{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T11:08:08Z","timestamp":1780916888983,"version":"3.54.1"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,19]],"date-time":"2020-02-19T00:00:00Z","timestamp":1582070400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,19]],"date-time":"2020-02-19T00:00:00Z","timestamp":1582070400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004809","name":"Financiadora de Estudos e Projetos","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias at early age. Cytogenetic test for sister chromatid exchanges (SCEs) is used as a diagnostic marker for BS. In addition, most patients also present mutations in the\u202f\n                      <jats:italic>BLM<\/jats:italic>\n                      \u202fgene, related to defects in the DNA repair mechanism. However, the molecular mechanism behind the pathogenicity of BS is\u202fstill\u202fnot completely understood.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We describe two\u00a0patients confirmed with BS by SCE and molecular analysis. Also, we performed the gene expression profile by\u00a0the RNA\u2010seq\u00a0methodology in mRNA transcripts for differential gene expression analysis using as a biological condition for comparison BS versus health controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We detected 216 differentially expressed genes related to immunological pathways such as positive regulation and activation of B cells, immune effector process and absence of difference of DNA repair genes expression.\u00a0In addition; we also observed differentially expressed genes associated with apoptosis control, such as\n                      <jats:italic>BCL2L1<\/jats:italic>\n                      ,\u00a0\n                      <jats:italic>CASP7<\/jats:italic>\n                      ,\u00a0\n                      <jats:italic>CDKN1A<\/jats:italic>\n                      ,\u00a0\n                      <jats:italic>E2F2<\/jats:italic>\n                      ,\n                      <jats:italic>ITPR, CD274<\/jats:italic>\n                      ,\n                      <jats:italic>TNFAIP6<\/jats:italic>\n                      ,\n                      <jats:italic>TNFRSF25, TNFRSF13C,<\/jats:italic>\n                      and\n                      <jats:italic>TNFRSF<\/jats:italic>\n                      17.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our results suggest that the combination of altered expression of genes involved in signaling pathways of immune response and apoptosis control may contribute directly to the main characteristics observed in BS, such as recurrent infections, growth failure, and high risk of cancer. Transcriptome studies of other instability syndromes could allow a more accurate analysis of the relevant gene interactions associated with the destabilization of the genome. This is a first description of the profile of differential gene expression related to immunological aspects detected in patients with BS by RNA\u2010seq.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1133","type":"journal-article","created":{"date-parts":[[2020,2,19]],"date-time":"2020-02-19T09:18:07Z","timestamp":1582103887000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3833-7234","authenticated-orcid":false,"given":"Marilia M.","family":"Montenegro","sequence":"first","affiliation":[{"name":"Laboratorio de Citogenomica Departamento de Patologia Faculdade de Medicina FMUSP Universidade de Sao Paulo Sao Paulo SP Brazil"},{"name":"Unidade de Genetica Departamento de Pediatria Instituto da Crianca, Hospital das Clinicas HCFMUSP Faculdade de Medicina Universidade de Sao Paulo Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caio R.","family":"Quaio","sequence":"additional","affiliation":[{"name":"Unidade de Genetica Departamento de Pediatria Instituto da Crianca, Hospital das Clinicas HCFMUSP Faculdade de Medicina Universidade de Sao Paulo Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Palmeira","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Pediatria Cl\u00ednica Departamento de Pediatria Instituto da Crianca, Hospital das Clinicas HCFMUSP Faculdade de Medicina Universidade de Sao Paulo Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanca","family":"Gasparini","sequence":"additional","affiliation":[{"name":"Laboratorio de Citogenomica Departamento de Patologia Faculdade de Medicina FMUSP Universidade de Sao Paulo Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreia","family":"Rangel\u2010Santos","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Pediatria Cl\u00ednica Departamento de Pediatria Instituto da Crianca, Hospital das Clinicas HCFMUSP Faculdade de Medicina Universidade de Sao Paulo Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Damasceno","sequence":"additional","affiliation":[{"name":"Laboratorio de Citogenomica Departamento de Patologia Faculdade de Medicina FMUSP Universidade de Sao Paulo Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estela M.","family":"Novak","sequence":"additional","affiliation":[{"name":"Funda\u00e7\u00e3o Pr\u00f3\u2010Sangue Hemocentro de S\u00e3o Paulo Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thamires M.","family":"Gimenez","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Pesquisa Translacional em Oncohematologia Instituto de Tratamento de Cancer Infantil (ITACI) Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilherme L.","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Unidade de Genetica Departamento de Pediatria Instituto da Crianca, Hospital das Clinicas HCFMUSP Faculdade de Medicina Universidade de Sao Paulo Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel S.","family":"Ronjo","sequence":"additional","affiliation":[{"name":"Unidade de Genetica Departamento de Pediatria Instituto da Crianca, Hospital das Clinicas HCFMUSP Faculdade de Medicina Universidade de Sao Paulo Sao Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil M.","family":"Novo\u2010Filho","sequence":"additional","affiliation":[{"name":"Laboratorio de Citogenomica 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