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Volumn 65, Issue 2, 2004, Pages 369-385

Ear and kidney syndromes: Molecular versus clinical approach

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTEGRIN; BETA1 INTEGRIN; BONE MORPHOGENETIC PROTEIN; FIBROBLAST GROWTH FACTOR; FRIZZLED PROTEIN; GENE PRODUCT; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; TRANSCRIPTION FACTOR FKHR; TRANSCRIPTION FACTOR GATA 3; WNT1 PROTEIN;

EID: 1642561731     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.2004.00390.x     Document Type: Review
Times cited : (54)

References (144)
  • 1
    • 0001792531 scopus 로고
    • Bilateral renal agenesis
    • POTTER EL: Bilateral renal agenesis. J Pediatr 29:68, 1946
    • (1946) J Pediatr , vol.29 , pp. 68
    • Potter, E.L.1
  • 2
    • 0031028983 scopus 로고    scopus 로고
    • Preauricular tags and pits in the newborn: The role of hearing tests
    • KUGELMAN A, HADAD B, Ben-DAVID J, et al: Preauricular tags and pits in the newborn: the role of hearing tests. Acta Paediatr 86:170-172, 1997
    • (1997) Acta Paediatr , vol.86 , pp. 170-172
    • Kugelman, A.1    Hadad, B.2    Ben-David, J.3
  • 3
    • 0023128657 scopus 로고
    • Hearing impairment in connection with preauricular tags
    • KANKKUNEN A, THIRINGER K: Hearing impairment in connection with preauricular tags. Acta Paediatr Scand 76:143-146, 1987
    • (1987) Acta Paediatr Scand , vol.76 , pp. 143-146
    • Kankkunen, A.1    Thiringer, K.2
  • 4
    • 0033744873 scopus 로고    scopus 로고
    • Evaluation of the prenatal diagnosis of limb reduction deficiencies
    • EUROSCAN Study Group
    • STOLL C, WIESEL A, QUEISSER-LUFT A, et al: Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group. Prenat Diagn 20:811-818, 2000
    • (2000) Prenat Diagn , vol.20 , pp. 811-818
    • Stoll, C.1    Wiesel, A.2    Queisser-Luft, A.3
  • 5
    • 17144461358 scopus 로고    scopus 로고
    • A prospective search for urinary tract abnormalities in infants with isolated preauricular tags
    • KOHELET D, ARBEL E: A prospective search for urinary tract abnormalities in infants with isolated preauricular tags. Pediatrics 105:E61, 2000
    • (2000) Pediatrics , vol.105
    • Kohelet, D.1    Arbel, E.2
  • 6
    • 0026644486 scopus 로고
    • Association of preauricular sinuses and renal anomalies
    • LEUNG AK, ROBSON WL: Association of preauricular sinuses and renal anomalies. Urology 40:259-261, 1992
    • (1992) Urology , vol.40 , pp. 259-261
    • Leung, A.K.1    Robson, W.L.2
  • 7
    • 1642544844 scopus 로고    scopus 로고
    • Association between renal malformations and abnormally formed ears: Analysis of 32,589 newborns and newborn fetuses of the Mainz Congenital Birth Defect Monitoring System
    • San Diego
    • QUEISSER-LUFT A, STOLZ G, WIESEL A, et al: Association between renal malformations and abnormally formed ears: Analysis of 32,589 newborns and newborn fetuses of the Mainz Congenital Birth Defect Monitoring System, in XXI David W Smith Workshop on Malformation and Morphogenesis, San Diego, 2000, pp 60
    • (2000) XXI David W Smith Workshop on Malformation and Morphogenesis , pp. 60
    • Queisser-Luft, A.1    Stolz, G.2    Wiesel, A.3
  • 8
    • 0031760440 scopus 로고    scopus 로고
    • Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome
    • KALATZIS V, SAHLY I, EL-AMRAOUI A, PETIT C: Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome. Dev Dyn 213:486-499, 1998
    • (1998) Dev Dyn , vol.213 , pp. 486-499
    • Kalatzis, V.1    Sahly, I.2    El-Amraoui, A.3    Petit, C.4
  • 9
    • 0033833143 scopus 로고    scopus 로고
    • Competence, specification and commitment in otic placode induction
    • GROVES AK, BRONNER-FRASER M: Competence, specification and commitment in otic placode induction. Development 127:3489-3499, 2000
    • (2000) Development , vol.127 , pp. 3489-3499
    • Groves, A.K.1    Bronner-Fraser, M.2
  • 10
    • 0345643314 scopus 로고    scopus 로고
    • Xenopus Pax-2/5/8 orthologues: Novel insights into Pax gene evolution and identification of Pax-8 as the earliest marker for otic and pronephric cell lineages
    • HELLER N, BRANDLI AW: Xenopus Pax-2/5/8 orthologues: novel insights into Pax gene evolution and identification of Pax-8 as the earliest marker for otic and pronephric cell lineages. Dev Genet 24:208-219, 1999
    • (1999) Dev Genet , vol.24 , pp. 208-219
    • Heller, N.1    Brandli, A.W.2
  • 11
    • 0031668375 scopus 로고    scopus 로고
    • Characterization of three novel members of the zebrafish Pax2/5/8 family: Dependency of Pax5 and Pax8 expression on the Pax2.1 (noi) function
    • PFEFFER PL, GERSTER T, LUN K, et al: Characterization of three novel members of the zebrafish Pax2/5/8 family: Dependency of Pax5 and Pax8 expression on the Pax2.1 (noi) function. Development 125:3063-3074, 1998
    • (1998) Development , vol.125 , pp. 3063-3074
    • Pfeffer, P.L.1    Gerster, T.2    Lun, K.3
  • 12
    • 0032825495 scopus 로고    scopus 로고
    • Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya
    • OHTO H, KAMADA S, TAGO K, et al: Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya. Mol Cell Biol 19:6815-6824, 1999
    • (1999) Mol Cell Biol , vol.19 , pp. 6815-6824
    • Ohto, H.1    Kamada, S.2    Tago, K.3
  • 13
    • 0033166975 scopus 로고    scopus 로고
    • cSix4, a member of the six gene family of transcription factors, is expressed during placode and somite development
    • ESTEVE P, BOVOLENTA P: cSix4, a member of the six gene family of transcription factors, is expressed during placode and somite development. Mech Dev 85:161-165, 1999
    • (1999) Mech Dev , vol.85 , pp. 161-165
    • Esteve, P.1    Bovolenta, P.2
  • 14
    • 0033376924 scopus 로고    scopus 로고
    • Structure and chromosome mapping of the human SIX4 and murine Six4 genes
    • OZAKI H, YAMADA K, KOBAYASHI M, et al: Structure and chromosome mapping of the human SIX4 and murine Six4 genes. Cytogenet Cell Genet 87:108-112, 1999
    • (1999) Cytogenet Cell Genet , vol.87 , pp. 108-112
