Search Results - "Dukes-Rimsky L"

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  1. 1

    Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.

    Authors: Lee JJ Lu PN Dukes-Rimsky L et al.

    Source: Disease models & mechanisms [Dis Model Mech] 2026 Feb 01; Vol. 19 (2). Date of Electronic Publication: 2026 Mar 05.

    Publication Type: Journal Article

    Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

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  2. 2

    O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder.

    Authors: Matheny-Rabun C Mokashi SS Radenkovic S et al.

    Source: Cell reports [Cell Rep] 2024 Nov 26; Vol. 43 (11), pp. 114976. Date of Electronic Publication: 2024 Nov 18.

    Publication Type: Journal Article; Research Support, N.I.H., Extramural

    Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

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  3. 3

    Tracer metabolomics reveals the role of aldose reductase in glycosylation.

    Authors: Radenkovic S Ligezka AN Mokashi SS et al.

    Source: Cell reports. Medicine [Cell Rep Med] 2023 Jun 20; Vol. 4 (6), pp. 101056. Date of Electronic Publication: 2023 May 30.

    Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101766894 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-3791 (Electronic) Linking ISSN: 26663791 NLM ISO Abbreviation: Cell Rep Med Subsets: MEDLINE

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  4. 4

    The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders.

    Authors: Ang CE Ma Q Wapinski OL et al.

    Source: ELife [Elife] 2019 Jan 10; Vol. 8. Date of Electronic Publication: 2019 Jan 10.

    Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

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  5. 5

    Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structure.

    Authors: Jones KA Luo Y Dukes-Rimsky L et al.

    Source: PloS one [PLoS One] 2018 Oct 03; Vol. 13 (10), pp. e0203760. Date of Electronic Publication: 2018 Oct 03 (Print Publication: 2018).

    Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

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  6. 6

    Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.

    Authors: Klaver EJ Dukes-Rimsky L Kumar B et al.

    Source: JCI insight [JCI Insight] 2021 Dec 22; Vol. 6 (24). Date of Electronic Publication: 2021 Dec 22.

    Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

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  7. 7

    A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

    Authors: Abad C Cook MM Cao L et al.

    Source: Biology [Biology (Basel)] 2018 May 24; Vol. 7 (2). Date of Electronic Publication: 2018 May 24.

    Publication Type: Journal Article

    Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101587988 Publication Model: Electronic Cited Medium: Print ISSN: 2079-7737 (Print) Linking ISSN: 20797737 NLM ISO Abbreviation: Biology (Basel) Subsets: PubMed not MEDLINE

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  8. 8

    Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

    Authors: Dukes-Rimsky L Guzauskas GF Holden KR et al.

    Source: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Sep; Vol. 155A (9), pp. 2146-53. Date of Electronic Publication: 2011 Aug 10.

    Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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