TFAP2B mutation and dental anomalies

por Tanasubsinn, Natchaya, Sittiwangkul, Rekwan, Pongprot, Yupada, Kawasaki, Katsushige, Ohazama, Atsushi, Sastraruji, Thanapat, Kaewgahya, Massupa, Kantaputra, Piranit Nik
Publicado 2017

Core promoter in TNBC is highly mutated with rich ethnic signature

por Huang, Teng, Li, Jiaheng, Zhao, Heng, Ngamphiw, Chumpol, Tongsima, Sissades, Kantaputra, Piranit, Kittitharaphan, Wiranpat, Wang, San Ming
Publicado 2022

A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment

por Kantaputra, Piranit, Leelaadisorn, Niramol, Hatsadaloi, Athiwat, Quarto, Natalina, Intachai, Worrachet, Tongsima, Sissades, Kawasaki, Katsushige, Ohazama, Atsushi, Ngamphiw, Chumpol, Wiriyakijja, Paswach
Publicado 2023

Novel Dental Anomaly–associated Mutations in WNT10A Protein Binding Sites

por Kantaputra, Piranit, Jatooratthawichot, Peeranat, Tantachamroon, Oranuch, Nanekrungsan, Kamonporn, Intachai, Worrachet, Olsen, Bjorn, Tongsima, Sissades, Ngamphiw, Chumpol, Cairns, James R. Ketudat
Publicado 2022

A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII

por Kantaputra, Piranit Nik, Angkurawaranon, Salita, Intachai, Worrachet, Ngamphiw, Chumpol, Olsen, Bjorn, Tongsima, Sissades, Cox, Timothy C., Ketudat Cairns, James R.
Publicado 2023

Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome

por Kantaputra, Piranit N., Angkurawaranon, Salita, Khwanngern, Krit, Ngamphiw, Chumpol, Intachai, Worrachet, Adisornkanj, Ploy, Tongsima, Sissades, Olsen, Bjorn, Sonsuwan, Nuntigar, Katanyuwong, Kamornwan
Publicado 2022

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

por Kantaputra, Piranit, Dejkhamron, Prapai, Sittiwangkul, Rekwan, Katanyuwong, Kamornwan, Ngamphiw, Chumpol, Sonsuwan, Nuntigar, Intachai, Worrachet, Tongsima, Sissades, Beales, Philip L., Buranaphatthana, Worakanya
Publicado 2022

Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth

por Panyarat, Chomchanok, Nakornchai, Siriruk, Chintakanon, Kanoknart, Leelaadisorn, Niramol, Intachai, Worrachet, Olsen, Bjorn, Tongsima, Sissades, Adisornkanj, Ploy, Ngamphiw, Chumpol, Cox, Timothy C., Kantaputra, Piranit
Publicado 2023

Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency

por Kantaputra, Piranit, Daroontum, Teerada, Chuamanochan, Mati, Chaowattanapanit, Suteeraporn, Intachai, Worrachet, Olsen, Bjorn, Sastraruji, Thanapat, Tongsima, Sissades, Ngamphiw, Chumpol, Kampuansai, Jatupol, Cox, Timothy C., Kiratikanon, Salin
Publicado 2022

Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation

por Adisornkanj, Ploy, Chanprasit, Rajit, Eliason, Steven, Fons, Juan M., Intachai, Worrachet, Tongsima, Sissades, Olsen, Bjorn, Arold, Stefan T., Ngamphiw, Chumpol, Amendt, Brad A., Tucker, Abigail S., Kantaputra, Piranit
Publicado 2023

Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans

por Kantaputra, Piranit Nik, Jatooratthawichot, Peeranat, Adisornkanj, Ploy, Kitsadayurach, Panita, Kaewgahya, Massupa, Olsen, Bjorn, Ohazama, Atsushi, Ngamphiw, Chumpol, Tongsima, Sissades, Cox, Timothy C., Ketudat Cairns, James R.
Publicado 2023

SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis

por Kantaputra, Piranit, Daroontum, Teerada, Chuamanochan, Mati, Chaowattanapanit, Suteeraporn, Kiratikanon, Salin, Choonhakarn, Charoen, Intachai, Worrachet, Olsen, Bjorn, Tongsima, Sissades, Ngamphiw, Chumpol, Pontisso, Patrizia, Cox, Timothy C., Ounjai, Puey
Publicado 2023

Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas

por Kantaputra, Piranit Nik, Tripuwabhrut, Kanich, Anthonappa, Robert P., Chintakanon, Kanoknart, Ngamphiw, Chumpol, Adisornkanj, Ploy, Porntrakulseree, Nop, Olsen, Bjorn, Intachai, Worrachet, Hennekam, Raoul C., Vieira, Alexandre R., Tongsima, Sissades
Publicado 2023

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

por Cardoso, Leila Cabral de Almeida, Parra, Alejandro, Gil, Cristina Ríos, Arias, Pedro, Gallego, Natalia, Romanelli, Valeria, Kantaputra, Piranit Nik, Lima, Leonardo, Llerena Júnior, Juan Clinton, Arberas, Claudia, Guillén-Navarro, Encarna, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Publicado 2022

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus

por Gowans, Lord J.J., Cameron-Christie, Sophia, Slayton, Rebecca L., Busch, Tamara, Romero-Bustillos, Miguel, Eliason, Steven, Sweat, Mason, Sobreira, Nara, Yu, Wenjie, Kantaputra, Piranit N., Wohler, Elizabeth, Adeyemo, Wasiu Lanre, Lachke, Salil A., Anand, Deepti, Campbell, Collen, Drummond, Bernadette K., Markie, David M., van Vuuren, W. Jansen, van Vuuren, L. Jansen, Casamassimo, Paul S., Ettinger, Ronald, Owais, Arwa, van Staden, I., Amendt, Brad A., Adeyemo, Adebowale A., Murray, Jeffrey C., Robertson, Stephen P., Butali, Azeez
Publicado 2019