{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T20:51:04Z","timestamp":1781211064104,"version":"3.54.1"},"reference-count":82,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T00:00:00Z","timestamp":1557360000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We investigated whether likely pathogenic variants co-segregating with gastroschisis through a family-based approach using bioinformatic analyses were implicated in body wall closure. Gene Ontology (GO)\/Panther functional enrichment and protein-protein interaction analysis by String identified several biological networks of highly connected genes in UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10, AOX1, NOTCH1, HIST1H2BB, RPS3, THBS1, ADCY9, and FGFR4. SVS\u2013PhoRank identified a dominant model in OR10G4 (also as heterozygous de novo), ITIH3, PLEKHG4B, SLC9A3, ITGA2, AOX1, and ALPP, including a recessive model in UGT1A7, UGT1A6, PER2, PTPRD, and UGT1A3. A heterozygous compound model was observed in CDYL, KDM5A, RASGRP1, MYBPC2, PDE4DIP, F5, OBSCN, and UGT1A. These genes were implicated in pathogenetic pathways involving the following GO related categories: xenobiotic, regulation of metabolic process, regulation of cell adhesion, regulation of gene expression, inflammatory response, regulation of vascular development, keratinization, left-right symmetry, epigenetic, ubiquitination, and regulation of protein synthesis. Multiple background modifiers interacting with disease-relevant pathways may regulate gastroschisis susceptibility. Based in our findings and considering the plausibility of the biological pattern of mechanisms and gene network modeling, we suggest that the gastroschisis developmental process may be the consequence of several well-orchestrated biological and molecular mechanisms which could be interacting with gastroschisis predispositions within the first ten weeks of development.<\/jats:p>","DOI":"10.3390\/ijms20092295","type":"journal-article","created":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T08:19:59Z","timestamp":1557389999000},"page":"2295","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Bioinformatic Analysis of Gene Variants from Gastroschisis Recurrence Identifies Multiple Novel Pathogenetic Pathways: Implication for the Closure of the Ventral Body Wall"],"prefix":"10.3390","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4852-8026","authenticated-orcid":false,"given":"V\u00edctor M.","family":"Salinas-Torres","sequence":"first","affiliation":[{"name":"School of Medicine and University Hospital \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Department of Genetics, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Ave. Madero y Gonzalitos S\/N Col. Mitras Centro, Monterrey CP 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7816-4967","authenticated-orcid":false,"given":"Hugo L.","family":"Gallardo-Blanco","sequence":"additional","affiliation":[{"name":"School of Medicine and University Hospital \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Department of Genetics, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Ave. Madero y Gonzalitos S\/N Col. Mitras Centro, Monterrey CP 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael A.","family":"Salinas-Torres","sequence":"additional","affiliation":[{"name":"Instituto Tecnol\u00f3gico de Tijuana, Department of Systems and Computing, Calzada del Tecnol\u00f3gico S\/N Fracc, Tomas Aquino, Tijuana CP 22414, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5275-2592","authenticated-orcid":false,"given":"Ricardo M.","family":"Cerda-Flores","sequence":"additional","affiliation":[{"name":"School of Nursing, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Dr. Jos\u00e9 Eleuterio Gonz\u00e1lez 1500, Mitras Centro, Monterrey CP 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 J.","family":"Lugo-Trampe","sequence":"additional","affiliation":[{"name":"School of Medicine and University Hospital \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Department of Genetics, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Ave. Madero y Gonzalitos S\/N Col. Mitras Centro, Monterrey CP 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel Z.","family":"Villarreal-Mart\u00ednez","sequence":"additional","affiliation":[{"name":"School of Medicine and University Hospital \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Department of Genetics, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Ave. Madero y Gonzalitos S\/N Col. Mitras Centro, Monterrey CP 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Mart\u00ednez de Villarreal","sequence":"additional","affiliation":[{"name":"School of Medicine and University Hospital \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Department of Genetics, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Ave. Madero y Gonzalitos S\/N Col. Mitras Centro, Monterrey CP 64460, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,5,9]]},"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":"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. 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