UNIVERSI
TÄ
TS-
BIBLIOTHEK
P
ADERBORN
Anmelden
Menü
Menü
Start
Hilfe
Blog
Weitere Dienste
Neuerwerbungslisten
Fachsystematik Bücher
Erwerbungsvorschlag
Bestellung aus dem Magazin
Fernleihe
Einstellungen
Sprache
Deutsch
Deutsch
Englisch
Farbschema
Hell
Dunkel
Automatisch
Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist
gegebenenfalls
nur via VPN oder Shibboleth (DFN-AAI) möglich.
mehr Informationen...
Universitätsbibliothek
Katalog
Suche
Details
Zur Ergebnisliste
Ergebnis 15 von 43
Datensatz exportieren als...
BibTeX
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
Human mutation, 2011-07, Vol.32 (7), p.760-772
Lepri, Francesca
De Luca, Alessandro
Stella, Lorenzo
Rossi, Cesare
Baldassarre, Giuseppina
Pantaleoni, Francesca
Cordeddu, Viviana
Williams, Bradley J.
Dentici, Maria L.
Caputo, Viviana
Venanzi, Serenella
Bonaguro, Michela
Kavamura, Ines
Faienza, Maria F.
Pilotta, Alba
Stanzial, Franco
Faravelli, Francesca
Gabrielli, Orazio
Marino, Bruno
Neri, Giovanni
Silengo, Margherita Cirillo
Ferrero, Giovanni B.
Torrrente, Isabella
Selicorni, Angelo
Mazzanti, Laura
Digilio, Maria C.
Zampino, Giuseppe
Dallapiccola, Bruno
Gelb, Bruce D.
Tartaglia, Marco
2011
Details
Autor(en) / Beteiligte
Lepri, Francesca
De Luca, Alessandro
Stella, Lorenzo
Rossi, Cesare
Baldassarre, Giuseppina
Pantaleoni, Francesca
Cordeddu, Viviana
Williams, Bradley J.
Dentici, Maria L.
Caputo, Viviana
Venanzi, Serenella
Bonaguro, Michela
Kavamura, Ines
Faienza, Maria F.
Pilotta, Alba
Stanzial, Franco
Faravelli, Francesca
Gabrielli, Orazio
Marino, Bruno
Neri, Giovanni
Silengo, Margherita Cirillo
Ferrero, Giovanni B.
Torrrente, Isabella
Selicorni, Angelo
Mazzanti, Laura
Digilio, Maria C.
Zampino, Giuseppe
Dallapiccola, Bruno
Gelb, Bruce D.
Tartaglia, Marco
Titel
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
Ist Teil von
Human mutation, 2011-07, Vol.32 (7), p.760-772
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2011
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS‐MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others identified SOS1 as a major gene underlying NS. Here, we explored further the spectrum of SOS1 mutations and their associated phenotypic features. Mutation scanning of the entire SOS1 coding sequence allowed the identification of 33 different variants deemed to be of pathological significance, including 16 novel missense changes and in‐frame indels. Various mutation clusters destabilizing or altering orientation of regions of the protein predicted to contribute structurally to the maintenance of autoinhibition were identified. Two previously unappreciated clusters predicted to enhance SOS1's recruitment to the plasma membrane, thus promoting a spatial reorientation of domains contributing to inhibition, were also recognized. Genotype–phenotype analysis confirmed our previous observations, establishing a high frequency of ectodermal anomalies and a low prevalence of cognitive impairment and reduced growth. Finally, mutation analysis performed on cohorts of individuals with nonsyndromic pulmonic stenosis, atrial septal defects, and ventricular septal defects excluded a major contribution of germline SOS1 lesions to the isolated occurrence of these cardiac anomalies. Hum Mutat 32:760–772, 2011. © 2011 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1059-7794, 1098-1004
eISSN: 1098-1004
DOI: 10.1002/humu.21492
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3118925
Format
–
Schlagworte
Adolescent
,
Adult
,
Child
,
Cognitive ability
,
Development
,
Exons
,
Female
,
Genetic Association Studies
,
genotype-phenotype correlations
,
Heart
,
Heart Septal Defects, Atrial - genetics
,
Heart Septal Defects, Ventricular - genetics
,
Humans
,
INDEL Mutation - genetics
,
Introns
,
Male
,
Mitogen-Activated Protein Kinase Kinases - genetics
,
Mutation
,
mutation analysis
,
Mutation, Missense - genetics
,
Noonan syndrome
,
Noonan Syndrome - diagnosis
,
Noonan Syndrome - genetics
,
Plasma membranes
,
Protein Conformation
,
Pulmonary Valve Stenosis - genetics
,
Recruitment
,
Scanning
,
SOS1
,
SOS1 Protein - chemistry
,
SOS1 Protein - genetics
,
Stenosis
,
structural analysis
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX