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10.1002/humu.21239 http://scihub22266oqcxt.onion/10.1002/humu.21239 20232449!2918781!20232449     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 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\20232449.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Hum+Mutat 2010 ; 31 (5): E1319-31 Nephropedia Template TP {{tp|p=20232449|t=2010. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies |pdf=|usr=}}{{20232449}} gab.com Text Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies JO: Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=20232449 #FOAvip Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin. Twit Text FOAVip Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ????Hum Mutat http://www.kidney.de/pget.php?&tw=1&pmid=20232449 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20232449 #FOAvip English Wikipedia <ref>{{Cite pmid|20232449}}</ref> Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies #MMPMID20232449 Iannicelli M; Brancati F; Mougou-Zerelli S; Mazzotta A; Thomas S; Elkhartoufi N; Travaglini L; Gomes C; Ardissino GL; Bertini E; Boltshauser E; Castorina P; D'Arrigo S; Fischetto R; Leroy B; Loget P; Bonniere M; Starck L; Tantau J; Gentilin B; Majore S; Swistun D; Flori E; Lalatta F; Pantaleoni C; Penzien J; Grammatico P; Dallapiccola B; Gleeson JG; Attie-Bitach T; Valente EM Hum Mutat 2010[May]; 31 (5): E1319-31 PMID20232449show ga Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin. |Abnormalities, Multiple/*genetics[MESH] |DNA Mutational Analysis[MESH] |Female[MESH] |Genotype[MESH] |Humans[MESH] |Kidney Diseases, Cystic/*genetics/pathology[MESH] |Liver Cirrhosis/*genetics/pathology[MESH] |Membrane Proteins/*genetics[MESH] |Mutation/*genetics[MESH] |Phenotype[MESH] |Pregnancy[MESH]Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-r(epmc).pdf DeepDyve Pubget Overpricing