Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Familial medullary thyroid cancer (MTC) and its precursor, C cell hyperplasia (CCH), is associated with germline RET mutations causing multiple endocrine neoplasia type 2. However, some rare families with apparent MTC/CCH predisposition do not have a detectable RET mutation. To identify novel MTC/CCH predisposition genes we undertook exome resequencing studies in a family with apparent predisposition to MTC/CCH and no identifiable RET mutation.

Treating congenital adrenal hyperplasia.

Genettreating congenital adrenal hyperplasia.ic alterations associated with rare endocrine diseases disrupt the body's normal chemical communication system. Faulty genes can affect any part of the hormone pathway by altering the way the body recognises a hormone, or how a hormone acts on a target organ.

Rare diseases: what do you need to know?

This six-part series on rare diseases aims to increase awareness and offer advice on how nurses can help patients. Part 1 uses a case study to illustrate the complexity of caring for people with rare diseases and provides pointers on how the care of this patient group can be improved.

J chain in the nurse shark: implications for function in a lower vertebrate.

J chain is a small polypeptide covalently attached to polymeric IgA and IgM. In humans and mice, it plays a role in binding Ig to the polymeric Ig receptor for transport into secretions. The putative orthologue of mammalian J chain has been identified in the nurse shark by sequence analysis of cDNA and the polypeptide isolated from IgM.