Search Results - "Lovgren, Alysia Kern"
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Published in Neuron (Cambridge, Mass.) (20-01-2021)“…Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular…”
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2
15-Hydroxyprostaglandin Dehydrogenase Is an in vivo Suppressor of Colon Tumorigenesis
Published in Proceedings of the National Academy of Sciences - PNAS (08-08-2006)“…15-Hydroxyprostaglandin dehydrogenase (15-PGDH) is a prostaglandin-degrading enzyme that is highly expressed in normal colon mucosa but is ubiquitously lost in…”
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3
cPGES/p23 Is Required for Glucocorticoid Receptor Function and Embryonic Growth but Not Prostaglandin E2 Synthesis
Published in Molecular and Cellular Biology (01-06-2007)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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4
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Published in iScience (21-06-2024)“…The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants underlie the neurodevelopmental disorder…”
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5
COX-2-derived prostacyclin protects against bleomycin-induced pulmonary fibrosis
Published in American journal of physiology. Lung cellular and molecular physiology (01-08-2006)“…Prostacyclin is one of a number of lipid mediators elaborated from the metabolism of arachidonic acid by the cyclooxygenase (COX) enzymes. This prostanoid is a…”
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6
cPGES/p23 Is Required for Glucocorticoid Receptor Function and Embryonic Growth but Not Prostaglandin E 2 Synthesis
Published in Molecular and cellular biology (01-06-2007)Get full text
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7
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
Published in American journal of human genetics (05-08-2021)“…The genetic causes of global developmental delay (GDD) and intellectual disability (ID) are diverse and include variants in numerous ion channels and…”
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8
De novoTLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Published in iScience (18-05-2024)“…The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants underlie the neurodevelopmental disorder…”
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9
β-arrestin deficiency protects against pulmonary fibrosis in mice and prevents fibroblast invasion of extracellular matrix
Published in Science translational medicine (16-03-2011)“…Idiopathic pulmonary fibrosis is a progressive disease that causes unremitting extracellular matrix deposition with resulting distortion of pulmonary…”
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10
Prostaglandin E2 protects lower airways against bronchoconstriction
Published in American journal of physiology. Lung cellular and molecular physiology (01-01-2006)“…Prostaglandin E2 (PGE2), similar to beta-adrenergic receptor agonists, can protect airways from bronchoconstriction and resulting increase in airway resistance…”
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11
Determining the role of prostanoids in the pathogenesis of pulmonary fibrosis
Published 01-01-2007“…Idiopathic pulmonary fibrosis is a relentless, fatal disease characterized by alveolar epithelial cell injury, proliferation of mesenchymal cell populations,…”
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Dissertation