Search Results - "Goetz, Sarah C."
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The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of Ciliogenesis
Published in Cell (09-11-2012)“…The primary cilium has critical roles in human development and disease, but the mechanisms that regulate ciliogenesis are not understood. Here, we show that…”
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TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons
Published in eLife (14-01-2020)“…Primary cilia are vital signaling organelles that extend from most types of cells, including neurons and glia. These structures are essential for development…”
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Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability
Published in PLoS genetics (10-12-2018)“…Spinocerebellar ataxia type 11 (SCA11) is a rare, dominantly inherited human ataxia characterized by atrophy of Purkinje neurons in the cerebellum. SCA11 is…”
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The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling
Published in PloS one (14-03-2017)“…The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders…”
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Multiple ciliary localization signals control INPP5E ciliary targeting
Published in eLife (05-09-2022)“…Primary cilia are sensory membrane protrusions whose dysfunction causes ciliopathies. INPP5E is a ciliary phosphoinositide phosphatase mutated in ciliopathies…”
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The Primary Cilium as a Hedgehog Signal Transduction Machine
Published in Methods in Cell Biology (2009)“…The Hedgehog (Hh) signal transduction pathway is essential for the development and patterning of numerous organ systems, and has important roles in a variety…”
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Book Chapter Journal Article -
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The primary cilium: a signalling centre during vertebrate development
Published in Nature reviews. Genetics (01-05-2010)“…Key Points Over the past 10 years, primary cilia have been found to be required for hedgehog (Hh) signalling during development and have been implicated in…”
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TBX5 is required for embryonic cardiac cell cycle progression
Published in Development (Cambridge) (01-07-2006)“…Despite the critical importance of TBX5 in normal development and disease, relatively little is known about the mechanisms by which TBX5 functions in the…”
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TTBK2 controls cilium stability by regulating distinct modules of centrosomal proteins
Published in Molecular biology of the cell (01-01-2023)“…The serine-threonine kinase tau tubulin kinase 2 (TTBK2) is a key regulator of the assembly of primary cilia, which are vital signaling organelles. TTBK2 is…”
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A complex of distal appendage–associated kinases linked to human disease regulates ciliary trafficking and stability
Published in Proceedings of the National Academy of Sciences - PNAS (20-04-2021)“…Cilia biogenesis is a complex, multistep process involving the coordination of multiple cellular trafficking pathways. Despite the importance of ciliogenesis…”
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Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis
Published in Development (Cambridge) (01-02-2005)“…Members of the T-box family of proteins play a fundamental role in patterning the developing vertebrate heart; however, the precise cellular requirements for…”
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Cardiac Progenitors and the Embryonic Cell Cycle
Published in Cell cycle (Georgetown, Tex.) (15-08-2007)“…Despite the critical importance of proper cell cycle regulation in establishing the correct morphology of organs and tissues during development, relatively…”
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SHP-2 is required for the maintenance of cardiac progenitors
Published in Development (Cambridge) (01-11-2007)“…The isolation and culturing of cardiac progenitor cells has demonstrated that growth factor signaling is required to maintain cardiac cell survival and…”
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A Novel Role of Primary Cilia in Breast Cancer Recurrence
Published in The FASEB journal (01-04-2018)“…Recurrent tumors are the predominant cause of breast cancer‐related deaths, therefore there is an urgent need for more effective therapeutic strategies…”
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Identification and characterization of mutation in tau tubulin kinase 2 affecting cilia formation and hedgehog signaling during development
Published in Developmental biology (15-07-2009)Get full text
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TBX5 is required for embryonic cardiac cell cycle progression
Published in Developmental biology (01-07-2006)Get full text
Journal Article