{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T11:31:55Z","timestamp":1779363115207,"version":"3.51.4"},"reference-count":59,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T00:00:00Z","timestamp":1541030400000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"name":"Sanford Research","award":["P20 GM103620"],"award-info":[{"award-number":["P20 GM103620"]}]},{"name":"Sanford Research","award":["P20 GM103548"],"award-info":[{"award-number":["P20 GM103548"]}]},{"name":"Sanford Research","award":["R01 NS082283 JW"],"award-info":[{"award-number":["R01 NS082283 JW"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R44 NS076075"],"award-info":[{"award-number":["R44 NS076075"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1016\/j.bbadis.2017.07.020","type":"journal-article","created":{"date-parts":[[2017,7,23]],"date-time":"2017-07-23T02:30:17Z","timestamp":1500777017000},"page":"2862-2870","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease"],"prefix":"10.1016","volume":"1863","author":[{"given":"Rosanna","family":"Beraldi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David K.","family":"Meyerholz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexei","family":"Savinov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila D.","family":"Kov\u00e1cs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill M.","family":"Weimer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordan A.","family":"Dykstra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan D.","family":"Geraets","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Pearce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.bbadis.2017.07.020_bb0005","first-page":"573","article-title":"The incidence and gene frequency of ataxia-telangiectasia in the United States","volume":"39","author":"Swift","year":"1986","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.bbadis.2017.07.020_bb0010","first-page":"255","article-title":"Ataxia-telangiectasia: some historic, clinical and pathologic observations","volume":"11","author":"Boder","year":"1975","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"10.1016\/j.bbadis.2017.07.020_bb0015","series-title":"Ataxia-telangiectasia. Handbook of Clinical Neurology","first-page":"347","author":"Sedgewick","year":"1991"},{"issue":"2","key":"10.1016\/j.bbadis.2017.07.020_bb0020","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1182\/blood.V87.2.423.bloodjournal872423","article-title":"Leukemia and lymphoma in ataxia telangiectasia","volume":"87","author":"Taylor","year":"1996","journal-title":"Blood"},{"issue":"7","key":"10.1016\/j.bbadis.2017.07.020_bb0025","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1097\/00043426-200407000-00009","article-title":"Osteosarcoma as a second tumor after treatment for primary non-Hodgkin's lymphoma in a child with ataxia-telangiectasia: presentation of a case and review of possible pathogenetic mechanisms","volume":"26","author":"Makis","year":"2004","journal-title":"J. Pediatr. Hematol. Oncol."},{"issue":"2","key":"10.1016\/j.bbadis.2017.07.020_bb0030","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1200\/JCO.2014.56.5101","article-title":"Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French National Registry of Primary Immune Deficiencies","volume":"33","author":"Suarez","year":"2015","journal-title":"J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol."},{"key":"10.1016\/j.bbadis.2017.07.020_bb0035","series-title":"Pathological Findings in Three Cases of Ataxia-telangiectasia","first-page":"29","author":"Sj","year":"1966"},{"issue":"1","key":"10.1016\/j.bbadis.2017.07.020_bb0040","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: a review","volume":"11","author":"Rothblum-Oviatt","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"issue":"9","key":"10.1016\/j.bbadis.2017.07.020_bb0045","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1002\/ppul.21277","article-title":"Evaluation and management of pulmonary disease in ataxia-telangiectasia","volume":"45","author":"McGrath-Morrow","year":"2010","journal-title":"Pediatr. Pulmonol."},{"issue":"4","key":"10.1016\/j.bbadis.2017.07.020_bb0050","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nrm3546","article-title":"The ATM protein kinase: regulating the cellular response to genotoxic stress, and more","volume":"14","author":"Shiloh","year":"2013","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"6199","key":"10.1016\/j.bbadis.2017.07.020_bb0055","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/336577a0","article-title":"Localization of an ataxia-telangiectasia gene to chromosome 11q22-23","volume":"336","author":"Gatti","year":"1988","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.bbadis.2017.07.020_bb0060","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/humu.22016","article-title":"Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study","volume":"33","author":"Verhagen","year":"2012","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.bbadis.2017.07.020_bb0065","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1111\/cge.12453","article-title":"Ataxia telangiectasia: more variation at clinical and cellular levels","volume":"87","author":"Taylor","year":"2015","journal-title":"Clin. Genet."