Article
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
Nature genetics - 1 May 2002
Collin Gayle B, Marshall Jan D, Ikeda Akihiro, So W Venus, Russell-Eggitt Isabelle, Maffei Pietro, Beck Sebastian, Boerkoel Cornelius F, Sicolo Nicola, Martin Mitchell, Nishina Patsy M, Naggert Jürgen K
Abstract excerpt
Alström syndrome is a homogeneous autosomal recessive disorder that is characterized by childhood obesity associated with hyperinsulinemia, chronic hyperglycemia and neurosensory deficits. The gene involved in Alström syndrome probably interacts with genetic modifiers, as subsets of affected individuals present with additional features such as dilated cardiomyopathy, hepatic dysfunction, hypothyroidism, male...
Topics
- Amino Acid Sequence
- Base Sequence
- Cell Cycle Proteins
- Child
- DNA
- DNA Mutational Analysis
- DNA-Binding Proteins
- Diabetes Mellitus, Type 2
- Female
- Gene Expression