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Volumn 89, Issue 1-2, 2000, Pages 44-50

Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION X; CHROMOSOME XQ; CONTROLLED STUDY; HUMAN; HUMAN CELL; OVARY DISEASE; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

EID: 0033934014     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000015560     Document Type: Article
Times cited : (85)

References (34)
  • 1
    • 17344369363 scopus 로고    scopus 로고
    • A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: Evidence for conserved function in oogenesis and implications for human sterility
    • Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D: A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J hum Genet 62:533-541 (1998).
    • (1998) Am J Hum Genet , vol.62 , pp. 533-541
    • Bione, S.1    Sala, C.2    Manzini, C.3    Arrigo, G.4    Zuffardi, O.5    Banfi, S.6    Borsani, G.7    Jonveaux, P.8    Philippe, C.9    Zuccotti, M.10    Ballabio, A.11    Toniolo, D.12
  • 2
    • 0023719677 scopus 로고
    • Peptiduria presumably caused by aminopeptidase-P deficiency: A new inborn error of metabolism
    • Blau N, Niederwieser A, Shmerling DH: Peptiduria presumably caused by aminopeptidase-P deficiency: a new inborn error of metabolism. J Inherit metab Dis 11:240-242 (1988).
    • (1988) J Inherit Metab Dis , vol.11 , pp. 240-242
    • Blau, N.1    Niederwieser, A.2    Shmerling, D.H.3
  • 3
    • 0021658651 scopus 로고
    • Meiotic pairing and gametogenic failure
    • Burgoyne PS, Baker TG: Meiotic pairing and gametogenic failure. Symp Soc exp Biol 38:349-362 (1984).
    • (1984) Symp Soc Exp Biol , vol.38 , pp. 349-362
    • Burgoyne, P.S.1    Baker, T.G.2
  • 4
    • 0022370034 scopus 로고
    • Perinatal oocyte loss in XO mice and its implications for the ætiology of gonadal dysgenesis in XO women
    • Burgoyne PS, Baker TG: Perinatal oocyte loss in XO mice and its implications for the ætiology of gonadal dysgenesis in XO women. J Reprod Fertil 75:633-645 (1985).
    • (1985) J Reprod Fertil , vol.75 , pp. 633-645
    • Burgoyne, P.S.1    Baker, T.G.2
  • 5
    • 0028053435 scopus 로고
    • Diaphanous is required for cytokinesis in Drosophila and shares domains of similarity with the products of the limb deformity gene
    • Castrillon DH, Wasserman SA: Diaphanous is required for cytokinesis in Drosophila and shares domains of similarity with the products of the limb deformity gene. Development 120:3367-3377 (1994).
    • (1994) Development , vol.120 , pp. 3367-3377
    • Castrillon, D.H.1    Wasserman, S.A.2
  • 7
    • 0020359680 scopus 로고
    • Premature gonadal failure
    • Coulam CB: Premature gonadal failure. Fertil Steril 38:645-655 (1982).
    • (1982) Fertil Steril , vol.38 , pp. 645-655
    • Coulam, C.B.1
  • 10
    • 0004225372 scopus 로고
    • Establishment of permanent cell lines by Epstein-Barr virus transformation
    • Dracopoli, N, Haines J, Korf B, Moir D, Morion C, Seidman C, Seidman J, Smith, D(eds): John Wiley & Sons, New York
    • Gilbert J: Establishment of permanent cell lines by Epstein-Barr virus transformation, in Dracopoli, N, Haines J, Korf B, Moir D, Morion C, Seidman C, Seidman J, Smith, D(eds): Current Protocols in Human Genetics, pp A.3.H.1-A.3.H.5 (John Wiley & Sons, New York 1995).
    • (1995) Current Protocols in Human Genetics
    • Gilbert, J.1
  • 12
    • 0019906270 scopus 로고
    • H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis
    • Haseltine FP, Lynch VA, Van Dyke DL, Breg WR, Francke U: H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis. Am J med Genet 13:115-123 (1982).
    • (1982) Am J Med Genet , vol.13 , pp. 115-123
    • Haseltine, F.P.1    Lynch, V.A.2    Van Dyke, D.L.3    Breg, W.R.4    Francke, U.5
  • 13
    • 0023503927 scopus 로고
    • Critical region hypothesis: Primary amenorrhea in an 18-year-old woman with a complex translocation (X;2;8)
    • Juberg RC, Hayes ML: Critical region hypothesis: primary amenorrhea in an 18-year-old woman with a complex translocation (X;2;8). Am J med Genet 3(Suppl): 145-150 (1987).
    • (1987) Am J Med Genet , vol.3 , Issue.SUPPL. , pp. 145-150
    • Juberg, R.C.1    Hayes, M.L.2
  • 15
    • 0032325152 scopus 로고    scopus 로고
    • Autoimmune premature ovarian failure: Of mice and women
    • Kalantaridou SN, Nelson LM: Autoimmune premature ovarian failure: of mice and women. J Am Med Womens Assoc 53:18-20 (1998).
    • (1998) J Am Med Womens Assoc , vol.53 , pp. 18-20
