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Volumn 2, Issue 6, 2009, Pages 302-308

Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate

Author keywords

Cleft palate; Disorders of sexual development; FOXF2; Genital development; Genital tubercle

Indexed keywords

ALANINE; CYSTEINE; DNA; GLYCINE; MESSENGER RNA; SERINE; THREONINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXF2; TYROSINE; UNCLASSIFIED DRUG;

EID: 62249208699     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000195679     Document Type: Article
Times cited : (10)

References (21)
  • 1
    • 0036277895 scopus 로고    scopus 로고
    • Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner
    • Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, et al: Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab 87:1829-1833 (2002).
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 1829-1833
    • Achermann, J.C.1    Ozisik, G.2    Ito, M.3    Orun, U.A.4    Harmanci, K.5
  • 2
    • 0034060221 scopus 로고    scopus 로고
    • Forkhead transcription factor FoxF2 is expressed in mesodermal tissues involved in epithelio-mesenchymal interactions
    • Aitola M, Carlsson P, Mahlapuu M, Enerbäck S, Pelto-Huikko M: Forkhead transcription factor FoxF2 is expressed in mesodermal tissues involved in epithelio-mesenchymal interactions. Dev Dyn 218:136-149 (2000).
    • (2000) Dev Dyn , vol.218 , pp. 136-149
    • Aitola, M.1    Carlsson, P.2    Mahlapuu, M.3    Enerbäck, S.4    Pelto-Huikko, M.5
  • 3
    • 0025835296 scopus 로고
    • Fast and sensitive silver staining of DNA in polyacrylamide gels
    • Bassam BJ, Caetano-Anolles G, Gresshoff PM: Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 196:80-83 (1991).
    • (1991) Anal Biochem , vol.196 , pp. 80-83
    • Bassam, B.J.1    Caetano-Anolles, G.2    Gresshoff, P.M.3
  • 5
    • 0032211612 scopus 로고    scopus 로고
    • The two-exon gene of the human forkhead transcription factor FREAC-2 (FKHL6) is located at 6p25.3
    • Blixt A, Mahlapuu M, Bjursell C, Darnfors C, Johannesson T, et al: The two-exon gene of the human forkhead transcription factor FREAC-2 (FKHL6) is located at 6p25.3. Genomics 53:387-390 (1998).
    • (1998) Genomics , vol.53 , pp. 387-390
    • Blixt, A.1    Mahlapuu, M.2    Bjursell, C.3    Darnfors, C.4    Johannesson, T.5
  • 6
    • 18544409648 scopus 로고    scopus 로고
    • Molecular analysis of external genitalia formation: The role of fibroblast growth factor (Fgf) genes during genital tubercle formation
    • Haraguchi R, Suzuki K, Murakami R, Sakai M, Kamikawa M, et al: Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation. Development 127:2471-2479 (2000).
    • (2000) Development , vol.127 , pp. 2471-2479
    • Haraguchi, R.1    Suzuki, K.2    Murakami, R.3    Sakai, M.4    Kamikawa, M.5
  • 7
    • 0034974840 scopus 로고    scopus 로고
    • A Unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants
    • Hellwinkel OJ, Holterhus PM, Struve D, Marschke C, Homburg N, Hiort O: A Unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants. J Clin Endocrinol Metab 86:2569-2575 (2001).
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2569-2575
    • Hellwinkel, O.J.1    Holterhus, P.M.2    Struve, D.3    Marschke, C.4    Homburg, N.5    Hiort, O.6
  • 8
    • 0034049679 scopus 로고    scopus 로고
    • The molecular basis of male sexual differentiation
    • Hiort O, Holterhus PM: The molecular basis of male sexual differentiation. Eur J Endocrinol 142:101-110 (2000).
    • (2000) Eur J Endocrinol , vol.142 , pp. 101-110
    • Hiort, O.1    Holterhus, P.M.2
  • 9
    • 0038576864 scopus 로고    scopus 로고
    • Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: Evidence for programming involving the androgen receptor
    • Holterhus PM, Hiort O, Demeter J, Brown PO, Brooks JD: Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for programming involving the androgen receptor. Genome Biol 4:R37 (2003).
    • (2003) Genome Biol , vol.4
