Research Topics
Genomes and GenesSpecies | D MillinerSummaryAffiliation: Mayo Clinic Country: USA Publications
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Detail Information
Publications
Phenotypic expression of primary hyperoxaluria: comparative features of types I and IID S Milliner
Division of Nephrology, Mayo Clinic, Rochester, Minnesota 55905, USA
Kidney Int 59:31-6. 2001..Marked hyperoxaluria results in urolithiasis, renal failure, and systemic oxalosis. A direct comparison of PHI and PHII has not previously been available...
Treatment of the primary hyperoxalurias: a new chapterD Milliner
Mayo Clinic Hyperoxaluria Center, Rochester, Minnesota 55905, USA
Kidney Int 70:1198-200. 2006..Oxalobacter formigenes is a promising new therapy with potential to induce secretion of oxalate into the intestinal lumen, where it can be degraded by the bacteria...
Stones, bones, and heredityDawn S Milliner
Division of Nephrology, Mayo Clinic Hyperoxaluria Centre, Mayo Clinic College of Medicine, Rochester, Minnisota 55905, USA
Acta Paediatr Suppl 95:27-30. 2006..These disorders of calcium urolithiasis illustrate the value of molecular medicine for diagnosis and the promise it provides for innovative and more effective future treatments...
The primary hyperoxalurias: an algorithm for diagnosisDawn S Milliner
Mayo Clinic Hyperoxaluria Center, Division of Nephrology, Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
Am J Nephrol 25:154-60. 2005..Clinicians are likely to encounter few PH patients during a practicing lifetime. Definitive diagnosis requires special studies performed in only a small number of laboratories worldwide. Accordingly, delays in diagnosis are common...
Outcomes and complications of pregnancy in women with primary hyperoxaluriaSuzanne M Norby
Division of Nephrology, Mayo Clinic, Rochester, MN 55905, USA
Am J Kidney Dis 43:277-85. 2004..This study sought to determine the number and outcomes of pregnancies in a series of women with PH-I and PH-II, to assess the incidence of complications during pregnancy, and to characterize infant outcomes...
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosisCarla G Monico
Mayo Clinic Hyperoxaluria Center and Department of Internal Medicine, Division of Nephrology, Mayo Clinic College of Medicine, Rochester, MN 55902, USA
J Am Soc Nephrol 18:1905-14. 2007..Also reported here is previously unavailable evidence for the pathogenic basis of all AGXT missense variants, including evolutionary conservation data in a multisequence alignment and use of a normal control population...
Enteric hyperoxaluria, nephrolithiasis, and oxalate nephropathy: potentially serious and unappreciated complications of Roux-en-Y gastric bypassWayne K Nelson
Mayo Medical School, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
Surg Obes Relat Dis 1:481-5. 2005..CONCLUSION: Enteric hyperoxaluria, nephrolithiasis, and oxalate nephropathy must be considered with the other risks of RYGBP. Efforts should be made to identify factors that predispose patients to developing hyperoxaluria...
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or IICarla G Monico
Division of Nephrology, General Clinical Research Center, Mayo Clinic Rochester, Minnesota 55905, USA
Kidney Int 62:392-400. 2002..Hepatic glycolate oxidase (GO) is a candidate enzyme for a third form of inherited hyperoxaluria...
International registry for primary hyperoxaluriaJohn C Lieske
Department of Internal Medicine, Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
Am J Nephrol 25:290-6. 2005..Primary hyperoxaluria (PH) is an inherited disorder that causes calcium urolithiasis and renal failure. Due to its rarity, experience at most centers with this disease is limited...
Early subclinical coronary artery calcification in young adults who were pediatric kidney transplant recipientsMichael B Ishitani
William J von Liebig Transplant Center, Mayo Medical School, Foundation and Clinic, Rochester, MN, USA
Am J Transplant 5:1689-93. 2005..These data suggest young adults who received pediatric kidney transplants are at increased risk for developing early CAC and need close monitoring to detect early CAD so as to prevent premature cardiac morbidity and mortality...
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluriaCarla G Monico
Mayo Clinic Hyperoxaluria Center, Division of Pediatric Nephrology, Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
Am J Nephrol 25:183-8. 2005..Two patients showed responses varying from this pattern. To further clarify the molecular basis of VB6 response in PHI, we performed additional genotyping...
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant alleleCarla G Monico
Mayo Clinic College of Medicine, Mayo Clinic Foundation, Rochester, Minnesota 55905, USA
Kidney Int 67:1704-9. 2005..Mechanisms of VB6 action on hepatic alanine:glyoxylate aminotransferase (AGT), the deficient enzyme in PHI, and VB6 dose response have not been well-characterized...
Sonographically guided percutaneous radio frequency ablation of a renal cell carcinoma in a transplanted kidneyJ William Charboneau
Department of Radiology, Mayo Clinic, Rochester, Minnesota 55905, USA
J Ultrasound Med 21:1299-302. 2002..Radio frequency ablation is an effective treatment for focal renal cell carcinoma (RCC). We report a patient with RCC in a transplanted kidney that was successfully treated with percutaneous sonographically guided radio frequency ablation...
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2John Knight
Department of Urology, Wake Forest University School of Medicine, Medical Center Blvd, Winston Salem, NC 27157, USA
Nephrol Dial Transplant 21:2292-5. 2006..In this study, we have evaluated the potential of determining GR and d-glycerate dehydrogenase (DGDH) activity in blood mononuclear cells (BMC) as a diagnostic indicator of PH2...
Hand-assisted laparoscopic donor nephrectomy for pediatric kidney allograft recipientsDean Y Kim
Department of Surgery, Division of Transplantation Surgery, William J. von Liebig Transplant Center, Mayo Medical School, Foundation and Clinic, 200 First Street SW, Rochester, MN 55905, USA
Pediatr Transplant 8:460-3. 2004..In conclusion, hand-assisted LDN is a safe method of procuring kidneys from potential donors with no significant negative outcomes to the pediatric recipients...
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like proteinChristopher J Ward
Division of Nephrology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905, USA
Nat Genet 30:259-69. 2002..Fibrocystin may be a receptor protein that acts in collecting-duct and biliary differentiation...
Pediatric renal-replacement therapy--coming of ageDawn S Milliner
Division of Pediatric Nephrology, Mayo Clinic, Rochester, Minn, USA
N Engl J Med 350:2637-9. 2004
Renal artery intervention in pediatric and adolescent patients: a 20-year experienceYing Huang
Division of Vascular Surgery, Gonda Vascular Center, Mayo Clinic, Rochester, Minnesota 55905, USA
Vasc Endovascular Surg 41:490-9. 2007..The authors conclude that both OR and PTRA benefit pediatric patients. PTRA for selected patients may be promising as a first line treatment or as a bridge to definitive OR in children with small arteries...
Research Grants
- 7th International Workshop on Primary HyperoxaluriaDawn Milliner; Fiscal Year: 2005..Recent crystallization of the AGT protein, and advances in the molecular genetics, diagnostic testing, and pharmacogenomics of PH make 2004 an exciting year for the 7th Workshop. ..
- Prevention of Renal Damage in Primary HyperoxaluriaDawn Milliner; Fiscal Year: 2007..Clinical data, samples, and research protocols completed via the Registry will allow rapid testing of hypotheses and promote worldwide collaboration to advance the care of PH patients. ..
