A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction
J Nallathambi, L Moumné, E De Baere, D Beysen… - Human genetics, 2007 - Springer
The blepharophimosis syndrome (BPES) is an autosomal dominant developmental disorder
in which craniofacial/eyelid malformations are associated (type I) or not (type II) with …
in which craniofacial/eyelid malformations are associated (type I) or not (type II) with …
[HTML][HTML] Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
C Shoubridge, D Cloosterman… - Genomics, 2007 - Elsevier
The Aristaless-related homeobox gene (ARX) is one of the major genes causing X-linked
mental retardation. We have been interested in the pathogenic mechanism of expanded …
mental retardation. We have been interested in the pathogenic mechanism of expanded …
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions
T Bachetti, P Bocca, S Borghini, I Matera… - The international journal …, 2007 - Elsevier
Polyalanine expansions in the PHOX2B gene have been detected in the vast majority of
patients affected with congenital central hypoventilation syndrome, a neurocristopathy …
patients affected with congenital central hypoventilation syndrome, a neurocristopathy …
Interactions between homopolymeric amino acids (HPAAs)
Y Oma, Y Kino, K Toriumi, N Sasagawa… - Protein …, 2007 - Wiley Online Library
Many human proteins contain consecutive amino acid repeats, known as homopolymeric
amino acid (HPAA) tracts. Some inherited diseases are caused by proteins in which HPAAs …
amino acid (HPAA) tracts. Some inherited diseases are caused by proteins in which HPAAs …
[HTML][HTML] Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes
S Borghini, M Di Duca, G Santamaria… - European journal of …, 2007 - nature.com
TLX2 (also known as HOX11L1, Ncx and Enx) is a transcription factor playing a crucial role
in the development of the enteric nervous system, as confirmed by mice models exhibiting …
in the development of the enteric nervous system, as confirmed by mice models exhibiting …
Unequal crossover recombination – population screening for PHOX2B gene polyalanine polymorphism using CE
Congenital central hypoventilation syndrome (CCHS) is a rare neurological disorder
characterized by abnormal autonomic central nervous system control of breathing during …
characterized by abnormal autonomic central nervous system control of breathing during …
Investigation of molecular mechanisms underlying Oculopharyngeal Muscular Dystrophy (OPMD)
C Messaed - 2007 - escholarship.mcgill.ca
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset
disease that presents in the fifth or sixth decade. The disease is characterized by …
disease that presents in the fifth or sixth decade. The disease is characterized by …