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Volumn 172, Issue 1, 2013, Pages 107-110

Renal phenotypic variability in HDR syndrome: Glomerular nephropathy as a novel finding

Author keywords

GATA 3 gene; Glomerulonephritis; HDR syndrome

Indexed keywords

ANTIBIOTIC AGENT; CREATININE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; INDOMETACIN; PARATHYROID HORMONE; SPIRONOLACTONE;

EID: 84872603684     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1845-y     Document Type: Article
Times cited : (23)

References (24)
  • 1
    • 32944459130 scopus 로고    scopus 로고
    • A novel mutation in the GATA3 gene in a family with HDR syndrome (hypoparathyroidism, sensorineural deafness and renal anomaly syndrome)
    • 16509533 10.1515/JPEM.2006.19.1.87 1:CAS:528:DC%2BD28XisFWltL8%3D
    • Adachi M, Tachibana K, Asakura Y, Tsuchiya T (2006) A novel mutation in the GATA3 gene in a family with HDR syndrome (hypoparathyroidism, sensorineural deafness and renal anomaly syndrome). J Pediatr Endocrinol Metab 19:87-92
    • (2006) J Pediatr Endocrinol Metab , vol.19 , pp. 87-92
    • Adachi, M.1    Tachibana, K.2    Asakura, Y.3    Tsuchiya, T.4
  • 3
    • 80052474614 scopus 로고    scopus 로고
    • Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia
    • 21399899 10.1007/s00467-011-1835-8
    • Al-Shibli A, Al Attrach I, Willems PJ (2011) Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia. Pediatr Nephrol 26:1167-1170
    • (2011) Pediatr Nephrol , vol.26 , pp. 1167-1170
    • Al-Shibli, A.1    Al Attrach, I.2    Willems, P.J.3
  • 4
    • 0026728345 scopus 로고
    • Brief report: Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia
    • 1522843 10.1056/NEJM199210083271506 1:STN:280:DyaK38zps1Wlsg%3D%3D
    • Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, Mathias D, Kendall-Taylor P (1992) Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med 327:1069-1074
    • (1992) N Engl J Med , vol.327 , pp. 1069-1074
    • Bilous, R.W.1    Murty, G.2    Parkinson, D.B.3    Thakker, R.V.4    Coulthard, M.G.5    Burn, J.6    Mathias, D.7    Kendall-Taylor, P.8
  • 5
    • 33751529515 scopus 로고    scopus 로고
    • Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population
    • 16912130 10.1210/jc.2006-0864 1:CAS:528:DC%2BD28Xht1WhurnO
    • Chiu WY, Chen HW, Chao HW, Yann LT, Tsai KS (2006) Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. J Clin Endocrinol Metab 91:4587-4592
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 4587-4592
    • Chiu, W.Y.1    Chen, H.W.2    Chao, H.W.3    Yann, L.T.4    Tsai, K.S.5
  • 8
    • 70349923432 scopus 로고    scopus 로고
    • A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome
    • 19723756 10.1210/jc.2009-0717 1:CAS:528:DC%2BD1MXht12ru7nL
    • Gaynor KU, Grigorieva IV, Nesbit MA, Cranston T, Gomes T, Gortner L, Thakker RV (2009) A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab 94:3897-3904
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3897-3904
    • Gaynor, K.U.1    Grigorieva, I.V.2    Nesbit, M.A.3    Cranston, T.4    Gomes, T.5    Gortner, L.6    Thakker, R.V.7
  • 9
    • 0030734503 scopus 로고    scopus 로고
    • HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)
    • 9415468 10.1002/(SICI)1096-8628(19971231)73:4<416: AID-AJMG9>3.0.CO;2-L 1:STN:280:DyaK1c%2FnsF2msg%3D%3D
    • Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim KC, Ohashi H, Wakui K, Fukushima Y (1997) HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 73:416-418
    • (1997) Am J Med Genet , vol.73 , pp. 416-418
    • Hasegawa, T.1    Hasegawa, Y.2    Aso, T.3    Koto, S.4    Nagai, T.5    Tsuchiya, Y.6    Kim, K.C.7    Ohashi, H.8    Wakui, K.9    Fukushima, Y.10
  • 11
    • 0029047090 scopus 로고
    • The GATA-3 gene is expressed during human kidney embryogenesis
    • 7643528 10.1038/ki.1995.223 1:STN:280:DyaK2MzntFalsA%3D%3D
