-
1
-
-
0027253046
-
Analysis of the SRY gene in 22 sex-reversed XY females identifies for new point mutations in the conserved DNA binding domain
-
Affara N., Chalmers I.J., and Ferguson-Smith M.A. Analysis of the SRY gene in 22 sex-reversed XY females identifies for new point mutations in the conserved DNA binding domain. Hum. Mol. Genet. 2 (1993) 785-789
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 785-789
-
-
Affara, N.1
Chalmers, I.J.2
Ferguson-Smith, M.A.3
-
2
-
-
0036460676
-
Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46, XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes
-
Assumpcao J.G., Benedetti C.E., Maciel-Guerra A.T., Guerra Jr. G., Baptista M.T., Scolfaro M.R., and De Mello M.P. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46, XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes. J. Mol. Med. 80 (2002) 782-790
-
(2002)
J. Mol. Med.
, vol.80
, pp. 782-790
-
-
Assumpcao, J.G.1
Benedetti, C.E.2
Maciel-Guerra, A.T.3
Guerra Jr., G.4
Baptista, M.T.5
Scolfaro, M.R.6
De Mello, M.P.7
-
3
-
-
0041411159
-
Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis
-
Baldazzi L., Nicolettic A., Gennari M., Barbaro M., Pirazzoli P., Cicognani A., and Cacciari E. Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis. Clin. Genet. 64 (2003) 258-260
-
(2003)
Clin. Genet.
, vol.64
, pp. 258-260
-
-
Baldazzi, L.1
Nicolettic, A.2
Gennari, M.3
Barbaro, M.4
Pirazzoli, P.5
Cicognani, A.6
Cacciari, E.7
-
4
-
-
0029138106
-
Microwave-based DNA extraction from paraffin-embedded tissue for PCR amplification
-
Banerjee S.K., Makdisi W.F., Weston A.P., Mitchell S.M., and Campbell D.R. Microwave-based DNA extraction from paraffin-embedded tissue for PCR amplification. Biotechniques 18 (1995) 768-773
-
(1995)
Biotechniques
, vol.18
, pp. 768-773
-
-
Banerjee, S.K.1
Makdisi, W.F.2
Weston, A.P.3
Mitchell, S.M.4
Campbell, D.R.5
-
5
-
-
0000353630
-
The electrophoretic mobility shift assay for DNA binding proteins
-
Smith Ch.W. (Ed), Oxford University Press
-
Black D.L., Chan R., Min H., Wang J., and Bell L. The electrophoretic mobility shift assay for DNA binding proteins. In: Smith Ch.W. (Ed). RNA:Protein Interaction. A Practical Approach (1998), Oxford University Press 108-118
-
(1998)
RNA:Protein Interaction. A Practical Approach
, pp. 108-118
-
-
Black, D.L.1
Chan, R.2
Min, H.3
Wang, J.4
Bell, L.5
-
6
-
-
0025917146
-
DNA unwinding produced by site-specific intrastrand cross-links of the antitumor drug cis-diamminedichloroplatinum (II)
-
Bellon S.F., Coleman J.H., and Lippard S.J. DNA unwinding produced by site-specific intrastrand cross-links of the antitumor drug cis-diamminedichloroplatinum (II). Biochemistry 30 (1991) 8026-8035
-
(1991)
Biochemistry
, vol.30
, pp. 8026-8035
-
-
Bellon, S.F.1
Coleman, J.H.2
Lippard, S.J.3
-
7
-
-
0026335160
-
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation
-
Berkovitz G.D., Fechner P.Y., Zacur H.W., Rock J.A., Snyder H.M., Migeon C.J., and Perlman E.J. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine 70 (1991) 375-383
-
(1991)
Medicine
, vol.70