    • Ozaki, H.1    Yamada, K.2    Kobayashi, M.3
  • 15
    • 0034333513 scopus 로고    scopus 로고
    • Expression of three zebrafish Six4 genes in the cranial sensory placodes and the developing somites
    • KOBAYASHI M, OSANAI H, KAWAKAMI K, YAMAMOTO M: Expression of three zebrafish Six4 genes in the cranial sensory placodes and the developing somites. Mech Dev 98:151-155, 2000
    • (2000) Mech Dev , vol.98 , pp. 151-155
    • Kobayashi, M.1    Osanai, H.2    Kawakami, K.3    Yamamoto, M.4
  • 16
    • 0035117263 scopus 로고    scopus 로고
    • Molecular cloning and embryonic expression of Xenopus Six homeobox genes
    • GHANBARI H, SEO HC, FJOSE A, BRANDLI AW: Molecular cloning and embryonic expression of Xenopus Six homeobox genes. Mech Dev 101:271-277, 2001
    • (2001) Mech Dev , vol.101 , pp. 271-277
    • Ghanbari, H.1    Seo, H.C.2    Fjose, A.3    Brandli, A.W.4
  • 17
    • 0032905164 scopus 로고    scopus 로고
    • EYA4, a novel vertebrate gene related to Drosophila eyes absent
    • BORSANI G, DEGRANDI A, BALLABIO A, et al: EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet 8:11-23, 1999
    • (1999) Hum Mol Genet , vol.8 , pp. 11-23
    • Borsani, G.1    DeGrandi, A.2    Ballabio, A.3
  • 18
    • 0035253743 scopus 로고    scopus 로고
    • Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
    • WAYNE S, ROBERTSON NG, DECLAU F, et al: Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 10:195-200, 2001
    • (2001) Hum Mol Genet , vol.10 , pp. 195-200
    • Wayne, S.1    Robertson, N.G.2    DeClau, F.3
  • 19
    • 0033573003 scopus 로고    scopus 로고
    • Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation
    • HEANUE TA, RESHEF R, DAVIS RJ, et al: Synergistic regulation of vertebrate muscle development by Dach2, Eya2, and Six1, homologs of genes required for Drosophila eye formation. Genes Dev 13:3231-3243, 1999
    • (1999) Genes Dev , vol.13 , pp. 3231-3243
    • Heanue, T.A.1    Reshef, R.2    Davis, R.J.3
  • 20
    • 0036303782 scopus 로고    scopus 로고
    • Coordinating early kidney development: Lessons from gene targeting
    • VAINIO S, LIN Y: Coordinating early kidney development: Lessons from gene targeting. Nat Rev Genet 3:533-543, 2002
    • (2002) Nat Rev Genet , vol.3 , pp. 533-543
    • Vainio, S.1    Lin, Y.2
  • 21
    • 0034957252 scopus 로고    scopus 로고
    • Fibroblast growth factor receptors and their ligands in the adult rat kidney
    • CANCILLA B, DAVIES A, CAUCHI JA, et al: Fibroblast growth factor receptors and their ligands in the adult rat kidney. Kidney Int 60:147-155, 2001
    • (2001) Kidney Int , vol.60 , pp. 147-155
    • Cancilla, B.1    Davies, A.2    Cauchi, J.A.3
  • 22
    • 0025938482 scopus 로고
    • The int-2 proto-oncogene is responsible for induction of the inner ear
    • REPRESA J, LEON Y, MINER C, GIRALDEZ F: The int-2 proto-oncogene is responsible for induction of the inner ear. Nature 353:561-563, 1991
    • (1991) Nature , vol.353 , pp. 561-563
    • Represa, J.1    Leon, Y.2    Miner, C.3    Giraldez, F.4
  • 23
    • 0027500633 scopus 로고
    • Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear
    • MANSOUR SL, GODDARD JM, CAPECCHI MR: Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear. Development 117:13-28, 1993
    • (1993) Development , vol.117 , pp. 13-28
    • Mansour, S.L.1    Goddard, J.M.2    Capecchi, M.R.3
  • 24
    • 20244366799 scopus 로고    scopus 로고
    • Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
    • DODE C, LEVILLIERS J, DUPONT JM, et al: Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33:463-465, 2003
    • (2003) Nat Genet , vol.33 , pp. 463-465
    • Dode, C.1    Levilliers, J.2    Dupont, J.M.3
  • 25
    • 0036356941 scopus 로고    scopus 로고
    • BMPs and BMP receptors in mouse metanephric development: In vivo and in vitro studies
    • MARTINEZ G, MISHINA Y, BERTRAM JF: BMPs and BMP receptors in mouse metanephric development: In vivo and in vitro studies. Int J Dev Biol 46:525-533, 2002
    • (2002) Int J Dev Biol , vol.46 , pp. 525-533
    • Martinez, G.1    Mishina, Y.2    Bertram, J.F.3
  • 26
    • 0343114431 scopus 로고    scopus 로고
    • BMP-4 affects the differentiation of metanephric mesenchyme and reveals an early anterior-posterior axis of the embryonic kidney
    • RAATIKAINEN-AHOKAS A, HYTONEN M, TENHUNEN A, et al: BMP-4 affects the differentiation of metanephric mesenchyme and reveals an early anterior-posterior axis of the embryonic kidney. Dev Dyn 217:146-158, 2000
    • (2000) Dev Dyn , vol.217 , pp. 146-158
    • Raatikainen-Ahokas, A.1    Hytonen, M.2    Tenhunen, A.3
  • 27
    • 0036436686 scopus 로고    scopus 로고
    • BMP pathways are involved in otic capsule formation and epithelial-mesenchymal signaling in the developing chicken inner ear
    • CHANG W, TEN DIJKE P, WU DK: BMP pathways are involved in otic capsule formation and epithelial-mesenchymal signaling in the developing chicken inner ear. Dev Biol 251:380-394, 2002
    • (2002) Dev Biol , vol.251 , pp. 380-394
    • Chang, W.1    Ten Dijke, P.2    Wu, D.K.3
  • 28
    • 0036061384 scopus 로고    scopus 로고
    • Essential function of Wnt-4 for tubulogenesis in the Xenopus pronephric kidney
    • SAULNIER DM, GHANBARI H, BRANDLI AW: Essential function of Wnt-4 for tubulogenesis in the Xenopus pronephric kidney. Dev Biol 248:13-28, 2002
    • (2002) Dev Biol , vol.248 , pp. 13-28
    • Saulnier, D.M.1    Ghanbari, H.2    Brandli, A.W.3
  • 30
    • 0031881616 scopus 로고    scopus 로고
    • Expression of Xfz3, a Xenopus frizzled family member, is restricted to the early nervous system
    • SHI DL, GOISSET C, BOUCAUT JC: Expression of Xfz3, a Xenopus frizzled family member, is restricted to the early nervous system. Mech Dev 70:35-47, 1998
    • (1998) Mech Dev , vol.70 , pp. 35-47
    • Shi, D.L.1    Goisset, C.2    Boucaut, J.C.3
  • 31
    • 0032869410 scopus 로고    scopus 로고
    • Xenopus frizzled-2 is expressed highly in the developing eye, otic vesicle and somites
    • DEARDORFF MA, KLEIN PS: Xenopus frizzled-2 is expressed highly in the developing eye, otic vesicle and somites. Mech Dev 87:229-233, 1999
