{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:42:06Z","timestamp":1760240526523,"version":"build-2065373602"},"reference-count":12,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T00:00:00Z","timestamp":1562803200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Data"],"abstract":"<jats:p>Gastroschisis is one of the most prevalent human birth defects concerning the ventral body wall development. Recent research has given a better understanding of gastroschisis pathogenesis through the identification of multiple novel pathogenetic pathways implicated in ventral body wall closure. Deciphering the underlying genetic factors segregating among familial gastroschisis allows better detection of novel susceptibility variants than the screening of pooled unrelated cases and controls, whereas bioinformatic-aided analysis can help to address new insights into human biology and molecular mechanisms involved in gastroschisis. Technological advances in DNA sequencing (Next Generation Sequencing), computing power, and machine learning techniques provide opportunities to the scientific communities to assess significant gaps in research and clinical practice. Thus, in an effort to study the role of gene variation in gastroschisis, we employed whole exome sequencing in a Mexican family with recurrence for gastroschisis. Stringent bioinformatic analyses were implemented to identify and predict pathogenetic networks comprised of potential gastroschisis predispositions. This is the first database for gene variants and metabolic networks implicated in familial gastroschisis. The dataset provides information on gastroschisis annotated genes, gene variants, and metabolic networks and constitutes a useful source to enhance further investigations in gastroschisis.<\/jats:p>","DOI":"10.3390\/data4030097","type":"journal-article","created":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T11:28:28Z","timestamp":1562844508000},"page":"97","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Database for Gene Variants and Metabolic Networks Implicated in Familial Gastroschisis"],"prefix":"10.3390","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4852-8026","authenticated-orcid":false,"given":"V\u00edctor M.","family":"Salinas-Torres","sequence":"first","affiliation":[{"name":"Department of Genetics, School of Medicine and University Hospital \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Ave. Madero y Gonzalitos S\/N Col. Mitras Centro, Monterrey CP 64460, Nuevo Le\u00f3n, Mexico"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7816-4967","authenticated-orcid":false,"given":"Hugo L.","family":"Gallardo-Blanco","sequence":"additional","affiliation":[{"name":"Department of Genetics, School of Medicine and University Hospital \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Ave. Madero y Gonzalitos S\/N Col. Mitras Centro, Monterrey CP 64460, Nuevo Le\u00f3n, Mexico"}]},{"given":"Rafael A.","family":"Salinas-Torres","sequence":"additional","affiliation":[{"name":"Department of Systems and Computing, Instituto Tecnol\u00f3gico de Tijuana, Calzada del Tecnol\u00f3gico S\/N Fracc. Tomas Aquino, Tijuana CP 22414, Baja California, Mexico"}]},{"given":"Laura E.","family":"Mart\u00ednez de Villarreal","sequence":"additional","affiliation":[{"name":"Department of Genetics, School of Medicine and University Hospital \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Ave. Madero y Gonzalitos S\/N Col. Mitras Centro, Monterrey CP 64460, Nuevo Le\u00f3n, Mexico"}]}],"member":"1968","published-online":{"date-parts":[[2019,7,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.jpag.2017.12.013","article-title":"Prevalence, mortality, and spatial distribution of gastroschisis in Mexico","volume":"31","year":"2018","journal-title":"J. Pediatr. Adolesc. Gynecol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.jpedsurg.2017.08.021","article-title":"Evaluation of familial factors in a Mexican population-based setting with gastroschisis: Further evidence for an underlying genetic susceptibility","volume":"53","year":"2018","journal-title":"J. Pediatr. Surg."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s00383-018-4224-6","article-title":"Familial occurrence of gastroschisis: A population-based overview on recurrence risk, sex-dependent influence, and geographical distribution","volume":"34","year":"2018","journal-title":"Pediatr. Surg. Int."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/s00383-018-4247-z","article-title":"Genetic variants conferring susceptibility to gastroschisis: A phenomenon restricted to the interaction with the environment?","volume":"34","year":"2018","journal-title":"Pediatr. Surg. Int."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1007\/s00383-018-4331-4","article-title":"A clinical-pathogenetic approach on associated anomalies and chromosomal defects supports novel candidate critical regions and genes for gastroschisis","volume":"34","year":"2018","journal-title":"Pediatr. Surg. Int."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Salinas-Torres, V.M., Gallardo-Blanco, H.L., Salinas-Torres, R.A., Cerda-Flores, R.M., Lugo-Trampe, J.J., Villarreal-Mart\u00ednez, D.Z., and Mart\u00ednez de Villarreal, L.E. (2019). Bioinformatic analysis of gene variants from gastroschisis recurrence identifies multiple novel pathogenetic pathways: Implication for the closure of the ventral body wall. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20092295"},{"key":"ref_7","unstructured":"Salinas-Torres, V.M., Gallardo-Blanco, H.L., Salinas-Torres, R.A., and Mart\u00ednez de Villarreal, L.E. (2019, July 06). Dataset for Genes and Gene Variants from Familial Gastroschisis (Version 3). Available online: http:\/\/doi.org\/10.5281\/zenodo.3270692."},{"key":"ref_8","unstructured":"(2018, August 31). SNP & Variation Suite\u2122 (Version 8.x). Available online: http:\/\/www.goldenhelix.com."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"D754","DOI":"10.1093\/nar\/gkx1098","article-title":"Ensembl 2018","volume":"46","author":"Zerbino","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"D183","DOI":"10.1093\/nar\/gkw1138","article-title":"PANTHER version 11: Expanded annotation data from Gene Ontology and Reactome pathways, and data analysis tool enhancements","volume":"45","author":"Mi","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"D362","DOI":"10.1093\/nar\/gkw937","article-title":"The STRING database in 2017: Quality-controlled protein-protein association networks, made broadly accessible","volume":"45","author":"Szklarczyk","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"W305","DOI":"10.1093\/nar\/gkp427","article-title":"ToppGene Suite for gene list enrichment analysis and candidate gene prioritization","volume":"37","author":"Chen","year":"2009","journal-title":"Nucleic Acids Res."}],"container-title":["Data"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2306-5729\/4\/3\/97\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:04:32Z","timestamp":1760187872000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2306-5729\/4\/3\/97"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,11]]},"references-count":12,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,9]]}},"alternative-id":["data4030097"],"URL":"https:\/\/doi.org\/10.3390\/data4030097","relation":{},"ISSN":["2306-5729"],"issn-type":[{"type":"electronic","value":"2306-5729"}],"subject":[],"published":{"date-parts":[[2019,7,11]]}}}