{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T12:58:30Z","timestamp":1760101110874},"reference-count":34,"publisher":"Spandidos Publications","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Med Report"],"DOI":"10.3892\/mmr.2019.9947","type":"journal-article","created":{"date-parts":[[2019,2,8]],"date-time":"2019-02-08T13:52:17Z","timestamp":1549633937000},"source":"Crossref","is-referenced-by-count":4,"title":["Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs\u2011negative hemolytic jaundice"],"prefix":"10.3892","author":[{"given":"Xiong","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aiguo","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanjun","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qun","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2019,2,8]]},"reference":[{"key":"key20200713232143_b1-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.blre.2013.04.003","article-title":"Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders","volume":"27","author":"Da Costa","year":"2013","journal-title":"Blood Rev"},{"key":"key20200713232143_b2-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"e219","DOI":"10.3324\/haematol.2017.186551","article-title":"Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism","volume":"103","author":"Wang","year":"2018","journal-title":"Haematologica"},{"key":"key20200713232143_b3-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"1304","DOI":"10.3324\/haematol.2016.161166","article-title":"Recommendations regarding splenectomy in hereditary hemolytic anemias","volume":"102","author":"Iolascon","year":"2017","journal-title":"Haematologica"},{"key":"key20200713232143_b4-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"S25","DOI":"10.1038\/jp.2008.211","article-title":"Clinical report from the pilot USA kernicterus registry (1992 to 2004)","volume":"29","author":"Johnson","year":"2009","journal-title":"J Perinatol"},{"key":"key20200713232143_b5-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1097\/MOH.0b013e32835f6870","article-title":"Disorders of red cell volume regulation","volume":"20","author":"Gallagher","year":"2013","journal-title":"Curr Opin Hematol"},{"key":"key20200713232143_b6-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1542\/peds.2014-3516","article-title":"A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates","volume":"135","author":"Christensen","year":"2015","journal-title":"Pediatrics"},{"key":"key20200713232143_b7-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"1959","DOI":"10.1007\/s00277-015-2491-z","article-title":"Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5\u2032-maleimide binding assay","volume":"94","author":"Andres","year":"2015","journal-title":"Ann Hematol"},{"key":"key20200713232143_b8-mmr-19-04-2801","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1111\/j.1365-2141.2008.07091.x","article-title":"Disorders of red cell membrane","volume":"141","author":"An","year":"2008","journal-title":"Br J Haematol"},{"key":"key20200713232143_b9-mmr-19-04-2801","first-page":"118","article-title":"Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population","volume":"71","author":"Yawata","year":"2000","journal-title":"Int J Hematol"},{"key":"key20200713232143_b10-mmr-19-04-2801","doi-asserted-by":"crossref","first-page":"4227","DOI":"10.1016\/S0021-9258(18)53600-0","article-title":"Location of the human red cell spectrin tetramer binding site and detection of a related \u2018closed\u2019 hairpin loop dimer using proteolytic footprinting","volume":"268","author":"Speicher","year":"1993","journal-title":"J Biol Chem"},{"key":"key20200713232143_b11-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1111\/j.1365-2141.2009.07876.x","article-title":"Association studies of erythroid alpha-spectrin at the tetramerization site","volume":"147","author":"Lam","year":"2009","journal-title":"Br J Haematol"},{"key":"key20200713232143_b12-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"S47","DOI":"10.1111\/ijlh.12657","article-title":"Red cell membrane disorders","volume":"39","author":"Narla","year":"2017","journal-title":"Int J Lab Hematol"},{"key":"key20200713232143_b13-mmr-19-04-2801","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":"key20200713232143_b14-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/j.ajhg.2017.01.004","article-title":"InterVar: Clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines","volume":"100","author":"Li","year":"2017","journal-title":"Am J Hum Genet"},{"key":"key20200713232143_b15-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"key20200713232143_b16-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: Mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"key20200713232143_b17-mmr-19-04-2801","first-page":"Unit7.20","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","volume":"7","author":"Adzhubei","year":"2013","journal-title":"Curr