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10.1002/mgg3.390 http://scihub22266oqcxt.onion/10.1002/mgg3.390 C6014456!6014456 !29573232     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29573232 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215       Mol+Genet+Genomic+Med 2018 ; 6 (3 ): 422-433 Nephropedia Template TP {{tp|p=29573232 |t=2018. Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation |pdf=|usr=}}{{29573232 }} gab.com Text Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation JO: Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=29573232 #FOAvip Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of diseases affecting the motor and sensory peripheral nerves. IPNs have benefited from gene discovery and genetic diagnosis using next-generation sequencing with over 80 causative genes available for testing. Despite this success, up to 50% of cases remain genetically unsolved. In the absence of protein coding mutations, noncoding DNA or structural variation (SV) mutations are a possible explanation. The most common IPN, Charcot-Marie-Tooth neuropathy type 1A (CMT1A), is caused by a 1.5 Mb duplication causing trisomy of the dosage sensitive gene PMP22. Using genome sequencing, we recently identified two large genomic rearrangements causing IPN subtypes X-linked CMT (CMTX3) and distal hereditary motor neuropathy (DHMN1), thereby expanding the spectrum of SV mutations causing IPN. Understanding how newly discovered SVs can cause IPN may serve as a useful paradigm to examine the role of topologically associated domains (TADs), chromatin interactions, and gene dysregulation in disease. This review will describe the growing role of SV in the pathogenesis of IPN and the importance of considering this type of mutation in Mendelian diseases where protein coding mutations cannot be identified. Twit Text FOAVip Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation ????Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=29573232 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29573232 #FOAvip English Wikipedia <ref>{{Cite pmid|29573232 }}</ref> Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation #MMPMID29573232 Cutrupi AN ; Brewer MH ; Nicholson GA ; Kennerson ML Mol Genet Genomic Med 2018[May]; 6 (3 ): 422-433 PMID29573232 show ga Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of diseases affecting the motor and sensory peripheral nerves. IPNs have benefited from gene discovery and genetic diagnosis using next-generation sequencing with over 80 causative genes available for testing. Despite this success, up to 50% of cases remain genetically unsolved. In the absence of protein coding mutations, noncoding DNA or structural variation (SV) mutations are a possible explanation. The most common IPN, Charcot-Marie-Tooth neuropathy type 1A (CMT1A), is caused by a 1.5 Mb duplication causing trisomy of the dosage sensitive gene PMP22. Using genome sequencing, we recently identified two large genomic rearrangements causing IPN subtypes X-linked CMT (CMTX3) and distal hereditary motor neuropathy (DHMN1), thereby expanding the spectrum of SV mutations causing IPN. Understanding how newly discovered SVs can cause IPN may serve as a useful paradigm to examine the role of topologically associated domains (TADs), chromatin interactions, and gene dysregulation in disease. This review will describe the growing role of SV in the pathogenesis of IPN and the importance of considering this type of mutation in Mendelian diseases where protein coding mutations cannot be identified. |Charcot-Marie-Tooth Disease/genetics [MESH] |Chromatin [MESH] |Chromosome Mapping [MESH] |Gene Dosage/genetics [MESH] |Genome [MESH] |Genomic Structural Variation/genetics [MESH] |Genomics [MESH] |Hereditary Sensory and Motor Neuropathy/genetics [MESH] |High-Throughput Nucleotide Sequencing [MESH] |Humans [MESH] |Peripheral Nervous System Diseases/*genetics/*physiopathology [MESH]Structural variations causing inherited peripheral neuropathies: A par(epmc).pdf DeepDyve Pubget Overpricing