{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T04:59:54Z","timestamp":1792299594181,"version":"4.4.0"},"reference-count":42,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jocn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Clinical Neuroscience"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.jocn.2018.04.006","type":"journal-article","created":{"date-parts":[[2018,4,18]],"date-time":"2018-04-18T22:07:03Z","timestamp":1524089223000},"page":"62-68","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours"],"prefix":"10.1016","volume":"53","author":[{"given":"Bodapati Chandra Mouleshwara","family":"Prasad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vemula Venkata Ramesh","family":"Chandra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agarwal","family":"Sudarsan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasupuleti Santhosh","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Potukuchi Venkata Gurunadha Krishna","family":"Sarma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jocn.2018.04.006_b0005","series-title":"Neurofibromatosis: phenotype, natural history, and pathogenesis","author":"Riccardi","year":"1992"},{"key":"10.1016\/j.jocn.2018.04.006_b0010","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1093\/oxfordjournals.aje.a010118","article-title":"NF1 gene and neurofibromatosis 1","volume":"151","author":"Rasmussen","year":"2000","journal-title":"Am J Epidemiol"},{"key":"10.1016\/j.jocn.2018.04.006_b0015","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1001\/archneur.1988.00520290115023","article-title":"Neurofibromatosis: conference statement","volume":"45","author":"Stumpf","year":"1988","journal-title":"Arch Neurol"},{"issue":"1","key":"10.1016\/j.jocn.2018.04.006_b0020","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1038\/bjc.2012.535","article-title":"Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study","volume":"108","author":"Seminog","year":"2013","journal-title":"Br J Cancer"},{"key":"10.1016\/j.jocn.2018.04.006_b0025","series-title":"Neurofibromatosis type 1: Molecular and cellular biology","first-page":"115","article-title":"The germline mutational spectrum in neurofibromatosis type 1 and genotype-phenotype correlations","author":"Cooper","year":"2012"},{"issue":"4","key":"10.1016\/j.jocn.2018.04.006_b0030","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1002\/humu.22044","article-title":"Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis","volume":"33","author":"Upadhyaya","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jocn.2018.04.006_b0035","series-title":"The neurofibromatoses","first-page":"46","article-title":"NF1 gene structure and NF1 genotype\/phenotype correlations","author":"Upadhyaya","year":"2008"},{"issue":"12","key":"10.1016\/j.jocn.2018.04.006_b0040","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1002\/humu.22162","article-title":"Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene","volume":"33","author":"Thomas","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jocn.2018.04.006_b0045","doi-asserted-by":"crossref","first-page":"456205","DOI":"10.1155\/2015\/456205","article-title":"Association between neurofibromatosis Type 1 and breast cancer: a report of two cases with a review of the literature","volume":"2015","author":"Seo","year":"2015","journal-title":"Case Rep Med"},{"issue":"2","key":"10.1016\/j.jocn.2018.04.006_b0050","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1038\/labinvest.2016.142","article-title":"The NF1 gene in tumor syndromes and melanoma","volume":"97","author":"Kiuru","year":"2017","journal-title":"Lab Invest"},{"issue":"7","key":"10.1016\/j.jocn.2018.04.006_b0055","doi-asserted-by":"crossref","first-page":"3124","DOI":"10.1074\/jbc.M115.703710","article-title":"Interaction between a domain of the negative regulator of the Ras-ERK pathway, SPRED1 protein, and the GTPase-activating protein-related domain of neurofibromin is implicated in legius syndrome and neurofibromatosis type 1","volume":"291","author":"Hirata","year":"2016","journal-title":"J Biol Chem"},{"issue":"8","key":"10.1016\/j.jocn.2018.04.006_b0060","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1016\/j.bbamcr.2007.01.012","article-title":"Ras oncogenes and their downstream targets","volume":"1773","author":"Rajalingam","year":"2007","journal-title":"Biochim Biophys Acta"},{"issue":"11","key":"10.1016\/j.jocn.2018.04.006_b0065","doi-asserted-by":"crossref","first-page":"3764","DOI":"10.1523\/JNEUROSCI.21-11-03764.2001","article-title":"Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans","volume":"21","author":"Hsueh","year":"2001","journal-title":"J