A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Autorzy:
Hardcastle AJ; UCL Institute of Ophthalmology, London, UK. .; Moorfields Eye Hospital, NHS Foundation Trust, London, UK. . Liskova P; UCL Institute of Ophthalmology, London, UK.; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. Bykhovskaya Y; The Cornea Eye Institute, Beverly Hills, CA, USA.; Department of Surgery and Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. McComish BJ; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia. Davidson AE; UCL Institute of Ophthalmology, London, UK. Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. Li X; Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA, USA. Choquet H; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA. Habeeb M; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Center GD, Rotterdam, The Netherlands. Lucas SEM; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia. Sahebjada S; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia. Pontikos N; UCL Institute of Ophthalmology, London, UK. Lopez KER; UCL Institute of Ophthalmology, London, UK. Khawaja AP; UCL Institute of Ophthalmology, London, UK.; Moorfields Eye Hospital, NHS Foundation Trust, London, UK.; NIHR Biomedical Research Centre, Moorfields Eye Hospital, London, UK. Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. Skalicka P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. Van Dooren BTH; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands.; Amphia Hospital, Breda, The Netherlands. Geerards AJM; The Rotterdam Eye Hospital, Rotterdam, The Netherlands. Haudum CW; Division of Endocrinology and Diabetology, Endocrinology Lab Platform, Department of Internal Medicine, Medical University of Graz, Graz, Austria. Faro VL; Department of Ophthalmology, University Medical Center Groningen (UMCG), Groningen, the Netherlands.; Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands. Tenen A; Vision Eye Institute, Melbourne, VIC, Australia.; School of Primary and Allied Health Care, Monash University, Melbourne, VIC, Australia.; Melbourne Stem Cell Centre, Melbourne, VIC, 3800, Australia. Simcoe MJ; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. Patasova K; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. Yarrand D; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. Yin J; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA. Siddiqui S; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Department of Ophthalmology, St James's University Hospital, Leeds, UK. Rice A; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. Farraj LA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. Chen YI; Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA, USA. Rahi JS; UCL Great Ormond Street Hospital Institute of Child Health, London, UK. Krauss RM; Oakland Research Institute, Oakland, CA, USA. Theusch E; Oakland Research Institute, Oakland, CA, USA. Charlesworth JC; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia. Szczotka-Flynn L; Department of Ophthalmology, Case Western Reserve University, Cleveland, OH, USA. Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK. Meester-Smoor MA; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Center GD, Rotterdam, The Netherlands. Richardson AJ; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia. Mitchell PA; Centre for Vision Research, Department of Ophthalmology, Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, Australia. Taylor KD; Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA, USA. Melles RB; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA. Aldave AJ; The Jules Stein Institute, University of California Los Angeles, Los Angeles, CA, USA. Mills RA; Department of Ophthalmology, Flinders University, Adelaide, SA, Australia. Cao K; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia. Chan E; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia. Daniell MD; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia. Wang JJ; Health Services and Systems Research, Duke-NUS Medical School, Singapore, Singapore. Rotter JI; Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA, USA. Hewitt AW; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Vision Eye Institute, Melbourne, VIC, Australia.; School of Primary and Allied Health Care, Monash University, Melbourne, VIC, Australia.; Melbourne Stem Cell Centre, Melbourne, VIC, 3800, Australia. MacGregor S; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. Klaver CCW; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Center GD, Rotterdam, The Netherlands. Ramdas WD; Department of Ophthalmology, Erasmus Medical Center GD, Rotterdam, The Netherlands. Craig JE; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Department of Ophthalmology, Flinders University, Adelaide, SA, Australia. Iyengar SK; Department of Ophthalmology, Case Western Reserve University, Cleveland, OH, USA. O'Brart D; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.; St Thomas Hospital, Guy's and St. Thomas NHS Trust, London, London, UK. Jorgenson E; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA. Baird PN; Department of Surgery, Ophthalmology, University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia. RabinowitzYS; The Cornea Eye Institute, Beverly Hills, CA, USA.; Department of Surgery and Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Burdon KP; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Department of Ophthalmology, Flinders University, Adelaide, SA, Australia. Hammond CJ; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK.; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.; St Thomas Hospital, Guy's and St. Thomas NHS Trust, London, London, UK. Tuft SJ; UCL Institute of Ophthalmology, London, UK. .; Moorfields Eye Hospital, NHS Foundation Trust, London, UK. . Hysi PG; Section of Ophthalmology, School of Life Course Sciences, King's College London, London, UK. .; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. .; UCL Great Ormond Street Hospital Institute of Child Health, London, UK. .