    • Kalantaridou, S.N.1    Nelson, L.M.2
  • 19
    • 0030725069 scopus 로고    scopus 로고
    • Functional coherence of the human Y chromosome
    • Lahn BT, Page DC: Functional coherence of the human Y chromosome. Science 278:675-680 (1997).
    • (1997) Science , vol.278 , pp. 675-680
    • Lahn, B.T.1    Page, D.C.2
  • 20
    • 0033615708 scopus 로고    scopus 로고
    • Four evolutionary strata on the human X chromosome
    • Lahn BT, Page DC: Four evolutionary strata on the human X chromosome. Science 286:964-967 (1999).
    • (1999) Science , vol.286 , pp. 964-967
    • Lahn, B.T.1    Page, D.C.2
  • 21
    • 0016804341 scopus 로고
    • Human X-autosome translocations: Differential inactivation of the X chromosome in a kindred with an X-9 translocation
    • Leisti JT, Kaback MM, Rimoin DL: Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am J hum Genet 27:441-453 (1975).
    • (1975) Am J Hum Genet , vol.27 , pp. 441-453
    • Leisti, J.T.1    Kaback, M.M.2    Rimoin, D.L.3
  • 22
    • 0020559402 scopus 로고
    • Balanced structural changes involving the human X: Effect on sexual phenotype
    • Madan K: Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 63:216-221 (1983).
    • (1983) Hum Genet , vol.63 , pp. 216-221
    • Madan, K.1
  • 25
    • 0029552408 scopus 로고
    • Effect of a new aminopeptidase P inhibitor, apstatin, on bradykinin degradation in the rat lung
    • Prechel MM, Orawski AT, Maggiora LL, Simmons WH: Effect of a new aminopeptidase P inhibitor, apstatin, on bradykinin degradation in the rat lung. J Pharmacol exp Ther 275:1136-1142 (1995).
    • (1995) J Pharmacol Exp Ther , vol.275 , pp. 1136-1142
    • Prechel, M.M.1    Orawski, A.T.2    Maggiora, L.L.3    Simmons, W.H.4
  • 27
    • 0028358845 scopus 로고
    • Characterization of rat pulmonary vascular aminopeptidase P in vivo: Role in the inactivation of bradykinin
    • Ryan JW, Berryer P, Chung AY, Sheffy DH: Characterization of rat pulmonary vascular aminopeptidase P in vivo: role in the inactivation of bradykinin. J Pharmacol exp Ther 269:941-947 (1994).
    • (1994) J Pharmacol Exp Ther , vol.269 , pp. 941-947
    • Ryan, J.W.1    Berryer, P.2    Chung, A.Y.3    Sheffy, D.H.4
  • 29
    • 0017333004 scopus 로고
    • Secondary amenorrhea associated with balanced X-autosome translocation
    • Sauer F, Greenstein RM, Reardon P, Riddick DH: Secondary amenorrhea associated with balanced X-autosome translocation. Obstet Gynecol 49:101-104 (1977).
    • (1977) Obstet Gynecol , vol.49 , pp. 101-104
    • Sauer, F.1    Greenstein, R.M.2    Reardon, P.3    Riddick, D.H.4
  • 30
    • 0031782294 scopus 로고    scopus 로고
    • Environmental toxicants and female reproduction
    • Sharara FI, Seifer DB, Flaws JA: Environmental toxicants and female reproduction. Fertil Steril 70: 613-622 (1998). Sprinkle TJ, Stone AA, Venema RC, Denslow ND, Caldwell C, Ryan JW: Assignment of the membrane-bound human aminopeptidase P gene (XPNPEP2) to chromosome Xq25. Genomics 50:114-116 (1998).
    • (1998) Fertil Steril , vol.70 , pp. 613-622
    • Sharara, F.I.1    Seifer, D.B.2    Flaws, J.A.3
  • 31
    • 0032524896 scopus 로고    scopus 로고
    • Assignment of the membrane-bound human aminopeptidase P gene (XPNPEP2) to chromosome Xq25
    • Sharara FI, Seifer DB, Flaws JA: Environmental toxicants and female reproduction. Fertil Steril 70: 613-622 (1998). Sprinkle TJ, Stone AA, Venema RC, Denslow ND, Caldwell C, Ryan JW: Assignment of the membrane-bound human aminopeptidase P gene (XPNPEP2) to chromosome Xq25. Genomics 50:114-116 (1998).
    • (1998) Genomics , vol.50 , pp. 114-116
    • Sprinkle, T.J.1    Stone, A.A.2    Venema, R.C.3    Denslow, N.D.4    Caldwell, C.5    Ryan, J.W.6
  • 32
    • 0025092789 scopus 로고
    • The critical region on the human Xq
    • Therman E, Laxova R, Susman B: The critical region on the human Xq. Hum Genet 85:455-461 (1990).
    • (1990) Hum Genet , vol.85 , pp. 455-461
    • Therman, E.1    Laxova, R.2    Susman, B.3
  • 34
    • 0030710551 scopus 로고    scopus 로고
    • Cloning and tissue distribution of human membrane-bound aminopeptidase P
    • Venema RC, Ju H, Zou R, Venema VJ, Ryan JW: Cloning and tissue distribution of human membrane-bound aminopeptidase P. Biochim biophys Acta 1354:45-48 (1997).
    • (1997) Biochim Biophys Acta , vol.1354 , pp. 45-48
    • Venema, R.C.1    Ju, H.2    Zou, R.3    Venema, V.J.4    Ryan, J.W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.