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10.1182/blood-2014-08-591370 http://scihub22266oqcxt.onion/10.1182/blood-2014-08-591370 C4215314!4215314 !25193871     free     free     free Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 261.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 261.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 261.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 261.2 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\25193871 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Blood 2014 ; 124 (18 ): 2867-71 Nephropedia Template TP {{tp|p=25193871 |t=2014. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) |pdf=|usr=}}{{25193871 }} gab.com Text Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) JO: Blood http://www.kidney.de/pget.php?&tw=1&pmid=25193871 #FOAvip Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Here we demonstrate that SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs. Using budding yeast lacking the TRNT1 homolog, CCA1, we confirm that the patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy. Twit Text FOAVip Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) ????Blood http://www.kidney.de/pget.php?&tw=1&pmid=25193871 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25193871 #FOAvip English Wikipedia <ref>{{Cite pmid|25193871 }}</ref> Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) #MMPMID25193871 Chakraborty PK ; Schmitz-Abe K ; Kennedy EK ; Mamady H ; Naas T ; Durie D ; Campagna DR ; Lau A ; Sendamarai AK ; Wiseman DH ; May A ; Jolles S ; Connor P ; Powell C ; Heeney MM ; Giardina PJ ; Klaassen RJ ; Kannengiesser C ; Thuret I ; Thompson AA ; Marques L ; Hughes S ; Bonney DK ; Bottomley SS ; Wynn RF ; Laxer RM ; Minniti CP ; Moppett J ; Bordon V ; Geraghty M ; Joyce PB ; Markianos K ; Rudner AD ; Holcik M ; Fleming MD Blood 2014[Oct]; 124 (18 ): 2867-71 PMID25193871 show ga Mutations in genes encoding proteins that are involved in mitochondrial heme synthesis, iron-sulfur cluster biogenesis, and mitochondrial protein synthesis have previously been implicated in the pathogenesis of the congenital sideroblastic anemias (CSAs). We recently described a syndromic form of CSA associated with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Here we demonstrate that SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs. Using budding yeast lacking the TRNT1 homolog, CCA1, we confirm that the patient-associated TRNT1 mutations result in partial loss of function of TRNT1 and lead to metabolic defects in both the mitochondria and cytosol, which can account for the phenotypic pleiotropy. |Alleles [MESH] |Anemia, Sideroblastic/complications/*congenital/enzymology/*genetics [MESH] |Developmental Disabilities/*complications/genetics [MESH] |Fever/*complications/genetics [MESH] |Genetic Diseases, X-Linked/complications/enzymology/*genetics [MESH] |HEK293 Cells [MESH] |Humans [MESH] |Immunologic Deficiency Syndromes/*complications/genetics [MESH] |Mutation/*genetics [MESH]Mutations in TRNT1 cause congenital sideroblastic anemia with immunode(epmc).pdf DeepDyve Pubget Overpricing