Protoc Hum Genet Chapter"},{"key":"key20200713232143_b18-mmr-19-04-2801","doi-asserted-by":"crossref","first-page":"84981","DOI":"10.18632\/oncotarget.13109","article-title":"Mutation analysis of a Chinese family with oculocutaneous albinism","volume":"7","author":"Wang","year":"2016","journal-title":"Oncotarget"},{"key":"key20200713232143_b19-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces","volume":"11","author":"Venselaar","year":"2010","journal-title":"BMC Bioinformatics"},{"key":"key20200713232143_b20-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1016\/j.ajhg.2016.08.012","article-title":"Guidelines for large-scale sequence-based complex trait association studies: Lessons learned from the NHLBI exome sequencing project","volume":"99","author":"Auer","year":"2016","journal-title":"Am J Hum Genet"},{"key":"key20200713232143_b21-mmr-19-04-2801","first-page":"163","article-title":"Applications of the 1000 genomes project resources","volume":"16","author":"Zheng-Bradley","year":"2017","journal-title":"Brief Funct Genomics"},{"key":"key20200713232143_b22-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"key20200713232143_b23-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"key20200713232143_b24-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1038\/jp.2014.68","article-title":"Causes of hemolysis in neonates with extreme hyperbilirubinemia","volume":"34","author":"Christensen","year":"2014","journal-title":"J Perinatol"},{"key":"key20200713232143_b25-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1038\/jp.2012.67","article-title":"A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: A rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency","volume":"33","author":"Yaish","year":"2013","journal-title":"J Perinatol"},{"key":"key20200713232143_b26-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1542\/peds.2009-0864","article-title":"Hereditary spherocytosis in neonates with hyperbilirubinemia","volume":"125","author":"Christensen","year":"2010","journal-title":"Pediatrics"},{"key":"key20200713232143_b27-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1038\/jp.2010.212","article-title":"Evaluating neonatal hyperbilirubinemia in late preterm Hispanic twins led to the diagnosis of hereditary spherocytosis in them, and in their sibling and in their mother","volume":"31","author":"Sheffield","year":"2011","journal-title":"J Perinatol"},{"key":"key20200713232143_b28-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1111\/bjh.14131","article-title":"Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias","volume":"174","author":"Agarwal","year":"2016","journal-title":"Br J Haematol"},{"key":"key20200713232143_b29-mmr-19-04-2801","doi-asserted-by":"crossref","first-page":"96791","DOI":"10.18632\/oncotarget.18243","article-title":"Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS","volume":"8","author":"Wang","year":"2017","journal-title":"Oncotarget"},{"key":"key20200713232143_b30-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1016\/j.gene.2017.07.009","article-title":"Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing","volume":"627","author":"He","year":"2017","journal-title":"Gene"},{"key":"key20200713232143_b31-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1007\/s11427-017-9232-6","article-title":"Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis","volume":"61","author":"Wang","year":"2018","journal-title":"Sci China Life Sci"},{"key":"key20200713232143_b32-mmr-19-04-2801","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":"key20200713232143_b33-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"2300","DOI":"10.1172\/JCI119041","article-title":"Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia","volume":"98","author":"Wichterle","year":"1996","journal-title":"J Clin Invest"},{"key":"key20200713232143_b34-mmr-19-04-2801","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1159\/000365586","article-title":"Novel \u03b1-spectrin mutation in trans with alpha-spectrin causing severe neonatal jaundice from hereditary spherocytosis","volume":"106","author":"Nussenzveig","year":"2014","journal-title":"Neonatology"}],"container-title":["Molecular Medicine Reports"],"original-title":[],"deposited":{"date-parts":[[2024,7,14]],"date-time":"2024-07-14T17:14:35Z","timestamp":1720977275000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/mmr.2019.9947"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,8]]},"references-count":34,"URL":"https:\/\/doi.org\/10.3892\/mmr.2019.9947","relation":{},"ISSN":["1791-2997","1791-3004"],"issn-type":[{"value":"1791-2997","type":"print"},{"value":"1791-3004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,8]]}}}