    • (1999) Mech Dev , vol.87 , pp. 229-233
    • Deardorff, M.A.1    Klein, P.S.2
  • 32
    • 0033994646 scopus 로고    scopus 로고
    • Differential expression of the Groucho-related genes 4 and 5 during early development of Xenopus laevis
    • MOLENAAR M, BRIAN E, ROOSE J, et al: Differential expression of the Groucho-related genes 4 and 5 during early development of Xenopus laevis. Mech Dev 91:311-315, 2000
    • (2000) Mech Dev , vol.91 , pp. 311-315
    • Molenaar, M.1    Brian, E.2    Roose, J.3
  • 33
    • 0034333471 scopus 로고    scopus 로고
    • Frizzled-4 expression during chick kidney development
    • STARK MR, RAO MS, SCHOENWOLF GC, et al: Frizzled-4 expression during chick kidney development. Mech Dev 98:121-125, 2000
    • (2000) Mech Dev , vol.98 , pp. 121-125
    • Stark, M.R.1    Rao, M.S.2    Schoenwolf, G.C.3
  • 34
    • 0037200803 scopus 로고    scopus 로고
    • Expression of members of Wnt and Frizzled gene families in the postnatal rat cochlea
    • DAUDET N, RIPOLL C, MOLES JP, REBILLARD G: Expression of members of Wnt and Frizzled gene families in the postnatal rat cochlea. Brain Res Mol Brain Res 105:98-107, 2002
    • (2002) Brain Res Mol Brain Res , vol.105 , pp. 98-107
    • Daudet, N.1    Ripoll, C.2    Moles, J.P.3    Rebillard, G.4
  • 35
    • 0034721115 scopus 로고    scopus 로고
    • GATA3 haplo-insufficiency causes human HDR syndrome
    • VAN ESCH H, GROENEN P, NESBIT MA, et al: GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406:419-422, 2000
    • (2000) Nature , vol.406 , pp. 419-422
    • Van Esch, H.1    Groenen, P.2    Nesbit, M.A.3
  • 36
    • 0032423116 scopus 로고    scopus 로고
    • GATA3 is downregulated during hair cell differentiation in the mouse cochlea
    • RIVOLTA MN, HOLLEY MC: GATA3 is downregulated during hair cell differentiation in the mouse cochlea. J Neurocytol 27:637-647, 1998
    • (1998) J Neurocytol , vol.27 , pp. 637-647
    • Rivolta, M.N.1    Holley, M.C.2
  • 37
    • 0035931676 scopus 로고    scopus 로고
    • Transcription factor GATA-3 alters pathway selection of olivocochlear neurons and affects morphogenesis of the ear
    • KARIS A, PATA I, VAN DOORNINCK JH, et al: Transcription factor GATA-3 alters pathway selection of olivocochlear neurons and affects morphogenesis of the ear. J Comp Neurol 429:615-630, 2001
    • (2001) J Comp Neurol , vol.429 , pp. 615-630
    • Karis, A.1    Pata, I.2    Van Doorninck, J.H.3
  • 38
    • 0037147757 scopus 로고    scopus 로고
    • Expression of the transcription factors GATA3 and Pax2 during development of the mammalian inner ear
    • LAWOKO-KERALI G, RIVOLTA MN, HOLLEY M: Expression of the transcription factors GATA3 and Pax2 during development of the mammalian inner ear. J Comp Neurol 442:378-391, 2002
    • (2002) J Comp Neurol , vol.442 , pp. 378-391
    • Lawoko-Kerali, G.1    Rivolta, M.N.2    Holley, M.3
  • 39
    • 0030614865 scopus 로고    scopus 로고
    • Integrin alpha-8/beta-1 is critically important for epithelial- mesenchymal interactions during kidney morphogenesis
    • MULLER U, WANG D, DENDA S, et al: Integrin alpha-8/beta-1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. Cell 88:603-613, 1997
    • (1997) Cell , vol.88 , pp. 603-613
    • Muller, U.1    Wang, D.2    Denda, S.3
  • 40
    • 0343673941 scopus 로고    scopus 로고
    • Stereocilia defects in the sensory hair cells of the inner ear in mice deficient in integrin alpha-8/beta-1
    • EVANS AL, MULLER U: Stereocilia defects in the sensory hair cells of the inner ear in mice deficient in integrin alpha-8/beta-1. Nat Genet 24:424-428, 2000
    • (2000) Nat Genet , vol.24 , pp. 424-428
    • Evans, A.L.1    Muller, U.2
  • 41
    • 0031740943 scopus 로고    scopus 로고
    • The winged helix transcription factor Fkh10 is required for normal development of the inner ear
    • HULANDER M, WURST W, CARLSSON P, ENERBACK S: The winged helix transcription factor Fkh10 is required for normal development of the inner ear. Nat Genet 20:374-376, 1998
    • (1998) Nat Genet , vol.20 , pp. 374-376
    • Hulander, M.1    Wurst, W.2    Carlsson, P.3    Enerback, S.4
  • 42
    • 0036125836 scopus 로고    scopus 로고
    • Differences in endolymphatic sac mitochondria-rich cells indicate specific functions
    • PETERS TA, TONNAER EL, KUIJPERS W, et al: Differences in endolymphatic sac mitochondria-rich cells indicate specific functions. Laryngoscope 112:534-541, 2002
    • (2002) Laryngoscope , vol.112 , pp. 534-541
    • Peters, T.A.1    Tonnaer, E.L.2    Kuijpers, W.3
  • 43
    • 0036089231 scopus 로고    scopus 로고
    • Cellular distribution of parchorin, a chloride intracellular channel-related protein, in various tissues
    • MIZUKAWA Y, NISHIZAVVA T, NAGAO T, et al: Cellular distribution of parchorin, a chloride intracellular channel-related protein, in various tissues. Am J Physiol Cell Physiol 282: C786-C795, 2002
    • (2002) Am J Physiol Cell Physiol , vol.282
    • Mizukawa, Y.1    Nishizavva, T.2    Nagao, T.3
  • 44
    • 0036201664 scopus 로고    scopus 로고
    • Prestin, the motor protein of outer hair cells
    • ZHENG J, MADISON LD, OLIVER D, et al: Prestin, the motor protein of outer hair cells. Audiol Neurootol 7:9-12, 2002
    • (2002) Audiol Neurootol , vol.7 , pp. 9-12
    • Zheng, J.1    Madison, L.D.2    Oliver, D.3
  • 47
    • 0019165942 scopus 로고
    • Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss
    • FRASER FC, SPROULE JR, HALAL F: Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 7:341-349, 1980
    • (1980) Am J Med Genet , vol.7 , pp. 341-349
    • Fraser, F.C.1    Sproule, J.R.2    Halal, F.3
  • 48
    • 0018254276 scopus 로고
    • Genetic aspects of the BOR syndrome - Brachial fistulas, ear pits, hearing loss, and renal anomalies
    • FRASER FC, LING D, CLOGG D, NOGRADY B: Genetic aspects of the BOR syndrome - Brachial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet 2:241-252, 1978
    • (1978) Am J Med Genet , vol.2 , pp. 241-252
