{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T01:19:24Z","timestamp":1783041564787,"version":"3.54.6"},"reference-count":49,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,31]],"date-time":"2023-12-31T00:00:00Z","timestamp":1703980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Engineering and Biotechnology"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1016\/j.jgeb.2023.100350","type":"journal-article","created":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T20:24:30Z","timestamp":1706732670000},"page":"100350","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia"],"prefix":"10.1016","volume":"22","author":[{"given":"Nathalie Yepes","family":"Madrid","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina Johanna Moreno","family":"Giraldo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgeb.2023.100350_b0005","doi-asserted-by":"crossref","DOI":"10.1038\/s42003-022-04186-y","article-title":"Gene\u2013gene interaction detection with deep learning","volume":"5","author":"Cui","year":"2022","journal-title":"Commun. Biol."},{"key":"10.1016\/j.jgeb.2023.100350_b0010","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1093\/bib\/bby033","article-title":"Robust genetic interaction analysis","volume":"20","author":"Wu","year":"2019","journal-title":"Brief Bioinform."},{"key":"10.1016\/j.jgeb.2023.100350_b0015","series-title":"Methods in Molecular Biology","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/978-1-4939-7868-7_7","article-title":"Gene-gene and gene-environment interactions","author":"DeWan","year":"2018"},{"key":"10.1016\/j.jgeb.2023.100350_b0020","doi-asserted-by":"crossref","unstructured":"Cole BS, Hall MA, Urbanowicz RJ, Gilbert-Diamond D, Moore JH. Analysis of Gene-Gene Interactions. Vol. 95, Current Protocols in Human Genetics. Blackwell Publishing Inc.; 2017. p. 1.14.1-1.14.10.","DOI":"10.1002\/cphg.45"},{"key":"10.1016\/j.jgeb.2023.100350_b0025","first-page":"85","article-title":"Global Genetic Networks and the Genotype-to-Phenotype Relationship","volume":"177","author":"Costanzo","year":"2019","journal-title":"Cell. Cell Press"},{"key":"10.1016\/j.jgeb.2023.100350_b0030","doi-asserted-by":"crossref","DOI":"10.1186\/s13018-022-02969-x","article-title":"Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system\u2014trends observed from a single genetic unit","volume":"17","author":"Iyer","year":"2022","journal-title":"J Orthop Surg Res."},{"key":"10.1016\/j.jgeb.2023.100350_b0035","first-page":"12","article-title":"Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience","volume":"26","author":"Kim","year":"2021","journal-title":"Front Genet."},{"key":"10.1016\/j.jgeb.2023.100350_b0040","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1038\/gim.2018.50","article-title":"Expanding the phenome and variome of skeletal dysplasia","volume":"20","author":"Maddirevula","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.jgeb.2023.100350_b0045","doi-asserted-by":"crossref","DOI":"10.17219\/acem\/134166","article-title":"Lethal and life-limiting skeletal dysplasias: Selected prenatal issues","volume":"Vol. 30","author":"Stembalska","year":"2021","journal-title":"Advances in Clinical and Experimental Medicine"},{"key":"10.1016\/j.jgeb.2023.100350_b0050","unstructured":"Superti-Furga A, Unger S. GeneReviews. 2020. p. 1\u201311 Atelosteogenesis Type 2."},{"key":"10.1016\/j.jgeb.2023.100350_b0055","doi-asserted-by":"crossref","DOI":"10.1177\/2042018820904016","article-title":"New perspectives on the treatment of skeletal dysplasia","volume":"Vol. 11","author":"Marzin","year":"2020","journal-title":"Therapeutic Advances in Endocrinology and Metabolism"},{"key":"10.1016\/j.jgeb.2023.100350_b0060","doi-asserted-by":"crossref","unstructured":"Shah IP, Varghese B, Fernandes JA. Skeletal dysplasia. Vol. 30, Paediatrics and Child Health (United Kingdom). Churchill Livingstone; 2020. p. 209\u201319.","DOI":"10.1016\/j.paed.2020.03.004"},{"key":"10.1016\/j.jgeb.2023.100350_b0065","article-title":"Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing","volume":"2019","author":"Yang","year":"2019","journal-title":"Biomed Res Int."},{"key":"10.1016\/j.jgeb.2023.100350_b0070","doi-asserted-by":"crossref","DOI":"10.3390\/genes12050714","article-title":"SLC26A2-associated diastrophic dysplasia and rmed\u2014clinical features in affected finnish children and review of the literature","volume":"12","author":"H\u00e4rk\u00f6nen","year":"2021","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.jgeb.2023.100350_b0075","doi-asserted-by":"crossref","unstructured":"Fernando Rodr\u00edguez Guevara, Lili Johana Rueda Jaime, Ignacio Manuel Zarante Montoya. Skeletal dysplasia and associated risk factors Description of 29 cases reported in 6 hospitals from Bogot\u00e1, Cali and Manizales. Universidad Medica Bogota (Colombia). 