A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate (Articolo in rivista)

Type

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

Label

• A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate (Articolo in rivista) (literal)

Anno

• 2007-01-01T00:00:00+01:00 (literal)

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

• 10.1111/j.1399-0004.2007.00817.x (literal)

Alternative label

• Abidi F.E.; Miano M.G.; Murray J.C.; Schwartz C.E. (2007)
  A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
  in Clinical genetics
  (literal)

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

• Abidi F.E.; Miano M.G.; Murray J.C.; Schwartz C.E. (literal)

Pagina inizio

• 19 (literal)

Pagina fine

• 22 (literal)

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

• 72 (literal)

Rivista

• Clinical genetics (Rivista)

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

• 1 (literal)

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

• Pubblicazione (literal)

Note

• ISI Web of Science (WOS) (literal)

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

• Center for Molecular Studies, J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA, Human Molecular Genetics Laboratory, Institute of Genetics and Biophysics, CNR, Naples, Italy, Department of Pediatrics, University of Iowa, Iowa City, IA, USA (literal)

Titolo

• A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate (literal)

Abstract

• Recently, two truncating mutations in the PHF8 (plant homeodomain finger protein 8) gene have been found to cause X-linked mental retardation associated with cleft lip/cleft palate (CL/P). One of the truncating mutations was found in the original family with Siderius-Hamel CL/P syndrome where only two of the three affected individuals had mental retardation (MR) with CL/P and one individual had mild MR. The second mutation was present in a family with four affected men, three of whom had MR and CL/P, while the fourth individual had mild MR without clefting. Here, we report a novel nonsense mutation (p.K177X) in a male patient who has MR associated with CL/P. The mutation results in a truncated PHF8 protein lacking the Jumonji-like C terminus domain and five nuclear localization signals. Our finding further supports the hypothesis that the PHF8 protein may play an important role in cognitive function and midline formation. (literal)

Prodotto di

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)
• TERMINA 2010: Analisi trascrittomica della tumorigenesi (PM.P01.017.007) (Modulo)

Autore CNR

• MARIA GIUSEPPINA MIANO (Persona)

Insieme di parole chiave

• Keywords of "A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• MARIA GIUSEPPINA MIANO (Persona)

Prodotto

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• TERMINA 2010: Analisi trascrittomica della tumorigenesi (PM.P01.017.007) (Modulo)
• Variabilità del genoma ed alterazioni genetiche nell'uomo e loro impatto biologico - (SV.P13.004.001) (Modulo)

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

• Clinical genetics (Rivista)

Insieme di parole chiave di

• Keywords of "A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate" (Insieme di parole chiave)