{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T10:24:56Z","timestamp":1744107896637},"reference-count":26,"publisher":"Spandidos Publications","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Med Report"],"DOI":"10.3892\/mmr.2019.10036","type":"journal-article","created":{"date-parts":[[2019,3,14]],"date-time":"2019-03-14T13:14:21Z","timestamp":1552569261000},"source":"Crossref","is-referenced-by-count":2,"title":["Identification of red blood cell membrane defects in a patient with hereditary spherocytosis using next\u2011generation sequencing technology and matrix\u2011assisted laser desorption\/ionization time\u2011of\u2011flight mass spectrometry"],"prefix":"10.3892","author":[{"given":"Leyla","family":"\u015eener","sequence":"first","affiliation":[{"name":"Department of Biophysics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melih","family":"Aktan","sequence":"additional","affiliation":[{"name":"Department of Hematology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\ufffdrcan","family":"Albeniz","sequence":"additional","affiliation":[{"name":"Department of General Surgery, Cerrahpa\u015fa Faculty of Medicine, Istanbul University Cerrahpa\u015fa, 34096 Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aziz","family":"\u015eener","sequence":"additional","affiliation":[{"name":"Department of General Surgery, Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duran","family":"\ufffdstek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and REMER, Medipol University, 34810 Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I\u015f\u0131l","family":"Albeniz","sequence":"additional","affiliation":[{"name":"Department of Biophysics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2019,3,14]]},"reference":[{"key":"key20200713232443_b1-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1111\/j.1365-2141.2004.05052.x","article-title":"Guidelines for the diagnosis and management of hereditary spherocytosis","volume":"126","author":"Bolton-Maggs","year":"2004","journal-title":"Br J Haematol"},{"key":"key20200713232443_b2-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1016\/S0140-6736(08)61588-3","article-title":"Hereditary spherocytosis","volume":"372","author":"Perrotta","year":"2008","journal-title":"Lancet"},{"key":"key20200713232443_b3-mmr-19-05-3912","first-page":"107","article-title":"Hereditary spherocytosis","volume":"28","author":"Hug","year":"2010","journal-title":"J Health Popul Nutr"},{"key":"key20200713232443_b4-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/S0022-3476(98)70495-0","article-title":"High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis","volume":"132","author":"Miraglia del Giudice","year":"1998","journal-title":"J Pediatr"},{"key":"key20200713232443_b5-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1046\/j.1365-2141.1998.00688.x","article-title":"Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency","volume":"101","author":"Miraglia Del Giudice","year":"1998","journal-title":"Br J Haematol"},{"key":"key20200713232443_b6-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"1349","DOI":"10.1016\/j.pcl.2013.09.001","article-title":"Abnormalities of the erythrocyte membrane","volume":"60","author":"Gallagher","year":"2013","journal-title":"Pediatr Clin North Am"},{"key":"key20200713232443_b7-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"3939","DOI":"10.1182\/blood-2008-07-161166","article-title":"Red cell membrane: Past, present and future","volume":"112","author":"Mohandas","year":"2008","journal-title":"Blood"},{"key":"key20200713232443_b8-mmr-19-05-3912","first-page":"274","article-title":"Hereditary red cell membrane defects: Diagnostic and clinical aspects","volume":"9","author":"Barcellini","year":"2011","journal-title":"Blood Transfus"},{"key":"key20200713232443_b9-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1515\/cclm-2016-0738","article-title":"Advances in laboratory diagnosis of hereditary spherocytosis","volume":"55","author":"Farias","year":"2017","journal-title":"Clin Chem Lab Med"},{"key":"key20200713232443_b10-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"2299","DOI":"10.1021\/ac00171a028","article-title":"Laser desorption ionization of proteins with molecular masses exceeding 10,000 daltons","volume":"60","author":"Karas","year":"1988","journal-title":"Anal Chem Oct"},{"key":"key20200713232443_b11-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1093\/bioinformatics\/btt686","article-title":"HomSI: Homozygous stretch identifier from next-generation sequencing data","volume":"30","author":"Gormez","year":"2014","journal-title":"Bioinformatics"},{"key":"key20200713232443_b12-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1111\/j.1600-0609.1981.tb01374.x","article-title":"The normal range of osmotic fragility of red blood cells","volume":"25","author":"Godal","year":"1980","journal-title":"Scand J Haematol"},{"key":"key20200713232443_b13-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/0003-9861(63)90042-0","article-title":"The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes","volume":"100","author":"Dodge","year":"1963","journal-title":"Arch Biochem Biophys"},{"key":"key20200713232443_b14-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1038\/227680a0","article-title":"Cleavage of structural proteins during the assembly of the head of bacteriophage T4","volume":"227","author":"Laemmli","year":"1970","journal-title":"Nature"},{"key":"key20200713232443_b15-mmr-19-05-3912","first-page":"220","article-title":"Diagnostic value of may grunwald giemsa staining of cerebrospinal fluid in patients with crptococcal meningitis","volume":"40","author":"Fan","year":"2013","journal-title":"J \u0130nt Neurol Neurosurg"},{"key":"key20200713232443_b16-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1038\/nmeth.1322","article-title":"Universal sample preparation method for proteome analysis","volume":"6","author":"Wisniewski","year":"2009","journal-title":"Nat Methods"},{"key":"key20200713232443_b17-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"3592","DOI":"10.1021\/pr300015p","article-title":"A proteomic approach to investigate the distribution and abundance of surface and internal fasciola hepatica proteins during the chronic stage of natural liver fluke infection in cattle","volume":"11","author":"Hacariz","year":"2012","journal-title":"J Proteome Res"},{"key":"key20200713232443_b18-mmr-19-05-3912","first-page":"D158","article-title":"UniProt: The universal protein knowledgebase","volume":"46","author":"The UniProt","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"key20200713232443_b19-mmr-19-05-3912","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1093\/clinchem\/25.4.629","article-title":"Agarose gel electrophoresis","volume":"25","author":"Jeppsson","year":"1979","journal-title":"Clin Chem"},{"key":"key20200713232443_b20-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows\u2013Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"key20200713232443_b21-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics (Oxford, England)"},{"key":"key20200713232443_b22-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","article-title":"BEDTools: A flexible suite of utilities for comparing genomic features","volume":"26","author":"Quinlan","year":"2010","journal-title":"Bioinformatics"},{"key":"key20200713232443_b23-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat Genet"},{"key":"key20200713232443_b24-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"e600","DOI":"10.7717\/peerj.600","article-title":"Detailed comparison of two popular variant calling packages for exome and targeted exon studies","volume":"30","author":"Warden","year":"2014","journal-title":"Peer J"},{"key":"key20200713232443_b25-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"key20200713232443_b26-mmr-19-05-3912","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease- causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"}],"container-title":["Molecular Medicine Reports"],"original-title":[],"deposited":{"date-parts":[[2020,7,14]],"date-time":"2020-07-14T00:17:46Z","timestamp":1594685866000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/mmr.2019.10036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,14]]},"references-count":26,"URL":"https:\/\/doi.org\/10.3892\/mmr.2019.10036","relation":{},"ISSN":["1791-2997","1791-3004"],"issn-type":[{"value":"1791-2997","type":"print"},{"value":"1791-3004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,14]]}}}