Search Results - "Hackett, Brian P"
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Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC
Published in Pediatric research (01-09-2018)“…Background Mutations in the NK2 homeobox 1 ( NKX2-1 ) gene are associated with lung disease in infants and children. We hypothesize that disruption of normal…”
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Neuroleptic Malignant Syndrome in a 10-Month-Old Ex-Preterm Infant with Delirium
Published in American journal of perinatology reports (01-07-2024)“…In recent times, atypical antipsychotics are increasingly being used in the neonatal intensive care unit (NICU) for the management of neonatal delirium. As the…”
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Foxj1 regulates basal body anchoring to the cytoskeleton of ciliated pulmonary epithelial cells
Published in Journal of cell science (15-03-2004)“…The forkhead box transcription factor Foxj1 is required for cilia formation and left-right axis determination. To define the role of Foxj1 in ciliogenesis,…”
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Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome
Published in American journal of respiratory cell and molecular biology (01-11-2016)“…Mutations in the ATP-binding cassette transporter A3 gene (ABCA3) result in severe neonatal respiratory distress syndrome and childhood interstitial lung…”
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Roles of the Foxj1 and Inv genes in the left–right determination of internal organs in mice
Published in Biochemical and biophysical research communications (20-01-2006)“…In Foxj1 knockout mice, half show situs solitus while the other half show situs inversus, which means a random determination of the left–right axis. In…”
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Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures
Published in Pediatric research (01-09-2018)“…Background Biallelic deleterious variants in RTTN , which encodes rotatin, are associated with primary microcephaly, polymicrogyria, seizures, intellectual…”
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Risk factors and prognostic significance of altered left ventricular geometry in preterm infants
Published in Journal of perinatology (01-05-2018)“…Objective: Left ventricular (LV) hypertrophy (LVH) predicts adverse cardiac events in adults. We sought to determine the risk factors and prognostic…”
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IL-13 Regulates Cilia Loss and foxj1 Expression in Human Airway Epithelium
Published in American journal of respiratory cell and molecular biology (01-09-2007)“…Mucociliary clearance is essential to the defense mechanisms of the respiratory system. Loss of normal mucociliary clearance contributes to the pathogenesis of…”
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Surfactant Protein-C Promoter Variants Associated With Neonatal Respiratory Distress Syndrome Reduce Transcription
Published in Pediatric research (01-09-2010)“…Dominant mutations in coding regions of the surfactant protein-C gene, SFTPC , cause respiratory distress syndrome (RDS) in infants. However, the contribution…”
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Progressive Lung Disease and Surfactant Dysfunction with a Deletion in Surfactant Protein C Gene
Published in American journal of respiratory cell and molecular biology (01-06-2004)“…Mutations in the surfactant protein (SP)-C gene are responsible for familial and sporadic interstitial lung disease (ILD). The consequences of such mutations…”
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Left–right axis malformations in man and mouse
Published in Current Opinion in Genetics & Development (01-06-2000)“…The study of left–right axis malformations in man and mouse has greatly advanced understanding of the mechanisms regulating vertebrate left–right axis…”
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Foxj1 regulates asymmetric gene expression during left–right axis patterning in mice
Published in Biochemical and biophysical research communications (26-11-2004)“…Mice with a targeted mutation of the foxj1 gene demonstrate either D- or L-looping of the embryonic cardiac tube. Foxj1 is expressed in ventral cells of the…”
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Formation and malformation of the vertebrate left-right axis
Published in Current molecular medicine (01-02-2002)“…Despite an externally symmetric body plan, the internal viscera of all vertebrates are asymmetric with respect to the left-right body axis. Determination of…”
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Primary Structure of Hepatocyte Nuclear Factor/Forkhead Homologue 4 and Characterization of Gene Expression in the Developing Respiratory and Reproductive Epithelium
Published in Proceedings of the National Academy of Sciences - PNAS (09-05-1995)“…Members of the winged helix/forkhead family of transcription factors are believed to play a role in cell-specific gene expression. A cDNA encoding a member of…”
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A human forkhead/winged-helix transcription factor expressed in developing pulmonary and renal epithelium
Published in The American journal of physiology (01-03-1998)“…Members of the forkhead/winged-helix transcription factor family play crucial roles during vertebrate development. A human hepatocyte nuclear factor/forkhead…”
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Cell-Specific Expression of a Clara Cell Secretory Protein-Human Growth Hormone Gene in the Bronchiolar Epithelium of Transgenic Mice
Published in Proceedings of the National Academy of Sciences - PNAS (01-10-1992)“…Clara cell secretory protein (CCSP) is an abundant 10-kDa protein synthesized and secreted by nonciliated epithelial cells lining the respiratory and terminal…”
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Structural Characterization of the MouseHfh4Gene, a Developmentally Regulated Forkhead Family Member
Published in Genomics (San Diego, Calif.) (01-11-1997)“…Hepatocyte nuclear factor-3/forkhead homologue 4 (HFH-4) is a forkhead/winged-helix transcription factor family member that has a unique temporal and spatial…”
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Intraoperative localization of small intestinal bleeding in an infant by methylene blue injection: A case report
Published in Journal of pediatric surgery (01-05-1998)“…During the evaluation of patients with profuse gastrointestinal bleeding, it is often difficult to accurately localize bleeding sites in the small intestine…”
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Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry
Published in The Journal of clinical investigation (15-09-1998)“…Winged helix transcription factors play important roles in cellular differentiation and cell-specific gene expression. To define the role of the winged helix…”
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Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription
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