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Źródło:
Communications biology [Commun Biol] 2021 Mar 01; Vol. 4 (1), pp. 266. Date of Electronic Publication: 2021 Mar 01.
Typ publikacji:
Journal Article; Meta-Analysis; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Autorzy:
Khaled ML; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA.; Department of Biochemistry, Faculty of Pharmacy, Cairo University, Cairo, Egypt. Bykhovskaya Y; Department of Surgery and Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Gu C; Inositol Signaling Group, Signal Transduction Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA. Liu A; Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA. Drewry MD; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA. Chen Z; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA. Mysona BA; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA.; James and Jean Culver Vision Discovery Institute, Augusta University, Augusta, GA, USA. Parker E; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA. McNabb RP; Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA. Yu H; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA. Lu X; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA. Wang J; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA. Li X; Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics and Medicine at Harbor-UCLA, Torrance, CA, USA. Al-Muammar A; Department of Ophthalmology, Glaucoma Research Chair, King Saud University, Riyadh, Saudi Arabia. Rotter JI; Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics and Medicine at Harbor-UCLA, Torrance, CA, USA. Porter LF; Department of Eye and Vision Science, University of Liverpool, and St Paul's Eye Unit, Royal Liverpool Hospital, Liverpool, UK. Estes A; James and Jean Culver Vision Discovery Institute, Augusta University, Augusta, GA, USA.; Department of Ophthalmology, Augusta University, Augusta, GA, USA. Watsky MA; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA.; James and Jean Culver Vision Discovery Institute, Augusta University, Augusta, GA, USA. Smith SB; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA.; James and Jean Culver Vision Discovery Institute, Augusta University, Augusta, GA, USA.; Department of Ophthalmology, Augusta University, Augusta, GA, USA. Xu H; Department of Population Health Science, Augusta University, Augusta, GA, USA. Abu-Amero KK; Department of Ophthalmology, Glaucoma Research Chair, King Saud University, Riyadh, Saudi Arabia. Kuo A; Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA. Shears SB; Inositol Signaling Group, Signal Transduction Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA. RabinowitzYS; Department of Surgery and Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. yaron.rabinowitz@cshs.org. Liu Y; Department of Cellular Biology and Anatomy, Augusta University, Augusta, GA, USA. .; James and Jean Culver Vision Discovery Institute, Augusta University, Augusta, GA, USA. .; Center for Biotechnology and Genomic Medicine, Augusta University, Augusta, GA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2019 Dec 18; Vol. 9 (1), pp. 19406. Date of Electronic Publication: 2019 Dec 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Linkage Analysis of High-density SNPs Confirms Keratoconus Locus at 5q Chromosomal Region.
Autorzy:
Bykhovskaya Y; a Cornea Genetic Eye Institute , Beverly Hills , California, 90211 , USA .; b Regenerative Medicine Institute, Department of Surgery, Cedars-Sinai Medical Center , Los Angeles , California, 90048 , USA . Li X; a Cornea Genetic Eye Institute , Beverly Hills , California, 90211 , USA .; c Institute for Translational Genomics and Population Sciences, Biomedical Research Institute, Harbor-UCLA Medical Center , Los Angeles California, 90502 , USA , and. Taylor KD; c Institute for Translational Genomics and Population Sciences, Biomedical Research Institute, Harbor-UCLA Medical Center , Los Angeles California, 90502 , USA , and. Haritunians T; d Immunobiology Research Institute, Department of Medicine, Cedars-Sinai Medical Center , Los Angeles , California, 90048 , USA. Rotter JI; c Institute for Translational Genomics and Population Sciences, Biomedical Research Institute, Harbor-UCLA Medical Center , Los Angeles California, 90502 , USA , and. RabinowitzYS; a Cornea Genetic Eye Institute , Beverly Hills , California, 90211 , USA .; b Regenerative Medicine Institute, Department of Surgery, Cedars-Sinai Medical Center , Los Angeles , California, 90048 , USA .
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2016; Vol. 37 (1), pp. 109-10. Date of Electronic Publication: 2014 Feb 20.
Typ publikacji:
Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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