    • Labastie MC, Catala M, Gregoire JM, Peault B (1995) The GATA-3 gene is expressed during human kidney embryogenesis. Kidney Int 47:1597-1603
    • (1995) Kidney Int , vol.47 , pp. 1597-1603
    • Labastie, M.C.1    Catala, M.2    Gregoire, J.M.3    Peault, B.4
  • 12
    • 17744381231 scopus 로고    scopus 로고
    • Identification of a novel insertion mutation in GATA3 with HDR syndrome
    • 15830275 10.1007/s10157-004-0327-6 1:CAS:528:DC%2BD2MXktVOksL4%3D
    • Mino Y, Kuwahara T, Mannami T, Shioji K, Ono K, Iwai N (2005) Identification of a novel insertion mutation in GATA3 with HDR syndrome. Clin Exp Nephrol 9:58-61
    • (2005) Clin Exp Nephrol , vol.9 , pp. 58-61
    • Mino, Y.1    Kuwahara, T.2    Mannami, T.3    Shioji, K.4    Ono, K.5    Iwai, N.6
  • 13
    • 81155161813 scopus 로고    scopus 로고
    • A new case of HDR syndrome with severe female genital tract malformation: Comment on "novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernandez et al
    • 21834031
    • Moldovan O, Carvalho R, Jorge Z, Medeira A (2011) A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernandez et al. Am J Med Genet A 155A:2329-2330
    • (2011) Am J Med Genet A , vol.155 , pp. 2329-2330
    • Moldovan, O.1    Carvalho, R.2    Jorge, Z.3    Medeira, A.4
  • 15
    • 77649228877 scopus 로고    scopus 로고
    • Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation
    • 19952462 10.1507/endocrj.K09E-313
    • Muroya K, Mochizuki T, Fukami M, Iso M, Fujita K, Itakura M, Ogata T (2010) Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation. Endocr J 57:171-174
    • (2010) Endocr J , vol.57 , pp. 171-174
    • Muroya, K.1    Mochizuki, T.2    Fukami, M.3    Iso, M.4    Fujita, K.5    Itakura, M.6    Ogata, T.7
  • 19
    • 64949185976 scopus 로고    scopus 로고
    • A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism
    • 19057839 10.1007/s00774-008-0015-9 1:CAS:528:DC%2BD1MXksF2hsr4%3D
    • Saito T, Fukumoto S, Ito N, Suzuki H, Igarashi T, Fujita T (2009) A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism. J Bone Miner Metab 27:386-389
    • (2009) J Bone Miner Metab , vol.27 , pp. 386-389
    • Saito, T.1    Fukumoto, S.2    Ito, N.3    Suzuki, H.4    Igarashi, T.5    Fujita, T.6
  • 20
    • 78650304399 scopus 로고    scopus 로고
    • The enhancer HS2 critically regulates GATA-3-mediated Il4 transcription in T(H)2 cells
    • 21131966 10.1038/ni.1966 1:CAS:528:DC%2BC3cXhsFajurzJ
    • Tanaka S, Motomura Y, Suzuki Y, Yagi R, Inoue H, Miyatake S, Kubo M (2011) The enhancer HS2 critically regulates GATA-3-mediated Il4 transcription in T(H)2 cells. Nat Immunol 12:77-85
    • (2011) Nat Immunol , vol.12 , pp. 77-85
    • Tanaka, S.1    Motomura, Y.2    Suzuki, Y.3    Yagi, R.4    Inoue, H.5    Miyatake, S.6    Kubo, M.7
  • 21
    • 38649123703 scopus 로고    scopus 로고
    • Expression of mRNA for functional molecules in urinary sediment in glomerulonephritis
    • 18095005 10.1007/s00467-007-0683-z
    • Tsugawa K, Oki E, Suzuki K, Imaizumi T, Ito E, Tanaka H (2008) Expression of mRNA for functional molecules in urinary sediment in glomerulonephritis. Pediatr Nephrol 23:395-401
    • (2008) Pediatr Nephrol , vol.23 , pp. 395-401
    • Tsugawa, K.1    Oki, E.2    Suzuki, K.3    Imaizumi, T.4    Ito, E.5    Tanaka, H.6
  • 24
    • 20244388392 scopus 로고    scopus 로고
    • Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
    • 15705923 10.1210/jc.2004-1969 1:CAS:528:DC%2BD2MXjsFWisL4%3D
    • Zahirieh A, Nesbit MA, Ali A, Wang K, He N, Stangou M, Bamichas G, Sombolos K, Thakker RV, Pei Y (2005) Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab 90:2445-2450
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 2445-2450
    • Zahirieh, A.1    Nesbit, M.A.2    Ali, A.3    Wang, K.4    He, N.5    Stangou, M.6    Bamichas, G.7    Sombolos, K.8    Thakker, R.V.9    Pei, Y.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.