, pp. 375-383
-
-
Berkovitz, G.D.1
Fechner, P.Y.2
Zacur, H.W.3
Rock, J.A.4
Snyder, H.M.5
Migeon, C.J.6
Perlman, E.J.7
-
8
-
-
0041989751
-
CASTp: computed atlas of surface topography of proteins
-
Binkowski A., Naghibzadeh S., and Liang J. CASTp: computed atlas of surface topography of proteins. Nucleic Acids Res. 31 (2003) 3352-3355
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3352-3355
-
-
Binkowski, A.1
Naghibzadeh, S.2
Liang, J.3
-
9
-
-
0037255072
-
The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003
-
Boeckmann B., Bairoch A., Apweiler R., Blatter M.C., Estreicher A., Gasteiger E., Martin M.J., Michoud K., O'Donovan C., Phan I., Pilbout S., and Schneider M. The SWISS-PROT protein knowledgebase and its supplement TrEMBL in 2003. Nucleic Acids Res. 31 (2003) 365-370
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 365-370
-
-
Boeckmann, B.1
Bairoch, A.2
Apweiler, R.3
Blatter, M.C.4
Estreicher, A.5
Gasteiger, E.6
Martin, M.J.7
Michoud, K.8
O'Donovan, C.9
Phan, I.10
Pilbout, S.11
Schneider, M.12
-
10
-
-
0027452163
-
True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case
-
Braun A., Kammerer S., Cleve H., Löhrs U., Schwarz H.-P., and Kuhnle U. True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case. Am. J. Hum. Genet. 52 (1993) 578-585
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 578-585
-
-
Braun, A.1
Kammerer, S.2
Cleve, H.3
Löhrs, U.4
Schwarz, H.-P.5
Kuhnle, U.6
-
11
-
-
0030948046
-
Mutations in SRY and SOX9: testis-determining genes
-
Cameron F.J., and Sinclair A.H. Mutations in SRY and SOX9: testis-determining genes. Hum. Mutat. 9 (1997) 388-395
-
(1997)
Hum. Mutat.
, vol.9
, pp. 388-395
-
-
Cameron, F.J.1
Sinclair, A.H.2
-
12
-
-
4544336208
-
Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis
-
Canto P., Söderlund D., Reyes E., and Méndez J.P. Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. J. Clin. Endocrinol. Metab. 89 (2004) 4480-4483
-
(2004)
J. Clin. Endocrinol. Metab.
, vol.89
, pp. 4480-4483
-
-
Canto, P.1
Söderlund, D.2
Reyes, E.3
Méndez, J.P.4
-
13
-
-
0033999286
-
The battle of the sexes
-
Capel B. The battle of the sexes. Mech. Dev. 92 (2000) 89-103
-
(2000)
Mech. Dev.
, vol.92
, pp. 89-103
-
-
Capel, B.1
-
14
-
-
34547592557
-
MolProbity: all-atom contacts and structure validation for proteins and nucleic acids
-
Davis I.W., Leaver-Fay A., Chen V.B., Block J.N., Kapral G.J., Wang X., Murray L.W., Arendall III W.B., Snoeyink J., Richardson J.S., and Richardson D.C. MolProbity: all-atom contacts and structure validation for proteins and nucleic acids. Nucleic Acids Res. 35 (2007) W375-W383
-
(2007)
Nucleic Acids Res.
, vol.35
-
-
Davis, I.W.1
Leaver-Fay, A.2
Chen, V.B.3
Block, J.N.4
Kapral, G.J.5
Wang, X.6
Murray, L.W.7
Arendall III, W.B.8
Snoeyink, J.9
Richardson, J.S.10
Richardson, D.C.11
-
15
-
-
0026439782
-
SRY, like HMG1, recognizes sharp angles in DNA
-
Ferrari S., Harley V.R., Pontiggia A., Goodfellow P.N., Lovell-Badge R., and Bianchi M.E. SRY, like HMG1, recognizes sharp angles in DNA. EMBO J. 11 (1992) 4497-4506
-
(1992)
EMBO J.
