Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove)syndrome. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove)syndrome. (Articolo in rivista) (literal)

Anno

• 2010-01-01T00:00:00+01:00 (literal)

Alternative label

• 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
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#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. (literal)

Pagina inizio

• 298 (literal)

Pagina fine

• 301 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 77 (literal)

Rivista

• Clinical genetics (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Department of Biomedical Sciences,“G. d’Annunzio” University, Chieti-Pescara, Italy, RCCS-CSS, San Giovanni Rotondo and CSS-Mendel, Rome, Italy, Ageing Research Centre, CESI, “G. d’Annunzio” University Foundation, Chieti-Pescara, Italy, Department of Pediatrics “G. d’Annunzio” University, Chieti-Pescara, Italy, Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy, Children’s Hospital, Technical University Dresden, Dresden, Germany, IGM CNR, Bologna, Italy (literal)

Titolo

• Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove)syndrome. (literal)

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 (5–7), the first cause of death being an undiagnosed ‘adrenal crisis’. AS is caused by mutations in the AAAS gene (8–10), 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–phenotype correlations have been established in AS (14), and lack of AAAS gene mutations in some AS patients suggested genetic heterogeneity (5, 15). (literal)

Prodotto di

• Patogenesi delle malattie degenerative muscolo-scheletriche (ME.P05.014.001) (Modulo)
• Institute of molecular genetics (IGM) (Istituto)

Autore CNR

• LIBORIO STUPPIA (Unità di personale esterno)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Patogenesi delle malattie degenerative muscolo-scheletriche (ME.P05.014.001) (Modulo)

Autore CNR di

• LIBORIO STUPPIA (Unità di personale esterno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Clinical genetics (Rivista)