2011; 52: 169\u201377.","DOI":"10.11144\/Javeriana.umed52-2.defr"},{"key":"10.1016\/j.jgeb.2023.100350_b0080","unstructured":"MinSalud, Instituto Nacional de Salud. Protocolo de Vigilancia de Enfermedades hu\u00e9rfanas-Raras. Codigo 342 [Internet]. 2022 Jan. Available from: https:\/\/www.ins.gov.co\/buscador-eventos\/SitePages\/Evento.aspx?Event=19."},{"key":"10.1016\/j.jgeb.2023.100350_b0085","unstructured":"Ministerio de Salud y Proteccion Social. GOV.CO. 2023. p. 1\u201323 Enfermedades hu\u00e9rfanas."},{"key":"10.1016\/j.jgeb.2023.100350_b0090","unstructured":"Ilumina. Ilumina. 2023. Ilumina. Available from: https:\/\/www.illumina.com\/science\/technology\/next-generation-sequencing.html."},{"key":"10.1016\/j.jgeb.2023.100350_b0095","unstructured":"Nielsen R, Mandrup S. Methods of Adipose Tissue Biology, Part A."},{"key":"10.1016\/j.jgeb.2023.100350_b0100","unstructured":"GeneMANIA. GeneMANIA SLC26A, CLCN7 [Internet]. 2023 [cited 2023 Mar 27]. Available from: https:\/\/genemania.org\/search\/homo-sapiens\/SLC26A2\/CLCN7."},{"key":"10.1016\/j.jgeb.2023.100350_b0105","doi-asserted-by":"crossref","first-page":"W60","DOI":"10.1093\/nar\/gky311","article-title":"GeneMANIA update 2018","volume":"46","author":"Franz","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.jgeb.2023.100350_b0110","unstructured":"GeneCards. SLC26A2 Gene [Internet]. 2023. Available from: https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=SLC26A2."},{"key":"10.1016\/j.jgeb.2023.100350_b0115","unstructured":"National Library of Medicine. National Library of Medicine. 2023 [cited 2023 Mar 21]. p. 1\u20136 SLC26A2 gene. Available from: https:\/\/www.ncbi.nlm.nih.gov\/gene\/1836."},{"key":"10.1016\/j.jgeb.2023.100350_b0120","unstructured":"MedlinePlus. MedlinePlus. 2023 [cited 2023 Mar 21]. p. 1\u20136 SLC26A2 gene. Available from: https:\/\/medlineplus.gov\/genetics\/gene\/slc26a2\/."},{"key":"10.1016\/j.jgeb.2023.100350_b0125","unstructured":"Orphanet. Orphanet. 2023 [cited 2023 Mar 21]. p. 1\u20133 SLC26A2. Available from: https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Genes.php?lng=ES&data_id=15315&MISSING%20CONTENT=SLC26A2&search=Disease_Genes_Simple&title=SLC26A2."},{"key":"10.1016\/j.jgeb.2023.100350_b0130","doi-asserted-by":"crossref","first-page":"2088","DOI":"10.1002\/ajmg.a.36057","volume":"161","author":"Zechi-Ceide","year":"2013","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jgeb.2023.100350_b0135","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1159\/000525020","article-title":"SLC26A2\/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation","volume":"13","author":"Silveira","year":"2023","journal-title":"Mol Syndromol."},{"key":"10.1016\/j.jgeb.2023.100350_b0140","unstructured":"GeneCards. GeneCards. 2023 [cited 2023 Mar 21]. p. 1\u201330 CLCN7 Gene. Available from: https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=CLCN7."},{"key":"10.1016\/j.jgeb.2023.100350_b0145","first-page":"5030","article-title":"Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis","volume":"19","author":"Li","year":"2019","journal-title":"Mol Med Rep."},{"key":"10.1016\/j.jgeb.2023.100350_b0150","first-page":"1251","volume":"Vol. 63","author":"Tachikawa","year":"2021","journal-title":"CLCN7-Related Neuropathic Infantile Osteopetrosis in Siblings"},{"key":"10.1016\/j.jgeb.2023.100350_b0155","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.126180","article-title":"Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2","volume":"4","author":"Pekkinen","year":"2019","journal-title":"JCI Insight"},{"key":"10.1016\/j.jgeb.2023.100350_b0160","unstructured":"ORPHANET. Orphanet. 2023 [cited 2023 Mar 21]. p. 1\u20133 CEP120. Available from: https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Genes.php?lng=ES&data_id=23142&MISSING%20CONTENT=CEP120&search=Disease_Genes_Simple&title=CEP120."},{"key":"10.1016\/j.jgeb.2023.100350_b0165","unstructured":"OMIM. OMIM. 2023. p. 1\u20134 COILED-COIL DOMAIN-CONTAINING PROTEIN 100; CCDC100842 (from NCBI). Available from: https:\/\/www.omim.org\/entry\/613446"},{"key":"10.1016\/j.jgeb.2023.100350_b0170","first-page":"118","article-title":"Joubert syndrome: Molecular basis and treatment","volume":"26","author":"Spahiu","year":"2023","journal-title":"J Mother Child."},{"key":"10.1016\/j.jgeb.2023.100350_b0175","doi-asserted-by":"crossref","first-page":"152","DOI":"10.4103\/jnrp.jnrp_338_17","article-title":"Joubert syndrome with orofacial digital features","volume":"9","author":"Bhardwaj","year":"2018","journal-title":"J Neurosci Rural Pract."