, vol.11
, pp. 4497-4506
-
-
Ferrari, S.1
Harley, V.R.2
Pontiggia, A.3
Goodfellow, P.N.4
Lovell-Badge, R.5
Bianchi, M.E.6
-
16
-
-
0001528720
-
Exact and efficient analytical calculation of the accessible surface areas and their gradients for macromolecules
-
Fraczkiewicz R., and Braun W. Exact and efficient analytical calculation of the accessible surface areas and their gradients for macromolecules. J. Comp. Chem. 19 (1998) 319-333
-
(1998)
J. Comp. Chem.
, vol.19
, pp. 319-333
-
-
Fraczkiewicz, R.1
Braun, W.2
-
17
-
-
0031025825
-
Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis
-
Fuqua J.S., McLaughlin J., Perlman E.J., and Berkovitz G.D. Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis. J. Clin. Endocrinol. Metab. 82 (1997) 701-702
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 701-702
-
-
Fuqua, J.S.1
McLaughlin, J.2
Perlman, E.J.3
Berkovitz, G.D.4
-
18
-
-
0026509548
-
DNA binding activity of recombinant SRY from normal males and XY females
-
Harley V.R., Jackson D.I., Hextall P.J., Hawkins J.R., Berkovitz G.D., Sockanathan S., Lovell Badge R., and Goodfellow P.N. DNA binding activity of recombinant SRY from normal males and XY females. Science 255 (1992) 453-456
-
(1992)
Science
, vol.255
, pp. 453-456
-
-
Harley, V.R.1
Jackson, D.I.2
Hextall, P.J.3
Hawkins, J.R.4
Berkovitz, G.D.5
Sockanathan, S.6
Lovell Badge, R.7
Goodfellow, P.N.8
-
19
-
-
0041852775
-
The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9]
-
Harley V.R., Clarkson M.J., and Argentaro A. The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9]. Endocr. Rev. 24 (2003) 466-487
-
(2003)
Endocr. Rev.
, vol.24
, pp. 466-487
-
-
Harley, V.R.1
Clarkson, M.J.2
Argentaro, A.3
-
20
-
-
0025258480
-
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
-
Jäger R.J., Anvret M., Hall K., and Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348 (1990) 452-454
-
(1990)
Nature
, vol.348
, pp. 452-454
-
-
Jäger, R.J.1
Anvret, M.2
Hall, K.3
Scherer, G.4
-
21
-
-
0036327907
-
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father
-
Jordan B.K., Jain M., Natarajan S., Frasier S.D., and Vilain E. Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. J. Clin. Endocrinol. Metab. 87 (2002) 3428-3432
-
(2002)
J. Clin. Endocrinol. Metab.
, vol.87
, pp. 3428-3432
-
-
Jordan, B.K.1
Jain, M.2
Natarajan, S.3
Frasier, S.D.4
Vilain, E.5
-
22
-
-
3242887695
-
Protein structure prediction and analysis using the Robetta server
-
Kim D.E., Chivian D., and Baker D. Protein structure prediction and analysis using the Robetta server. Nucleic Acids Res. 32 (2004) W526-W531
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Kim, D.E.1
Chivian, D.2
Baker, D.3
-
23
-
-
0026490544
-
Use of gel retardation to analyze protein-nucleic acid interactions
-
Lane D., Prentki P., and Chandler M. Use of gel retardation to analyze protein-nucleic acid interactions. Microbiol. Rev. 56 (1992) 509-528
-
(1992)
Microbiol. Rev.
