Extracellular matrix protein 1 (ECM1) is expressed in a wide variety of tissues and plays important roles in extracellular matrix formation. Additionally, ECM1 gene mutations cause lipoid proteinosis (LP), a rare skin condition of genetic origin. However, an effective therapeutic approach of LP is not established. Here, we showed that ECM1 gene mutation observed in LP patients significantly sup...

MOTIVATION RNA sequencing enables allele-specific expression (ASE) studies that complement standard genotype expression studies for common variants and, importantly, also allow measuring the regulatory impact of rare variants. The Genotype-Tissue Expression (GTEx) project is collecting RNA-seq data on multiple tissues of a same set of individuals and novel methods are required for the analysis ...

Lipoid proteinosis is a rare hereditary metabolic disorder transmitted as an autosomal recessive trait. It is characterized by the deposition of an amorphous hyaline-like material (glycoprotein) in the mucous membranes, skin and various internal organs. Cryosurgery (N(2)O) was applied to remove and reshape the lip lesions in a case of this rare syndrome. The patient was a 24-year-old female. Cr...

A 10-year-old girl born of consanguineous marriage presented with hoarseness of voice and difficulty in protruding tongue since last five years. No other family member was affected. Cardiovascular, ophthalmological and neurological examination was normal. Hematological profile was normal, including X-ray skull. Cutaneous examination showed classical multiple beaded papules along the eyelid marg...