Hyperuricemic nephropathy is a group of disorders in which an early rise in serum uric acid levels leads to kidney failure.
| 2. |
Zivná M et al. (2009) Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
|
| 3. |
McBride MB et al. (1998) Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.
|
| 4. |
Stibůrková B et al. (2000) Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.
|
| 5. |
Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
|
| 6. |
Turner JJ et al. (2003) UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
|
| 7. |
Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
|
| 8. |
Vylet'al P et al. (2006) Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
|
| 9. |
Morton NE et al. (1977) Genetic epidemiology of Lesch-Nyhan disease.
|
| 10. |
None (1977) A probable sex difference in some mutation rates.
|
| 11. |
Gartler SM et al. (1975) Half chromatid mutations: transmission in humans?
|
| 12. |
Francke U et al. (1976) The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
|
| 13. |
Wilson JM et al. (1986) A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
|
| 14. |
Kelley WN et al. (1967) A specific enzyme defect in gout associated with overproduction of uric acid.
|
| 15. |
Nabholz M et al. (1969) Genetic analysis with human--mouse somatic cell hybrids.
|
| 16. |
McDonald JA et al. (1971) Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.
|
| 17. |
Silvers DN et al. (1972) Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis.
|
| 18. |
Migeon BR et al. (1968) X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
|
| 19. |
Yü TF et al. (1972) Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.
|
| 20. |
Nyhan WL et al. (1970) Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
|
| 21. |
Greene ML et al. (1970) Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.
|
| 22. |
Henderson JF et al. (1969) Inheritance of purine phosphoribosyltransferases in man.
|
| 23. |
Seegmiller JE et al. (1967) Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
|
| 24. |
Rosenbloom FM et al. (1967) Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.
|
| 25. |
Lloyd KG et al. (1981) Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.
|
| 26. |
Strauss GH et al. (1980) An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.
|
| 27. |
Ernst M et al. (1996) Presynaptic dopaminergic deficits in Lesch-Nyhan disease.
|
| 28. |
Nyhan WL et al. (1996) New approaches to understanding Lesch-Nyhan disease.
|
| 29. |
Wong DF et al. (1996) Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo.
|
| 30. |
Graham GW et al. (1996) Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.
|
| 32. |
Srivastava T et al. (2002) Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
|
| 33. |
LESCH M et al. (1964) A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
|
| 34. |
HOEFNAGEL D et al. (1965) HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.
|
| 35. |
Francke U et al. (1977) Answer to criticism of Morton and Lalouel.
|
| 36. |
Dehghan A et al. (2008) Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
|
| 37. |
Matsuo H et al. (2009) Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.
|
| 38. |
Döring A et al. (2008) SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.
|
| 39. |
Vitart V et al. (2008) SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
|
| 40. |
Matsuo H et al. (2008) Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.
|
| 41. |
Martinon F et al. (2006) Gout-associated uric acid crystals activate the NALP3 inflammasome.
|
| 42. |
Hodanová K et al. (2005) Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
|
| 43. |
Cameron JS et al. (1990) Precocious familial gout.
|
| 44. |
Van Goor W et al. (1971) An unusual form of renal disease associated with gout and hypertension.
|
| 45. |
Leumann EP et al. (1983) Familial nephropathy with hyperuricemia and gout.
|
| 46. |
Massari PU et al. (1980) Familial hyperuricemia and renal disease.
|
| 47. |
Simmonds HA et al. (1980) Familial gout and renal failure in young women.
|
| 48. |
Saeki A et al. (1995) Newly discovered familial juvenile gouty nephropathy in a Japanese family.
|
| 49. |
McBride MB et al. (1997) Familial renal disease or familial juvenile hyperuricaemic nephropathy?
|
| 50. |
Kamatani N et al. (2000) Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.
|
| 51. |
Fairbanks LD et al. (2002) Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease.
|
| 52. |
Stacey JM et al. (2003) Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
|
| 53. |
DUNCAN H et al. (1960) Gout, familial hypericaemia, and renal disease.
|
| 54. |
Dahan K et al. (2003) A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
|
| 55. |
Zaucke F et al. (2010) Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
|
| 56. |
Bernascone I et al. (2010) A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.
|
| 57. |
Piret SE et al. (2011) Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.
|
| 58. |
Frank M et al. (1979) Familial renal hypouricaemia: two additional cases with uric acid lithiasis.
|
| 59. |
Bakay B et al. (1979) Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.
|
| 60. |
Benjamin D et al. (1978) Familial hypouricemia due to isolated renal tubular abnormality.
