Search Results - "Lim, Young H."
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GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation
Published in American journal of human genetics (04-08-2016)“…Vascular tumors are among the most common neoplasms in infants and children; 5%–10% of newborns present with or develop lesions within the first 3 months of…”
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Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy
Published in Journal of the American Academy of Dermatology (01-01-2020)“…Porokeratosis is associated with mevalonate pathway gene mutations. Therapeutic options are few and often limited in efficacy. We hypothesized that topical…”
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Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child
Published in JAMA dermatology (Chicago, Ill.) (01-02-2019)Get more information
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4
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis
Published in JAMA dermatology (Chicago, Ill.) (01-05-2019)“…Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination…”
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Preparation and in Vitro Antimicrobial Activity of Silver-Bearing Degradable Polymeric Nanoparticles of Polyphosphoester-block-Poly(l‑lactide)
Published in ACS nano (24-02-2015)“…The development of well-defined polymeric nanoparticles (NPs) as delivery carriers for antimicrobials targeting human infectious diseases requires rational…”
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Functional Polycarbonate of a d‑Glucal-Derived Bicyclic Carbonate via Organocatalytic Ring-Opening Polymerization
Published in ACS macro letters (18-07-2017)“…Herein, we demonstrate the synthesis of a bicyclic carbonate monomer of a d-glucal derivative, which originated from the natural product d-glucose, in an…”
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Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
Published in American journal of human genetics (07-11-2019)“…We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic…”
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Development of a Vinyl Ether-Functionalized Polyphosphoester as a Template for Multiple Postpolymerization Conjugation Chemistries and Study of Core Degradable Polymeric Nanoparticles
Published in Macromolecules (22-07-2014)“…A novel polyphosphoester (PPE) with vinyl ether side chain functionality was developed as a versatile template for postpolymerization modifications, and its…”
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Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia
Published in Human molecular genetics (15-01-2014)“…Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-derived hormone that regulates phosphorus homeostasis, result in renal…”
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Four Different Regioisomeric Polycarbonates Derived from One Natural Product, d‑Glucose
Published in Macromolecules (25-10-2016)“…Strategies for the preparation of polycarbonates, derived from the natural product d-glucose, which have the potential to degrade back into their bioresorbable…”
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Surface Charges and Shell Crosslinks Each Play Significant Roles in Mediating Degradation, Biofouling, Cytotoxicity and Immunotoxicity for Polyphosphoester-based Nanoparticles
Published in Scientific reports (22-11-2013)“…The construction of nanostructures from biodegradable precursors and shell/core crosslinking have been pursued as strategies to solve the problems of toxicity…”
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Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy
Published in JAMA dermatology (Chicago, Ill.) (01-11-2015)“…Inhibition of angiogenesis is an effective anticancer strategy because neoplasms require a rich blood supply. Ramucirumab, approved by the US Food and Drug…”
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Assembling a protein-protein interaction map of the SSU processome from existing datasets
Published in PloS one (10-03-2011)“…The small subunit (SSU) processome is a large ribonucleoprotein complex involved in small ribosomal subunit assembly. It consists of the U3 snoRNA and ∼72…”
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Mosaicism in Cutaneous Disorders
Published in Annual review of genetics (27-11-2017)“…Genetic mosaicism arises when a zygote harbors two or more distinct genotypes, typically due to de novo , somatic mutation during embryogenesis. The clinical…”
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Retrospective Analysis of US Litigations Involving Dermatologists From 2011 to 2022
Published in Dermatologic surgery (01-06-2024)“…Physician malpractice lawsuits are climbing, and the reasons underlying litigation against dermatologists are unclear. To determine the reasons patients pursue…”
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Polymeric nanoparticles in development for treatment of pulmonary infectious diseases
Published in Wiley interdisciplinary reviews. Nanomedicine and nanobiotechnology (01-11-2016)“…Serious lung infections, such as pneumonia, tuberculosis, and chronic obstructive cystic fibrosis‐related bacterial diseases, are increasingly difficult to…”
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Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy
Published in Journal of the American Academy of Dermatology (01-08-2016)“…We recently demonstrated multilineage somatic mosaicism in cutaneous skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic nevi,…”
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Revertant mosaicism in genodermatoses
Published in Cellular and molecular life sciences : CMLS (01-06-2017)“…Inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. In most cases, the…”
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Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma
Published in Journal of investigative dermatology (01-06-2015)Get full text
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Expanding the Mutation Spectrum of Ichthyosis with Confetti
Published in Journal of investigative dermatology (01-10-2016)“…Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white,…”
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