The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
Metabolic profiling of Costello syndrome: Insights from a single-center cohort
Eur J Med Genet. 2022 Jan 28:104439. doi: 10.1016/j.ejmg.2022.104439. Online ahead of print.ABSTRACTCostello syndrome (CS) is a rare disorder caused by activating dominantly acting germline variants in the HRAS gene. CS is defined by a clinical phenotype characterized by a distinctive gestalt, multiple congenital anomalies, and increased risk to develop tumors. Hypoglycemia and hypercholesterolemia have been reported to occur in affected individuals, but the underlying molecular events remain to be characterized. Here, we provided data on glucose/lipid metabolism and amino acid profile of a large single-center cohort of in...
Source: European Journal of Medical Genetics - February 1, 2022 Category: Genetics & Stem Cells Authors: Chiara Leoni Miriam Massese Jacopo Gervasoni Aniello Primiano Valentina Giorgio Roberta Onesimo Eliza Kuczynska Donato Rigante Silvia Persichilli Giovanna Carpentieri Elisabetta Flex Roberta Pastorino Marco Tartaglia Giuseppe Zampino Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
Metabolic profiling of Costello syndrome: Insights from a single-center cohort
Eur J Med Genet. 2022 Jan 29;65(3):104439. doi: 10.1016/j.ejmg.2022.104439. Online ahead of print.ABSTRACTCostello syndrome (CS) is a rare disorder caused by activating dominantly acting germline variants in the HRAS gene. CS is defined by a clinical phenotype characterized by a distinctive gestalt, multiple congenital anomalies, and increased risk to develop tumors. Hypoglycemia and hypercholesterolemia have been reported to occur in affected individuals, but the underlying molecular events remain to be characterized. Here, we provided data on glucose/lipid metabolism and amino acid profile of a large single-center cohort...
Source: European Journal of Medical Genetics - February 1, 2022 Category: Genetics & Stem Cells Authors: Chiara Leoni Miriam Massese Jacopo Gervasoni Aniello Primiano Valentina Giorgio Roberta Onesimo Eliza Kuczynska Donato Rigante Silvia Persichilli Giovanna Carpentieri Elisabetta Flex Roberta Pastorino Marco Tartaglia Giuseppe Zampino Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
Metabolic profiling of Costello syndrome: Insights from a single-center cohort
Eur J Med Genet. 2022 Jan 29;65(3):104439. doi: 10.1016/j.ejmg.2022.104439. Online ahead of print.ABSTRACTCostello syndrome (CS) is a rare disorder caused by activating dominantly acting germline variants in the HRAS gene. CS is defined by a clinical phenotype characterized by a distinctive gestalt, multiple congenital anomalies, and increased risk to develop tumors. Hypoglycemia and hypercholesterolemia have been reported to occur in affected individuals, but the underlying molecular events remain to be characterized. Here, we provided data on glucose/lipid metabolism and amino acid profile of a large single-center cohort...
Source: European Journal of Medical Genetics - February 1, 2022 Category: Genetics & Stem Cells Authors: Chiara Leoni Miriam Massese Jacopo Gervasoni Aniello Primiano Valentina Giorgio Roberta Onesimo Eliza Kuczynska Donato Rigante Silvia Persichilli Giovanna Carpentieri Elisabetta Flex Roberta Pastorino Marco Tartaglia Giuseppe Zampino Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
The RASopathies: Biology, genetics and therapeutic options
Adv Cancer Res. 2022;153:305-341. doi: 10.1016/bs.acr.2021.07.007. Epub 2021 Aug 7.ABSTRACTThe RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and...
Source: Advances in Cancer Research - February 1, 2022 Category: Cancer & Oncology Authors: Jody Fromm Longo Steven L Carroll Source Type: research
