Abstract

Autosomal recessive, unknown cause, resembling (X-linked) dyskeratosis congenita. Marked variability in clinical presentation and course. Cells hypersensitive to dysfunctional clastogenic alkylating agents and to oxygen-induced free radicals. This test is used for prenatal diagnosis of FA. Studies: correlating clinical and cytogenic data from complementation analysis of euploid somatic cell hybrids; causes and potential correction of retarded growth and marrow failure; mapping the FA gene(s).

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000102-28
Application #
3864022
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
28
Fiscal Year
1991
Total Cost
Indirect Cost

  Institution

Name
Rockefeller University
Department
Type
DUNS #
071037113
City
New York
State
NY
Country
United States
Zip Code
10065

  Publications

Bagdade, John D; Jilma, Bernd; Hudgins, Lisa C et al. (2018) LpA-II:B:C:D:E: a new immunochemically-defined acute phase lipoprotein in humans. Lipids Health Dis 17:127
Butelman, Eduardo Roque; Bacciardi, Silvia; Maremmani, Angelo Giovanni Icro et al. (2017) Can a rapid measure of self-exposure to drugs of abuse provide dimensional information on depression comorbidity? Am J Addict 26:632-639
Ansar, Muhammad; Raza, Syed Irfan; Lee, Kwanghyuk et al. (2015) A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet 52:676-80
Rosenbaum, Michael; Leibel, Rudolph L (2014) 20 years of leptin: role of leptin in energy homeostasis in humans. J Endocrinol 223:T83-96
Ohmatsu, Hanako; Humme, Daniel; Gulati, Nicholas et al. (2014) IL32 is progressively expressed in mycosis fungoides independent of helper T-cell 2 and helper T-cell 9 polarization. Cancer Immunol Res 2:890-900
Alemán, José O; Eusebi, Leonardo H; Ricciardiello, Luigi et al. (2014) Mechanisms of obesity-induced gastrointestinal neoplasia. Gastroenterology 146:357-373
Barbuto, Scott; Idoyaga, Juliana; Vila-Perelló, Miquel et al. (2013) Induction of innate and adaptive immunity by delivery of poly dA:dT to dendritic cells. Nat Chem Biol 9:250-6
Guo, Xiuyang; Dhodapkar, Kavita M (2012) Central and overlapping role of Cathepsin B and inflammasome adaptor ASC in antigen presenting function of human dendritic cells. Hum Immunol 73:871-8
Dustin, Lynn B; Charles, Edgar D (2012) Primary, post-primary and non-specific immunoglobulin M responses in HCV infection. Antivir Ther 17:1449-52
Pendyala, Swaroop; Walker, Jeanne M; Holt, Peter R (2012) A high-fat diet is associated with endotoxemia that originates from the gut. Gastroenterology 142:1100-1101.e2

Showing the most recent 10 out of 461 publications