Roles of ROCK/Myosin Pathway in Macrothrombocytopenia in Bernard-Soulier Syndrome.

Autor: Mekchay P; Division of Hematology, Faculty of Medicine, Excellence Center in Translational Hematology, Chulalongkorn University, Bangkok, Thailand., Ingrungruanglert P; Stem Cell and Cell Therapy Research Unit, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Leela-Adisorn N; Stem Cell and Cell Therapy Research Unit, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Uaprasert N; Division of Hematology, Faculty of Medicine, Excellence Center in Translational Hematology, Chulalongkorn University, Bangkok, Thailand., Israsena N; Stem Cell and Cell Therapy Research Unit, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Rojnuckarin P; Division of Hematology, Faculty of Medicine, Excellence Center in Translational Hematology, Chulalongkorn University, Bangkok, Thailand.

Publikováno v: Thrombosis and haemostasis [Thromb Haemost] 2024 Dec 18. Date of Electronic Publication: 2024 Dec 18.

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.

Autor: Chokvithaya S; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.; Department of Clinical Pathology and Medical Technology Laboratory, Queen Sirikit National Institute of Child Health, Ministry of Public Health, Bangkok, Thailand., Caengprasath N; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand., Buasong A; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand., Jantasuwan S; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand., Santawong K; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand., Leela-Adisorn N; Department of Stem Cell and Cell, Therapy Research Unit, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Tongkobpetch S; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand., Ittiwut C; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand., Saengow VE; Department of Pediatrics, Maharat Nakhon Ratchasima Hospital, Nakhon Ratchasima, Thailand., Kamolvisit W; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand., Boonsimma P; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand. Ponghatai.b@chula.ac.th.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand. Ponghatai.b@chula.ac.th., Bongsebandhu-Phubhakdi S; Department of Physiology, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand. saknan@live.jp.; Chula Neuroscience Center, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand. saknan@live.jp., Shotelersuk V; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.

Publikováno v: Scientific reports [Sci Rep] 2023 Feb 27; Vol. 13 (1), pp. 3328. Date of Electronic Publication: 2023 Feb 27.

Compound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia.

Autor: Ga young Bae¹, Insung Kim¹, Juyoung Sung¹, JiHoon Hwang¹, Min-Sun Kim¹, Ji-Hye Park², Sung Yoon Cho¹ nadri1217@naver.com

Publikováno v: Annals of Pediatric Endocrinology & Metabolism. Oct2024, Vol. 29 Issue 5, p344-346. 3p.

Effects of dental caries on nutritional status among first-grade primary school children.

Autor: Ngoenwiwatkul Y; Department of Community Dentistry, Mahidol University, Bangkok, Thailand. dtynw@mahidol.ac.th, Leela-adisorn N

Publikováno v: Asia-Pacific journal of public health [Asia Pac J Public Health] 2009 Apr; Vol. 21 (2), pp. 177-83. Date of Electronic Publication: 2009 Feb 04.

Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.

Autor: Tsuda S; Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Sakamoto A; Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan. sakamoto-a@ncchd.go.jp.; Division of Hematology, NCCHD, Tokyo, Japan. sakamoto-a@ncchd.go.jp., Kawaguchi H; Department of Pediatrics, National Defense Medical College, Saitama, Japan., Uchiyama T; Department of Human Genetics, NCCHD, Tokyo, Japan., Kaname T; Department of Genome Medicine, NCCHD, Tokyo, Japan., Yanagi K; Department of Genome Medicine, NCCHD, Tokyo, Japan., Kunishima S; Department of Medical Technology, School of Health Sciences, Gifu University of Medical Science, Gifu, Japan., Ishiguro A; Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan. ishiguro-a@ncchd.go.jp.; Division of Hematology, NCCHD, Tokyo, Japan. ishiguro-a@ncchd.go.jp.

Publikováno v: Annals of hematology [Ann Hematol] 2024 Nov 22. Date of Electronic Publication: 2024 Nov 22.