@prefix prodottidellaricerca: . @prefix istituto: . @prefix prodotto: . istituto:CDS040 prodottidellaricerca:prodotto prodotto:ID27704 . @prefix modulo: . modulo:ID5927 prodottidellaricerca:prodotto prodotto:ID27704 . @prefix pubblicazioni: . @prefix unitaDiPersonaleEsterno: . unitaDiPersonaleEsterno:ID8267 pubblicazioni:autoreCNRDi prodotto:ID27704 . @prefix rdf: . prodotto:ID27704 rdf:type prodotto:TIPO1101 . @prefix retescientifica: . prodotto:ID27704 rdf:type retescientifica:ProdottoDellaRicerca . @prefix rdfs: . prodotto:ID27704 rdfs:label "Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove)syndrome. (Articolo in rivista)"@en . @prefix xsd: . prodotto:ID27704 pubblicazioni:anno "2010-01-01T00:00:00+01:00"^^xsd:gYear . @prefix skos: . prodotto:ID27704 skos:altLabel "
Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, Huebner A, De Grandis D, Chiarelli F, Ferlini A, Stuppia L. (2010)
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove)syndrome.
in Clinical genetics
"^^rdf:HTML ; pubblicazioni:autori "Palka C, Giuliani R, Brancati F, Mohn A, Di Muzio A, Calabrese O, Huebner A, De Grandis D, Chiarelli F, Ferlini A, Stuppia L."^^xsd:string ; pubblicazioni:paginaInizio "298"^^xsd:string ; pubblicazioni:paginaFine "301"^^xsd:string ; pubblicazioni:numeroVolume "77"^^xsd:string . @prefix ns11: . prodotto:ID27704 pubblicazioni:rivista ns11:ID304281 ; skos:note "ISI Web of Science (WOS)"^^xsd:string ; pubblicazioni:affiliazioni "Department of Biomedical Sciences,\u0093G. d\u0092Annunzio\u0094 University, Chieti-Pescara, Italy,\nRCCS-CSS, San Giovanni Rotondo and CSS-Mendel, Rome, Italy,\nAgeing Research Centre, CESI, \u0093G. d\u0092Annunzio\u0094 University Foundation, Chieti-Pescara, Italy,\nDepartment of Pediatrics \u0093G. d\u0092Annunzio\u0094 University, Chieti-Pescara, Italy,\nDepartment of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy,\nChildren\u0092s Hospital, Technical University Dresden, Dresden, Germany, \nIGM CNR, Bologna, Italy\n"^^xsd:string ; pubblicazioni:titolo "Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove)syndrome."^^xsd:string ; prodottidellaricerca:abstract "Triple A or Allgrove syndrome (AS) (MIM 231550) is a rare autosomal recessive disorder of adreno cortico tropic hormone (ACTH) resistant adrenal nsufficiency, achalasia and alacrimia (1). While alacrimia is often present at birth, and if untreated may lead to acute keratopathy and corneal ulcerations (2), achalasia manifests with age with dysphagia and feeding difficulties together with adrenal insufficiency (3, 4). This core phenotype may evolve with progressive neurological degeneration, cutaneous alterations (palmoplantar hyperkeratosis), short stature and osteoporosis (5\u00967), the first cause of death being an undiagnosed \u0091adrenal crisis\u0092. AS is caused by mutations in the AAAS gene (8\u009610), encoding Aladin, a member of the nucleoporin family at the nuclear pore complex (NPC), composed of a central 170-aa domain with four WD repeats (11). Nucleoporins play a crucial role in transport processes between nucleus and cytoplasm, while Aladin interaction with the NPC suggests a role as a structural scaffold (12, 13). No clear genotype\u0096phenotype correlations have been established in AS (14), and lack of AAAS gene mutations in some AS patients suggested genetic heterogeneity (5, 15)." ; prodottidellaricerca:prodottoDi modulo:ID5927 , istituto:CDS040 ; pubblicazioni:autoreCNR unitaDiPersonaleEsterno:ID8267 . ns11:ID304281 pubblicazioni:rivistaDi prodotto:ID27704 .