The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Autor: Tummala H; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK. h.tummala@qmul.ac.uk.; Barts Health NHS Trust, London, UK. h.tummala@qmul.ac.uk., Walne AJ; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Badat M; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.; Barts Health NHS Trust, London, UK., Patel M; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Walne AM; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Alnajar J; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Chow CC; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Albursan I; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Frost JM; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Ballard D; Department of Analytical, Environmental & Forensic Sciences, Kings College London, Franklin-Wilkins Building, Stamford Street, London, SE1 9NH, UK., Killick S; Department of Haematology, Royal Bournemouth Hospital NHS Foundation Trust, Bournemouth, BH7 7DW, UK., Szitányi P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Prague, Czech Republic., Kelly AM; Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Raghavan M; Clinical Haematology, Queen Elizabeth Hospital, Edgbaston, Birmingham, B15 2TH, UK., Powell C; Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, UK., Raymakers R; University Medical Center Utrecht, 3508 GA, Utrecht, The Netherlands., Todd T; Department of Haematology, Royal Devon and Exeter Hospital, Exeter, EX2 5DW, UK., Mantadakis E; Department of Pediatrics' University General Hospital of Alexandroupolis, Democritus University of Thrace Faculty of Medicine, 6th Kilometer Alexandroupolis-Makris, 68 100 Alexandroupolis, Thrace, Greece., Polychronopoulou S; Department of Pediatric Hematology-Oncology, Aghia Sophia Children's Hospital, Athens, Greece., Pontikos N; Institute of Ophthalmology, Faculty of Brain Sciences, University College London, Gower St, London, WC1E 6BT, UK., Liao T; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Madapura P; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Hossain U; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.; Barts Health NHS Trust, London, UK., Vulliamy T; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK., Dokal I; Centre for Genomics and Child Health, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, Newark Street, London, E12AT, UK.; Barts Health NHS Trust, London, UK.

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2024 Oct; Vol. 16 (10), pp. 2560-2582. Date of Electronic Publication: 2024 Aug 28.

3D chromatin architecture, BRD4, and Mediator have distinct roles in regulating genome-wide transcriptional bursting and gene network.

Autor: Trzaskoma P; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Jung S; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Pękowska A; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.; Dioscuri Centre for Chromatin Biology and Epigenomics, Nencki Institute of Experimental Biology, Polish Academy of Sciences, 3 Pasteur Street, 02-093 Warsaw, Poland., Bohrer CH; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Wang X; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Naz F; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Dell'Orso S; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Dubois WD; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Olivera A; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Vartak SV; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Zhao Y; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Nayak S; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Overmiller A; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Morasso MI; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Sartorelli V; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Larson DR; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Chow CC; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Casellas R; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., O'Shea JJ; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.

Publikováno v: Science advances [Sci Adv] 2024 Aug 09; Vol. 10 (32), pp. eadl4893. Date of Electronic Publication: 2024 Aug 09.

Circulating metabolomic markers linking diabetic kidney disease and incident cardiovascular disease in type 2 diabetes: analyses from the Hong Kong Diabetes Biobank.

