Follicle stimulating hormone (FSH) is considered to be essential for spermatogenesis. Therefore, genetic abnormalities of FSH signalling on testicular Sertoli cells would be expected to affect sperm production negatively in males. Inactivating FSH receptor mutations have been reported earlier in both males and females. All affected males had elevated FSH serum concentrations and abnormal sperm ...

Malignant gliomas have a very poor prognosis. The current standard of care for these cancers consists of extended adjuvant treatment with the alkylating agent temozolomide after surgical resection and radiotherapy. Although a statistically significant increase in survival has been reported with this regimen, nearly all gliomas recur and become insensitive to further treatment with this class of...

The neural melanocortin receptors, melanocortin-3 and -4 receptors (MC3R and MC4R), have been shown to regulate different aspects of energy homeostasis in rodents. Human genetic studies showed that mutations in the MC4R gene are the most common monogenic form of obesity. Functional analyses of the mutant receptors revealed multiple defects. A classification scheme is presented for cataloguing t...

Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutati...

Yeast-based assays have been developed to detect inactivating mutations in human genes, but these assays generally rely on the human protein having a biological function in yeast. We describe a simple method to detect mutations by virtue of their ability to abolish a protein-protein interaction in the yeast two-hybrid assay. By the use of direct recombinational cloning in yeast of a reverse tra...

Progressive osseous heteroplasia (POH) is a rare autosomal dominant disorder of mesenchymal differentiation characterized by progressive heterotopic ossification (HO) of dermis, deep connective tissues and skeletal muscle. Usually, initial bone formation occurs during infancy as primary osteoma cutis (OC) then progressively extending into deep connective tissues and skeletal muscle over childho...