About: Marianne Abifadel

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

About: Marianne Abifadel Goto Sponge NotDistinct Permalink

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	Forscher (de) researcher (en) investigador (es) chercheur (fr) дослідниця (uk) 研究者 (zh) 研究員 (ja) onderzoeker (nl)
rdfs:label	Marianne Abifadel (en) Marianne Abifadel (nl)
skos:prefLabel	Marianne Abifadel (en) Marianne Abifadel (nl)
name	Marianne Abifadel (en) Marianne Abifadel (nl)
given name	wds:Q98778665-DD1A3C0B-45A8-4C39-B84D-1AA4FB2DC40E
given name	Marianne
instance of	wds:Q98778665-13AF0879-AEA8-4984-AB48-266165F02C9F
instance of	Homo sapiens
occupation	wds:Q98778665-42793053-34AA-4A74-A5DB-EC7360F08904
employer	wds:Q98778665-1BEFB4D4-73C2-4243-ACC8-35229CC9E321 wds:Q98778665-35DD5EFC-AE6B-4AB9-9A3A-A30F861967D0 wds:Q98778665-759ED724-FF80-45AE-8D99-017E51D28F42 wds:Q98778665-7B2B3DEE-1D10-489E-BCCB-1C9640881A62 wds:Q98778665-9D0E704C-59BC-45C2-8441-21915935040D wds:Q98778665-AAB9BBDD-2F00-4DFC-AFD1-FFD1E94E2424 wds:Q98778665-CCD86360-1F21-41CF-BC55-CFCB1E74C9A8
sex or gender	wds:Q98778665-B5170E10-BEC5-4B57-9E69-188D87702085
ISNI	wds:Q98778665-BDA66318-A7FA-41FC-81E2-8D594D1F2DDC
VIAF ID	wds:Q98778665-1E9BB6EA-BA37-43EE-B3B8-83117BB379D2
IdRef ID	wds:Q98778665-AF73DDBA-A010-4096-9C5B-D92E5891AD3D
date of birth	wds:Q98778665-6CCC5333-BCA6-4B6D-8606-37FC27A6E0B3
educated at	wds:Q98778665-3C6B965C-E84B-4A1B-8C6A-E3C20E0ED66C wds:Q98778665-4A0D13AC-5FC9-4415-891C-B5CA30624A0F wds:Q98778665-69383764-C338-4291-BCE0-90FA1BAF97C9 wds:Q98778665-6F392974-92A7-4539-BE33-40E2E47BFD80 wds:Q98778665-85D4033E-D211-4F27-BFCF-1E4B77ED2EB6
VIAF ID	http://viaf.org/viaf/213093811
IdRef ID	http://www.idref.fr/078880947/id
occupation	researcher
employer	Hôtel-Dieu de France Necker–Enfants Malades Hospital Saint Joseph University
sex or gender	female organism
ISNI	0000000359168150
VIAF ID	213093811
IdRef ID	078880947
date of birth	1973-01-01 00:00:00Z (xsd:dateTime)
educated at	Paris Diderot University Paris Descartes University Saint Joseph University
ORCID iD	wds:Q98778665-2D70A6AB-5752-4C9B-A624-703A3FA26CDF
ORCID iD	https://orcid.org/0000-0001-7645-8323
ORCID iD	0000-0001-7645-8323
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q98778665
is author of	TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Heterozygous TGFBR2 mutations in Marfan syndrome Mutations in PCSK9 cause autosomal dominant hypercholesterolemia Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene Strategies for proprotein convertase subtilisin kexin 9 modulation: a perspective on recent patents A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia The UMD-LDLR database: additions to the software and 490 new entries to the database. Molecular spectrum of autosomal dominant hypercholesterolemia in France Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease) Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome PCSK9 polymorphism in a Tunisian cohort: identification of a new allele, L8, and association of allele L10 with reduced coronary heart disease risk MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections Exome sequencing in suspected monogenic dyslipidemias [PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis] Plasma proprotein-convertase-subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes. Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia? Proprotein convertase subtilisin / kexin 9 (PCSK9) inhibitors and the future of dyslipidemia therapy: an updated patent review (2011-2015). [Anti-PCSK9 in coronary artery disease: genetic progress, therapeutic approaches] Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia. Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
is author of	wds:Q34329723-2F386B35-E992-45D2-B6FB-0C33BB3E7A0B wds:Q35153026-06EF64AF-AB72-4A3A-94EF-3AE1E48E9B27 wds:Q39470583-915632F3-74D9-46F8-8B1E-C72D3952A6A4 wds:Q43873780-D01E17D5-473A-4776-BF68-43D49C8A4779 wds:Q34347298-1ED2EADB-6B84-4757-AF75-45B890F4DF87 wds:Q30498009-45851E50-5BDE-4066-842A-63F21D363F6A wds:Q39470599-9A1BAE67-759E-43B8-8484-7E5614A6E050 wds:Q34430377-F6E8F908-A67F-4491-B667-C25B9947E923 wds:Q37789741-1852B376-B724-4D52-B5A0-E7198A66AD3A wds:Q85222658-CCE7C7CB-EB5E-4963-A696-9B7625745993 wds:Q34323329-8F4A812B-F1AA-4D7E-BD05-F659AE01CCE5 wds:Q34331334-B6EA838E-248D-4679-89A1-B24EC82235C4 wds:Q79353675-76F3316A-7BE5-42C2-BE5C-4D2AE8520B25 wds:Q82625214-754C62DD-B991-4244-8F36-BCF0B6622885 wds:Q34657908-9013F1BF-41E7-4E31-83B5-DD97F75BA95B wds:Q34747495-646ADF06-95F0-4DCC-BF94-E3B70E1C5F1C wds:Q48178320-7D8AC3FF-4950-4A0B-B756-FFCEA52C8E88

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, 172 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software