Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1038/ejhg.2016.202 http://scihub22266oqcxt.onion/10.1038/ejhg.2016.202 C5386422!5386422 !28098151     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28098151 &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 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28098151 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Eur+J+Hum+Genet 2017 ; 25 (4 ): 509-511 Nephropedia Template TP {{tp|p=28098151 |t=2017. Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome |pdf=|usr=}}{{28098151 }} gab.com Text Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=28098151 #FOAvip Gain-of-function variants in some RAS-MAPK pathway genes, including PTPN11 and NRAS, are associated with RASopathies and/or acquired hematological malignancies, most notably juvenile myelomonocytic leukemia (JMML). With rare exceptions, the spectrum of germline variants causing RASopathies does not overlap with the somatic variants identified in isolated JMML. Studies comparing these variants suggest a stronger gain-of-function activity in the JMML variants. As JMML variants have not been identified as germline defects and have a greater impact on protein function, it has been speculated that they would be embryonic lethal. Here we identified three variants, which have previously only been identified in isolated somatic JMML and other sporadic cancers, in four cases with a severe pre- or neo-natal lethal presentation of Noonan syndrome. These cases support the hypothesis that these stronger gain-of-function variants are rarely compatible with life. Twit Text FOAVip Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=28098151 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28098151 #FOAvip English Wikipedia <ref>{{Cite pmid|28098151 }}</ref> Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome #MMPMID28098151 Mason-Suares H ; Toledo D ; Gekas J ; Lafferty KA ; Meeks N ; Pacheco MC ; Sharpe D ; Mullen TE ; Lebo MS Eur J Hum Genet 2017[Apr]; 25 (4 ): 509-511 PMID28098151 show ga Gain-of-function variants in some RAS-MAPK pathway genes, including PTPN11 and NRAS, are associated with RASopathies and/or acquired hematological malignancies, most notably juvenile myelomonocytic leukemia (JMML). With rare exceptions, the spectrum of germline variants causing RASopathies does not overlap with the somatic variants identified in isolated JMML. Studies comparing these variants suggest a stronger gain-of-function activity in the JMML variants. As JMML variants have not been identified as germline defects and have a greater impact on protein function, it has been speculated that they would be embryonic lethal. Here we identified three variants, which have previously only been identified in isolated somatic JMML and other sporadic cancers, in four cases with a severe pre- or neo-natal lethal presentation of Noonan syndrome. These cases support the hypothesis that these stronger gain-of-function variants are rarely compatible with life. |*Germ-Line Mutation [MESH] |Female [MESH] |GTP Phosphohydrolases/*genetics [MESH] |Humans [MESH] |Infant, Newborn [MESH] |Leukemia, Myelomonocytic, Juvenile/*genetics [MESH] |Membrane Proteins/*genetics [MESH] |Noonan Syndrome/diagnosis/*genetics [MESH] |Pregnancy [MESH]Juvenile myelomonocytic leukemia-associated variants are associated wi(epmc).pdf DeepDyve Pubget Overpricing