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10.1002/humu.21383 http://scihub22266oqcxt.onion/10.1002/humu.21383 C4485435!4485435!20960466     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Mutat 2010 ; 31 (12): 1269-79 Nephropedia Template TP {{tp|p=20960466|t=2010. The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update |pdf=|usr=}}{{20960466}} gab.com Text The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=20960466 #FOAvip Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis. By means of a large collaboration among six centers, we report here a mutation update that includes nine genes and 220 distinct mutations, 56 of which are new. The DBA Mutation Database now includes data from 355 patients. Of those where inheritance has been examined, 125 patients carry a de novo mutation and 72 an inherited mutation. Mutagenesis may be ascribed to slippage in 65.5% of indels, whereas CpG dinucleotides are involved in 23% of transitions. Using bioinformatic tools we show that gene conversion mechanism is not common in RP genes mutagenesis, notwithstanding the abundance of RP pseudogenes. Genotype?phenotype analysis reveals that malformations are more frequently associated with mutations in RPL5 and RPL11 than in the other genes. All currently reported DBA mutations together with their functional and clinical data are included in the DBA Mutation Database. Twit Text FOAVip The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=20960466 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20960466 #FOAvip English Wikipedia <ref>{{Cite pmid|20960466}}</ref> The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update #MMPMID20960466 Boria I; Garelli E; Gazda HT; Aspesi A; Quarello P; Pavesi E; Ferrante D; Meerpohl JJ; Kartal M; Da Costa L; Proust A; Leblanc T; Simansour M; Dahl N; Fröjmark AS; Pospisilova D; Cmejla R; Beggs AH; Sheen MR; Landowski M; Buros CM; Clinton CM; Dobson LJ; Vlachos A; Atsidaftos E; Lipton JM; Ellis SR; Ramenghi U; Dianzani I Hum Mutat 2010[Dec]; 31 (12): 1269-79 PMID20960466show ga Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis. By means of a large collaboration among six centers, we report here a mutation update that includes nine genes and 220 distinct mutations, 56 of which are new. The DBA Mutation Database now includes data from 355 patients. Of those where inheritance has been examined, 125 patients carry a de novo mutation and 72 an inherited mutation. Mutagenesis may be ascribed to slippage in 65.5% of indels, whereas CpG dinucleotides are involved in 23% of transitions. Using bioinformatic tools we show that gene conversion mechanism is not common in RP genes mutagenesis, notwithstanding the abundance of RP pseudogenes. Genotype?phenotype analysis reveals that malformations are more frequently associated with mutations in RPL5 and RPL11 than in the other genes. All currently reported DBA mutations together with their functional and clinical data are included in the DBA Mutation Database. äThe Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database (epmc).pdf DeepDyve Pubget Overpricing