, vol.56
, pp. 509-528
-
-
Lane, D.1
Prentki, P.2
Chandler, M.3
-
25
-
-
0036432466
-
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis
-
Mitchell C.L., and Harley V.R. Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis. Mol. Genet. Metab. 77 (2002) 217-225
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 217-225
-
-
Mitchell, C.L.1
Harley, V.R.2
-
26
-
-
0034663531
-
The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences
-
Peirano R.I., and Wegner M. The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences. Nucleic Acids Res. 28 (2000) 3047-3055
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 3047-3055
-
-
Peirano, R.I.1
Wegner, M.2
-
27
-
-
0028921099
-
An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction
-
Peters R., King C.Y., Ukiyama E., Falsafi S., Donahoe P.K., and Weiss M.A. An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction. Biochemistry. 34 (1995) 4569-4576
-
(1995)
Biochemistry.
, vol.34
, pp. 4569-4576
-
-
Peters, R.1
King, C.Y.2
Ukiyama, E.3
Falsafi, S.4
Donahoe, P.K.5
Weiss, M.A.6
-
28
-
-
4444221565
-
UCSF chimera-a visualization system for exploratory research and analysis
-
Pettersen E.F., Goddard T.D., Huang C.C., Couch G.S., Greenblatt D.M., Meng E.C., and Ferrin T.E. UCSF chimera-a visualization system for exploratory research and analysis. J. Comput. Chem. 25 (2004) 1605-1612
-
(2004)
J. Comput. Chem.
, vol.25
, pp. 1605-1612
-
-
Pettersen, E.F.1
Goddard, T.D.2
Huang, C.C.3
Couch, G.S.4
Greenblatt, D.M.5
Meng, E.C.6
Ferrin, T.E.7
-
29
-
-
0028580157
-
Sex-reversing mutations affect the architecture of SRY-DNA complexes
-
Pontiggia A., Rimini R., Harley V.R., Goodfellow P.N., Lovell-Badge R., and Bianchi M.E. Sex-reversing mutations affect the architecture of SRY-DNA complexes. EMBO J. 13 (1994) 6115-6124
-
(1994)
EMBO J.
, vol.13
, pp. 6115-6124
-
-
Pontiggia, A.1
Rimini, R.2
Harley, V.R.3
Goodfellow, P.N.4
Lovell-Badge, R.5
Bianchi, M.E.6
-
30
-
-
0028214735
-
Description and functional implications of a novel mutations in the sex-determining gene SRY
-
Poulat F., Soullier S., Goze C., Heitz F., Calas B., and Berta P. Description and functional implications of a novel mutations in the sex-determining gene SRY. Hum. Mutat. 3 (1994) 200-204
-
(1994)
Hum. Mutat.
, vol.3
, pp. 200-204
-
-
Poulat, F.1
Soullier, S.2
Goze, C.3
Heitz, F.4
Calas, B.5
Berta, P.6
-
31
-
-
0003252192
-
Preparation and analysis of eukaryotic genomic DNA
-
Nolan C. (Ed), Cold Spring Harbor Laboratory Press, New York
-
Sambrook J., and Russell D. Preparation and analysis of eukaryotic genomic DNA. In: Nolan C. (Ed). Molecular Cloning: A Laboratory Manual (2001), Cold Spring Harbor Laboratory Press, New York 6.1-6.31
-
(2001)
Molecular Cloning: A Laboratory Manual
-
-
Sambrook, J.1
Russell, D.2
-
33
-
-
0014807623
-
Gonadoblastoma- a review of 74 cases
-
Scully R.E. Gonadoblastoma- a review of 74 cases. Cancer 25 (1970) 1340-1356
-
(1970)
Cancer
, vol.25
, pp. 1340-1356
-
-
Scully, R.E.1
-
34
-
-
0028960403
-
Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers
-
Schmitt-Ney M., Thiele H., Kaltwaber P., Bardoni B., Cisternino M., and Scherer G. Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am. J. Hum. Genet. 56 (1995) 862-869
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 862-869
-
-
Schmitt-Ney, M.1
Thiele, H.2
Kaltwaber, P.3
Bardoni, B.4
Cisternino, M.5
Scherer, G.6
-
35
-
-
4344621609
-
Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation
-
Shahid M., Dhillion V.S., Jain N., Hedau S., Diwakar S., Sachdeva P., Batra S., Das B.C., and Husain S.A. Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation. Mol. Hum. Reprod. 10 (2004) 521-526
-
(2004)
Mol. Hum. Reprod.
