MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

por Caengprasath, Natarin, Theerapanon, Thanakorn, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2021

Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature

por Sriwattanapong, Kanokwan, Theerapanon, Thanakorn, Boonprakong, Lawan, Srijunbarl, Anucharte, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2023

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

por Budsamongkol, Thunyaporn, Intarak, Narin, Theerapanon, Thanakorn, Yodsanga, Somchai, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2019

Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation

por Nowwarote, Nunthawan, Osathanon, Thanaphum, Kanjana, Kiattipan, Theerapanon, Thanakorn, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2019

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant

por Sriwattanapong, Kanokwan, Rojnueangnit, Kitiwan, Theerapanon, Thanakorn, Srichomthong, Chalurmpon, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2021

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations

por THAWEESAPPHITHAK, Sermporn, SAENGSIN, Jirawat, KAMOLVISIT, Wuttichart, THEERAPANON, Thanakorn, PORNTAVEETUS, Thantrira, SHOTELERSUK, Vorasuk
Publicado 2022

Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants

por Kanchanasevee, Charinya, Sriwattanapong, Kanokwan, Theerapanon, Thanakorn, Thaweesapphithak, Sermporn, Chetruengchai, Wanna, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2020

Functional consequences of C-terminal mutations in RUNX2

por Thaweesapphithak, Sermporn, Theerapanon, Thanakorn, Rattanapornsompong, Khanti, Intarak, Narin, Kanpittaya, Pimsiri, Trachoo, Vorapat, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2023

Dental characteristics of patients with four different types of skeletal dysplasias

por Tantibhaedhyangkul, Worasap, Tantrapornpong, Jenjira, Yutchawit, Nuttanun, Theerapanon, Thanakorn, Intarak, Narin, Thaweesapphithak, Sermporn, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Publicado 2023

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs

por Porntaveetus, Thantrira, Abid, Mushriq F, Theerapanon, Thanakorn, Srichomthong, Chalurmpon, Ohazama, Atsushi, Kawasaki, Katsushige, Kawasaki, Maiko, Suphapeetiporn, Kanya, Sharpe, Paul T., Shotelersuk, Vorasuk
Publicado 2018