},{"key":"10.1016\/j.jgeb.2023.100350_b0180","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.pediatrneurol.2020.01.012","article-title":"Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders","volume":"1","author":"Radha Rama Devi","year":"2020","journal-title":"Pediatr Neurol."},{"key":"10.1016\/j.jgeb.2023.100350_b0185","first-page":"224","article-title":"Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome","volume":"1","author":"Aksu Uzunhan","year":"2023","journal-title":"Clin Neurol Neurosurg."},{"key":"10.1016\/j.jgeb.2023.100350_b0190","first-page":"25","article-title":"The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity","volume":"4","author":"Parisi","year":"2019","journal-title":"Transl Sci Rare Dis."},{"key":"10.1016\/j.jgeb.2023.100350_b0195","article-title":"Understanding Primary Ciliary Dyskinesia and Other Ciliopathies","volume":"1","author":"Horani","year":"2021","journal-title":"J Pediatr"},{"key":"10.1016\/j.jgeb.2023.100350_b0200","doi-asserted-by":"crossref","unstructured":"Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, et al. The morbid genome of ciliopathies: an update; 2020; Available from: https:\/\/doi.org\/10.1038\/s41436-.","DOI":"10.1038\/s41436-020-0761-1"},{"key":"10.1016\/j.jgeb.2023.100350_b0205","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/mgg3.1603","article-title":"Update of genetic variants in CEP120 and CC2D2A\u2014With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies","volume":"9","author":"Barroso-Gil","year":"2021","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.jgeb.2023.100350_b0210","doi-asserted-by":"crossref","first-page":"1962","DOI":"10.2215\/CJN.05660517","article-title":"Prospective evaluation of kidney disease in joubert syndrome","volume":"12","author":"Fleming","year":"2017","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.jgeb.2023.100350_b0215","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/j.ajhg.2019.04.008","article-title":"Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification","volume":"104","author":"Nicoli","year":"2019","journal-title":"Am J Hum Genet."},{"key":"10.1016\/j.jgeb.2023.100350_b0220","unstructured":"Robert R. Sodium and Potassium-Channels and Pumps. From: Methods in Enzymology [Internet]. 2010; 2012. Available from: https:\/\/www.sciencedirect.com\/topics\/biochemistry-genetics-and-molecular-biology\/transmembrane-transporters."},{"key":"10.1016\/j.jgeb.2023.100350_b0225","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1073\/pnas.0610349104","article-title":"Transmembrane transporters: An open and closed case","volume":"104","author":"Stroud","year":"2007","journal-title":"PNAS [internet]."},{"key":"10.1016\/j.jgeb.2023.100350_b0230","doi-asserted-by":"crossref","unstructured":"Guan L. Structure and mechanism of membrane transporters. Vol. 12, Scientific Reports. Nature Research; 2022.","DOI":"10.1038\/s41598-022-17524-1"},{"key":"10.1016\/j.jgeb.2023.100350_b0235","unstructured":"GeneMANIA. GeneMANIA report: CLCN7 , SLC26A2 , CEP120 [Internet]. 2023 [cited 2023 Mar 21]. Available from: https:\/\/genemania.org\/search\/homo-sapiens\/CEP120\/SLC26A2\/CLCN7."},{"key":"10.1016\/j.jgeb.2023.100350_b0240","unstructured":"ZFIN. Inorganic Anion Antitransporter activity [Internet]; 2023 [cited 2023 Mar 21]. Available from: https:\/\/zfin.org\/."},{"key":"10.1016\/j.jgeb.2023.100350_b0245","unstructured":"Mar\u00eda del Mar Fenollar Cort\u00e9s. Genes asociados a displasias esquel\u00e9ticas. Diagn\u00f3stico e implicaci\u00f3n en el asesoramiento gen\u00e9tico (1998-2012) [Tesis Doctoral]. [Madrid]: Universdiad Autonoma de Madrid; 2015."}],"container-title":["Journal of Genetic Engineering and Biotechnology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1687157X23015214?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1687157X23015214?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T13:40:06Z","timestamp":1761658806000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1687157X23015214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":49,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["S1687157X23015214"],"URL":"https:\/\/doi.org\/10.1016\/j.jgeb.2023.100350","relation":{},"ISSN":["1687-157X"],"issn-type":[{"value":"1687-157X","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetic Engineering and Biotechnology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgeb.2023.100350","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier B.V. on behalf of Academy of Scientific Research and Technology.","name":"copyright","label":"Copyright"}],"article-number":"100350"}}