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10.1016/j.ajhg.2015.02.011 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2015.02.011 C4385181!4385181 !25817018     free     free     free 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 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\25817018 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Hum+Genet 2015 ; 96 (4 ): 666-74 Nephropedia Template TP {{tp|p=25817018 |t=2015. Mutations in TUBGCP4 alter microtubule organization via the ?-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy |pdf=|usr=}}{{25817018 }} gab.com Text Mutations in TUBGCP4 alter microtubule organization via the -tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25817018 #FOAvip We have identified TUBGCP4 variants in individuals with autosomal-recessive microcephaly and chorioretinopathy. Whole-exome sequencing performed on one family with two affected siblings and independently on another family with one affected child revealed compound-heterozygous mutations in TUBGCP4. Subsequent Sanger sequencing was performed on a panel of individuals from 12 French families affected by microcephaly and ophthalmic manifestations, and one other individual was identified with compound-heterozygous mutations in TUBGCP4. One synonymous variant was common to all three families and was shown to induce exon skipping; the other mutations were frameshift mutations and a deletion. TUBGCP4 encodes ?-tubulin complex protein 4, a component belonging to the ?-tubulin ring complex (?-TuRC) and known to regulate the nucleation and organization of microtubules. Functional analysis of individual fibroblasts disclosed reduced levels of the ?-TuRC, altered nucleation and organization of microtubules, abnormal nuclear shape, and aneuploidy. Moreover, zebrafish treated with morpholinos against tubgcp4 were found to have reduced head volume and eye developmental anomalies with chorioretinal dysplasia. In summary, the identification of TUBGCP4 mutations in individuals with microcephaly and a spectrum of anomalies in eye development, particularly photoreceptor anomalies, provides evidence of an important role for the ?-TuRC in brain and eye development. Twit Text FOAVip Mutations in TUBGCP4 alter microtubule organization via the -tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25817018 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25817018 #FOAvip English Wikipedia <ref>{{Cite pmid|25817018 }}</ref> Mutations in TUBGCP4 alter microtubule organization via the ?-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy #MMPMID25817018 Scheidecker S ; Etard C ; Haren L ; Stoetzel C ; Hull S ; Arno G ; Plagnol V ; Drunat S ; Passemard S ; Toutain A ; Obringer C ; Koob M ; Geoffroy V ; Marion V ; Strähle U ; Ostergaard P ; Verloes A ; Merdes A ; Moore AT ; Dollfus H Am J Hum Genet 2015[Apr]; 96 (4 ): 666-74 PMID25817018 show ga We have identified TUBGCP4 variants in individuals with autosomal-recessive microcephaly and chorioretinopathy. Whole-exome sequencing performed on one family with two affected siblings and independently on another family with one affected child revealed compound-heterozygous mutations in TUBGCP4. Subsequent Sanger sequencing was performed on a panel of individuals from 12 French families affected by microcephaly and ophthalmic manifestations, and one other individual was identified with compound-heterozygous mutations in TUBGCP4. One synonymous variant was common to all three families and was shown to induce exon skipping; the other mutations were frameshift mutations and a deletion. TUBGCP4 encodes ?-tubulin complex protein 4, a component belonging to the ?-tubulin ring complex (?-TuRC) and known to regulate the nucleation and organization of microtubules. Functional analysis of individual fibroblasts disclosed reduced levels of the ?-TuRC, altered nucleation and organization of microtubules, abnormal nuclear shape, and aneuploidy. Moreover, zebrafish treated with morpholinos against tubgcp4 were found to have reduced head volume and eye developmental anomalies with chorioretinal dysplasia. In summary, the identification of TUBGCP4 mutations in individuals with microcephaly and a spectrum of anomalies in eye development, particularly photoreceptor anomalies, provides evidence of an important role for the ?-TuRC in brain and eye development. |Base Sequence [MESH] |Choroid Diseases/*genetics [MESH] |Exome/genetics [MESH] |Eye Diseases, Hereditary/*genetics [MESH] |Frameshift Mutation/genetics [MESH] |France [MESH] |Gene Components [MESH] |Humans [MESH] |Microcephaly/*genetics [MESH] |Microtubule-Associated Proteins/*genetics [MESH] |Microtubules/*genetics/metabolism [MESH] |Molecular Sequence Data [MESH] |Pedigree [MESH] |Retinal Diseases/*genetics [MESH] |Sequence Analysis, DNA [MESH]Mutations in TUBGCP4 alter microtubule organization via the ?-tubulin (epmc).pdf DeepDyve Pubget Overpricing