Article
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
American journal of human genetics - 1 Nov 2005
Thiel Christian T, Horn Denise, Zabel Bernhard, Ekici Arif B, Salinas Kelly, Gebhart Erich, Rüschendorf Franz, Sticht Heinrich, Spranger Jürgen, Müller Dietmar, Zweier Christiane, Schmitt Mark E, Reis André, Rauch Anita
Abstract excerpt
The growth of an individual is deeply influenced by the regulation of cell growth and division, both of which also contribute to a wide variety of pathological conditions, including cancer, diabetes, and inflammation. To identify a major regulator of human growth, we performed positional cloning in an autosomal recessive type of profound short stature, anauxetic dysplasia. Homozygosity mapping led to the...
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