WebPHIP-related disorder, also known as Chung-Jansen syndrome, is a rare condition caused by a change in the pleckstrin homology domain-interacting protein (PHIP) gene. The most common signs and symptoms, include mild to severe learning problems, behavior … WebApr 4, 2024 · Chung-I Wu (中文: 吴仲义; 吳仲義, born 1954) is a Taiwanese biologist, ... the Down Syndrome Foundation Award from 1989 to 1991, AAAS fellow in 2004, and the Outstanding Alumnus Award from Tunghai University in 2004. In 2004, he was also elected as an academician of Academia Sinica.
Dubin-Johnson Syndrome: Practice Essentials, Background ...
WebChung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2024). WebDec 15, 2016 · Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder that is caused by a mutation in the ABCC2 gene, which comprises 32 exons, and is mainly expressed in the liver. The gene encodes a 190-kD glycoprotein called human canalicular multispecific organic anion transporter (cMOAT) protein, also known as multidrug … in and out autocentre cribbs causeway
Granulysin is a key mediator for disseminated keratinocyte
WebNov 23, 2008 · Chung et al. show that an unusual form of granulysin secreted from these cells is largely responsible for the cell death ( pages 1311–1313 ). Stevens-Johnson syndrome (SJS) and toxic epidermal ... WebStevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end. SJS/TEN often begins with a … WebStevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening adverse drug reactions characterized by massive epidermal necrosis, in … in and out autocentre leeds