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of 5
pro vyhledávání: '"Andrea L. Uscinski Knob"'
Autor:
Maris S. Wilkins, Lihong Bu, Minxian Wang, Ava Benjamin, Andrea L. Uscinski Knob, Martin R. Pollak, Justin Chun
Publikováno v:
Kidney International Reports
Kidney International Reports, Vol 5, Iss 4, Pp 519-529 (2020)
Kidney International Reports, Vol 5, Iss 4, Pp 519-529 (2020)
Introduction: Focal segmental glomerulosclerosis (FSGS) is a histopathologically defined kidney lesion. FSGS can be observed with various underlying causes, including highly penetrant monogenic renal disease. We recently identified pathogenic variant
Autor:
Justin Chun, Minxian Wang, Ava Benjamin, Richard P. Lifton, Giulio Genovese, Andrea L. Uscinski Knob, David J. Friedman, Gerald B. Appel, Shrikant Mane, Martin R. Pollak, Maris S. Wilkins
Publikováno v:
J Am Soc Nephrol
Background Over the past two decades, the importance of genetic factors in the development of FSGS has become increasingly clear. However, despite many known monogenic causes of FSGS, single gene defects explain only 30% of cases. Methods To investig
Autor:
Gerald B. Appel, Giulio Genovese, Alexander Needham, Stephen Tonna, Avi Katz, Ross Lazarus, Andrea J. Bernhardy, Martin R. Pollak, Andrea L. Uscinski Knob
Publikováno v:
Kidney International. 78(7):698-704
Genetic variation at the MYH9 locus is linked to the high incidence of focal segmental glomerulosclerosis (FSGS) and non-diabetic end-stage renal disease among African Americans. To further define risk alleles with FSGS we performed a genome-wide ass
Autor:
Pamela J. Hicks, George W. Nelson, Martin R. Pollak, Giulio Genovese, Andrea L. Uscinski Knob, Laurence Lecordier, Etienne Pays, Pierrick Uzureau, Barry I. Freedman, David J. Friedman, Donald W. Bowden, Cheryl A. Winkler, Taras K. Oleksyk, Carl D. Langefeld, Andrea J. Bernhardy, Jeffrey B. Kopp, Michael D. Ross, Benoit Vanhollebeke
Publikováno v:
Science. 329:841-845
Out of Africa Kidney disease is more common in African Americans than in Americans of European descent, and genetics is likely to be a major contributing factor. Genovese et al. (p. 841 , published online 15 July) now show that African Americans who
Autor:
Andrea L. Uscinski Knob
Publikováno v:
Seminars in Nephrology. 30:431-437
The advancement of genetic information and increased access to genetic testing options requires renal clinicians to expand their working knowledge of genetics and translate this information in a way that is meaningful to their patients. It is helpful