    • Holterhus, P.M.1    Hiort, O.2    Demeter, J.3    Brown, P.O.4    Brooks, J.D.5
  • 10
    • 4944263717 scopus 로고    scopus 로고
    • Molecular mechanisms of DAX1 action
    • Iyer A, McCabe E: Molecular mechanisms of DAX1 action. Mol Genet Metab 83:60-73 (2004).
    • (2004) Mol Genet Metab , vol.83 , pp. 60-73
    • Iyer, A.1    McCabe, E.2
  • 11
    • 0035002512 scopus 로고    scopus 로고
    • Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans
    • Jordan B, Mohammed M, Ching S, Delot E, Chen X, et al: Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet 68:1102-1109 (2001).
    • (2001) Am J Hum Genet , vol.68 , pp. 1102-1109
    • Jordan, B.1    Mohammed, M.2    Ching, S.3    Delot, E.4    Chen, X.5
  • 12
    • 17344379513 scopus 로고    scopus 로고
    • Five years on the wings of fork head
    • Kaufmann E, Knöchel W: Five years on the wings of fork head. Mech Dev 57:3-20 (1996).
    • (1996) Mech Dev , vol.57 , pp. 3-20
    • Kaufmann, E.1    Knöchel, W.2
  • 13
    • 0036004507 scopus 로고    scopus 로고
    • Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a
    • Lim SH, Poh LK, Cowell CT, Tey BH, Loke KY: Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a. J Pediatr Endocrinol Metab 15:259-268 (2002).
    • (2002) J Pediatr Endocrinol Metab , vol.15 , pp. 259-268
    • Lim, S.H.1    Poh, L.K.2    Cowell, C.T.3    Tey, B.H.4    Loke, K.Y.5
  • 14
    • 0041669549 scopus 로고    scopus 로고
    • Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia
    • Morgan EA, Nguyen SB, Scott V, Stadler HS: Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia. Development 130:3095-3109 (2003).
    • (2003) Development , vol.130 , pp. 3095-3109
    • Morgan, E.A.1    Nguyen, S.B.2    Scott, V.3    Stadler, H.S.4
  • 15
    • 0031050961 scopus 로고    scopus 로고
    • Mutation of HOXA13 in hand-foot-gential syndrome
    • Mortlock D, Innis J: Mutation of HOXA13 in hand-foot-gential syndrome. Nat Genet 15:179-180 (1997).
    • (1997) Nat Genet , vol.15 , pp. 179-180
    • Mortlock, D.1    Innis, J.2
  • 16
    • 0942265609 scopus 로고    scopus 로고
    • Differences in the embryonic expression patterns of mouse Foxf1 and -2 match their distinct mutant phenotypes
    • Ormestad M, Astorga J, Carlsson P: Differences in the embryonic expression patterns of mouse Foxf1 and -2 match their distinct mutant phenotypes. Dev Dyn 229:328-333 (2004).
    • (2004) Dev Dyn , vol.229 , pp. 328-333
    • Ormestad, M.1    Astorga, J.2    Carlsson, P.3
  • 17
    • 0031463328 scopus 로고    scopus 로고
    • Parma P, Pailhoux E, Puissant C, Cotinot C: Porcine Dax-1 gene: isolation and expression during gonadal development. Mol Cell Endocrinol 135:49-58 (1997).
    • Parma P, Pailhoux E, Puissant C, Cotinot C: Porcine Dax-1 gene: isolation and expression during gonadal development. Mol Cell Endocrinol 135:49-58 (1997).
  • 19
    • 33748779292 scopus 로고    scopus 로고
    • Epidemiology and initial management of ambiguous genitalia at birth in Germany
    • Thyen U, Lanz K, Holterhus PM, Hiort O: Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res 66:195-203 (2006).
    • (2006) Horm Res , vol.66 , pp. 195-203
    • Thyen, U.1    Lanz, K.2    Holterhus, P.M.3    Hiort, O.4
  • 20
    • 14344262552 scopus 로고    scopus 로고
    • Updated diagnostic criteria for CHARGE syndrome: A proposal
    • Verloes A: Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet 133A:306-308 (2005).
    • (2005) Am J Med Genet , vol.133 A , pp. 306-308
    • Verloes, A.1
  • 21
    • 0038044736 scopus 로고    scopus 로고
    • Forkhead transcription factor Foxf2 (LUN)-deficient mice exhibit abnormal development of secondary palate
    • Wang T, Tamakoshi T, Uezato T, Shu F, Kanzaki-Kato N, et al: Forkhead transcription factor Foxf2 (LUN)-deficient mice exhibit abnormal development of secondary palate. Dev Biol 259:83-94 (2003).
    • (2003) Dev Biol , vol.259 , pp. 83-94
    • Wang, T.1    Tamakoshi, T.2    Uezato, T.3    Shu, F.4    Kanzaki-Kato, N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.