Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Rungnapa Ittiwut"'
Autor:
Chupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, Tetsuro Matsuhashi, Masaru Shimura, Yohei Sugiyama, Takanori Onuki, Akira Ohtake, Kei Murayama, Nithiwat Vatanavicharn, Waralee Dejputtawat, Nitchanund Tantisirivit, Phawin Kor-anantakul, Wuttichart Kamolvisit, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-6 (2023)
Abstract MRPS23 is a nuclear gene encoding a mitochondrial ribosomal protein. A patient with a mitochondrial disorder was found to carry a variant in MRPS23. More cases are necessary to establish MRPS23 as a mitochondrial disease gene. Of 5134 exomes
Externí odkaz:
https://doaj.org/article/3ffc143198a147598f15385625c81b7d
Autor:
Suramath Isaranuwatchai, Ankanee Chanakul, Chupong Ittiwut, Rungnapa Ittiwut, Chalurmpon Srichomthong, Vorasuk Shotelersuk, Kanya Suphapeetiporn, Kearkiat Praditpornsilpa
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract The spectra of underlying genetic variants for various clinical entities including focal segmental glomerulosclerosis (FSGS) vary among different populations. Here we described the clinical and genetic characteristics of biopsy-proven FSGS p
Externí odkaz:
https://doaj.org/article/198fa89aeaa74b68ad05062bbd9ba8e0
Autor:
Pimpayao Sodsai, Chupong Ittiwut, Vichaya Ruenjaiman, Rungnapa Ittiwut, Watsamon Jantarabenjakul, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Nattiya Hirankarn
Publikováno v:
Emerging Infectious Diseases, Vol 28, Iss 11, Pp 2350-2352 (2022)
A heterozygous nonsense variant in the TIGIT gene was identified in a patient in Thailand who had severe COVID-19, resulting in lower TIGIT expression in T cells. The patient’s T cells produced higher levels of cytokines upon stimulation. This muta
Externí odkaz:
https://doaj.org/article/cb6b215fa4e74e4fb2daf352d7c90f6d
Autor:
Mia J Konjikusic, Patra Yeetong, Curtis W Boswell, Chanjae Lee, Elle C Roberson, Rungnapa Ittiwut, Kanya Suphapeetiporn, Brian Ciruna, Christina A Gurnett, John B Wallingford, Vorasuk Shotelersuk, Ryan S Gray
Publikováno v:
PLoS Genetics, Vol 14, Iss 11, p e1007817 (2018)
Cerebrospinal fluid flow is crucial for neurodevelopment and homeostasis of the ventricular system of the brain, with localized flow being established by the polarized beating of the ependymal cell (EC) cilia. Here, we report a homozygous one base-pa
Externí odkaz:
https://doaj.org/article/18c7dedfa9844f2fa485a189e32020a4
Autor:
Chupong Ittiwut, Surakameth Mahasirimongkol, Smith Srisont, Rungnapa Ittiwut, Manoch Chockjamsai, Piya Durongkadech, Waritta Sawaengdee, Athiwat Khunphon, Kanidsorn Larpadisorn, Sukanya Wattanapokayakit, Suppachok Wetchaphanphesat, Surachet Arunotong, Suphot Srimahachota, Chakrarat Pittayawonganon, Panithee Thammawijaya, Derek Sutdan, Pawinee Doungngern, Apichai Khongphatthanayothin, Stephen J. Kerr, Vorasuk Shotelersuk
Publikováno v:
Heart Rhythm. 19:1874-1879
Severe acute respiratory syndrome coronavirus 2 vaccination reduces morbidity and mortality associated with coronavirus disease 2019 (COVID-19); unfortunately, it is associated with serious adverse events, including sudden unexplained death (SUD).We
Autor:
Voranush Chongsrisawat, Narissara Suratannon, Pantipa Chatchatee, Rungnapa Ittiwut, Chupong Ittiwut, Wanlapa Weerapakorn, Apiradee Theamboonlers, Meino Rohlfs, Christoph Klein, Daniel Kotlarz, Kanya Suphapeetiporn
Publikováno v:
Inflammatory Bowel Diseases, 28(9), 1458-1461. Oxford University Press
Autor:
Suttipong Wacharasindhu, Chupong Ittiwut, Rungnapa Ittiwut, Suphab Aroonparkmongkol, Kanya Suphapeetiporn
Publikováno v:
Journal of Pediatric Genetics.
Disorders of sex development (DSD) can be classified as 46,XX DSD, 46,XY DSD, and sex chromosome DSD. Several underlying causes including associated genes have been reported. Steroidogenic factor-1 is encoded by the NR5A1 gene, a crucial regulator of
Autor:
Pattara Wiromrat, Prasit Phowthongkum, Vorasuk Shotelersuk, Wanna Chetruengchai, Chureerat Phokaew, Duangrurdee Wattanasirichaigoon, Chupong Ittiwut, Kitiwan Rojnueangnit, Mongkol Chanvanichtrakool, Ponghatai Boonsimma, Aayalida Buasong, Kanya Suphapeetiporn, Rungnapa Ittiwut, Chutima Phuaksaman, Adjima Assawapitaksakul, Chalurmpon Srichomthong, Wuttichart Kamolvisit, Chulaluck Kuptanon
Publikováno v:
Clinical Genetics. 100:100-105
The use of rapid DNA sequencing technology in severely ill children in developed countries can accurately identify diagnoses and positively impact patient outcomes. This study sought to evaluate the outcome of Thai children and adults with unknown et
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability
Autor:
Ponghatai Boonsimma, Kanya Suphapeetiporn, Sathida Poonmaksatit, Tayard Desudchit, Vorasuk Shotelersuk, Chupong Ittiwut, Rungnapa Ittiwut
Publikováno v:
Brain and Development. 43:490-494
Background In approximately half of patients with epilepsy and intellectual disability (ID), the cause is unidentified and could be a mutation in a new disease gene. Patient description To determine the discovery of disease-causing mutation in a fema
Autor:
Narissara Suratannon, Chupong Ittiwut, Willem A. Dik, Rungnapa Ittiwut, Kornvalee Meesilpavikkai, Nipan Israsena, Praewphan Ingrungruanglert, Virgil A.S. H. Dalm, Paul L.A. van Daele, Anapat Sanpavat, Nataruks Chaijitraruch, Benjamin Schrijver, Supranee Buranapraditkun, Thantrira Porntaveetus, Sigrid M.A. Swagemakers, Hanna IJspeert, Tanapat Palaga, Kanya Suphapeetiporn, Peter J. van der Spek, Nattiya Hirankarn, Pantipa Chatchatee, P. Martin van Hagen, Vorasuk Shotelersuk
Publikováno v:
Journal of Allergy and Clinical Immunology, 151(2), 565-571.e9. Mosby Inc.
Background: The signal transducer and activator of transcription 6 (STAT6) signaling pathway plays a central role in allergic inflammation. To date, however, there have been no descriptions of STAT6 gain-of-function variants leading to allergies in h