},{"issue":"1","key":"10.1016\/j.bbadis.2017.07.020_bb0070","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0092-8674(00)80086-0","article-title":"Atm-deficient mice: a paradigm of ataxia telangiectasia","volume":"86","author":"Barlow","year":"1996","journal-title":"Cell"},{"issue":"5","key":"10.1016\/j.bbadis.2017.07.020_bb0075","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1016\/j.biocel.2004.10.015","article-title":"Molecular cloning and functional characterization of zebrafish ATM","volume":"37","author":"Imamura","year":"2005","journal-title":"Int. J. Biochem. Cell Biol."},{"issue":"1","key":"10.1016\/j.bbadis.2017.07.020_bb0080","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1534\/genetics.113.150854","article-title":"The innate immune response transcription factor relish is necessary for neurodegeneration in a Drosophila model of ataxia-telangiectasia","volume":"194","author":"Petersen","year":"2013","journal-title":"Genetics"},{"issue":"1","key":"10.1016\/j.bbadis.2017.07.020_bb0085","first-page":"109","article-title":"A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype","volume":"26","author":"Quek","year":"2017","journal-title":"Hum. Mol. Genet."},{"issue":"22","key":"10.1016\/j.bbadis.2017.07.020_bb0090","doi-asserted-by":"crossref","first-page":"6473","DOI":"10.1093\/hmg\/ddv356","article-title":"A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease","volume":"24","author":"Beraldi","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.bbadis.2017.07.020_bb0095","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1111\/j.1651-2227.1967.tb15424.x","article-title":"Ovarian changes in ataxia telangiectasia","volume":"56","author":"Miller","year":"1967","journal-title":"Acta Paediatr. Scand."},{"issue":"4","key":"10.1016\/j.bbadis.2017.07.020_bb0100","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/j.1651-2227.1978.tb16357.x","article-title":"Gonadal dysfunction in patients with ataxia telangiectasia","volume":"67","author":"Zadik","year":"1978","journal-title":"Acta Paediatr. Scand."},{"key":"10.1016\/j.bbadis.2017.07.020_bb0105","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1136\/jnnp.29.6.489","article-title":"Pathological findings in three cases of ataxia-telangiectasia","volume":"29","author":"S.J.S.","year":"1966","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"7344","key":"10.1016\/j.bbadis.2017.07.020_bb0110","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1016\/S0140-6736(64)91209-7","article-title":"Ataxia-telangiectasia. Its association with a defective thymus, immunological-deficiency disease, and malignancy","volume":"1","author":"Peterson","year":"1964","journal-title":"Lancet"},{"issue":"3","key":"10.1016\/j.bbadis.2017.07.020_bb0115","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/0002-9343(66)90080-5","article-title":"Lymphoid tissue abnormalities associated with ataxia-telangiectasia","volume":"41","author":"Peterson","year":"1966","journal-title":"Am. J. Med."},{"issue":"1","key":"10.1016\/j.bbadis.2017.07.020_bb0120","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1046\/j.1365-2249.2002.01830.x","article-title":"Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia","volume":"129","author":"Schubert","year":"2002","journal-title":"Clin. Exp. Immunol."},{"issue":"2","key":"10.1016\/j.bbadis.2017.07.020_bb0125","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/j.1365-2249.2008.03684.x","article-title":"Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene","volume":"153","author":"Staples","year":"2008","journal-title":"Clin. Exp. Immunol."},{"issue":"3","key":"10.1016\/j.bbadis.2017.07.020_bb0130","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.dci.2008.06.003","article-title":"Porcine T lymphocytes and NK cells\u2014an update","volume":"33","author":"Gerner","year":"2009","journal-title":"Dev. Comp. Immunol."},{"issue":"1-3","key":"10.1016\/j.bbadis.2017.07.020_bb0135","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.vetimm.2008.10.321","article-title":"The piglet as a model for B cell and immune system development","volume":"128","author":"Butler","year":"2009","journal-title":"Vet. Immunol. Immunopathol."},{"issue":"2","key":"10.1016\/j.bbadis.2017.07.020_bb0140","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1177\/104063879200400201","article-title":"Isolation of swine infertility and respiratory syndrome virus (isolate ATCC VR-2332) in North America and experimental reproduction of the disease in gnotobiotic pigs","volume":"4","author":"Collins","year":"1992","journal-title":"J. Vet. Diagn. Investig."