The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression in facial coarsening o...

Kathryn Calame C. Thomas Caskey Dennis W. Choi John M. Coffin Paul J. Crutzen Robert Desimone Nicole Le Douarin Bruce F. Eldridge Paul T. Englund Richard G. Fairbanks Douglas T. Fearon Harry A. Fozzard Klaus Friedrich Theodore H. Geballe Margaret J. Geller John C. Gerhart Roger 1. M. Glass Stephen P. Goff Peter N. Goodfellow Corey S. Goodman Stephen J. Gould Ira Herskowitz Eric F. Johnson Steph...

Kathryn Calame C. Thomas Caskey Dennis W. Choi John M. Coffin Paul J. Crutzen Robert Desimone Nicole Le Douarin Bruce F. Eldridge Paul T. Englund Richard G. Fairbanks Douglas T. Fearon Harry A. Fozzard K. Friedrich Theodore H. Geballe Margaret J. Geller John C. Gerhart Roger 1. M. Glass Stephen P. Goff Peter N. Goodfellow Corey S. Goodman Stephen J. Gould ira Herskowitz Eric F. Johnson Stephen ...

Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutations in the gene RSK2. Originally, epilepsy was reported as a feature. We and others have since described predominantly sound-startle induced drop attacks that have been labelled 'cataplexy', abnormal startle response and hyperekplexia. We sought to clarify why there shou...

Jennifer J. Facher, Elizabeth J. Regier, Gretta H. Jacobs, Ernest Siwik, Jean-Pierre Delaunoy, and Nathaniel H. Robin* Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio Department of Pathology, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland Oh...

Coffin-Lowry syndrome (CLS, MIM # 303600) is a rare X-linked semi-dominant mental retardation disorder (XLMR). It was first reported independently by Coffin et al. [1] and Lowry et al. [2] and recognized as a novel syndrome of neurocognitive impairment, growth retardation, facial dysmorphism, puffy proximal digits, tapering digits and progressive skeletal changes by Temtamy et al. [3] in 1975. ...

Traditional colorimetric protein assays such as Biuret, Lowry, and modified Lowry (U-1988) are unsuitable for colored biological samples. Here we describe an improved Lowry protein assay (U-2012), which utilizes stable reagents and offers enhanced sensitivity over the U-1988 assay. U-2012 circumvents interference from colored pigments and other substances (for example sugars) bound to perchlori...