Abstract

This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.The TWIST2 gene has been shown to be important in the development of skin, muscle and bone in several studies. A genome scan of two large Puerto Rican families and one family from Oman was used to map a very rare recessive disorder, the Setleis Syndrome, to microsatellite marker D2S1397 (2q37.3). Subsequently, nonsense mutations (Q119X and Q65X) were found in the TWIST2 gene in both types of patients. Further studies of the role of TWIST2 in human development may provide new insights into the targets of this transcription factor and their role in craniofacial development.The long term goal of this project: To study the mechanisms of Twist2 gene regulation in genes shown to be targets of its action in order to shed light on the craniofacial developmental program and the pathogenesis of the Setleis Syndrome.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
Exploratory Grants (P20)
Project #
5P20RR011126-14
Application #
7720573
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2008-07-01
Project End
2009-06-30
Budget Start
2008-07-01
Budget End
2009-06-30
Support Year
14
Fiscal Year
2008
Total Cost
$11,213
Indirect Cost

  Institution

Name
University of Puerto Rico Med Sciences
Department
Type
Schools of Medicine
DUNS #
948108063
City
San Juan
State
PR
Country
United States
Zip Code
00936

  Publications

Cantres-Rosario, Yisel M; Acevedo-Mariani, Frances M; Pérez-Laspiur, Juliana et al. (2017) Microwave & magnetic proteomics of macrophages from patients with HIV-associated cognitive impairment. PLoS One 12:e0181779
Colon, Krystal; Perez-Laspiur, Juliana; Quiles, Raymond et al. (2016) Macrophage secretome from women with HIV-associated neurocognitive disorders. Proteomics Clin Appl 10:136-43
Vázquez-Santiago, Fabián J; Rivera-Amill, Vanessa (2015) Envelope gene evolution and HIV-1 neuropathogenesis. J Neuroinfect Dis 6:
Vázquez-Santiago, Fabián; García, Yashira; Rivera-Román, Ivelisse et al. (2015) Longitudinal Analysis of Cerebrospinal Fluid and Plasma HIV-1 Envelope Sequences Isolated From a Single Donor with HIV Asymptomatic Neurocognitive Impairment. J Virol Antivir Res 4:
Ríos, Grissel; Estrada, Marcos; Mayor, Angel M et al. (2014) Factors associated with tender point count in Puerto Ricans with fibromyalgia syndrome. P R Health Sci J 33:112-6
Gandhi, Rajesh T; Bosch, Ronald J; Aga, Evgenia et al. (2013) Residual plasma viraemia and infectious HIV-1 recovery from resting memory CD4 cells in patients on antiretroviral therapy: results from ACTG A5173. Antivir Ther 18:607-13
González, Lorena; Magno, Priscilla; Ortiz, Ana P et al. (2013) Esophageal cancer incidence rates by histological type and overall: Puerto Rico versus the United States Surveillance, Epidemiology, and End Results population, 1992-2005. Cancer Epidemiol 37:5-10
Murthy, Vijaya; Willis, Rohan; Romay-Penabad, Zurina et al. (2013) Value of isolated IgA anti-?2 -glycoprotein I positivity in the diagnosis of the antiphospholipid syndrome. Arthritis Rheum 65:3186-93
Suárez, Erick; González, Lorena; Díaz-Toro, Elba C et al. (2013) Incidence of oral cavity and pharyngeal cancers by anatomical sites in population-based registries in Puerto Rico and the United States of America. P R Health Sci J 32:175-81
Ortiz, Ana Patricia; Romaguera, Josefina; Pérez, Cynthia M et al. (2013) Human papillomavirus infection in women in Puerto Rico: agreement between physician-collected and self-collected anogenital specimens. J Low Genit Tract Dis 17:210-7

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