Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.

GTP-Binding Protein alpha Subunits, Gs / genetics Humans Chromogranins / genetics Pseudohypoparathyroidism / genetics Genetic Association Studies Mutation Female Male Child Sequence Deletion Phenotype
GNAS PHP1a c.565_568delGACT heterotopic ossifications intellectual disability

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:
10 Oct 2024
Historique:
received: 06 09 2024
revised: 01 10 2024
accepted: 07 10 2024
medline: 26 10 2024
pubmed: 26 10 2024
entrez: 26 10 2024
Statut: epublish

Résumé

Defects of the

Identifiants

DOI: 10.3390/ijms252010913 PMID: 39456695
pubmed: 39456695
pii: ijms252010913
doi: 10.3390/ijms252010913
pii:
doi:

Substances chimiques

GTP-Binding Protein alpha Subunits, Gs EC 3.6.5.1
GNAS protein, human EC 3.6.1.-
Chromogranins 0

Types de publication

Journal Article Review Case Reports

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Lorenzo Cipriano (L)

Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.

Rosario Ferrigno (R)

Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.

Immacolata Andolfo (I)

Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.

Roberta Russo (R)

Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
ORCID: 0000-0002-3624-7721

Daniela Cioffi (D)

Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.

Maria Cristina Savanelli (MC)

Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.

Valeria Pellino (V)

Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.

Antonella Klain (A)

Endocrinology and Auxology Unit, Pediatrics Speciality Department, A.O.R.N. Santobono-Pausilipon, 80131 Naples, Italy.

Achille Iolascon (A)

Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
ORCID: 0000-0002-9558-0356

Carmelo Piscopo (C)

Medical and Laboratory Genetics Unit, A.O.R.N. "Antonio Cardarelli", 80131 Naples, Italy.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines G hétérotrimériques › Sous-unités alpha des protéines G › Sous-unités alpha Gs des protéines G › Genotype-Phenotype Correlation of GNAS Gene:...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genotype-Phenotype Correlation of GNAS Gene:...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Précurseurs de protéines › Chromogranine › Genotype-Phenotype Correlation of GNAS Gene:...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme des métaux › Pseudohypoparathyroïdie › Genotype-Phenotype Correlation of GNAS Gene:...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Genotype-Phenotype Correlation of GNAS Gene:...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Genotype-Phenotype Correlation of GNAS Gene:...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Genotype-Phenotype Correlation of GNAS Gene:...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Genotype-Phenotype Correlation of GNAS Gene:...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Genotype-Phenotype Correlation of GNAS Gene:...