},{"issue":"260","key":"10.1016\/j.bbadis.2017.07.020_bb0145","article-title":"Control of porcine reproductive and respiratory syndrome (PRRS) through genetic improvements in disease resistance and tolerance","volume":"3","author":"Rowland","year":"2012","journal-title":"Front. Genet."},{"issue":"6","key":"10.1016\/j.bbadis.2017.07.020_bb0150","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/pr.2016.19","article-title":"Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort","volume":"79","author":"Nissenkorn","year":"2016","journal-title":"Pediatr. Res."},{"issue":"6","key":"10.1016\/j.bbadis.2017.07.020_bb0155","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1002\/cbin.10439","article-title":"Role of ataxia-telangiectasia mutated (ATM) in porcine oocyte in vitro maturation","volume":"39","author":"Lin","year":"2015","journal-title":"Cell Biol. Int."},{"issue":"133","key":"10.1016\/j.bbadis.2017.07.020_bb0160","first-page":"153","article-title":"Die Spermien der Nagetiere","volume":"14","author":"G.R.","year":"1909","journal-title":"Biol. Untersuch NFJena"},{"issue":"1-2","key":"10.1016\/j.bbadis.2017.07.020_bb0165","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/0378-4320(94)90061-2","article-title":"Fertility of long-term-stored boar semen: influence of extender (Androhep and Kiev), storage time and plasma droplets in the semen","volume":"36","author":"Waberski","year":"1994","journal-title":"Anim. Reprod. Sci."},{"issue":"2","key":"10.1016\/j.bbadis.2017.07.020_bb0170","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1095\/biolreprod63.2.612","article-title":"The cause of infertility of male c-ros tyrosine kinase receptor knockout mice","volume":"63","author":"Yeung","year":"2000","journal-title":"Biol. Reprod."},{"issue":"3","key":"10.1016\/j.bbadis.2017.07.020_bb0175","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/S0015-0282(00)00703-2","article-title":"Varicocele is associated with abnormal retention of cytoplasmic droplets by human spermatozoa","volume":"74","author":"Zini","year":"2000","journal-title":"Fertil. Steril."},{"issue":"3","key":"10.1016\/j.bbadis.2017.07.020_bb0180","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/S0090-4295(00)00700-7","article-title":"Smoking is associated with the retention of cytoplasm by human spermatozoa","volume":"56","author":"Mak","year":"2000","journal-title":"Urology"},{"issue":"4","key":"10.1016\/j.bbadis.2017.07.020_bb0185","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1097\/00005072-196810000-00009","article-title":"Pathological observations in ataxia-telangiectasia. A report of five cases","volume":"27","author":"Aguilar","year":"1968","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.bbadis.2017.07.020_bb0190","first-page":"67","article-title":"Hypothalamic, pituitary and gonadal regulation of FSH","volume":"59","author":"Padmanabhan","year":"2002","journal-title":"Reproduction"},{"issue":"2","key":"10.1016\/j.bbadis.2017.07.020_bb0195","doi-asserted-by":"crossref","first-page":"T41","DOI":"10.1530\/JOE-15-0113","article-title":"60years of neuroendocrinology: the hypothalamo-pituitary-gonadal axis","volume":"226","author":"Plant","year":"2015","journal-title":"J. Endocrinol."},{"issue":"5","key":"10.1016\/j.bbadis.2017.07.020_bb0200","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/nri798","article-title":"T-cell development and the CD4-CD8 lineage decision","volume":"2","author":"Germain","year":"2002","journal-title":"Nat. Rev. Immunol."},{"issue":"3","key":"10.1016\/j.bbadis.2017.07.020_bb0205","first-page":"280","article-title":"Thymus size and age-related thymic involution: early programming, sexual dimorphism, progenitors and stroma","volume":"3","author":"Gui","year":"2012","journal-title":"Aging Dis."},{"issue":"9","key":"10.1016\/j.bbadis.2017.07.020_bb0210","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a012716","article-title":"DNA damage sensing by the ATM and ATR kinases","volume":"5","author":"Marechal","year":"2013","journal-title":"Cold Spring Harb. Perspect. Biol."},{"issue":"2","key":"10.1016\/j.bbadis.2017.07.020_bb0215","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1101\/gad.13.2.152","article-title":"A role for ATR in the DNA damage-induced phosphorylation of p53","volume":"13","author":"Tibbetts","year":"1999","journal-title":"Genes Dev."},{"issue":"15","key":"10.1016\/j.bbadis.2017.07.020_bb0220","doi-asserted-by":"crossref","first-page":"12491","DOI":"10.1074\/jbc.C200093200","article-title":"ATM mediates phosphorylation at multiple p53 sites, including Ser(46), in response to ionizing radiation","volume":"277","author":"Saito","year":"2002","journal-title":"J. Biol. Chem."