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10.1007/s00439-013-1297-0 http://scihub22266oqcxt.onion/10.1007/s00439-013-1297-0 C4643834!4643834 !23559409     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=23559409 &cmd=llinks): Failed to open stream: HTTP request failed! 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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy |pdf=|usr=}}{{23559409 }} gab.com Text Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy JO: Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=23559409 #FOAvip Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only 40 % of all cases. High-throughput mutation screenings of large patient cohorts represent a powerful tool for diagnostics and identification of novel NPHP genes. We here performed a new high-throughput mutation analysis method to study 13 established NPHP genes (NPHP1-NPHP13) in a worldwide cohort of 1,056 patients diagnosed with NPHP-RC. We first applied multiplexed PCR-based amplification using Fluidigm Access-Array? technology followed by barcoding and next-generation resequencing on an Illumina platform. As a result, we established the molecular diagnosis in 127/1,056 independent individuals (12.0 %) and identified a single heterozygous truncating mutation in an additional 31 individuals (2.9 %). Altogether, we detected 159 different mutations in 11 out of 13 different NPHP genes, 99 of which were novel. Phenotypically most remarkable were two patients with truncating mutations in INVS/NPHP2 who did not present as infants and did not exhibit extrarenal manifestations. In addition, we present the first case of Caroli disease due to mutations in WDR19/NPHP13 and the second case ever with a recessive mutation in GLIS2/NPHP7. This study represents the most comprehensive mutation analysis in NPHP-RC patients, identifying the largest number of novel mutations in a single study worldwide. Twit Text FOAVip Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy ????Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=23559409 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23559409 #FOAvip English Wikipedia <ref>{{Cite pmid|23559409 }}</ref> Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy #MMPMID23559409 Halbritter J ; Porath JD ; Diaz KA ; Braun DA ; Kohl S ; Chaki M ; Allen SJ ; Soliman NA ; Hildebrandt F ; Otto EA Hum Genet 2013[Aug]; 132 (8 ): 865-84 PMID23559409 show ga Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only 40 % of all cases. High-throughput mutation screenings of large patient cohorts represent a powerful tool for diagnostics and identification of novel NPHP genes. We here performed a new high-throughput mutation analysis method to study 13 established NPHP genes (NPHP1-NPHP13) in a worldwide cohort of 1,056 patients diagnosed with NPHP-RC. We first applied multiplexed PCR-based amplification using Fluidigm Access-Array? technology followed by barcoding and next-generation resequencing on an Illumina platform. As a result, we established the molecular diagnosis in 127/1,056 independent individuals (12.0 %) and identified a single heterozygous truncating mutation in an additional 31 individuals (2.9 %). Altogether, we detected 159 different mutations in 11 out of 13 different NPHP genes, 99 of which were novel. Phenotypically most remarkable were two patients with truncating mutations in INVS/NPHP2 who did not present as infants and did not exhibit extrarenal manifestations. In addition, we present the first case of Caroli disease due to mutations in WDR19/NPHP13 and the second case ever with a recessive mutation in GLIS2/NPHP7. This study represents the most comprehensive mutation analysis in NPHP-RC patients, identifying the largest number of novel mutations in a single study worldwide. |Adaptor Proteins, Signal Transducing/genetics [MESH] |Caroli Disease/*genetics/pathology [MESH] |Cilia/*genetics/*pathology [MESH] |Cohort Studies [MESH] |Cytoskeletal Proteins [MESH] |DNA Mutational Analysis [MESH] |Female [MESH] |Genes, Recessive/*genetics [MESH] |Global Health [MESH] |High-Throughput Nucleotide Sequencing [MESH] |Humans [MESH] |Kidney Diseases, Cystic/*genetics/pathology [MESH] |Male [MESH] |Membrane Proteins/*genetics [MESH] |Multiplex Polymerase Chain Reaction [MESH] |Mutation/*genetics [MESH] |Pedigree [MESH]Identification of 99 novel mutations in a worldwide cohort of 1,056 pa(epmc).pdf DeepDyve Pubget Overpricing