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10.1016/j.bbabio.2018.05.003 http://scihub22266oqcxt.onion/10.1016/j.bbabio.2018.05.003 29750912!ä!29750912 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Biochim+Biophys+Acta+Bioenerg 2018 ; 1859 (9): 845-867 Nephropedia Template TP {{tp|p=29750912|t=2018. RAS signalling in energy metabolism and rare human diseases |pdf=|usr=}}{{29750912}} gab.com Text RAS signalling in energy metabolism and rare human diseases JO: Biochim Biophys Acta Bioenerg http://www.kidney.de/pget.php?&tw=1&pmid=29750912 #FOAvip The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies. Individuals with RASopathies, which are estimated to affect approximately 1/1000 human birth, share many overlapping characteristics, including cardiac malformations, short stature, neurocognitive impairment, craniofacial dysmorphy, cutaneous, musculoskeletal, and ocular abnormalities, hypotonia and a predisposition to developing cancer. Since the identification of the first RASopathy, type 1 neurofibromatosis (NF1), which is caused by the inactivation of neurofibromin 1, several other syndromes have been associated with mutations in the core components of the RAS-MAPK pathway. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML), which was formerly called LEOPARD syndrome, Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). Here, we review current knowledge about the bioenergetics of the RASopathies and discuss the molecular control of energy homeostasis and mitochondrial physiology by the RAS pathway. Twit Text FOAVip RAS signalling in energy metabolism and rare human diseases ????Biochim Biophys Acta Bioenerg http://www.kidney.de/pget.php?&tw=1&pmid=29750912 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29750912 #FOAvip English Wikipedia <ref>{{Cite pmid|29750912}}</ref> RAS signalling in energy metabolism and rare human diseases #MMPMID29750912 Dard L; Bellance N; Lacombe D; Rossignol R Biochim Biophys Acta Bioenerg 2018[Sep]; 1859 (9): 845-867 PMID29750912show ga The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies. Individuals with RASopathies, which are estimated to affect approximately 1/1000 human birth, share many overlapping characteristics, including cardiac malformations, short stature, neurocognitive impairment, craniofacial dysmorphy, cutaneous, musculoskeletal, and ocular abnormalities, hypotonia and a predisposition to developing cancer. Since the identification of the first RASopathy, type 1 neurofibromatosis (NF1), which is caused by the inactivation of neurofibromin 1, several other syndromes have been associated with mutations in the core components of the RAS-MAPK pathway. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML), which was formerly called LEOPARD syndrome, Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). Here, we review current knowledge about the bioenergetics of the RASopathies and discuss the molecular control of energy homeostasis and mitochondrial physiology by the RAS pathway. |*Energy Metabolism[MESH] |*Signal Transduction[MESH] |Humans[MESH] |Rare Diseases/*physiopathology[MESH]RAS signalling in energy metabolism and rare human diseases (epmc).pdf DeepDyve Pubget Overpricing