, vol.10
, pp. 521-526
-
-
Shahid, M.1
Dhillion, V.S.2
Jain, N.3
Hedau, S.4
Diwakar, S.5
Sachdeva, P.6
Batra, S.7
Das, B.C.8
Husain, S.A.9
-
36
-
-
0025364886
-
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
-
Sinclair A.H., Berta P., Palmer M.S., Hawkins J.R., Griffiths B.L., Smith M.J., Foster J.W., Frischauf A.M., Lovell-Badge R., and Goodfellow P.N. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346 (1990) 240-244
-
(1990)
Nature
, vol.346
, pp. 240-244
-
-
Sinclair, A.H.1
Berta, P.2
Palmer, M.S.3
Hawkins, J.R.4
Griffiths, B.L.5
Smith, M.J.6
Foster, J.W.7
Frischauf, A.M.8
Lovell-Badge, R.9
Goodfellow, P.N.10
-
37
-
-
0033118412
-
Mammalian sex determination: a molecular drama
-
Swain A., and Lovell-Badge R. Mammalian sex determination: a molecular drama. Genes Dev. 13 (1999) 755-767
-
(1999)
Genes Dev.
, vol.13
, pp. 755-767
-
-
Swain, A.1
Lovell-Badge, R.2
-
38
-
-
0028240486
-
A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis
-
Tajima T., Nakae J., Shinohara N., and Fujieda K. A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis. Hum. Mol. Genet. 3 (1994) 1187-1189
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1187-1189
-
-
Tajima, T.1
Nakae, J.2
Shinohara, N.3
Fujieda, K.4
-
39
-
-
33644667202
-
NHERF2/SIP-1 interacts with mouse SRY via a different mechanism than human SRY
-
Thevenet L., Albrecht K.H., Malki S., Berta P., Boizet-Bonhoure B., and Poulat F. NHERF2/SIP-1 interacts with mouse SRY via a different mechanism than human SRY. J. Biol. Chem. 280 (2005) 38625-38630
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 38625-38630
-
-
Thevenet, L.1
Albrecht, K.H.2
Malki, S.3
Berta, P.4
Boizet-Bonhoure, B.5
Poulat, F.6
-
40
-
-
0032488607
-
Human testis-determining factor SRY binds to the major DNA adduct of cisplatin and a putative target sequence with comparable affinities
-
Trimmer E.E., Zamble D.B., Lippard S.J., and Essigmann J.M. Human testis-determining factor SRY binds to the major DNA adduct of cisplatin and a putative target sequence with comparable affinities. Biochemistry 37 (1998) 352-362
-
(1998)
Biochemistry
, vol.37
, pp. 352-362
-
-
Trimmer, E.E.1
Zamble, D.B.2
Lippard, S.J.3
Essigmann, J.M.4
-
41
-
-
0029075461
-
Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex
-
Werner M.H., Huth J.R., Gronenborn A.M., and Clore G.M. Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex. Cell 81 (1995) 705-714
-
(1995)
Cell
, vol.81
, pp. 705-714
-
-
Werner, M.H.1
Huth, J.R.2
Gronenborn, A.M.3
Clore, G.M.4
-
42
-
-
0027306801
-
Rapid sequence evolution of the mammalian sex-determining gene SRY
-
Whitfield L.S., Lovell-Badge R., and Goodfellow P.N. Rapid sequence evolution of the mammalian sex-determining gene SRY. Nature 364 (1993) 713-715
-
(1993)
Nature
, vol.364
, pp. 713-715
-
-
Whitfield, L.S.1
Lovell-Badge, R.2
Goodfellow, P.N.3
|