Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Piranit Nik, Kantaputra"'
Autor:
Piranit Nik Kantaputra, Kanich Tripuwabhrut, Robert P. Anthonappa, Kanoknart Chintakanon, Chumpol Ngamphiw, Ploy Adisornkanj, Nop Porntrakulseree, Bjorn Olsen, Worrachet Intachai, Raoul C. Hennekam, Alexandre R. Vieira, Sissades Tongsima
Publikováno v:
Diagnostics, Vol 13, Iss 7, p 1214 (2023)
Background: Supernumerary teeth refer to extra teeth that exceed the usual number of dentitions. A mesiodens is a particular form of supernumerary tooth, which is located in the premaxilla region. The objective of the study was to investigate the gen
Externí odkaz:
https://doaj.org/article/7286becf32d243d590b4794d750c4492
Autor:
Piranit Nik Kantaputra, Peeranat Jatooratthawichot, Ploy Adisornkanj, Panita Kitsadayurach, Massupa Kaewgahya, Bjorn Olsen, Atsushi Ohazama, Chumpol Ngamphiw, Sissades Tongsima, Timothy C. Cox, James R. Ketudat Cairns
Publikováno v:
Biology, Vol 12, Iss 2, p 220 (2023)
Background: Low density lipoprotein receptor-related protein 4 (LRP4; MIM 604270) modulates WNT/β-catenin signaling, through its binding of WNT ligands, and to co-receptors LRP5/6, and WNT inhibitors DKK1, SOSTDC1, and SOST. LRP4 binds to SOSTDC1 an
Externí odkaz:
https://doaj.org/article/a12550c94e7143ec94c16309622f5817
Autor:
Piranit Nik Kantaputra, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C. Cox, James R. Ketudat Cairns
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 322
Volume 14
Issue 2
Pages: 322
One of the most important steps in post-translational modifications of collagen type I chains is the hydroxylation of carbon-3 of proline residues by prolyl-3-hydroxylase-1 (P3H1). Genetic variants in P3H1 have been reported to cause autosomal recess
Autor:
Chalurmpon Srichomthong, Keswadee Lapphra, Surakameth Mahasirimongkol, Thantrira Porntaveetus, Sissades Tongsima, Vorasuk Shotelersuk, Wanna Chetruengchai, Wichittra Tassaneeyakul, Sujiraporn Pakchuen, Kanya Suphapeetiporn, Verayuth Praphanphoj, Pattarapong Makarawate, Rujipat Wasitthankasem, Adjima Assawapitaksakul, Athiphat Khuninthong, Duangdao Wichadakul, Nusara Satproedprai, Pongsakorn Wangkumhang, Prapaporn Pisitkun, Vorthunju Nakhonsri, Piranit Nik Kantaputra, Alisa Wilantho, Chureerat Phokaew, Philip J. Shaw, Jittima Piriyapongsa, Chumpol Ngamphiw
Publikováno v:
Clinical Genetics. 100:703-712
To maximize the potential of genomics in medicine, it is essential to establish databases of genomic variants for ethno-geographic groups that can be used for filtering and prioritizing candidate pathogenic variants. Populations with non-European anc
Autor:
Worrachet Intachai, Abigail S. Tucker, Sissades Tongsima, Chumpol Ngamphiw, Nutsuchar Wangtiraumnuay, Piranit Nik Kantaputra, Bjorn R. Olsen
Publikováno v:
Journal of Human Genetics. 67:115-118
FREM2 is a member of the FREM2–FRAS1–FREM1 protein complex which contributes to epithelial–mesenchymal coupling. We report a Thai woman with cryptophthalmos, dental anomalies, and oral vestibule defect. A compound heterozygous mutation (c.6499C
Autor:
Piranit Nik Kantaputra, Yeliz Guven, Kanich Tripuwabhrut, Ploy Adisornkanj, Athiwat Hatsadaloi, Massupa Kaewgahya, Bjorn Olsen, Chumpol Ngamphiw, Peeranat Jatooratthawichot, Sissades Tongsima, James R. Ketudat Cairns
Publikováno v:
Clinical geneticsREFERENCES. 102(4)
WNT/β-catenin and BMP signaling pathways play important roles in the process of tooth development. Dysregulation of WNT/β-catenin and BMP signaling is implicated in a number of human malformations, including dental anomalies. Whole exome and Sanger
Autor:
Leila Cabral de Almeida, Cardoso, Alejandro, Parra, Cristina Ríos, Gil, Pedro, Arias, Natalia, Gallego, Valeria, Romanelli, Piranit Nik, Kantaputra, Leonardo, Lima, Juan Clinton, Llerena Júnior, Claudia, Arberas, Encarna, Guillén-Navarro, Julián, Nevado, Spanish OverGrowth Registry Initiative, Jair, Tenorio-Castano, Pablo, Lapunzina
Publikováno v:
Cancers. 14(15)
Beckwith-Wiedemann syndrome spectrum (BWSp) is an overgrowth disorder caused by imprinting or genetic alterations at the 11p15.5 locus. Clinical features include overgrowth, macroglossia, neonatal hypoglycaemia, omphalocele, hemihyperplasia, cleft pa
Autor:
Pongsak Mahanupab, Bjorn R. Olsen, Metawee Srikummool, Wattana Chartapisak, Piranit Nik Kantaputra, Rak Tananuvat, James R. Ketudat Cairns, Jatupol Kampuansai, Worrachet Intachai, Napaporn Tananuvat, Chananya Hokierti
Publikováno v:
Journal of Human Genetics. 66:193-203
Harboyan syndrome or corneal dystrophy and progressive deafness (MIM #217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive, sensorineural hearing loss. Mutations in SLC4A11 are responsible for this rare genet
Autor:
Bruce M. Carlson, Nuntigar Sonsuwan, Chumpol Ngamphiw, Natalina Quarto, Worrachet Intachai, Kanich Tripuwabhrut, Piranit Nik Kantaputra, Sissades Tongsima
Publikováno v:
Clinical Otolaryngology. 45:695-702
Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses. Objective To investigate four Treacher Collins syndrome patients of the Sgaw Karen family
Autor:
Worrachet Intachai, Teerapat Wongmaneerung, Bruce M. Carlson, W. Powcharoen, Dhirawat Jotikasthira, Piranit Nik Kantaputra, Natalina Quarto, Theerapong Khankasikum, Kanich Tripuwabhrut
Publikováno v:
The Journal of Dermatology. 47:774-778
Trichorhinophalangeal syndrome type 1 (TRPS1; Online Mendelian Inheritance in Man #190350) is an autosomal dominant disorder caused by mutations in TRPS1. We report a Thai male with TRPS1 who carried a c.1842C>T (p.Arg615Ter) mutation. He had 15 supe