The Putative Role of

Humans Female Hepatitis A Virus Cellular Receptor 2 / genetics Exome Sequencing Polyendocrinopathies, Autoimmune / genetics Adolescent Autoimmunity / genetics Polymorphism, Single Nucleotide Mutation Genetic Predisposition to Disease
SNP TIM-3 WES autoimmune polyendocrine syndrome etiopathogenesis

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
12 Oct 2024
Historique:
received: 28 08 2024
revised: 08 10 2024
accepted: 10 10 2024
medline: 26 10 2024
pubmed: 26 10 2024
entrez: 26 10 2024
Statut: epublish

Résumé

Autoimmune polyglandular syndrome (APS) comprises a complex association of autoimmune pathological conditions. APS Type 1 originates from loss-of-function mutations in the autoimmune regulator (

Identifiants

DOI: 10.3390/ijms252010994 PMID: 39456777
pubmed: 39456777
pii: ijms252010994
doi: 10.3390/ijms252010994
pii:
doi:

Substances chimiques

Hepatitis A Virus Cellular Receptor 2 0
HAVCR2 protein, human 0

Types de publication

Journal Article Case Reports

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Italian Ministry of Health
ID : current research funds

Auteurs

Andrea Ariolli (A)

Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
ORCID: 0000-0001-9967-1290

Emanuele Agolini (E)

Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
ORCID: 0000-0001-6543-6225

Tommaso Mazza (T)

Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
Laboratory of Bioinformatics, Casa Sollievo della Sofferenza, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 70013 San Giovanni Rotondo, Foggia, Italy.
ORCID: 0000-0003-0434-8533

Francesco Petrizzelli (F)

Laboratory of Bioinformatics, Casa Sollievo della Sofferenza, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 70013 San Giovanni Rotondo, Foggia, Italy.
ORCID: 0000-0002-9478-7929

Stefania Petrini (S)

Confocal Microscopy Core Facility, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
ORCID: 0000-0002-3249-0003

Valentina D'Oria (V)

Confocal Microscopy Core Facility, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.

Annamaria Cudini (A)

Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.

Caterina Nardella (C)

Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.

Vanessa Pesce (V)

Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.

Donatella Comparcola (D)

Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.

Marco Cappa (M)

Research Unit Innovative Therapies for Endocrinopathies, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
ORCID: 0000-0001-5647-7519

Alessandra Fierabracci (A)

Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.
ORCID: 0000-0003-3078-9754

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The Putative Role of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs viraux › Récepteur cellulaire-2 du virus de l'hépatite A › The Putative Role of
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › The Putative Role of
questionsmedicales.fr › Maladies du système immunitaire › Maladies auto-immunes › Polyendocrinopathies auto-immunes › The Putative Role of
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › The Putative Role of
questionsmedicales.fr › Phénomènes du système immunitaire › Immunité › Auto-immunité › The Putative Role of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › The Putative Role of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › The Putative Role of
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › The Putative Role of