Intrinsically disordered proteins and proteins with intrinsically disordered regions have been
shown to be highly prevalent in disease. Furthermore, disease-causing expansions of the …

Huntington's disease is one of the several neurodegenerative diseases caused by dominant
mutations that expand the number of glutamine codons within an existing poly‐glutamine …

Waardenburg syndrome (WS) is a rare disorder characterized by pigmentation defects and
sensorineural deafness, classified into four clinical subtypes, WS1–S4. Whereas the …

Polyglutamine (polyGln) expansions in nine human proteins result in neurological diseases
and induce the proteins' tendency to form β-rich amyloid fibrils and intracellular deposits …

Introduction Development of resistance to tamoxifen is an important clinical issue in the
treatment of breast cancer. Tamoxifen resistance may be the result of acquisition of …

Polyalanine (polyAla) tract expansions have been associated with an increasing number of
human diseases. Here, we have undertaken a functional study of the effects of polyAla …

Context: SOX3 is an early developmental transcription factor involved in pituitary
development. In humans, over-and underdosage of SOX3 is associated with X-linked …

Abstract Backgound and Aims: Correct gene dosage of SOX3 is critical for the development
of the hypothalamo-pituitary axis. Both overdosage of SOX3, as a result of gene duplication …

Polyalanine (poly (A)) diseases are caused by the expansion of translated GCN triplet
nucleotide sequences encoding poly (A) tracts in proteins. To date, nine human disorders …

Congenital hydrocephalus (CH) is a life-threatening medical condition in which excessive
accumulation of CSF leads to ventricular expansion and increased intracranial pressure …