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10.4149/endo_2013_04_217 http://scihub22266oqcxt.onion/10.4149/endo_2013_04_217 24156711!ä!24156711 Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=24156711&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Endocr+Regul 2013 ; 47 (4): 217-22 Nephropedia Template TP {{tp|p=24156711|t=2013. Rasopathies - dysmorphic syndromes with short stature and risk of malignancy |pdf=|usr=}}{{24156711}} gab.com Text Rasopathies - dysmorphic syndromes with short stature and risk of malignancy JO: Endocr Regul http://www.kidney.de/pget.php?&tw=1&pmid=24156711 #FOAvip OBJECTIVES: The term Rasopathies represents a group of five neurodevelopmental syndromes (Noonan, LEOPARD, Costello, Cardio-facio-cutaneous, and Neurofibromatose-Noonan syndrome) caused by germline mutation in genes encoding proteins involved in RAS/MAPK (rat sarcoma/mitogen-activated protein kinase) signaling pathway. The RAS/MAPK signaling pathway participates in regulation of cell determination, proliferation, differentiation, migration, and senescence and dysregulation of this pathway can lead to the risk of tumorigenesis. In this review, we aim to summarize the current clinical and molecular genetic knowledge on Rasopathies with special attention for the risk of cancer. We propose also clinical and therapeutic approach for patients with malignancy. METHODS: We are reviewing the clinical and molecular basis of Rasopathies based on recent studies, clinical examination, and molecular diagnostics (mutation analysis of causal genes for Rasopathies) in Slovak pediatric patients. RESULTS: Some clinical features, such as short stature, a specific facial dysmorphology and cardiac abnormalities are common to all of Rasopathy syndromes. However, there are unique signs by which the syndromes can differ from each other, especially multiple lentigo in LEOPARD syndrome, increased risk of malignancy in Costello syndrome, dry hyperkeratotic skin in patients with cardio-facio-cutaneous syndrome, and neurofibromas and cafe-au-lait spots in neurofibromatosis-Noonan syndrome. CONCLUSION: Despite the overlapping clinical features, Rasopathy syndromes exhibit unique fenotypical features and the precise molecular diagnostics may lead to confirmation of each syndrome. The molecular diagnostics may allow the detection of pathogenic mutation associated with tumorigenesis. Twit Text FOAVip Rasopathies - dysmorphic syndromes with short stature and risk of malignancy ????Endocr Regul http://www.kidney.de/pget.php?&tw=1&pmid=24156711 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24156711 #FOAvip English Wikipedia <ref>{{Cite pmid|24156711}}</ref> Rasopathies - dysmorphic syndromes with short stature and risk of malignancy #MMPMID24156711 Cizmarova M; Kostalova L; Pribilincova Z; Lasabova Z; Hlavata A; Kovacs L; Ilencikova D Endocr Regul 2013[Oct]; 47 (4): 217-22 PMID24156711show ga OBJECTIVES: The term Rasopathies represents a group of five neurodevelopmental syndromes (Noonan, LEOPARD, Costello, Cardio-facio-cutaneous, and Neurofibromatose-Noonan syndrome) caused by germline mutation in genes encoding proteins involved in RAS/MAPK (rat sarcoma/mitogen-activated protein kinase) signaling pathway. The RAS/MAPK signaling pathway participates in regulation of cell determination, proliferation, differentiation, migration, and senescence and dysregulation of this pathway can lead to the risk of tumorigenesis. In this review, we aim to summarize the current clinical and molecular genetic knowledge on Rasopathies with special attention for the risk of cancer. We propose also clinical and therapeutic approach for patients with malignancy. METHODS: We are reviewing the clinical and molecular basis of Rasopathies based on recent studies, clinical examination, and molecular diagnostics (mutation analysis of causal genes for Rasopathies) in Slovak pediatric patients. RESULTS: Some clinical features, such as short stature, a specific facial dysmorphology and cardiac abnormalities are common to all of Rasopathy syndromes. However, there are unique signs by which the syndromes can differ from each other, especially multiple lentigo in LEOPARD syndrome, increased risk of malignancy in Costello syndrome, dry hyperkeratotic skin in patients with cardio-facio-cutaneous syndrome, and neurofibromas and cafe-au-lait spots in neurofibromatosis-Noonan syndrome. CONCLUSION: Despite the overlapping clinical features, Rasopathy syndromes exhibit unique fenotypical features and the precise molecular diagnostics may lead to confirmation of each syndrome. The molecular diagnostics may allow the detection of pathogenic mutation associated with tumorigenesis. |Body Height/genetics[MESH] |Costello Syndrome/epidemiology/*genetics/metabolism[MESH] |Ectodermal Dysplasia/epidemiology/*genetics/metabolism[MESH] |Facies[MESH] |Failure to Thrive/epidemiology/*genetics/metabolism[MESH] |Heart Defects, Congenital/epidemiology/*genetics/metabolism[MESH] |Humans[MESH] |MAP Kinase Signaling System/genetics[MESH] |Neoplasms/epidemiology/*genetics/metabolism[MESH] |Neurofibromatoses/epidemiology/*genetics/metabolism[MESH] |Noonan Syndrome/epidemiology/*genetics/metabolism[MESH] |Risk Factors[MESH]Rasopathies - dysmorphic syndromes with short stature and risk of mali(epmc).pdf DeepDyve Pubget Overpricing