Neurosci"},{"issue":"7","key":"10.1016\/j.jocn.2018.04.006_b0070","doi-asserted-by":"crossref","first-page":"2632","DOI":"10.1128\/MCB.25.7.2632-2643.2005","article-title":"TATA-binding protein (TBP)-like factor (TLF) is a functional regulator of transcription: reciprocal regulation of the neurofibromatosis type 1 and c-fos genes by TLF\/TRF2 and TBP","volume":"25","author":"Chong","year":"2005","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.jocn.2018.04.006_b0075","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1897-4287-9-6","article-title":"Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas","volume":"9","author":"Ponti","year":"2011","journal-title":"Hered Cancer Clin Pract"},{"issue":"6","key":"10.1016\/j.jocn.2018.04.006_b0080","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/humu.20103","article-title":"Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1","volume":"24","author":"Zatkova","year":"2004","journal-title":"Hum Mutat"},{"issue":"4","key":"10.1016\/j.jocn.2018.04.006_b0085","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/S0092-8674(01)00245-8","article-title":"NF1 tumor suppressor gene function: narrowing the GAP","volume":"104","author":"Cichowski","year":"2001","journal-title":"Cell"},{"issue":"4","key":"10.1016\/j.jocn.2018.04.006_b0090","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/0092-8674(90)90150-D","article-title":"The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21","volume":"63","author":"Martin","year":"1990","journal-title":"Cell"},{"issue":"1","key":"10.1016\/j.jocn.2018.04.006_b0095","first-page":"487","article-title":"A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity","volume":"13","author":"Andersen","year":"1993","journal-title":"Mol Cell Biol"},{"issue":"10","key":"10.1016\/j.jocn.2018.04.006_b0100","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1212\/WNL.58.10.1461","article-title":"Plexiform neurofibromas in NF1: toward biologic-based therapy","volume":"58","author":"Packer","year":"2002","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.jocn.2018.04.006_b0105","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/ejhg.2011.207","article-title":"Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas","volume":"20","author":"Thomas","year":"2012","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"10.1016\/j.jocn.2018.04.006_b0110","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.gene.2014.05.037","article-title":"Novel frame shift mutations ('A' deletion) observed in exon 9 of Wilms' tumor (WT1) gene in a patient reported with glomerulosclerosis","volume":"546","author":"Pasupuleti","year":"2014","journal-title":"Gene"},{"issue":"5","key":"10.1016\/j.jocn.2018.04.006_b0115","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/s004390100594","article-title":"Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene","volume":"109","author":"Han","year":"2001","journal-title":"Hum Genet"},{"issue":"3","key":"10.1016\/j.jocn.2018.04.006_b0120","doi-asserted-by":"crossref","first-page":"5395","DOI":"10.4238\/2014.July.24.19","article-title":"A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1","volume":"13","author":"Cai","year":"2014","journal-title":"Genet Mol Res"},{"issue":"10","key":"10.1016\/j.jocn.2018.04.006_b0125","doi-asserted-by":"crossref","first-page":"2094","DOI":"10.1080\/07391102.2014.999704","article-title":"Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness","volume":"33","author":"Kumar","year":"2015","journal-title":"J Biomol Struct Dyn"},{"issue":"8","key":"10.1016\/j.jocn.2018.04.006_b0130","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.ejmg.2016.05.009","article-title":"Identification of novel mutations in CD2BP1 gene in clinically proven rheumatoid arthritis patients of south India","volume":"59","author":"Kumar","year":"2016","journal-title":"Eur J Med Genet"},{"issue":"15","key":"10.1016\/j.jocn.2018.04.006_b0135","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1093\/bioinformatics\/btm262","article-title":"An evaluation of automated homology modelling methods at low target template sequence similarity","volume":"23","author":"Dalton","year":"2007","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jocn.2018.04.006_b0140","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1107\/S0021889892009944","article-title":"PROCHECK: a program to check the stereochemical quality of protein structures","volume":"26","author":"Laskowski","year":"1993","journal-title":"J Appl Cryst"},{"key":"10.1016\/j.jocn.2018.04.006_b0145","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1002\/jcc.20291","article-title":"GROMACS: fast, flexible, and