    • Fraser, F.C.1    Ling, D.2    Clogg, D.3    Nogrady, B.4
  • 49
    • 0017852237 scopus 로고
    • Branchio-oto-renal dysplasia and branchio-oto dysplasia: Two distinct autosomal dominant disorders
    • MELNICK M, HODES ME, NANCE WE, et al: Branchio-oto-renal dysplasia and branchio-oto dysplasia: Two distinct autosomal dominant disorders. Clin Genet 13:425-442, 1978
    • (1978) Clin Genet , vol.13 , pp. 425-442
    • Melnick, M.1    Hodes, M.E.2    Nance, W.E.3
  • 51
    • 0022461894 scopus 로고
    • Branchio-oto-renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred
    • HEIMLER A, LIEBER E: Branchio-oto-renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred. Am J Med Genet 25:15-27, 1986
    • (1986) Am J Med Genet , vol.25 , pp. 15-27
    • Heimler, A.1    Lieber, E.2
  • 52
    • 0022530976 scopus 로고
    • Branchio-oto-renal dysplasia in three families
    • GIMSING S, DYRMOSE J: Branchio-oto-renal dysplasia in three families. Ann Otol Rhinol Laryngol 95:421-426, 1986
    • (1986) Ann Otol Rhinol Laryngol , vol.95 , pp. 421-426
    • Gimsing, S.1    Dyrmose, J.2
  • 53
    • 0025907819 scopus 로고
    • Temporal bone findings in a family with branchio-oto-renal syndrome (BOR)
    • OSTRI B, JOHNSEN T, BERGMANN I: Temporal bone findings in a family with branchio-oto-renal syndrome (BOR). Clin Otolaryngol 16:163-167, 1991
    • (1991) Clin Otolaryngol , vol.16 , pp. 163-167
    • Ostri, B.1    Johnsen, T.2    Bergmann, I.3
  • 54
    • 0028356339 scopus 로고
    • Branchio-oto-renal (BOR) syndrome: Variable expressivity in a five-generation pedigree
    • KONIG R, FUCHS S, DUKIET C: Branchio-oto-renal (BOR) syndrome: Variable expressivity in a five-generation pedigree. Eur J Pediatr 153:446-450, 1994
    • (1994) Eur J Pediatr , vol.153 , pp. 446-450
    • Konig, R.1    Fuchs, S.2    Dukiet, C.3
  • 55
  • 56
    • 0020538998 scopus 로고
    • The branchio-oto-renal (BOR) syndrome: Report of bilateral renal agenesis in three sibs
    • CARMI R, BINSHTOCK M, ABELIOVICH D, BAR-ZIV J: The branchio-oto-renal (BOR) syndrome: Report of bilateral renal agenesis in three sibs. Am J Med Genet 14:625-627, 1983
    • (1983) Am J Med Genet , vol.14 , pp. 625-627
    • Carmi, R.1    Binshtock, M.2    Abeliovich, D.3    Bar-Ziv, J.4
  • 57
    • 0028990685 scopus 로고
    • Phenotypic manifestations of branchio-oto-renal syndrome
    • CHEN A, FRANCIS M, NI L, et al: Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 58:365-370, 1995
    • (1995) Am J Med Genet , vol.58 , pp. 365-370
    • Chen, A.1    Francis, M.2    Ni, L.3
  • 58
    • 0032695767 scopus 로고    scopus 로고
    • New manifestations of BOR syndrome
    • WEBER KM, KOUSSEFF BG: New manifestations of BOR syndrome. Clin Genet 56:306-312, 1999
    • (1999) Clin Genet , vol.56 , pp. 306-312
    • Weber, K.M.1    Kousseff, B.G.2
  • 59
    • 0033942027 scopus 로고    scopus 로고
    • Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: Clinical and genetic implications
    • KUMAR S, DEFFENBACHER K, MARRES HA, et al: Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: Clinical and genetic implications. Am J Hum Genet 66:1715-1720, 2000
    • (2000) Am J Hum Genet , vol.66 , pp. 1715-1720
    • Kumar, S.1    Deffenbacher, K.2    Marres, H.A.3
  • 60
    • 0026941761 scopus 로고
    • Autosomal dominant branchio-oto-renal syndrome - Localization of a disease gene to chromosome 8q by linkage in a Dutch family
    • KUMAR S, KIMBERLING WJ, KENYON JB, et al: Autosomal dominant branchio-oto-renal syndrome - Localization of a disease gene to chromosome 8q by linkage in a Dutch family. Hum Mol Genet 1:491-495, 1992
    • (1992) Hum Mol Genet , vol.1 , pp. 491-495
    • Kumar, S.1    Kimberling, W.J.2    Kenyon, J.B.3
  • 61
    • 0030026159 scopus 로고    scopus 로고
    • Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q
    • KUMAR S, KIMBERLING WJ, LANYI A, et al: Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q. Genomics 31:71-79, 1996
    • (1996) Genomics , vol.31 , pp. 71-79
    • Kumar, S.1    Kimberling, W.J.2    Lanyi, A.3
  • 62
    • 0031046284 scopus 로고    scopus 로고
    • A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
    • ABDELHAK S, KALATZIS V, HEILIG R, et al: A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15:157-164, 1997
    • (1997) Nat Genet , vol.15 , pp. 157-164
    • Abdelhak, S.1    Kalatzis, V.2    Heilig, R.3
  • 63
    • 9844262802 scopus 로고    scopus 로고
    • Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
    • ABDELHAK S, KALATZIS V, HEILIG R, et al: Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 6:2247-2255, 1997
    • (1997) Hum Mol Genet , vol.6 , pp. 2247-2255
    • Abdelhak, S.1    Kalatzis, V.2    Heilig, R.3
  • 64
    • 0032513573 scopus 로고    scopus 로고
    • Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13
    • KUMAR S, MARRES HA, CREMERS CW, KIMBERLING WJ: Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. Am J Med Genet 76:395-401, 1998
    • (1998) Am J Med Genet , vol.76 , pp. 395-401
    • Kumar, S.1    Marres, H.A.2    Cremers, C.W.3    Kimberling, W.J.4
  • 65
    • 0030657802 scopus 로고    scopus 로고
    • BOR and BO syndromes are allelic defects of EYA1
    • VINCENT C, KALATZIS V, ABDELHAK S, et al: BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet 5:242-246, 1997
    • (1997) Eur J Hum Genet , vol.5 , pp. 242-246
    • Vincent, C.1    Kalatzis, V.2    Abdelhak, S.3
  • 66
    • 0032842838 scopus 로고    scopus 로고
    • Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
    • XU PX, ADAMS J, PETERS H, et al: Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 23:113-117, 1999
    • (1999) Nat Genet , vol.23 , pp. 113-117
    • Xu, P.X.1    Adams, J.2    Peters, H.3
  • 67
    • 0027182741 scopus 로고
    • WT-1 is required for early kidney development
    • KREIDBERG JA, SARIOLA H, LORING JM, et al: WT-1 is required for early kidney development. Cell 74:679-691, 1993
    • (1993) Cell , vol.74 , pp. 679-691
    • Kreidberg, J.A.1    Sariola, H.2    Loring, J.M.3
  • 68
    • 15844422453 scopus 로고    scopus 로고