},{"issue":"6922","key":"10.1016\/j.bbadis.2017.07.020_bb0225","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1038\/nature01368","article-title":"DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation","volume":"421","author":"Bakkenist","year":"2003","journal-title":"Nature"},{"issue":"5721","key":"10.1016\/j.bbadis.2017.07.020_bb0230","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1126\/science.1108297","article-title":"ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex","volume":"308","author":"Lee","year":"2005","journal-title":"Science"},{"issue":"2","key":"10.1016\/j.bbadis.2017.07.020_bb0235","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1101\/gad.956902","article-title":"Sensing of intermediates in V(D)J recombination by ATM","volume":"16","author":"Perkins","year":"2002","journal-title":"Genes Dev."},{"issue":"7","key":"10.1016\/j.bbadis.2017.07.020_bb0240","doi-asserted-by":"crossref","first-page":"1620","DOI":"10.1128\/MCB.00810-09","article-title":"Requirement of ATM for rapid p53 phosphorylation at Ser46 without Ser\/Thr-Gln sequences","volume":"30","author":"Kodama","year":"2010","journal-title":"Mol. Cell. Biol."},{"issue":"56","key":"10.1016\/j.bbadis.2017.07.020_bb0245","doi-asserted-by":"crossref","first-page":"9030","DOI":"10.1038\/sj.onc.1207116","article-title":"Control of apoptosis by p53","volume":"22","author":"Fridman","year":"2003","journal-title":"Oncogene"},{"issue":"42","key":"10.1016\/j.bbadis.2017.07.020_bb0250","doi-asserted-by":"crossref","first-page":"4822","DOI":"10.1038\/sj.onc.1203879","article-title":"p27kip1-independent cell cycle regulation by MYC","volume":"19","author":"Berns","year":"2000","journal-title":"Oncogene"},{"issue":"4","key":"10.1016\/j.bbadis.2017.07.020_bb0255","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.jpeds.2003.12.046","article-title":"Immunodeficiency and infections in ataxia-telangiectasia","volume":"144","author":"Nowak-Wegrzyn","year":"2004","journal-title":"J. Pediatr."},{"issue":"12","key":"10.1016\/j.bbadis.2017.07.020_bb0260","doi-asserted-by":"crossref","first-page":"4082","DOI":"10.1182\/blood-2002-03-0976","article-title":"Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia","volume":"100","author":"Giovannetti","year":"2002","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.bbadis.2017.07.020_bb0265","doi-asserted-by":"crossref","first-page":"261","DOI":"10.4049\/jimmunol.1101909","article-title":"Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95","volume":"189","author":"Carney","year":"2012","journal-title":"J. Immunol."},{"issue":"3","key":"10.1016\/j.bbadis.2017.07.020_bb0270","first-page":"500","article-title":"Functional and phenotypic analysis of porcine peripheral blood CD4\/CD8 double-positive T cells","volume":"87","author":"Zuckermann","year":"1996","journal-title":"Immunology"},{"issue":"4","key":"10.1016\/j.bbadis.2017.07.020_bb0275","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.4049\/jimmunol.134.4.2281","article-title":"Coexpression of T4 and T8 on peripheral blood T cells demonstrated by two-color fluorescence flow cytometry","volume":"134","author":"Blue","year":"1985","journal-title":"J. Immunol."},{"issue":"4","key":"10.1016\/j.bbadis.2017.07.020_bb0280","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.4049\/jimmunol.143.4.1108","article-title":"Analysis of the functional capabilities of CD3+CD4-CD8- and CD3+CD4+CD8+ human T cell clones","volume":"143","author":"Patel","year":"1989","journal-title":"J. Immunol."},{"issue":"5","key":"10.1016\/j.bbadis.2017.07.020_bb0285","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/sj.cdd.4400513","article-title":"Caspases in T-cell receptor-induced thymocyte apoptosis","volume":"6","author":"Jiang","year":"1999","journal-title":"Cell Death Differ."},{"key":"10.1016\/j.bbadis.2017.07.020_bb0290","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1056\/NEJM196501072720104","article-title":"Immunologic deficiency in ataxia telangiectasia","volume":"272","author":"Eisen","year":"1965","journal-title":"N. Engl. J. Med."},{"issue":"14","key":"10.1016\/j.bbadis.2017.07.020_bb0295","doi-asserted-by":"crossref","first-page":"3779","DOI":"10.1093\/hmg\/ddu091","article-title":"Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy","volume":"23","author":"Beraldi","year":"2014","journal-title":"Hum. Mol. Genet."}],"container-title":["Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443917302466?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0925443917302466?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T04:42:16Z","timestamp":1760416936000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0925443917302466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":59,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["S0925443917302466"],"URL":"https:\/\/doi.org\/10.1016\/j.bbadis.2017.07.020","relation":{},"ISSN":["0925-4439"],"issn-type":[{"value":"0925-4439","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbadis.2017.07.020","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V.","name":"copyright","label":"Copyright"}]}}