|
| 61. |
Upchurch KS et al. (1975) Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.
|
| 62. |
Ghangas GS et al. (1975) Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.
|
| 63. |
Akaoka I et al. (1975) Familial hypouricaemia due to renal tubular defect of urate transport.
|
| 64. |
Yukawa T et al. (1992) A female patient with Lesch-Nyhan syndrome.
|
| 65. |
Moro F et al. (1991) Does allopurinol affect the progression of familial juvenile gouty nephropathy?
|
| 66. |
Yokota N et al. (1991) Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family.
|
| 67. |
Moro F et al. (1991) Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease.
|
| 68. |
Sanberg PR et al. (1990) Neural basis of behavior: animal models of human conditions.
|
| 69. |
Gafter U et al. (1989) Hypouricemia due to familial isolated renal tubular uricosuria. Evaluation with the combined pyrazinamide-probenecid test.
|
| 70. |
Page T et al. (1987) Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
|
| 71. |
Andrés A et al. (1987) Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.
|
| 72. |
Takeda E et al. (1985) Hereditary renal hypouricemia in children.
|
| 73. |
van der Zee SP et al. (1968) Megaloblastic anaemia in the Lesch-Nyhan syndrome.
|
| 74. |
Fujimoto WY et al. (1968) Biochemical diagnosis of an X-linked disease in utero.
|
| 75. |
Khachadurian AK et al. (1973) Hypouricemia due to renal uricosuria. A case study.
|
| 76. |
Albertini RJ et al. (1973) Somatic cell mutation. Detection and quantification of x-ray-induced mutation in cultured, diploid human fibroblasts.
|
| 77. |
Greene ML et al. (1972) Hypouricemia due to isolated renal tubular defect. Dalmatian dog mutation in man.
|
| 78. |
Boyle JA et al. (1970) Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.
|
| 79. |
Gibbs DA et al. (1984) First-trimester diagnosis of Lesch-Nyhan syndrome.
|
| 80. |
Harkness RA et al. (1983) Xanthine oxidase deficiency and 'Dalmatian' hypouricaemia: incidence and effect of exercise.
|
| 81. |
Shichiri M et al. (1982) Hypouricemia due to an increment in renal tubular urate secretion.
|
| 82. |
Weitz R et al. (1980) Hereditary renal hypouricemia. Isolated tubular defect of urate reabsorption.
|
| 83. |
Hedley JM et al. (1980) Familial hypouricaemia associated with renal tubular uricosuria and uric acid calculi: case report.
|
| 84. |
Jinnah HA et al. (1994) Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.
|
| 85. |
None (1997) The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
|
| 86. |
Enomoto A et al. (2002) Molecular identification of a renal urate anion exchanger that regulates blood urate levels.
|
| 87. |
Tanaka M et al. (2003) Two male siblings with hereditary renal hypouricemia and exercise-induced ARF.
|
| 88. |
Ichida K et al. (2008) Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.
|
| 89. |
Hladnik U et al. (2008) Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
|
| 90. |
Ceballos-Picot I et al. (2009) Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
|
| 91. |
Cristini S et al. (2010) Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.
|
| 92. |
Sarafoglou K et al. (2010) Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.
|
| 93. |
Fu R et al. (2015) Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
|
| 94. |
None (1979) Genetics of hyperuricemia in families with gout.
|
| 95. |
Healey LA et al. (1967) Hyperuricemia in Filipinos: interaction of heredity and environment.
|
| 96. |
HAUGE M et al. (1955) Heredity in gout and hyperuricemia.
|
| 97. |
None (1960) Heredity in primary gout.
|
| 98. |
NEEL JV et al. (1965) STUDIES ON HYPERURICEMIA. II. A RECONSIDERATION OF THE DISTRIBUTION OF SERUM URIC ACID VALUES IN THE FAMILIES OF SMYTH, COTTERMAN, AND FREYBERG.
|
| 99. |
Cheng LS et al. (2004) Genomewide scan for gout in taiwanese aborigines reveals linkage to chromosome 4q25.
|
| 100. |
Woodward OM et al. (2011) ABCG transporters and disease.
|
| 101. |
Köttgen A et al. (2013) Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
| 102. |
Belostotsky R et al. (2011) Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
|
| 103. |
Sulem P et al. (2011) Identification of low-frequency variants associated with gout and serum uric acid levels.
|
| 104. |
Orphanet article Orphanet ID 209886
|