    • GDNF signalling through the Ret receptor tyrosine kinase
    • DURBEC P, Marcos-GUTIERREZ CV, KILKENNY C, et al: GDNF signalling through the Ret receptor tyrosine kinase. Nature 381:789-793, 1996
    • (1996) Nature , vol.381 , pp. 789-793
    • Durbec, P.1    Marcos-Gutierrez, C.V.2    Kilkenny, C.3
  • 69
    • 0141453966 scopus 로고    scopus 로고
    • Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins
    • SANICOLA M, HESSION C, WORLEY D, et al: Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. Proc Natl Acad Sci USA 94:6238-6243, 1997
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 6238-6243
    • Sanicola, M.1    Hession, C.2    Worley, D.3
  • 70
    • 15844406351 scopus 로고    scopus 로고
    • Functional receptor for GDNF encoded by the c-ret proto-oncogene
    • TRUPP M, ARENAS E, FAINZILBER M, et al: Functional receptor for GDNF encoded by the c-ret proto-oncogene. Nature 381:785-789, 1996
    • (1996) Nature , vol.381 , pp. 785-789
    • Trupp, M.1    Arenas, E.2    Fainzilber, M.3
  • 71
    • 0027374562 scopus 로고
    • Expression of the c-ret proto-oncogene during mouse embryogenesis
    • PACHNIS V, MANKOO B, COSTANTINI F: Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119:1005-1017, 1993
    • (1993) Development , vol.119 , pp. 1005-1017
    • Pachnis, V.1    Mankoo, B.2    Costantini, F.3
  • 72
    • 0028174023 scopus 로고
    • Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
    • SCHUCHARDT A, D'AGATI V, LARSSON-BLOMBERG L, et al: Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367:380-383, 1994
    • (1994) Nature , vol.367 , pp. 380-383
    • Schuchardt, A.1    D'Agati, V.2    Larsson-Blomberg, L.3
  • 73
    • 0032905164 scopus 로고    scopus 로고
    • EYA4, a novel vertebrate gene related to Drosophila eyes absent
    • BORSANI G, DEGRANDI A, BALLABIO A, et al: EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet 8:11-23, 1999
    • (1999) Hum Mol Genet , vol.8 , pp. 11-23
    • Borsani, G.1    DeGrandi, A.2    Ballabio, A.3
  • 74
    • 0035253743 scopus 로고    scopus 로고
    • Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
    • WAYNE S, ROBERTSON NG, DECLAU F, et al: Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 10:195-200, 2001
    • (2001) Hum Mol Genet , vol.10 , pp. 195-200
    • Wayne, S.1    Robertson, N.G.2    DeClau, F.3
  • 75
    • 0015383189 scopus 로고    scopus 로고
    • Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies
    • TOWNES PL, BROCKS ER: Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 81:321-326, 2000
    • (2000) J Pediatr , vol.81 , pp. 321-326
    • Townes, P.L.1    Brocks, E.R.2
  • 77
    • 0018139070 scopus 로고
    • Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations
    • KURNIT DM, STEELE MW, PINSKY L, DIBBINS A: Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. J Pediatr 93:270-273, 1978
    • (1978) J Pediatr , vol.93 , pp. 270-273
    • Kurnit, D.M.1    Steele, M.W.2    Pinsky, L.3    Dibbins, A.4
  • 79
    • 0030579606 scopus 로고    scopus 로고
    • Townes-Brocks syndrome associated with mental retardation
    • ISHIKIRIYAMA S, KUDOH F, SHIMOJO N, et al: Townes-Brocks syndrome associated with mental retardation. Am J Med Genet 61:191-192, 1996
    • (1996) Am J Med Genet , vol.61 , pp. 191-192
    • Ishikiriyama, S.1    Kudoh, F.2    Shimojo, N.3
  • 80
    • 0035882521 scopus 로고    scopus 로고
    • Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects
    • SURKA WS, KOHLHASE J, NEUNERT CE, et al: Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. Am J Med Genet 102:250-257, 2001
    • (2001) Am J Med Genet , vol.102 , pp. 250-257
    • Surka, W.S.1    Kohlhase, J.2    Neunert, C.E.3
  • 82
    • 0024400301 scopus 로고
    • Townes-Brocks syndrome. Report of a case and review of the literature
    • FERRAZ FG, NUNES L, FERRAZ ME, et al: Townes-Brocks syndrome. Report of a case and review of the literature. Ann Genet 32:120-123, 1989
    • (1989) Ann Genet , vol.32 , pp. 120-123
    • Ferraz, F.G.1    Nunes, L.2    Ferraz, M.E.3
  • 83
    • 0033404687 scopus 로고    scopus 로고
    • Two cases of Townes-Brocks syndrome
    • DORAY B, LANGER B, STOLL C: Two cases of Townes-Brocks syndrome. Genet Couns 10:359-367, 1999
    • (1999) Genet Couns , vol.10 , pp. 359-367
    • Doray, B.1    Langer, B.2    Stoll, C.3
  • 85
    • 0031034967 scopus 로고    scopus 로고
    • Townes-Brocks syndrome presenting as end stage renal failure
    • NEWMAN WG, BRUNET MD, DONNAI D: Townes-Brocks syndrome presenting as end stage renal failure. Clin Dysmorphol 6:57-60, 1997
    • (1997) Clin Dysmorphol , vol.6 , pp. 57-60
    • Newman, W.G.1    Brunet, M.D.2    Donnai, D.3
  • 86
    • 0031963876 scopus 로고    scopus 로고
    • Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
    • KOHLHASE J, WISCHERMANN A, REICHENBACH H, et al: Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 18:81-83, 1998
    • (1998) Nat Genet , vol.18 , pp. 81-83
    • Kohlhase, J.1    Wischermann, A.2    Reichenbach, H.3
  • 87
    • 0036848353 scopus 로고    scopus 로고
    • Okihiro syndrome is caused by SALL4 mutations
    • KOHLHASE J, HEINRICH M, SCHUBERT L, et al: Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 11:2979-2987, 2002
    • (2002) Hum Mol Genet , vol.11 , pp. 2979-2987
    • Kohlhase, J.1    Heinrich, M.2    Schubert, L.3
  • 88
    • 0032953341 scopus 로고    scopus 로고
    • Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: Implications for the developmental anomalies of X chromosome-linked Kallmann syndrome
    • HARDELIN JP, JULLIARD AK, MONIOT B, et al: Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: Implications for the developmental anomalies of X chromosome-linked Kallmann syndrome. Dev Dyn 215:26-44, 1999
    • (1999) Dev Dyn , vol.215 , pp. 26-44
    • Hardelin, J.P.1    Julliard, A.K.2    Moniot, B.3
  • 89
    • 70350573860 scopus 로고
    • Etudes sur les dysraphies cranio-encephaliques
    • DE MORSIER G: Etudes sur les dysraphies cranio-encephaliques. Schweiz Arch Neurol Psychiatr 74:309-361, 1954
