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Functional Characterization of a Novel Homozygous DNAH5 Single-Nucleotide Intronic Deletion in a Consanguineous Portuguese Family with Primary Ciliary Dyskinesia.

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Title: Functional Characterization of a Novel Homozygous DNAH5 Single-Nucleotide Intronic Deletion in a Consanguineous Portuguese Family with Primary Ciliary Dyskinesia.
Authors: Hilário C; Department of Pulmonology, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Hospital de Vila Real, Avenida da Noruega, Lordelo, 5000-508 Vila Real, Portugal., Raimundo S; Department of Pulmonology, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Hospital de Vila Real, Avenida da Noruega, Lordelo, 5000-508 Vila Real, Portugal., Dias C; Department of Pulmonology, Unidade Local de Saúde de Santo António, Largo Professor Abel Salazar, 4099-001 Porto, Portugal.; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal., Saramago J; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal., Oliveira T; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal., Pereira R; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; ANI-Agência Nacional de Inovação, Rua de Salazares 842, 4149-002 Porto, Portugal., Quental S; IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal.; i3S-Institute for Investigation and Innovation in Health, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal., Freixo JP; i3S-Institute for Investigation and Innovation in Health, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.; CGPP-Center for Predictive and Preventive Genetics, IBMC-Institute of Molecular and Cell Biology, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal., Gales L; i3S-Institute for Investigation and Innovation in Health, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.; Department of Chemistry, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; Bioengineering and Synthetic Microbiology Group, IBMC-Institute of Cellular and Molecular Biology, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal., Oliveira J; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; i3S-Institute for Investigation and Innovation in Health, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.; CGPP-Center for Predictive and Preventive Genetics, IBMC-Institute of Molecular and Cell Biology, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal., Sá R; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; Centro Hospitalar Universitário de São João, Unidade Local de Saúde de São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal., Sousa M; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.
Source: Cells [Cells] 2026 Jun 02; Vol. 15 (11). Date of Electronic Publication: 2026 Jun 02.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Group: Ti
  Data: Functional Characterization of a Novel Homozygous DNAH5 Single-Nucleotide Intronic Deletion in a Consanguineous Portuguese Family with Primary Ciliary Dyskinesia.
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  Data: <searchLink fieldCode="AU" term="%22Hilário+C%22">Hilário C</searchLink>; Department of Pulmonology, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Hospital de Vila Real, Avenida da Noruega, Lordelo, 5000-508 Vila Real, Portugal.<br /><searchLink fieldCode="AU" term="%22Raimundo+S%22">Raimundo S</searchLink>; Department of Pulmonology, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Hospital de Vila Real, Avenida da Noruega, Lordelo, 5000-508 Vila Real, Portugal.<br /><searchLink fieldCode="AU" term="%22Dias+C%22">Dias C</searchLink>; Department of Pulmonology, Unidade Local de Saúde de Santo António, Largo Professor Abel Salazar, 4099-001 Porto, Portugal.; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Saramago+J%22">Saramago J</searchLink>; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Oliveira+T%22">Oliveira T</searchLink>; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Pereira+R%22">Pereira R</searchLink>; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; ANI-Agência Nacional de Inovação, Rua de Salazares 842, 4149-002 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Quental+S%22">Quental S</searchLink>; IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Rua Júlio Amaral de Carvalho 45, 4200-135 Porto, Portugal.; i3S-Institute for Investigation and Innovation in Health, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Freixo+JP%22">Freixo JP</searchLink>; i3S-Institute for Investigation and Innovation in Health, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.; CGPP-Center for Predictive and Preventive Genetics, IBMC-Institute of Molecular and Cell Biology, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Gales+L%22">Gales L</searchLink>; i3S-Institute for Investigation and Innovation in Health, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.; Department of Chemistry, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; Bioengineering and Synthetic Microbiology Group, IBMC-Institute of Cellular and Molecular Biology, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Oliveira+J%22">Oliveira J</searchLink>; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; i3S-Institute for Investigation and Innovation in Health, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.; CGPP-Center for Predictive and Preventive Genetics, IBMC-Institute of Molecular and Cell Biology, University of Porto, Rua Alfredo Allen, 4200-135 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Sá+R%22">Sá R</searchLink>; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; Centro Hospitalar Universitário de São João, Unidade Local de Saúde de São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Sousa+M%22">Sousa M</searchLink>; UMIB-Unit for Multidisciplinary Research in Biomedicine, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.; ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, Rua das Taipas 135, 4050-600 Porto, Portugal.; Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua de Jorge de Viterbo Ferreira, 4050-346 Porto, Portugal.
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