Ornit Chiba-Falek, PhD
Recent Publications
1) Chiba-Falek O, Lopez GJ and Nussbaum RL. (2007) Reply: Expression of a-synuclein mRNA in Parkinson's disease. Movement Disorders 22:1057.
2) Chiba-Falek O, Lopez GJ and Nussbaum RL. (2006) Levels of Alpha-synuclein (SNCA) mRNA in sporadic Parkinson disease patients. Movement Disorders 21:1703-1708.
3) Chiba-Falek O, Kowalak JA, Smulson ME and Nussbaum RL. (2005) Regulation of a-synuclein expression by Poly (ADP ribose)polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. AJHG 76:478-492
4) Nissim-Rafinia M, Aviram M, Randell SH, Shushi L, Ozeri E, Chiba-Falek O, Eidelman O, Pollard HB, Yankaskas JR, Kerem B. (2004) Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. EMBO Rep. 5:1071-1077.
5) Chiba-Falek O and Nussbaum RL. (2003) Regulation of alpha-synuclein expression: implications for Parkinson's disease. Cold Spring Harb Symp Quant Biol 68:409-415.
6) Chiba-Falek O, Touchman JW and Nussbaum RL. (2003) Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. Hum Genet 113:426-431.
7) Chiba-Falek O and Nussbaum RL. (2001) Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum Mol Genet 10:3101-3109.
8) Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, Nussbaum RL. (2001) Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res 11:78-86.
9) Nissim-Rafinia M*,Chiba-Falek O*, Sharon G, Boss A, and Kerem B. (2000) Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations. Hum Mol Genet 9:1771-1778.
* Equal contribution.
10) Chiba-Falek O, Parad RB, Kerem E and Kerem B. (1999) Variable levels of normal RNA in different fetal organs carrying a CFTR splicing mutation. Am J Respir Crit Care Med 159:1998-2002.
11) Chiba-Falek O, Kerem E, Shoshani T, Aviram M, Augarten A, Bentur L, Tal A, Tullis E, Rahat A and Kerem B. (1998) The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10kb C->T mutation. Genomics 53:276-283.
12) Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E and Kerem B. (1998) Screening of CFTR mutations in an isolated population: identification of carriers and patients. Eur J Hum Genet 6:181-184.
13) Kerem E, Nissim-Rafinia M, Argaman Z, Augarten A, Bentur L, Klar A, Yahav Y, Szeinberg A, Chiba-Falek O, Branski D, Corey M and Kerem B. (1997) A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype. Pediatrics 100:1-6.
14) Kerem E, Rave-Harel N, Augarten A, Madgar I, Nissim-Rafinia M, Yahav Y, Goshen R, Bentur L, Rivlin J, Aviram M, Genem A, Chiba-Falek O, Kraemer MR, Simon A, Branski D and Kerem B. (1997) A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations. Am J Respir Crit Care Med 155:1914-1920.
15) Kerem B, Chiba-Falek O and Kerem E. (1997) Cystic fibrosis in Jews: frequency and mutation distribution. Genetic Testing 1:35-39.
16) Rave-Harel N, Madgar I, Goshen R, Nissim-Rafinia M, Ziadni A, Rahat A, Chiba O, Kalman YM, Brautbar C, Levinson D, Augarten A, Kerem E and Kerem B. (1995) CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hum Genet 56:1359-1366.
Contact Information
Ornit Chiba-Falek
Phone: 919-681-8001
o.chibafalek@duke.edu
Physical Address:
450 Research Drive
– B wing
Room 321C
Box 91009
Durham, NC 27708