Autor: Jin Q; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China., Lau ESH; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Luk AO; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., Tam CHT; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.; CUHK-SJTU Joint Research Centre in Diabetes Genomics and Precision Medicine, Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Ozaki R; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Lim CKP; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.; CUHK-SJTU Joint Research Centre in Diabetes Genomics and Precision Medicine, Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Wu H; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Chow EYK; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., Kong APS; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., Lee HM; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China., Fan B; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.; CUHK-SJTU Joint Research Centre in Diabetes Genomics and Precision Medicine, Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Ng ACW; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China., Jiang G; School of Public Health (Shenzhen), Sun Yat-sen University, Shenzhen, Guangdong, China., Lee KF; Department of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong, China., Siu SC; Diabetes Centre, Tung Wah Eastern Hospital, Hong Kong, China., Hui G; Diabetes Centre, Tung Wah Eastern Hospital, Hong Kong, China., Tsang CC; Diabetes and Education Centre, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, China., Lau KP; North District Hospital, Hong Kong, China., Leung JY; Department of Medicine and Geriatrics, Ruttonjee Hospital, Hong Kong, China., Tsang MW; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China., Cheung EYN; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China., Kam G; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, China., Lau IT; Tseung Kwan O Hospital, Hong Kong, China., Li JK; Department of Medicine, Yan Chai Hospital, Hong Kong, China., Yeung VTF; Centre for Diabetes Education and Management, Our Lady of Maryknoll Hospital, Hong Kong, China., Lau E; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China., Lo S; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China., Fung S; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, China., Cheng YL; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, China., Chow CC; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China., Yu W; Department of Electronic and Computer Engineering, The Hong Kong University of Science and Technology, Hong Kong, China., Tsui SKW; School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China., Tomlinson B; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Faculty of Medicine, Macau University of Science and Technology, Macau, China., Huang Y; School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China.; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong, China., Lan HY; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., Szeto CC; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., So WY; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China., Jenkins AJ; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; NHMRC Clinical Trials Centre, University of Sydney, Sydney, NSW, Australia.; Baker Heart and Diabetes Institute, Melbourne, VIC, Australia., Fung E; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.; School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China., Muilwijk M; Department of Epidemiology and Data Science, Amsterdam UMC - Location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Health Behaviors & Chronic Diseases Research Program, Amsterdam Public Health, Amsterdam UMC, Amsterdam, the Netherlands., Blom MT; Health Behaviors & Chronic Diseases Research Program, Amsterdam Public Health, Amsterdam UMC, Amsterdam, the Netherlands.; Department of General Practice, Amsterdam UMC - Location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., 't Hart LM; Department of Epidemiology and Data Science, Amsterdam UMC - Location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Health Behaviors & Chronic Diseases Research Program, Amsterdam Public Health, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Biomedical Data Sciences, Section Molecular Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands.; Department of Cell and Chemical Biology, Leiden University Medical Centre, Leiden, the Netherlands., Chan JCN; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China.; CUHK-SJTU Joint Research Centre in Diabetes Genomics and Precision Medicine, Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China., Ma RCW; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. rcwma@cuhk.edu.hk.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China. rcwma@cuhk.edu.hk.; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China. rcwma@cuhk.edu.hk.; CUHK-SJTU Joint Research Centre in Diabetes Genomics and Precision Medicine, Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China. rcwma@cuhk.edu.hk.

Publikováno v: Diabetologia [Diabetologia] 2024 May; Vol. 67 (5), pp. 837-849. Date of Electronic Publication: 2024 Feb 27.

Development of the Parental Experience with Care for Children with Serious Illnesses (PRECIOUS) quality of care measure.

Autor: Ang FJL; Lien Centre for Palliative Care, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore. felicia.ang@u.duke.nus.edu.; Programme in Health Services & Systems Research, Duke-NUS Medical School, Singapore, Singapore. felicia.ang@u.duke.nus.edu., Gandhi M; Lien Centre for Palliative Care, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore.; Programme in Health Services & Systems Research, Duke-NUS Medical School, Singapore, Singapore.; Biostatistics, Singapore Clinical Research Institute, Singapore, Singapore.; Tampere Center for Child, Adolescent, and Maternal Health Research: Global Health Group, Tampere University, Tampere, Finland., Ostbye T; Duke Global Health Institute, Duke University, Durham, USA., Malhotra C; Lien Centre for Palliative Care, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore.; Programme in Health Services & Systems Research, Duke-NUS Medical School, Singapore, Singapore., Malhotra R; Programme in Health Services & Systems Research, Duke-NUS Medical School, Singapore, Singapore.; Centre for Ageing Research and Education, Duke-NUS Medical School, Singapore, Singapore., Chong PH; HCA Hospice Limited, Singapore, Singapore., Amin Z; Department of Neonatology, Khoo Tech Puat-National University Children's Medical Institute, National University Hospital, Singapore, Singapore.; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Chow CC; Children's Complex and Home Care Services, KK Women's & Children's Hospital, Singapore, Singapore., Tan TSZ; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Department of Paediatrics, Khoo Tech Puat-National University Children's Medical Institute, National University Hospital, Singapore, Singapore., Tewani K; Department of Gynaecological Oncology, KK Women's & Children's Hospital, Singapore, Singapore., Finkelstein EA; Lien Centre for Palliative Care, Duke-NUS Medical School, 8 College Road, Singapore, 169857, Singapore.; Programme in Health Services & Systems Research, Duke-NUS Medical School, Singapore, Singapore.; Duke Department of Population Health Sciences, Duke University, Durham, USA.

Publikováno v: BMC palliative care [BMC Palliat Care] 2024 Mar 08; Vol. 23 (1), pp. 66. Date of Electronic Publication: 2024 Mar 08.

Presumed Silicone Oil Droplets After Intravitreal Pegcetacoplan Injections.

Autor: Dessouki A; Retinal Diagnostic Center, Campbell, California., He L; Retinal Diagnostic Center, Campbell, California., Park K; Retinal Diagnostic Center, Campbell, California., Chen H; Retinal Diagnostic Center, Campbell, California., Chow CC; Retinal Diagnostic Center, Campbell, California.

Publikováno v: JAMA ophthalmology [JAMA Ophthalmol] 2023 Nov 01; Vol. 141 (11), pp. 1062-1065.