About: Julien Fauré

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An Entity of Type : foaf:Person, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Person
sameAs	Fauré, Julien (19..-.... ; biologiste) Fauré, Julien (19..-.... ; biologiste)
Life Event	http://www.idref.fr/146630424/birth
preferred label	Fauré, Julien (19..-.... ; biologiste)
name	Julien Fauré
dbpedia-owl:citizenship	http://sws.geonames.org/3017382/
Language	http://lexvo.org/id/iso639-3/fra
Given name	Julien
familyName	Fauré
has biographical i...tion (Deprecated)	Auteur et directeur de thèse en biologie Maître de conférence, praticien hospitalier, Laboratoire de biologie médicale, CHU de Grenoble (2021)
gender	male
ORCID iD	0000-0002-3660-9809
Scopus ID	7201809073
is sameAs of	Fauré, Julien (19..-.... ; biologiste) Fauré, Julien (19..-.... ; biologiste) Fauré, Julien (19..-.... ; biologiste)
is Thesis advisor of	http://www.sudoc.fr/223482900/id http://www.sudoc.fr/172517109/id http://www.sudoc.fr/188930728/id http://www.sudoc.fr/171785290/id http://www.sudoc.fr/244879893/id http://www.sudoc.fr/253759242/id http://www.sudoc.fr/281026750/id
is Praeses of	http://www.sudoc.fr/185420613/id http://www.sudoc.fr/271836385/id http://www.sudoc.fr/270143688/id
is Author of	http://www.sudoc.fr/049588508/id http://www.sudoc.fr/146629221/id Mechanism of NADPH Oxidase Activation by the Rac/Rho-GDI Complex Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends. The calcium release complex in skeletal muscle and its associated diseases Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management. Small Angle Neutron Scattering and Gel Filtration Analyses of Neutrophil NADPHOxidase Cytosolic Factors Highlight the Role of the C-Terminal End of p47phox inthe Association with p40phox Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in $Trypanosoma$ and human. Caveolin 3 is associated with the calcium release complex and is modified via in vivo triadin modification. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells http://www.sudoc.fr/246451483/id Corrigendum to "22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017" [Neuromuscular Disorders 27S2 (2017) S51-S270] Interplay between triadin and calsequestrin in the pathogenesis of CPVT in mouse Régulation des GTPases de la famille RHO par RHO-GDI A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course Triadin: what possible function 20 years later? SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes Triadin deletion induces impaired skeletal muscle function. Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing [Ryanodine receptor type 1: redox state matters] https://orbi.uliege.be/handle/2268/232914#id Exosomes are released by cultured cortical neurones. TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB Crystal Structure of the Rac1−RhoGDI Complex Involved in NADPH OxidaseActivation, Endosome-to-cytosol transport of viral nucleocapsids. Ryanodine receptor 1 and associated pathologies Functional characterization of a Central Core Disease RyR1 mutation (p.Y4864H) associated with quantitative defect in RyR1 protein Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) Phospholipase A2 Receptor–Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease In vivo RyR1 reduction in muscle triggers a core-like myopathy Role of triadin in the organization of reticulum membrane at the muscle triad. https://orbi.uliege.be/handle/2268/268471#id https://orbi.uliege.be/handle/2268/295917#id Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores https://archive-ouverte.unige.ch/unige:99219#id http://hub.abes.fr/edp/periodical/medsci/2008/volume_24/issue_11/medsci20082411p897/w https://hal.archives-ouvertes.fr/hal-04789691#id
is primary topic of	http://www.idref.fr/146630424
is Opponent of	http://www.sudoc.fr/223470457/id http://www.sudoc.fr/202778053/id
is Thesis referee of	http://www.sudoc.fr/178654094/id http://www.sudoc.fr/254633056/id

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