About: Gisèle Bonne

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

researcher

Attributes	Values
rdf:type	Item
description	forskare (sv) researcher (en) 연구원 (ko) গবেষক (bn) 研究者 (ja) araştırmacı (tr) wetenschapper (nl) дослідниця (uk) वैज्ञानिक (hi) изилдөөчү (ky) 研究者 (zh) հետազոտող (hy) hulumtuese (sq) ricercatrice (it)
rdfs:label	Gisèle Bonne (en) Gisèle Bonne (es) Gisèle Bonne (fr) Gisèle Bonne (nl) Gisèle Bonne (sl) Gisèle Bonne (ast)
skos:prefLabel	Gisèle Bonne (en) Gisèle Bonne (es) Gisèle Bonne (fr) Gisèle Bonne (nl) Gisèle Bonne (sl) Gisèle Bonne (ast)
name	Gisèle Bonne (en) Gisèle Bonne (es) Gisèle Bonne (fr) Gisèle Bonne (nl) Gisèle Bonne (sl) Gisèle Bonne (ast)
given name	wds:Q47352548-3BE564B1-D44B-4452-B3C9-E7EF5012C091
given name	Gisèle
instance of	wds:Q47352548-53680913-D0B8-4AC6-B8F2-5D27A6E5E628
instance of	Homo sapiens
occupation	wds:Q47352548-F3A89237-813A-4F79-9A25-7C8285B35823
employer	wds:Q47352548-81E25ECC-41AF-4AF7-BF4C-FA86E9F4D70C
sex or gender	wds:Q47352548-41AC6F1F-33F6-4329-8FB2-A8442A15CFF4
ISNI	wds:Q47352548-A2F1F7FD-C42A-4A60-AC81-981330420E3A
VIAF ID	wds:Q47352548-5A0FB2B2-98EE-4ECF-96E7-EA0BD7C9F808
IdRef ID	wds:Q47352548-630513AC-4D8B-4754-8303-139DA44A7A32
date of birth	wds:Q47352548-EB9255FC-BC07-4C55-A9D6-45E817F8536D
educated at	wds:Q47352548-ACCD6C42-4D2A-41F8-8431-F8DBF1DA9B39 wds:Q47352548-D6E35C60-CE56-4398-A936-7B88EE458902
WorldCat Identities ID (superseded)	wds:Q47352548-84C47690-9F3E-4BED-95C5-C9622D9516F4
VIAF ID	http://viaf.org/viaf/208878285
IdRef ID	http://www.idref.fr/075894920/id
occupation	researcher
employer	French National Institute of Health and Medical Research
sex or gender	female organism
ISNI	0000000432065626
VIAF ID	208878285
IdRef ID	075894920
date of birth	1966-01-01 00:00:00Z (xsd:dateTime)
educated at	Pierre and Marie Curie University
WorldCat Identities ID (superseded)	viaf-208878285
ORCID iD	wds:Q47352548-5853F35B-9C83-4582-A770-406D8E94D596
ORCID iD	https://orcid.org/0000-0002-2516-3258
ORCID iD	0000-0002-2516-3258
ResearcherID	wds:Q47352548-A5BBD58E-4BB2-46D6-961B-D44221AB6A3F
Publons author ID	wds:Q47352548-01efa5c8-34a6-4272-bfc7-dd17b0d160de
ResearcherID	G-3121-2013
Publons author ID	426286
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q47352548
is author of	Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy First description of germline mosaicism in familial hypertrophic cardiomyopathy. Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies Emery-Dreifuss muscular dystrophy A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Distinction between two populations of islet-1-positive cells in hearts of different murine strains Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations Improvement of Left Ventricular Dysfunction and of Survival Prognosis of Dilated Cardiomyopathy by Administration of Calcium Sensitizer SCH00013 in a Mouse Model Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C Nuclear lamins: laminopathies and their role in premature ageing. De novo LMNA mutations cause a new form of congenital muscular dystrophy

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