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Often, a given patient has 2 different types of mutations, 1 of which allows a greater production of functional perlecan protein than the other.
However, the findings by Stum et al should be important tools to help find correlations among genetic variants, perlecan forms and levels, and clinical subtypes.
The investigators developed perlecan knock-in mice to model SJS.
An additional point of interest related to perlecan is that another disease, called dyssegmental dysplasia of the Silverman-Handmaker type (DDSH), is also caused by a recessive mutation of the perlecan gene.
Therefore, whereas in SJS types IA and IB some level of functional (and often even normal) perlecan protein is always produced, in DDSH, none is produced.
Schwartz-Jampel Syndrome (SJS) a rare entity: case report
Perlecan, basal lamina proteoglycan, promotes basic fibroblast growth factor-receptor binding, mitogenesis, and angiogenesis.
Lycium barbarum glycoconjugates: effect on human skin and cultured dermal fibroblasts
India's leading Private Equity Investors ICICI Venture and Citigroup Venture Capital International Mauritius Limited lead investment in Perlecan Pharma equity
Reddy's to transfer all rights and title, including the development and commercialization rights of 4 NCE assets to Perlecan Pharma in the area of Metabolic Disorders and Cardiovascular
Perlecan Pharma's early priorities will be to advance the clinical development of NCE assets received from Dr.
The formation of Perlecan acts as a precursor to many more exciting partnerships in the area of drug discovery and development for the Indian pharmaceutical industry.
Dr. Reddy's Announces the Formation of Perlecan Pharma; Perlecan Pharma Raises USD 52.5 Million as Initial Equity Capital; Perlecan Pharma: India's First Integrated Drug Development Company
Company scientists have determined that regulating the expression of perlecan can provide direct protection against this disease.
Dr. Reddy's Initiates Clinical Trials of Its Cardiovascular Drug in Ireland; RUS 3108 is a first-in-class compound
Company scientists through drug discovery research have determined that regulating the expression of a specific protein called perlecan can provide direct protection against this disease.
Dr. Reddy's Laboratories to present at American Heart Association Scientific Sessions

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