메뉴 건너뛰기




Volumn 88, Issue 1, 2003, Pages 464-470

Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13

Author keywords

[No Author keywords available]

Indexed keywords

URATE;

EID: 0037244798     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021268     Document Type: Article
Times cited : (21)

References (29)
  • 1
    • 72949151443 scopus 로고
    • Gout, familial hyperuricaemia and renal disease
    • Duncan H, Dixon ACJ 1960 Gout, familial hyperuricaemia and renal disease. Q J Med 29:127-136
    • (1960) Q J Med , vol.29 , pp. 127-136
    • Duncan, H.1    Dixon, A.C.J.2
  • 2
    • 0025310256 scopus 로고
    • Precocious familial gout with reduced fractional urate clearance and normal purine enzymes
    • Calabrese G, Simmonds HA, Cameron JS, Davies PM 1990 Precocious familial gout with reduced fractional urate clearance and normal purine enzymes. Q J Med 75:441-450
    • (1990) Q J Med , vol.75 , pp. 441-450
    • Calabrese, G.1    Simmonds, H.A.2    Cameron, J.S.3    Davies, P.M.4
  • 6
    • 0031808242 scopus 로고    scopus 로고
    • How should we treat tophaceous gout in patients with allopurinol hypersensitivity?
    • Grahame R, Simmonds HA, McBride MB, Marsh FP 1998 How should we treat tophaceous gout in patients with allopurinol hypersensitivity? Adv Exp Med Biol 431:19-23
    • (1998) Adv Exp Med Biol , vol.431 , pp. 19-23
    • Grahame, R.1    Simmonds, H.A.2    McBride, M.B.3    Marsh, F.P.4
  • 9
    • 0033850904 scopus 로고    scopus 로고
    • Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family
    • Kamatani N, Moritani M, Yamanaka H, Takeuchi F, Hosoya T, Itakura M 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. Arthritis Rheum 43:925-929
    • (2000) Arthritis Rheum , vol.43 , pp. 925-929
    • Kamatani, N.1    Moritani, M.2    Yamanaka, H.3    Takeuchi, F.4    Hosoya, T.5    Itakura, M.6
  • 10
    • 0033928339 scopus 로고    scopus 로고
    • Familial juvenile hyperuricemic nephropathy: Localization of the gene on chromosome 16p11.2 and evidence for genetic heterogeneity
    • Stiburkova B, Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S 2000 Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2 and evidence for genetic heterogeneity. Am J Hum Genet 66:1989-1994
    • (2000) Am J Hum Genet , vol.66 , pp. 1989-1994
    • Stiburkova, B.1    Majewski, J.2    Sebesta, I.3    Zhang, W.4    Ott, J.5    Kmoch, S.6
  • 13
    • 0036020930 scopus 로고    scopus 로고
    • Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations
    • Kotanko P, Gebetsroither E, Skrabal F 2002 Familial juvenile hyperuricaemic nephropathy in a Caucasian family associated with inborn malformations. Nephrol Dial Transplant 17:1333-1335
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1333-1335
    • Kotanko, P.1    Gebetsroither, E.2    Skrabal, F.3
  • 14
    • 0031805911 scopus 로고    scopus 로고
    • Apoptosis of tubular epithelial cells in familial juvenile gouty nephropathy
    • Lhotta K, Gruber J, Sgonc R, Fend F, Konig P 1998 Apoptosis of tubular epithelial cells in familial juvenile gouty nephropathy. Nephron 79:340-344
    • (1998) Nephron , vol.79 , pp. 340-344
    • Lhotta, K.1    Gruber, J.2    Sgonc, R.3    Fend, F.4    Konig, P.5
  • 16
    • 0033366514 scopus 로고    scopus 로고
    • Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13
    • Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV 1999 Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. Am J Hum Genet 64:189-195
    • (1999) Am J Hum Genet , vol.64 , pp. 189-195
    • Lloyd, S.E.1    Pannett, A.A.2    Dixon, P.H.3    Whyte, M.P.4    Thakker, R.V.5
  • 17
    • 0029073170 scopus 로고
    • Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH
    • Trump D, Whyte MP, Wooding C, Pang JT, Pearce SH, Kocher DB, Thakker RV 1995 Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH. Hum Genet 96:183-187
    • (1995) Hum Genet , vol.96 , pp. 183-187
    • Trump, D.1    Whyte, M.P.2    Wooding, C.3    Pang, J.T.4    Pearce, S.H.5    Kocher, D.B.6    Thakker, R.V.7
  • 18
    • 0025332731 scopus 로고
    • Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies
    • Thakker RV, Davies KE, Whyte MP, Wooding C, O'Riordan JL 1990 Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J Clin Invest 86:40-45
    • (1990) J Clin Invest , vol.86 , pp. 40-45
    • Thakker, R.V.1    Davies, K.E.2    Whyte, M.P.3    Wooding, C.4    O'Riordan, J.L.5
  • 19
    • 0017192186 scopus 로고
    • A computer program for linkage analysis of general human pedigrees
    • Ott J 1976 A computer program for linkage analysis of general human pedigrees. Am J Hum Genet 28:528-529
    • (1976) Am J Hum Genet , vol.28 , pp. 528-529
    • Ott, J.1
  • 22
    • 0019968569 scopus 로고
    • Juvenile nephronophthisis and medullary cystic disease-the same disease (report of a large family with medullary cystic disease associated with gout and epilepsy)
    • Burke JR, Inglis JA, Craswell PW, Mitchell KR, Emmerson BT 1982 Juvenile nephronophthisis and medullary cystic disease-the same disease (report of a large family with medullary cystic disease associated with gout and epilepsy). Clin Nephrol 18:1-8
    • (1982) Clin Nephrol , vol.18 , pp. 1-8
    • Burke, J.R.1    Inglis, J.A.2    Craswell, P.W.3    Mitchell, K.R.4    Emmerson, B.T.5
  • 23
    • 0018053235 scopus 로고
    • Familial occurrence of hyperuricemia, gout, and medullary cystic disease
    • Thompson GR, Weiss JJ, Goldman RT, Rigg GA 1978 Familial occurrence of hyperuricemia, gout, and medullary cystic disease. Arch Intern Med 138:1614-1617
    • (1978) Arch Intern Med , vol.138 , pp. 1614-1617
    • Thompson, G.R.1    Weiss, J.J.2    Goldman, R.T.3    Rigg, G.A.4
  • 26
    • 0029586683 scopus 로고
    • A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity
    • Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP 1995 A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci USA 92:11495-11499
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 11495-11499
    • Hansson, J.H.1    Schild, L.2    Lu, Y.3    Wilson, T.A.4    Gautschi, I.5    Shimkets, R.6    Nelson-Williams, C.7    Rossier, B.C.8    Lifton, R.P.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.