of MSS to provide insights in to the pathophysiology of the disorder. A total of seven different mutations were found in eight of the patients from seven families. The mutations caused loss of the BAP protein in four patients by western blot. (en)
Title	Phenotype Genotype Correlations In Patients With The Marinesco-Sjögren Syndrome: Novel Findings and Review of The Literature Phenotype Genotype Correlations In Patients With The Marinesco-Sjögren Syndrome: Novel Findings and Review of The Literature (en)
skos:prefLabel	Phenotype Genotype Correlations In Patients With The Marinesco-Sjögren Syndrome: Novel Findings and Review of The Literature Phenotype Genotype Correlations In Patients With The Marinesco-Sjögren Syndrome: Novel Findings and Review of The Literature (en)
skos:notation	RIV/00216224:14310/13:00066247!RIV14-MSM-14310___
http://linked.open...avai/predkladatel	Přírodovědecká fakulta
http://linked.open...avai/riv/aktivita	P S Z
http://linked.open...avai/riv/aktivity	P(GAP305/11/0752), P(LH12004), S, Z(MSM0021622430)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Krejčí, Pavel
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	96037
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/13:00066247
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Marinesco-Sjogren Syndrome; BIP-associated protein; SIL1; endoplasmic reticulum stress (en)
http://linked.open.../riv/klicoveSlovo	BIP-associated protein Marinesco-Sjogren Syndrome SIL1 endoplasmic reticulum stress
http://linked.open...odStatuVydavatele	DK - Dánské království
http://linked.open...ontrolniKodProRIV	[D20F1632370F]
http://linked.open...i/riv/nazevZdroje	Clinical Genetics
http://linked.open...in/vavai/riv/obor	ED
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	FGFR3-specific adapterome and its role in pathological FGFR3 signaling in disease Molecular basis of FGFR3 signal transduction in skeletal dysplasia
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	1
http://linked.open...iv/tvurceVysledku	Krejčí, Pavel Wilcox, William R. Ezgu, Fatih De Sousa, Carlos Li, Shibo
http://linked.open...n/vavai/riv/zamer	Functional and molecular characteristics of cancer and normal stem cells - identification of targets for novel therapeutics and therapeutic strategies
issn	0009-9163
number of pages	2 (xsd:int)
http://bibframe.org/vocab/doi	10.1111/cge.12230
http://localhost/t...ganizacniJednotka	14310

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