    • (1954) Schweiz Arch Neurol Psychiatr , vol.74 , pp. 309-361
    • De Morsier, G.1
  • 90
    • 0027419103 scopus 로고
    • Xp22.3 deletions in isolated familial Kallmann's syndrome
    • HARDELIN JP, LEVILLIERS J, YOUNG J, et al: Xp22.3 deletions in isolated familial Kallmann's syndrome. J Clin Endocrinol Metab 76:827-831, 1993
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 827-831
    • Hardelin, J.P.1    Levilliers, J.2    Young, J.3
  • 91
    • 0027477310 scopus 로고
    • Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
    • HARDELIN JP, LEVILLIERS J, BLANCHARD S, et al: Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet 2:373-377, 1993
    • (1993) Hum Mol Genet , vol.2 , pp. 373-377
    • Hardelin, J.P.1    Levilliers, J.2    Blanchard, S.3
  • 92
    • 0019932123 scopus 로고
    • Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): Clinical and laboratory studies in 23 cases
    • LIEBLICH JM, ROGOL AD, WHITE BJ, ROSEN SW: Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): Clinical and laboratory studies in 23 cases. Am J Med 73:506-519, 1982
    • (1982) Am J Med , vol.73 , pp. 506-519
    • Lieblich, J.M.1    Rogol, A.D.2    White, B.J.3    Rosen, S.W.4
  • 93
    • 0036159074 scopus 로고    scopus 로고
    • Conductive hearing loss associated with Kallmann's syndrome
    • COATESWORTH AP, WOODHEAD CJ: Conductive hearing loss associated with Kallmann's syndrome. J Laryngol Otol 116:125-126, 2002
    • (2002) J Laryngol Otol , vol.116 , pp. 125-126
    • Coatesworth, A.P.1    Woodhead, C.J.2
  • 94
  • 95
    • 0035189356 scopus 로고    scopus 로고
    • Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
    • BIRKENHAGER R, OTTO E, SCHURMANN MJ, et al: Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310-314, 2001
    • (2001) Nat Genet , vol.29 , pp. 310-314
    • Birkenhager, R.1    Otto, E.2    Schurmann, M.J.3
  • 96
    • 0030068024 scopus 로고    scopus 로고
    • Molecular genetics of human blood pressure variation
    • LIFTON RP: Molecular genetics of human blood pressure variation. Science 272:676-680, 1996
    • (1996) Science , vol.272 , pp. 676-680
    • Lifton, R.P.1
  • 97
    • 0028832124 scopus 로고
    • Localization and functional characterization of rat kidney-specific chloride channel, ClC-K1
    • UCHIDA S, SASAKI S, NITTA K, et al: Localization and functional characterization of rat kidney-specific chloride channel, ClC-K1. J Clin Invest 95:104-113, 1995
    • (1995) J Clin Invest , vol.95 , pp. 104-113
    • Uchida, S.1    Sasaki, S.2    Nitta, K.3
  • 98
    • 0034920817 scopus 로고    scopus 로고
    • Intrarenal and cellular localization of CLC-K2 protein in the mouse kidney
    • KOBAYASHI K, UCHIDA S, MIZUTANI S, et al: Intrarenal and cellular localization of CLC-K2 protein in the mouse kidney. J Am Soc Nephrol 12:1327-1334, 2001
    • (2001) J Am Soc Nephrol , vol.12 , pp. 1327-1334
    • Kobayashi, K.1    Uchida, S.2    Mizutani, S.3
  • 99
    • 16944366243 scopus 로고    scopus 로고
    • Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
    • SIMON DB, BINDRA RS, MANSFIELD TA, et al: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17:171-178, 1997
    • (1997) Nat Genet , vol.17 , pp. 171-178
    • Simon, D.B.1    Bindra, R.S.2    Mansfield, T.A.3
  • 100
    • 0030851745 scopus 로고    scopus 로고
    • Localization and induction by dehydration of ClC-K chloride channels in the rat kidney
    • VANDEWALLE A, CLUZEAUD F, BENS M, et al: Localization and induction by dehydration of ClC-K chloride channels in the rat kidney. Am J Physiol 272:F678-F688, 1997
    • (1997) Am J Physiol , vol.272
    • Vandewalle, A.1    Cluzeaud, F.2    Bens, M.3
  • 101
    • 0032947011 scopus 로고    scopus 로고
    • Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel
    • MATSUMURA Y, UCHIDA S, KONDO Y, et al: Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel. Nat Genet 21:95-98, 1999
    • (1999) Nat Genet , vol.21 , pp. 95-98
    • Matsumura, Y.1    Uchida, S.2    Kondo, Y.3
  • 102
    • 0031937693 scopus 로고    scopus 로고
    • Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p
    • BRENNAN TM, LANDAU D, SHALEV H, et al: Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet 62:355-361, 1998
    • (1998) Am J Hum Genet , vol.62 , pp. 355-361
    • Brennan, T.M.1    Landau, D.2    Shalev, H.3
  • 103
    • 0035408815 scopus 로고    scopus 로고
    • Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness
    • JECK N, REINALTER SC, HENNE T, et al: Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 108:E5, 2001
    • (2001) Pediatrics , vol.108
    • Jeck, N.1    Reinalter, S.C.2    Henne, T.3
  • 104
    • 9044235777 scopus 로고    scopus 로고
    • Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
    • SIMON DB, NELSON-WILLIAMS C, et al: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12:24-30, 1996
    • (1996) Nat Genet , vol.12 , pp. 24-30
    • Simon, D.B.1    Nelson-Williams, C.2
  • 105
    • 0042787780 scopus 로고    scopus 로고
    • Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis
    • RUF R, RENSING C, TOPALOGLU R, et al: Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol 18:105-109, 2003
    • (2003) Pediatr Nephrol , vol.18 , pp. 105-109
    • Ruf, R.1    Rensing, C.2    Topaloglu, R.3
  • 106
    • 0032943534 scopus 로고    scopus 로고
    • Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness
    • KARET FE, FINBERG KE, NELSON RD, et al: Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21:84-90, 1999
    • (1999) Nat Genet , vol.21 , pp. 84-90
    • Karet, F.E.1    Finberg, K.E.2    Nelson, R.D.3
  • 107
    • 0033812944 scopus 로고    scopus 로고
    • Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
    • SMITH AN, SKAUG J, CHOATE KA, et al: Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 26:71-75, 2000
    • (2000) Nat Genet , vol.26 , pp. 71-75
    • Smith, A.N.1    Skaug, J.2    Choate, K.A.3
  • 108
    • 0343635917 scopus 로고
    • The Gy mutation: Another cause of X-linked hypophosphatemia in mouse
