Biobrophy Patrick Brophy Research Lab – Mutational Analysis

Patrick Brophy, M.D.
Assistant Professor of Pediatrics
University of Iowa
Department of Pediatrics
email Dr. Brophy [click here]

Our research focuses on the molecular genetics and functional mechanisms of normal and abnormal development of the kidneys and genitourinary (GU) tract. Laboratory interests focus on transcription factors and cellular signaling involved with mesenchymal to epithelial transition and metanephrogenesis, as well as identifying genetic lesions involved with selected renal diseases. Clinical research interests involve Continuous Renal Replacement Therapy, Lupus, PKD and antenatal renal abnormalities.

Recent Publications:
1. Clarke J, Honey EM, Bekker E, Snyman LC, Lord C, Raymond RM Jr, Brophy PD . A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. Clin Genet 2006: 70 (1): 63-67.

2. Clarke J, Honey EM, Raymond RM Jr, Lord C, Brophy PD Identification of a novel nonsense mutation in the EYA1 gene associated with branchiootic/branchio-oto-renal syndrome. Pediatr Res. 2005 Oct;58(4):819.

3. Brophy PD , Clarke J, Raymond RM Jr. Identifying the mouse gene responsible for congenital progressive hydronephrosis (Cph). Pediatr Res. 2005 Oct;58(4):817.

4. Brophy PD , Somers MJ, Baum MA, Symons JM, McAfee N, Fortenberry JD, Rogers K, Barnett J, Blowey D, Baker C, Bunchman TE, Goldstein SL. Multi-centre evaluation of anticoagulation in patients receiving continuous renal replacement therapy (CRRT). Nephrol Dial Transplant. 2005 Jul;20(7):1416-21. Epub 2005 Apr 26. PMID: 15855212

5. McBryde KD, Bunchman TE, Kudelka TL, Pasko DA, Brophy PD Hyperosmolar solutions in continuous renal replacement therapy for hyperosmolar acute renal failure: a preliminary report. Pediatr Crit Care Med. 2005 Mar;6(2):220-5. PMID: 15730613

6. Goldstein SL, Somers MJ, Baum MA, Symons JM, Brophy PD , Blowey D, Bunchman TE, Baker C, Mottes T, McAfee N, Barnett J, Morrison G, Rogers K, Fortenberry JD. Pediatric patients with multi-organ dysfunction syndrome receiving continuous renal replacement therapy. Kidney Int. 2005 Feb;67(2):653-8. PMID: 15673313

7. Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F . SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 101(21): 8090 – 8095, 2004 May 12.

8. Bunchman TE, Maxvold NJ, Brophy PDPediatric convective hemofiltration: Normocarb replacement fluid and citrate anticoagulation. Am J Kidney Dis. 2003 Dec;42(6):1248-52.

9. Brophy PD, Lang KM, Dressler GR. The secreted frizzled related protein 2 (SFRP2) gene is a target of the Pax2 transcription factor. J Biol Chem. 2003 Dec 26;278(52):52401-5.

10. Cai Y, Brophy PD, Levitan I, Stifani S, Dressler GR. Groucho suppresses Pax2 transactivation by inhibition of JNK-mediated phosphorylation. EMBO J. 2003 Oct 15;22(20):5522-9.

11. Symons JM, Brophy PD, Gregory MJ, McAfee N, Somers MJ, Bunchman TE, Goldstein SL. Continuous renal replacement therapy in children up to 10 kg. Am J Kidney Dis. 2003 May;41(5):984-9.

12. Brophy PD, Ostrom L, Lang KM, Dressler GR. Regulation of ureteric bud outgrowth by Pax2-dependent activation of the glial derived neurotrophic factor gene. Development. 2001 Dec;128(23):4747-56.