S
Siraprapa Tongkobpetch
Researcher at Chulalongkorn University
Publications - 45
Citations - 1060
Siraprapa Tongkobpetch is an academic researcher from Chulalongkorn University. The author has contributed to research in topics: Gene & Missense mutation. The author has an hindex of 13, co-authored 42 publications receiving 972 citations. Previous affiliations of Siraprapa Tongkobpetch include Thai Red Cross Society & King Chulalongkorn Memorial Hospital.
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Journal ArticleDOI
Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population.
Chaichon Locharernkul,Jakrin Loplumlert,Chusak Limotai,Wiwat Korkij,Tayard Desudchit,Siraprapa Tongkobpetch,Oratai Kangwanshiratada,Nattiya Hirankarn,Kanya Suphapeetiporn,Vorasuk Shotelersuk +9 more
TL;DR: This study seeks to identify whether HLA‐B*1502 is associated with CBZ‐ or phenytoin (PHT)‐induced SJS or MPE in a Thai population.
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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
Uschi Lindert,Wayne A. Cabral,Surasawadee Ausavarat,Surasawadee Ausavarat,Surasawadee Ausavarat,Siraprapa Tongkobpetch,Siraprapa Tongkobpetch,Katja Ludin,Aileen M. Barnes,Patra Yeetong,Patra Yeetong,MaryAnn Weis,Birgit Krabichler,Chalurmpon Srichomthong,Chalurmpon Srichomthong,Elena Makareeva,Andreas R. Janecke,Sergey Leikin,Benno Röthlisberger,Marianne Rohrbach,Ingo Kennerknecht,David R. Eyre,Kanya Suphapeetiporn,Kanya Suphapeetiporn,Cecilia Giunta,Joan C. Marini,Vorasuk Shotelersuk,Vorasuk Shotelersuk +27 more
TL;DR: An X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P) is identified, providing evidence that RIP plays a fundamental role in normal bone development.
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MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population
TL;DR: The data support that MSX1 mutations are found in 2% of cases of CL/P and should be considered for genetic counseling implications, but suggest that the P147Q variant is not pathogenic.
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TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.
TL;DR: The study indicates that TBX22 mutations are responsible for a significant proportion of Thai non‐syndromic CP cases confirming its importance as a frequent cause of non‐ Synderlandic CP across different populations.
Journal ArticleDOI
PDGFRa mutations in humans with isolated cleft palate
Sawitree Rattanasopha,Siraprapa Tongkobpetch,Siraprapa Tongkobpetch,Chalurmpon Srichomthong,Chalurmpon Srichomthong,Pichit Siriwan,Kanya Suphapeetiporn,Kanya Suphapeetiporn,Vorasuk Shotelersuk,Vorasuk Shotelersuk +9 more
TL;DR: This is the first study providing evidence supporting a role of PDGFRa in human CP, and Luciferase assay revealed that, in the presence of miR-140, the c.*34G>A significantly repressed luciferase activity compared with that of the wild type, suggesting functional significance of this variant.