    • LYON MF, SCRIVE, CR, BAKER LRI, et al: The Gy mutation: Another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci 83:4899-4903, 1986
    • (1986) Proc Natl Acad Sci , vol.83 , pp. 4899-4903
    • Lyon, M.F.1    Scrive, C.R.2    Baker, L.R.I.3
  • 109
    • 0021341344 scopus 로고
    • Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia
    • DAVIES M, KANE R, VALENTINE J: Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia. Ann Intern Med 100:230-232, 1984
    • (1984) Ann Intern Med , vol.100 , pp. 230-232
    • Davies, M.1    Kane, R.2    Valentine, J.3
  • 110
    • 0021798298 scopus 로고
    • Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia
    • O'MALLEY S, RAMSDEN RT, LATIF A, et al: Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia. Acta Otolaryng 100:13-18, 1985
    • (1985) Acta Otolaryng , vol.100 , pp. 13-18
    • O'Malley, S.1    Ramsden, R.T.2    Latif, A.3
  • 111
    • 0017646613 scopus 로고
    • Sensorineural deafness associated with recessive hypophosphataemic rickets
    • WEIR N: Sensorineural deafness associated with recessive hypophosphataemic rickets. J Laryng Otol 91:717-722, 1977
    • (1977) J Laryng Otol , vol.91 , pp. 717-722
    • Weir, N.1
  • 112
    • 13344286321 scopus 로고    scopus 로고
    • A common molecular basis for three inherited kidney stone diseases
    • LLOYD SE, PEARCE SHS, FISHER SE, et al: A common molecular basis for three inherited kidney stone diseases. Nature 370:445-449, 1996
    • (1996) Nature , vol.370 , pp. 445-449
    • Lloyd, S.E.1    Pearce, S.H.S.2    Fisher, S.E.3
  • 113
    • 0030615069 scopus 로고    scopus 로고
    • Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia
    • STROM TM, FRANCIS F, LORENZ B, et al: Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet 6:165-171, 1997
    • (1997) Hum Mol Genet , vol.6 , pp. 165-171
    • Strom, T.M.1    Francis, F.2    Lorenz, B.3
  • 114
    • 0026574166 scopus 로고
    • The molecular genetics of Alport syndrome: Report of two workshops
    • FLINTER F, BOBROW M: The molecular genetics of Alport syndrome: Report of two workshops. J Med Genet 29:352-353, 1992
    • (1992) J Med Genet , vol.29 , pp. 352-353
    • Flinter, F.1    Bobrow, M.2
  • 115
    • 0029689427 scopus 로고    scopus 로고
    • Alport syndrome-clinical phenotypes, incidence, and pathology
    • GREGORY MC, TERREROS DA, BARKER DF, et al: Alport syndrome-clinical phenotypes, incidence, and pathology. Contrib Nephrol 117:1-28, 1996
    • (1996) Contrib Nephrol , vol.117 , pp. 1-28
    • Gregory, M.C.1    Terreros, D.A.2    Barker, D.F.3
  • 116
    • 84965236793 scopus 로고
    • Hereditary familial congenital haemorrhagic nephritis
    • ALPORT AC: Hereditary familial congenital haemorrhagic nephritis. Br Med J 1:504-506, 1927
    • (1927) Br Med J , vol.1 , pp. 504-506
    • Alport, A.C.1
  • 117
    • 0025292712 scopus 로고
    • Identification of mutations in the COL4A5 collagen gene in Alport syndrome
    • BARKER DF, HOSTIKKA SL, ZHOU J, et al: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224-1227, 1990
    • (1990) Science , vol.248 , pp. 1224-1227
    • Barker, D.F.1    Hostikka, S.L.2    Zhou, J.3
  • 118
    • 0028168648 scopus 로고
    • Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome
    • MOCHIZUKI T, LEMMINK HH, MARIYAMA M, et al: Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77-81, 1994
    • (1994) Nat Genet , vol.8 , pp. 77-81
    • Mochizuki, T.1    Lemmink, H.H.2    Mariyama, M.3
  • 119
    • 0026740928 scopus 로고
    • Distribution of the alpha 1 and alpha 2 chains of collagen IV and of collagens V and VI in Alport syndrome
    • KASHTAN CE, KIM Y: Distribution of the alpha 1 and alpha 2 chains of collagen IV and of collagens V and VI in Alport syndrome. Kidney Int 42:115-126, 1994
    • (1994) Kidney Int , vol.42 , pp. 115-126
    • Kashtan, C.E.1    Kim, Y.2
  • 120
    • 0028939722 scopus 로고
    • Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution
    • GUBLER MC, KNEBELMANN B, BEZIAU A, et al: Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution. Kidney Int 47:1142-1147, 1995
    • (1995) Kidney Int , vol.47 , pp. 1142-1147
    • Gubler, M.C.1    Knebelmann, B.2    Beziau, A.3
  • 121
    • 0031747294 scopus 로고    scopus 로고
    • Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations
    • MAZZUCCO G, BARSOTTI P, MUDA AO, et al: Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol 9:1023-31, 1998
    • (1998) J Am Soc Nephrol , vol.9 , pp. 1023-1031
    • Mazzucco, G.1    Barsotti, P.2    Muda, A.O.3
  • 122
    • 0034847970 scopus 로고    scopus 로고
    • The inner ear of dogs with X-linked nephritis provides clues to the pathogenesis of hearing loss in X-linked Alport syndrome
    • HARVEY SJ, MOUNT R, SADO Y, et al: The inner ear of dogs with X-linked nephritis provides clues to the pathogenesis of hearing loss in X-linked Alport syndrome. Am J Pathol 159:1097-1104, 2001
    • (2001) Am J Pathol , vol.159 , pp. 1097-1104
    • Harvey, S.J.1    Mount, R.2    Sado, Y.3
  • 123
    • 0030789006 scopus 로고    scopus 로고
    • Autosomal dominant Alport syndrome linked to the type IV collagen alpha-3 and alpha-4 genes (COL4A3 and COL4A4)
    • JEFFERSON JA, LEMMINK HH, HUGHES AE, et al: Autosomal dominant Alport syndrome linked to the type IV collagen alpha-3 and alpha-4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant 12:1595-1599, 1997
    • (1997) Nephrol Dial Transplant , vol.12 , pp. 1595-1599
    • Jefferson, J.A.1    Lemmink, H.H.2    Hughes, A.E.3
  • 124
    • 0033746069 scopus 로고    scopus 로고
    • Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation
    • VAN DER LOOP FT, HEIDET L, TIMMER ED, et al: Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int 58:1870-1875, 2000
    • (2000) Kidney Int , vol.58 , pp. 1870-1875
    • Van Der Loop, F.T.1    Heidet, L.2    Timmer, E.D.3
  • 125
    • 0021956321 scopus 로고
    • Fechtner syndrome - A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia
    • PETERSON LC, RAO KV, CROSSON JT, WHITE JG: Fechtner syndrome - A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 65:397-406, 1985
