Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Chupong 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:
Suphalak Chokvithaya, Natarin Caengprasath, Aayalida Buasong, Supavadee Jantasuwan, Kanokwan Santawong, Netchanok Leela-adisorn, Siraprapa Tongkobpetch, Chupong Ittiwut, Vitchayaporn Emarach Saengow, Wuttichart Kamolvisit, Ponghatai Boonsimma, Saknan Bongsebandhu-phubhakdi, Vorasuk Shotelersuk
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Mutations in KCNQ2 encoding for voltage-gated K channel subunits underlying the neuronal M-current have been associated with infantile-onset epileptic disorders. The clinical spectrum ranges from self-limited neonatal seizures to epileptic e
Externí odkaz:
https://doaj.org/article/34faeeb0f7da4b4c958907783b71d468
Autor:
Sarinya Summa, Chupong Ittiwut, Pimchanok Kulsirichawaroj, Tanitnun Paprad, Surachai Likasitwattanakul, Oranee Sanmaneechai, Ponghatai Boonsimma, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-7 (2023)
Abstract Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determin
Externí odkaz:
https://doaj.org/article/257deb5fa9a54799986dee357b92530d
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:
Chankiat Songsantiphap, Jirat Suwanwatana, Chupong Ittiwut, Pravit Asawanonda, Pawinee Rerknimitr, Vorasuk Shotelersuk
Publikováno v:
Case Reports in Dermatology, Vol 12, Iss 3, Pp 241-248 (2020)
Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, non-syndromic (isolated), autosomal recessive palmoplantar keratoderma (PPK) with transgredients. It is characterized by non-progressive mild to moderate transgredient PPK. The mutation in SE
Externí odkaz:
https://doaj.org/article/e3db016bd72241b38e3a26e6fefcc631
Autor:
Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (
Externí odkaz:
https://doaj.org/article/d09f495c044042a488ccc379869eb599
Autor:
Kanhatai Chiengthong, Chupong Ittiwut, Sasipa Muensri, Jiratchaya Sophonphan, Darintr Sosothikul, Panya Seksan, Koramit Suppipat, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Publikováno v:
Haematologica, Vol 101, Iss 1 (2016)
Externí odkaz:
https://doaj.org/article/7df13f30e744422fb477c860d89e6380
Autor:
Chatchawit Aporntewan, Chureerat Phokaew, Jittima Piriyapongsa, Chumpol Ngamphiw, Chupong Ittiwut, Sissades Tongsima, Apiwat Mutirangura
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e17934 (2011)
In human cancers, the methylation of long interspersed nuclear element -1 (LINE-1 or L1) retrotransposons is reduced. This occurs within the context of genome wide hypomethylation, and although it is common, its role is poorly understood. L1s are wid
Externí odkaz:
https://doaj.org/article/4925909c620c4644af16284d353d00d6
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