| Year |
Citation |
Score |
| 2022 |
Anderson SL, Fasih-Ahmad F, Evans AJ, Rubin BY. Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial Dysautonomia (FD) patient-derived cells and healthy adults: a possible therapy for FD. Human Molecular Genetics. PMID 35708500 DOI: 10.1093/hmg/ddac133 |
0.638 |
|
| 2017 |
Rubin BY, Anderson SL. IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies. The Application of Clinical Genetics. 10: 95-103. PMID 29290691 DOI: 10.2147/TACG.S129638 |
0.336 |
|
| 2015 |
Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D, Treff NR, Ekstein J, Rubin BY. A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population. Clinical Genetics. 88: 74-9. PMID 24989235 DOI: 10.1111/Cge.12448 |
0.402 |
|
| 2013 |
Liu B, Anderson SL, Qiu J, Rubin BY. Cardiac glycosides correct aberrant splicing of IKBKAP -encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3 Febs Journal. 280: 3632-3646. PMID 23711097 DOI: 10.1111/Febs.12355 |
0.673 |
|
| 2012 |
Anderson SL, Liu B, Qiu J, Sturm AJ, Schwartz JA, Peters AJ, Sullivan KA, Rubin BY. Nutraceutical-mediated restoration of wild-type levels of IKBKAP-encoded IKAP protein in familial dysautonomia-derived cells. Molecular Nutrition & Food Research. 56: 570-9. PMID 22495984 DOI: 10.1002/Mnfr.201100670 |
0.682 |
|
| 2011 |
Jalas C, Anderson SL, Laufer T, Martimucci K, Bulanov A, Xie X, Ekstein J, Rubin BY. A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. Blood Cells, Molecules & Diseases. 47: 79-83. PMID 21489838 DOI: 10.1016/j.bcmd.2011.03.006 |
0.391 |
|
| 2008 |
Rubin BY, Anderson SL, Kapás L. Can the therapeutic efficacy of tocotrienols in neurodegenerative familial dysautonomia patients be measured clinically? Antioxidants & Redox Signaling. 10: 837-41. PMID 18177231 DOI: 10.1089/ars.2007.1874 |
0.346 |
|
| 2008 |
Rubin BY, Anderson SL. The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies. Neuromolecular Medicine. 10: 148-56. PMID 17985250 DOI: 10.1007/s12017-007-8019-5 |
0.447 |
|
| 2005 |
Anderson SL, Rubin BY. Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia. Biochemical and Biophysical Research Communications. 336: 150-6. PMID 16125677 DOI: 10.1016/j.bbrc.2005.08.054 |
0.54 |
|
| 2004 |
Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D, Webb M, Risch N. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. American Journal of Medical Genetics. Part A. 129: 162-4. PMID 15316959 DOI: 10.1002/Ajmg.A.30232 |
0.345 |
|
| 2004 |
Anderson SL, Ekstein J, Donnelly MC, Keefe EM, Toto NR, LeVoci LA, Rubin BY. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Human Genetics. 115: 185-90. PMID 15221447 DOI: 10.1007/s00439-004-1140-8 |
0.375 |
|
| 2003 |
Anderson SL, Qiu J, Rubin BY. EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. Biochemical and Biophysical Research Communications. 310: 627-33. PMID 14521957 DOI: 10.1016/J.Bbrc.2003.09.019 |
0.676 |
|
| 2003 |
Anderson SL, Qiu J, Rubin BY. Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia. Biochemical and Biophysical Research Communications. 306: 303-9. PMID 12788105 DOI: 10.1016/S0006-291X(03)00971-9 |
0.67 |
|
| 2002 |
Coli R, Anderson SL, Volpi SA, Rubin BY. Genomic organization and chromosomal localization of the mouse IKBKAP gene. Gene. 279: 81-9. PMID 11722848 DOI: 10.1016/S0378-1119(01)00737-5 |
0.413 |
|
| 2001 |
Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY. Familial dysautonomia is caused by mutations of the IKAP gene. American Journal of Human Genetics. 68: 753-8. PMID 11179021 DOI: 10.1086/318808 |
0.528 |
|
| 1999 |
Anderson SL, Carton JM, Zhang X, Rubin BY. Genomic organization and chromosomal localization of a new member of the murine interferon-induced guanylate-binding protein family. Journal of Interferon & Cytokine Research : the Official Journal of the International Society For Interferon and Cytokine Research. 19: 487-94. PMID 10386861 DOI: 10.1089/107999099313938 |
0.362 |
|
| 1997 |
Shen T, Anderson SL, Rubin BY. Use of alternative polyadenylation sites in the synthesis of mRNAs encoding the interferon-induced tryptophanyl tRNA synthetase. Gene. 179: 225-9. PMID 8972904 DOI: 10.1016/S0378-1119(96)00361-7 |
0.308 |
|
| 1994 |
Anderson SL, Shen T, Lou J, Xing L, Blachere NE, Srivastava PK, Rubin BY. The endoplasmic reticular heat shock protein gp96 is transcriptionally upregulated in interferon-treated cells. The Journal of Experimental Medicine. 180: 1565-9. PMID 7523574 DOI: 10.1084/jem.180.4.1565 |
0.321 |
|
| 1994 |
Lou J, Anderson SL, Xing L, Rubin BY. Suppression of mitochondrial mRNA levels and mitochondrial function in cells responding to the anticellular action of interferon. Journal of Interferon Research. 14: 33-40. PMID 7517985 DOI: 10.1089/jir.1994.14.33 |
0.343 |
|
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