    • (1985) Blood , vol.65 , pp. 397-406
    • Peterson, L.C.1    Rao, K.V.2    Crosson, J.T.3    White, J.G.4
  • 126
    • 0037225967 scopus 로고    scopus 로고
    • Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)
    • GHIGGERI GM, CARIDI G, MAGRINI U, et al: Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis 41:95-104, 2003
    • (2003) Am J Kidney Dis , vol.41 , pp. 95-104
    • Ghiggeri, G.M.1    Caridi, G.2    Magrini, U.3
  • 127
    • 0033839932 scopus 로고    scopus 로고
    • Fechtner syndrome. A rare differential Alport syndrome diagnosis
    • DELB W, SCHENK J, IRO H: Fechtner syndrome. A rare differential Alport syndrome diagnosis. HNO 48:616-620, 2000
    • (2000) HNO , vol.48 , pp. 616-620
    • Delb, W.1    Schenk, J.2    Iro, H.3
  • 128
    • 0032763387 scopus 로고    scopus 로고
    • End-stage renal disease in two pediatric patients with Fechtner syndrome
    • MOXEY-MIMS MM, YOUNG G, SILVERMAN A, et al: End-stage renal disease in two pediatric patients with Fechtner syndrome. Pediatr Nephrol 13:782-786, 1999
    • (1999) Pediatr Nephrol , vol.13 , pp. 782-786
    • Moxey-Mims, M.M.1    Young, G.2    Silverman, A.3
  • 129
    • 50549149000 scopus 로고
    • Deaf-mutism and goitre
    • PENDRED V: Deaf-mutism and goitre. Lancet II:532, 1896
    • (1896) Lancet , vol.2 , pp. 532
    • Pendred, V.1
  • 130
    • 8244263673 scopus 로고    scopus 로고
    • Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
    • COYLE B, COFFEY R, ARMOUR JAL, et al: Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 12:421-423, 1996
    • (1996) Nat Genet , vol.12 , pp. 421-423
    • Coyle, B.1    Coffey, R.2    Armour, J.A.L.3
  • 131
    • 0029963073 scopus 로고    scopus 로고
    • Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodineorganification
    • SHEFFIELD VC, KRAIEM Z, BECK JC, et al: Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodineorganification. Nat Genet 12:424-426, 1996
    • (1996) Nat Genet , vol.12 , pp. 424-426
    • Sheffield, V.C.1    Kraiem, Z.2    Beck, J.C.3
  • 132
    • 16944366606 scopus 로고    scopus 로고
    • Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
    • EVERETT LA, GLASER B, BECK JC, et al: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411-422, 1997
    • (1997) Nat Genet , vol.17 , pp. 411-422
    • Everett, L.A.1    Glaser, B.2    Beck, J.C.3
  • 133
    • 0033578352 scopus 로고    scopus 로고
    • Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
    • EVERETT LA, MORSLI H, WU DK, GREEN ED: Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA 96:9727-9732, 1999
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 9727-9732
    • Everett, L.A.1    Morsli, H.2    Wu, D.K.3    Green, E.D.4
  • 135
    • 0035957363 scopus 로고    scopus 로고
    • Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
    • ROYAUX IE, WALL SM, KARNISKI LP, et al: Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci USA 98:4221-4226, 2001
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 4221-4226
    • Royaux, I.E.1    Wall, S.M.2    Karniski, L.P.3
  • 136
    • 0038851888 scopus 로고    scopus 로고
    • Renal and intestinal absorptive defects in mice lacking the NHE3 Na+/H+ exchanger
    • SCHULTHEIS PJ, CLARKE LL, MENETON P, et al: Renal and intestinal absorptive defects in mice lacking the NHE3 Na+/H+ exchanger. Nat Genet 19:282-285, 1998
    • (1998) Nat Genet , vol.19 , pp. 282-285
    • Schultheis, P.J.1    Clarke, L.L.2    Meneton, P.3
  • 137
    • 0034929557 scopus 로고    scopus 로고
    • KCNQ potassium channels: Physiology, pathophysiology, and pharmacology
    • ROBBINS J: KCNQ potassium channels: Physiology, pathophysiology, and pharmacology. Pharmacol Ther 90:1-19, 2001
    • (2001) Pharmacol Ther , vol.90 , pp. 1-19
    • Robbins, J.1
  • 138
    • 0037171857 scopus 로고    scopus 로고
    • Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4
    • BOETTGER T, HUBNER CA, MAIER H, et al: Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4. Nature 416:874-878, 2002
    • (2002) Nature , vol.416 , pp. 874-878
    • Boettger, T.1    Hubner, C.A.2    Maier, H.3
  • 139
    • 0036083443 scopus 로고    scopus 로고
    • Aquaporins in the kidney: From molecules to medicine
    • NIELSEN S, FROKIAER J, MARPLES D, et al: Aquaporins in the kidney: From molecules to medicine. Physiol Rev 82:205-244, 2002
    • (2002) Physiol Rev , vol.82 , pp. 205-244
    • Nielsen, S.1    Frokiaer, J.2    Marples, D.3
  • 140
    • 0037007992 scopus 로고    scopus 로고
    • Aquaporin-2 regulation by vasopressin in the rat inner ear
    • SAWADA S, TAKEDA T, KITANO H, et al: Aquaporin-2 regulation by vasopressin in the rat inner ear. Neuroreport 13:1127-1129, 2002
    • (2002) Neuroreport , vol.13 , pp. 1127-1129
    • Sawada, S.1    Takeda, T.2    Kitano, H.3
  • 142
    • 0036537523 scopus 로고    scopus 로고
    • Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus
    • MARR N, BICHET DG, LONERGAN M, et al: Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus. Hum Mol Genet 11:779-789, 2002
    • (2002) Hum Mol Genet , vol.11 , pp. 779-789
    • Marr, N.1    Bichet, D.G.2    Lonergan, M.3
  • 143
    • 0036359726 scopus 로고    scopus 로고
    • Mpv37 mouse strain - A model for the relationship between the kidney and the inner ear
    • MEYER Z, BALZ V, FELIX H: Mpv37 mouse strain-a model for the relationship between the kidney and the inner ear. Adv Otorhinolaryngol 59:84-90, 2002
    • (2002) Adv Otorhinolaryngol , vol.59 , pp. 84-90
    • Meyer, Z.1    Balz, V.2    Felix, H.3
  • 144
    • 0029858821 scopus 로고    scopus 로고
    • Inner ear defect similar to Alport's syndrome in the glomerulosclerosis mouse model Mpv17
    • MEYER ZUM GOTTESBERGE AM, REUTER A, WEIHER H: Inner ear defect similar to Alport's syndrome in the glomerulosclerosis mouse model Mpv17. Eur Arch Otorhinolaryngol 253:470-474, 1996
    • (1996) Eur Arch Otorhinolaryngol , vol.253 , pp. 470-474
    • Meyer Zum Gottesberge, A.M.1    Reuter, A.2    Weiher, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.