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10.1111/j.1399-0004.2010.01495.x http://scihub22266oqcxt.onion/10.1111/j.1399-0004.2010.01495.x 20735442!ä!20735442 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Clin+Genet 2011 ; 79 (5): 468-74 Nephropedia Template TP {{tp|p=20735442|t=2011. Germline mutation in BRAF codon 600 is compatible with human development: de novo p V600G mutation identified in a patient with CFC syndrome |pdf=|usr=}}{{20735442}} gab.com Text Germline mutation in BRAF codon 600 is compatible with human development: de novo p V600G mutation identified in a patient with CFC syndrome JO: Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=20735442 #FOAvip BRAF, the protein product of BRAF, is a serine/threonine protein kinase and one of the direct downstream effectors of Ras. Somatic mutations in BRAF occur in numerous human cancers, whereas germline BRAF mutations cause cardio-facio-cutaneous (CFC) syndrome. One recurrent somatic mutation, p.V600E, is frequently found in several tumor types, such as melanoma, papillary thyroid carcinoma, colon cancer, and ovarian cancer. However, a germline mutation affecting codon 600 has never been described. Here, we present a patient with CFC syndrome and a de novo germline mutation involving codon 600 of BRAF, thus providing the first evidence that a pathogenic germline mutation involving this critical codon is not only compatible with development but can also cause the CFC phenotype. In vitro functional analysis shows that this mutation, which replaces a valine with a glycine at codon 600 (p.V600G), leads to increased ERK and ELK phosphorylation compared to wild-type BRAF but is less strongly activating than the cancer-associated p.V600E mutation. Twit Text FOAVip Germline mutation in BRAF codon 600 is compatible with human development: de novo p V600G mutation identified in a patient with CFC syndrome ????Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=20735442 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20735442 #FOAvip English Wikipedia <ref>{{Cite pmid|20735442}}</ref> Germline mutation in BRAF codon 600 is compatible with human development: de novo p V600G mutation identified in a patient with CFC syndrome #MMPMID20735442 Champion KJ; Bunag C; Estep AL; Jones JR; Bolt CH; Rogers RC; Rauen KA; Everman DB Clin Genet 2011[May]; 79 (5): 468-74 PMID20735442show ga BRAF, the protein product of BRAF, is a serine/threonine protein kinase and one of the direct downstream effectors of Ras. Somatic mutations in BRAF occur in numerous human cancers, whereas germline BRAF mutations cause cardio-facio-cutaneous (CFC) syndrome. One recurrent somatic mutation, p.V600E, is frequently found in several tumor types, such as melanoma, papillary thyroid carcinoma, colon cancer, and ovarian cancer. However, a germline mutation affecting codon 600 has never been described. Here, we present a patient with CFC syndrome and a de novo germline mutation involving codon 600 of BRAF, thus providing the first evidence that a pathogenic germline mutation involving this critical codon is not only compatible with development but can also cause the CFC phenotype. In vitro functional analysis shows that this mutation, which replaces a valine with a glycine at codon 600 (p.V600G), leads to increased ERK and ELK phosphorylation compared to wild-type BRAF but is less strongly activating than the cancer-associated p.V600E mutation. |*Germ-Line Mutation[MESH] |Adult[MESH] |Base Sequence[MESH] |Child, Preschool[MESH] |Codon/*genetics[MESH] |Ectodermal Dysplasia/genetics[MESH] |Extracellular Signal-Regulated MAP Kinases/genetics[MESH] |Face[MESH] |Facies[MESH] |Failure to Thrive/genetics[MESH] |Female[MESH] |Genotype[MESH] |Heart Defects, Congenital/genetics[MESH] |Humans[MESH] |Male[MESH] |Molecular Sequence Data[MESH] |Phenotype[MESH]Germline mutation in BRAF codon 600 is compatible with human developme(epmc).pdf DeepDyve Pubget Overpricing