About: An inheritedLMNAgene mutation in atypical Progeria syndrome

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: An inheritedLMNAgene mutation in atypical Progeria syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 18 September 2012

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2012 (fr) наукова стаття, опублікована у вересні 2012 (uk) im September 2012 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 18 September 2012 (en) artículu científicu espublizáu en setiembre de 2012 (ast)
publication date	wds:Q58376304-04A3378C-6AB8-49D8-ADCD-7271ED048F5B
publication date	2012-09-18 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q58376304-4A361536-9E86-45DF-9954-470D2B55D193
language of work or name	English
cites work	wds:Q58376304-1A509391-3198-4AA8-A482-5480739EEE36 wds:Q58376304-341BBDCA-2BD2-444E-BD2B-5AAD6A92463D wds:Q58376304-35026C33-4F11-4705-9EAB-89896226A3CC wds:Q58376304-4C8BB04C-871F-4552-9EC7-B31C057A650D wds:Q58376304-52D726AC-D3FC-4987-ADD7-D641B7398CF5 wds:Q58376304-57091ED3-B9EF-4B1D-B587-B37F405BF9B8 wds:Q58376304-58D4747F-E5E9-4543-8668-2DF934D37FA8 wds:Q58376304-5A6DAC79-C7A4-4808-862F-5ABC33C7EC58 wds:Q58376304-6BE737BB-96BF-48CE-A9BE-43C2792FE235 wds:Q58376304-8FEBD9F9-FB45-41FC-87E7-01B6C669DB1B wds:Q58376304-94224A86-71F3-42D5-984F-226475B13140 wds:Q58376304-98D14E8F-CA5E-4227-8F19-B8132A605C2C wds:Q58376304-A52B8B33-4226-4E34-9DA4-166ED2ECBD33 wds:Q58376304-AFF6E0AC-DCD9-472C-B747-1D726CC9A7F1 wds:Q58376304-C1C389AB-8B45-4747-BEBC-300861DF9EE1 wds:Q58376304-C5556560-B3AA-43F0-A207-B09CDFEDA92B wds:Q58376304-CF07AA48-E7E0-4FB8-B46A-8C6443DBCE32 wds:Q58376304-DACB5988-18E2-4F7E-A9F5-40568D2D7CFE wds:Q58376304-E161B186-C2CA-4265-9C54-9D5A1F76EFB0 wds:Q58376304-EC8882FE-46C6-441F-A392-DFA25379AC28 wds:Q58376304-FA75F163-DBC5-4E02-80B8-EBB87378C8D9
cites work	A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy Somatic and gonadal mosaicism in Hutchinson-Gilford progeria LMNA mutations in atypical Werner's syndrome Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome Lamin a truncation in Hutchinson-Gilford progeria. Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation Hutchinson-Gilford progeria syndrome: review of the phenotype. Néstor-Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutations Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease Nuclear lamins: key regulators of nuclear structure and activities p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features Atypical progeroid syndrome due to heterozygous missense LMNA mutations Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance. LMNA mutation in progeroid syndrome in association with strokes. Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation
author name string	wds:Q58376304-6E213248-5106-4FFD-8FE5-F596D8634C51 wds:Q58376304-C21B0B09-E299-4267-B2DD-CE43C999CE69 wds:Q58376304-D1716D1D-EE02-4DB9-A715-8CDA9EB3B422 wds:Q58376304-DA217D38-9A3D-4757-B247-F121922A6689 wds:Q58376304-E2E10710-B901-44B2-8101-ACD94AA19942
author name string	Abdelaziz Sefiani Siham Chafai Elalaoui Yassamine Doubaj Mariam Tajir Esteves-Vieira Vera
rdfs:label	An inheritedLMNAgene mutation in atypical Progeria syndrome (en) An inheritedLMNAgene mutation in atypical Progeria syndrome (nl)
skos:prefLabel	An inheritedLMNAgene mutation in atypical Progeria syndrome (en) An inheritedLMNAgene mutation in atypical Progeria syndrome (nl)
name	An inheritedLMNAgene mutation in atypical Progeria syndrome (en) An inheritedLMNAgene mutation in atypical Progeria syndrome (nl)
author	wds:Q58376304-853FEFBF-AADF-47EB-AC96-8054F5A8E841 wds:Q58376304-946F3C64-821F-4FC5-862E-477465A50AB0 wds:Q58376304-D9A168B3-8F1E-4F71-AB28-6B5F8CDCF13E
author	Annachiara De Sandre-Giovannoli Nicolas Levy Claire L Navarro
title	wds:Q58376304-3A5F4B89-A69E-4624-8E70-6173632816AD
title	An inherited LMNA gene mutation in atypical Progeria syndrome (en)
page(s)	wds:Q58376304-9A203476-61F5-4B3D-94ED-8FB410110CE4
page(s)	2881-2887
instance of	wds:Q58376304-F29924ED-3A9B-479F-AA0B-E3DD8A0CF515
instance of	scholarly article
main subject	wds:Q58376304-FB3CF258-9132-4AC9-9EBA-857A8A2964F5
main subject	progeria
PubMed ID	wds:Q58376304-260092F0-F3EF-4420-A515-F467D4B51F5D
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/22991222
PubMed ID	22991222
published in	wds:Q58376304-816FA0F7-0366-401C-B8BF-C61F5BFD6A6E
published in	American Journal of Medical Genetics
issue	wds:Q58376304-7513BFA1-9B2B-4BFA-8AD3-DB86F5E588F8
volume	wds:Q58376304-1B7A6AD2-CBE6-4FF3-82FB-448D006AA604
issue	11
volume	158A
DOI	wds:Q58376304-9E06BC05-4730-40DD-9890-7783427983A6
DOI	http://dx.doi.org/10.1002/AJMG.A.35557
DOI	10.1002/AJMG.A.35557
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q58376304
is cites work of	The epidemiology of premature aging and associated comorbidities LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset Molecular insights into the premature aging disease progeria Protein sequestration at the nuclear periphery as a potential regulatory mechanism in premature aging.

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 194 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software