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6 Result(s)

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  1. No Access

    Article

    Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

    Tin Aung, Christopher Hammond and colleagues report the results of a large genome-wide association study of intraocular pressure. They identify four new loci associated with this trait and show that three of t...

    Pirro G Hysi, Ching-Yu Cheng, Henriët Springelkamp, Stuart Macgregor… in Nature Genetics (2014)

  2. No Access

    Article

    Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study

    Dyslipidemia in Gaucher disease includes reduced total, low-density lipoprotein (LDL)-, and high-density lipoprotein (HDL)-cholesterol (C). No prospective analysis of lipid profile changes in treatment-naïve p...

    Anca Zimmermann, Paula Grigorescu-Sido… in Journal of Inherited Metabolic Disease (2013)

  3. No Access

    Article

    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

    Stuart Macregor, Tien Wong and colleagues report meta-analyses that identify 16 new loci associated with central corneal thickness. They also identify two loci associated with risk of develo** keratoconus, a...

    Yi Lu, Veronique Vitart, Kathryn P Burdon, Chiea Chuen Khor… in Nature Genetics (2013)

  4. Article

    Open Access

    Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

    Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Cauc...

    Virginie J. M. Verhoeven, Pirro G. Hysi, Seang-Mei Saw, Veronique Vitart… in Human Genetics (2012)

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  5. No Access

    Article

    Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice

    Mutations in the gene encoding ATP-binding cassette transporter 1 ( ABC1) have been reported in Tangier disease1,2,3 (TD), an autosomal recessive disorder that is characterized by almost complete absence of plasm...

    Evelyn Orsó, Cyril Broccardo, Wolfgang E. Kaminski, Alfred Böttcher… in Nature Genetics (2000)

  6. No Access

    Article

    The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

    Tangier disease (TD) is an autosomal recessive disorder of lipid metabolism1. It is characterized by absence of plasma high-density lipoprotein (HDL) and deposition of cholesteryl esters in the reticulo-endotheli...

    Marek Bodzioch, Evelyn Orsó, Jochen Klucken, Thomas Langmann… in Nature Genetics (1999)