PMC Links for OMIM (Select 313650) - PMC

Select item 64469051.

Structure of human TFIID and mechanism of TBP loading onto promoter DNA

Avinash B. Patel, Robert K. Louder, Basil J. Greber, Sebastian Grünberg, Jie Luo, Jie Fang, Yutong Liu, Jeff Ranish, Steve Hahn, Eva Nogales

Science. Author manuscript; available in PMC 2019 Jun 21.

Published in final edited form as: Science. 2018 Dec 21; 362(6421): eaau8872. Published online 2018 Nov 15. doi: 10.1126/science.aau8872

PMCID:: PMC6446905

Abstract Article PDF–1.7M

Select item 46787942.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason A. O’Rawe, Yiyang Wu, Max J. Dörfel, Alan F. Rope, P.Y. Billie Au, Jillian S. Parboosingh, Sungjin Moon, Maria Kousi, Konstantina Kosma, Christopher S. Smith, Maria Tzetis, Jane L. Schuette, Robert B. Hufnagel, Carlos E. Prada, Francisco Martinez, Carmen Orellana, Jonathan Crain, Alfonso Caro-Llopis, Silvestre Oltra, Sandra Monfort, Laura T. Jiménez-Barrón, Jeffrey Swensen, Sara Ellingwood, Rosemarie Smith, Han Fang, Sandra Ospina, Sander Stegmann, Nicolette Den Hollander, David Mittelman, Gareth Highnam, Reid Robison, Edward Yang, Laurence Faivre, Agathe Roubertie, Jean-Baptiste Rivière, Kristin G. Monaghan, Kai Wang, Erica E. Davis, Nicholas Katsanis, Vera M. Kalscheuer, Edith H. Wang, Kay Metcalfe, Tjitske Kleefstra, A. Micheil Innes, Sophia Kitsiou-Tzeli, Monica Rosello, Catherine E. Keegan, Gholson J. Lyon

Am J Hum Genet. 2015 Dec 3; 97(6): 922–932. Published online 2015 Dec 3. doi: 10.1016/j.ajhg.2015.11.005

PMCID:: PMC4678794

Abstract Article PDF–1007K

Select item 29001993.

TFIIA and the transactivator Rap1 cooperate to commit TFIID for transcription initiation

Gabor Papai, Manish K. Tripathi, Christine Ruhlmann, Justin H. Layer, P. Anthony Weil, Patrick Schultz

Nature. Author manuscript; available in PMC 2010 Dec 1.

Published in final edited form as: Nature. 2010 Jun 17; 465(7300): 956–960. doi: 10.1038/nature09080

PMCID:: PMC2900199

Abstract Article PDF–826K

Select item 18211144.

Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism

Satoshi Makino, Ryuji Kaji, Satoshi Ando, Maiko Tomizawa, Katsuhito Yasuno, Satoshi Goto, Shinnichi Matsumoto, Ma. Daisy Tabuena, Elma Maranon, Marita Dantes, Lillian V. Lee, Kazumasa Ogasawara, Ikuo Tooyama, Hiroyasu Akatsu, Masataka Nishimura, Gen Tamiya

Am J Hum Genet. 2007 Mar; 80(3): 393–406. Published online 2007 Jan 23. doi: 10.1086/512129