Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 6 of 6 for “"Noonan Syndrome"”.
-
Clinical and genetic studies in Noonan syndrome
Contains fulltext : 147092.pdf (Publisher’s version ) (Open Access)
-
Genetic investigation of South Africans with the Noonan Syndrome phenotype using targeted next generation sequencing
Introduction: Noonan Syndrome (NS) is an autosomal dominant multisystem disorder, characterised by short stature, distinctive facial dysmorphism, cardiovascular abnormalities and developmental delay. Its estimated incidence is 1:1000 to 1:2500 live births. NS is caused by germline mutations in more …
-
Molecular Mechanisms Regulating Fate Determination of Cerebral Cortex Precursors
… integrate conflicting environmental cues. A Noonan Syndrome (NS)-associated activated SHP-2 mutation causes perturbations in neural cell genesis, which may contribute to the mild mental retardation and learning disabilities observed in NS patients. In the second part of this thesis, a novel …
-
Signalling mechanisms of the tyrosine phosphatase SHP2 upstream of Ras
… commonly mutated protein in RASopathies such as Noonan syndrome. SHP2 is therefore an important therapeutic target, with allosteric inhibitors ‘locking’ SHP2 in its autoinhibited state currently in clinical trials. However, the efficacy of such allosteric inhibitors is significantly reduced by …
-
Aberrant Ras/MAPK signaling in skeletal development
… this pathway during development and have modeled syndromes, such as Noonan Syndrome (NS), that are caused by aberrant germline Ras/MAPK signaling. One hallmark of these developmental syndromes is a defect in the skeletal development of the patients. However, the in vivo role of MAPK signaling …
-
Funktionelle Untersuchungen zum PTPN11-Genprodukt SHP2 und zu PTPN11 Mutanten, die dem Noonan-Syndrom zugrunde liegen
Das Noonan-Syndrom (NS) [OMIM 163950] ist ein komplexes Fehlbildungssyndrom, das durch ein charakteristisches Gesicht mit Hypertelorismus und Ptosis, großen und tief sitzenden Ohren, Kleinwuchs, leichter geistiger Behinderung, Kryptorchismus und verschiedene Herzfehlbildungen (vor allem …