free","volume":"26","author":"Van Der Spoel","year":"2005","journal-title":"J Comput Chem"},{"key":"10.1016\/j.jocn.2018.04.006_b0150","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/nar\/29.1.221","article-title":"PDBsum: summaries and analyses of PDB structures","volume":"29","author":"Laskowski","year":"2001","journal-title":"Nucleic Acids Res"},{"issue":"6","key":"10.1016\/j.jocn.2018.04.006_b0155","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1002\/mgg3.161","article-title":"126 novel mutations in Italian patients with neurofibromatosis type 1","volume":"3","author":"Bianchessi","year":"2015","journal-title":"Mol Genet Genomic Med"},{"issue":"6","key":"10.1016\/j.jocn.2018.04.006_b0160","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/humu.9245","article-title":"Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1","volume":"23","author":"De Luca","year":"2004","journal-title":"Hum Mutat"},{"issue":"2","key":"10.1016\/j.jocn.2018.04.006_b0165","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/hmg\/9.2.237","article-title":"Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1","volume":"9","author":"Ars","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jocn.2018.04.006_b0170","series-title":"Neurofibromatosis: phenotype, natural history, and pathogenesis","first-page":"19","article-title":"The structure and function of the NF1 gene: molecular pathophysiology","author":"Viskochil","year":"1999"},{"issue":"4","key":"10.1016\/j.jocn.2018.04.006_b0175","doi-asserted-by":"crossref","first-page":"e48","DOI":"10.1136\/jmg.2003.011890","article-title":"Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11\u201317 distinct from the GAP related domain","volume":"41","author":"Mattocks","year":"2004","journal-title":"J Med Genet"},{"issue":"5","key":"10.1016\/j.jocn.2018.04.006_b0180","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1002\/(SICI)1521-1878(200005)22:5<442::AID-BIES6>3.0.CO;2-Q","article-title":"Ubiquitin-mediated proteolysis: biological regulation via destruction","volume":"22","author":"Ciechanover","year":"2000","journal-title":"Bioessays"},{"issue":"4","key":"10.1016\/j.jocn.2018.04.006_b0185","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1101\/gad.1054703","article-title":"Dynamic regulation of the Ras pathway via proteolysis of the NF1 tumor suppressor","volume":"17","author":"Cichowski","year":"2003","journal-title":"Genes Dev"},{"issue":"1","key":"10.1016\/j.jocn.2018.04.006_b0190","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.ccr.2009.05.009","article-title":"Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis","volume":"16","author":"McGillicuddy","year":"2009","journal-title":"Cancer Cell"},{"issue":"3","key":"10.1016\/j.jocn.2018.04.006_b0195","doi-asserted-by":"crossref","first-page":"3242","DOI":"10.3390\/cancers3033242","article-title":"Aberrant signaling pathways in glioma","volume":"3","author":"Nakada","year":"2011","journal-title":"Cancers (Basel)"},{"key":"10.1016\/j.jocn.2018.04.006_b0200","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1471-2350-8-4","article-title":"Functional analysis of splicing mutations in exon 7 of NF1 gene","volume":"8","author":"Bottillo","year":"2007","journal-title":"BMC Med Genet"},{"issue":"6","key":"10.1016\/j.jocn.2018.04.006_b0205","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.pediatrneurol.2013.02.004","article-title":"Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1","volume":"48","author":"Ko","year":"2013","journal-title":"Pediatr Neurol"},{"issue":"3","key":"10.1016\/j.jocn.2018.04.006_b0210","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/s10048-009-0178-0","article-title":"The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas","volume":"10","author":"Upadhyaya","year":"2009","journal-title":"Neurogenetics"}],"container-title":["Journal of Clinical Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0967586817317010?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0967586817317010?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T21:19:12Z","timestamp":1760822352000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0967586817317010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":42,"alternative-id":["S0967586817317010"],"URL":"https:\/\/doi.org\/10.1016\/j.jocn.2018.04.006","relation":{},"ISSN":["0967-5868"],"issn-type":[{"value":"0967-5868","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours","name":"articletitle","label":"Article Title"},{"value":"Journal of Clinical Neuroscience","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jocn.2018.04.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}