Endogenous N-terminal Domain Cleavage Modulates α1D-Adrenergic Receptor Pharmacodynamics

Autor: Elizabeth C. Curran, Stacey Aggarwal-Howarth, Dorathy-Ann Harris, Kyung Soon Lee, Joseph Hendrickson, John D. Scott, Timothy S. Kountz, Alejandro Wolf-Yadlin, Ji Min Park, Edith H. Wang, Aaron Stewart, Chris Hague, Nathan D. Camp

Publikováno v: Journal of Biological Chemistry. 291:18210-18221

The α1D-adrenergic receptor (ADRA1D) is a key regulator of cardiovascular, prostate, and central nervous system functions. This clinically relevant G protein-coupled receptor has proven difficult to study, as it must form an obligate modular homodim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc59c1fc44bd9e365b27c44565451ff
https://doi.org/10.1074/jbc.m116.729517

A novel variant in

Autor: Sarah E, Hurst, Erika, Liktor-Busa, Aubin, Moutal, Sara, Parker, Sydney, Rice, Szabolcs, Szelinger, Grant, Senner, Michael F, Hammer, Laurel, Johnstone, Keri, Ramsey, Vinodh, Narayanan, Samantha, Perez-Miller, May, Khanna, Heather, Dahlin, Karen, Lewis, David, Craig, Edith H, Wang, Rajesh, Khanna, Mark A, Nelson

Publikováno v: Neuronal Signaling

We investigated the genome of a 5-year-old male who presented with global developmental delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia of unknown origin. Whole genome sequencing (WGS) and mRNA sequencing (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1b1810f662d9266fdabcd9ef46980a1b
https://pubmed.ncbi.nlm.nih.gov/32714589

TAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestations

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

Publikováno v: Papai, G., Weil, P.A., Schultz, P., New insights into the function of transcription factor TFIID from recent structural studies (2011) Curr. Opin. Genet. Dev., 21, pp. 219-224
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
American Journal of Human Genetics, 97, 6, pp. 922-32
American Journal of Human Genetics, 97, 922-32
American Journal of Human Genetics, 97(6), 922-932
The American Journal of Human Genetics

Contains fulltext : 152777.pdf (Publisher’s version ) (Open Access) We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eec5bbcfad067e81776632996e4aa61b
http://repository.urosario.edu.co/handle/10336/19015

Selective up-regulation of PDE1B2 upon monocyte-to-macrophage differentiation

Autor: Cari L. Ostenson, Joseph A. Beavo, Andrew T. Bender, Edith H. Wang

Publikováno v: Proceedings of the National Academy of Sciences. 102:497-502

Granulocyte–macrophage colony-stimulating factor (GM-CSF) is a major regulator of monocyte to macrophage differentiation. In both humans and mice, the main phenotype of decreased GM-CSF function is pulmonary proteinosis due to aberrant function of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d244aea20346284b9e3adcd24f0b140d
https://doi.org/10.1073/pnas.0408535102

Transcription Factor IID Recruitment and Sp1 Activation

Autor: Traci L. Hilton, Edith H. Wang

Publikováno v: Journal of Biological Chemistry. 278:12992-13002

Cyclin D1 is an oncogene that regulates progression through the G(1) phase of the cell cycle. A temperature-sensitive missense mutation in the transcription factor TAF1/TAF(II)250 induces the mutant ts13 cells to arrest in late G(1) by decreasing tra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b809a31b7c0278455d8e051829fea5da
https://doi.org/10.1074/jbc.m300412200