Purpose: Previous studies found a strong association between HLA‐B* 1502 and
carbamazepine (CBZ)‐induced Stevens‐Johnson syndrome (SJS) in Han Chinese, but not …

Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with a strong
genetic involvement and ethnic differences. Susceptibility genes identified so far only …

Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked
recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease …

Studies of human chromosomal aberrations and knockout (KO) mice have suggested
SATB2 as a candidate gene for a human malformation syndrome of craniofacial patterning …

Epilepsy is a common neurological disorder and identification of its causes is important for a
better understanding of its pathogenesis. We previously studied a Thai family with a type of …

NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during
maintenance therapy in children with acute lymphoblastic leukemia - PMC Back to Top Skip to …

Context: Pituitary blastoma causing Cushing's syndrome in infancy is very rare, and its
molecular pathomechanism is not well understood. Objective: Our objective was to identify …

Background The signal transducer and activator of transcription 6 (STAT6) signaling
pathway plays a central role in allergic inflammation. To date, however, there have been no …

Abstract Benign Adult Familial Myoclonic Epilepsy (BAFME) is an autosomal dominant
disorder characterized by adult-onset cortical tremor or action myoclonus predominantly in …

Platelet demand has increased around the world. However, the inadequacy of donors, the
risk of transfusion-transmitted infections and associated reactions, and the refractory nature …