Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome-Reference-Cited by-同舟云学术

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Published:2003-09-21 Issue:2 Volume:35 Page:185-189
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Varon Raymonda,Gooding Rebecca,Steglich Christina,Marns Lorna,Tang Hua,Angelicheva Dora,Yong Kiau Kiun,Ambrugger Petra,Reinhold Anke,Morar Bharti,Baas Frank,Kwa Marcel,Tournev Ivailo,Guerguelcheva Velina,Kremensky Ivo,Lochmüller Hanns,Müllner-Eidenböck Andrea,Merlini Luciano,Neumann Luitgard,Bürger Joachim,Walter Maggie,Swoboda Kathryn,Thomas P K,von Moers Arpad,Risch Neil,Kalaydjieva Luba

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1243.pdf

Reference30 articles.

1. Tournev, I. et al. Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann. Neurol. 45, 742–750 (1999).

2. Tournev, I., King, R., Muddle, J., Kalaydjieva, L. & Thomas, P.K. Peripheral nerve abnormalities in the congenital cataract facial dysmorphism neuropathy (CCFDN) syndrome. Acta Neuropathol. (Berlin) 98, 165–170 (1999).

3. Merlini, L. et al. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology 58, 231–236 (2002).

4. Angelicheva, D., Tournev, I., Dye, D., Chandler, D., Thomas, P.K. & Kalaydjieva, L. Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur. J. Hum. Genet. 7, 560–566 (1999).

5. Chambers, R.S. & Dahmus, M.E. Purification and characterization of a phosphatase from HeLa cells which dephosphorylates the C-terminal domain of RNA polymerase II. J. Biol. Chem. 269, 26243–26248 (1994).

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