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Quoted phrase not found in phrase index: "46,XY sex reversal 9"
Page 1
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. Kim GJ, et al. J Med Genet. 2015 Apr;52(4):240-7. doi: 10.1136/jmedgenet-2014-102864. Epub 2015 Jan 20. J Med Genet. 2015. PMID: 25604083
A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). We wanted to better define this region for both disorders. RESULTS: By CNV …
A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46 …
Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.
Chen YS, Racca JD, Phillips NB, Weiss MA. Chen YS, et al. Proc Natl Acad Sci U S A. 2013 Sep 17;110(38):E3567-76. doi: 10.1073/pnas.1300828110. Epub 2013 Sep 3. Proc Natl Acad Sci U S A. 2013. PMID: 24003159 Free PMC article.
Human testis determination is initiated by SRY (sex determining region on Y chromosome). Mutations in SRY cause gonadal dysgenesis with female somatic phenotype. ...This shared twofold threshold is reminiscent of autosomal syndromes of transcription-factor haploinsufficien …
Human testis determination is initiated by SRY (sex determining region on Y chromosome). Mutations in SRY cause gonadal dysgenesis wi …
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A. Barbaro M, et al. Eur J Hum Genet. 2009 Nov;17(11):1439-47. doi: 10.1038/ejhg.2009.70. Epub 2009 May 6. Eur J Hum Genet. 2009. PMID: 19417767 Free PMC article.
Multiple ligation-dependent probe amplification represents a useful technique to evaluate submicroscopic interstitial or distal deletions that would help the definition of the minimal sex reversal region on 9p and could lead to the identification of gene(s) responsi …
Multiple ligation-dependent probe amplification represents a useful technique to evaluate submicroscopic interstitial or distal deletions th …
A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.
Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S. Flejter WL, et al. Am J Hum Genet. 1998 Sep;63(3):794-802. doi: 10.1086/302016. Am J Hum Genet. 1998. PMID: 9718346 Free PMC article.
The fortuitous finding of chromosomal rearrangements in association with a sex-reversed phenotype has led to the isolation of SRY and SOX9, both shown to be involved in the sex-determining pathway. In addition, duplications of the X chromosome, deletions of c …
The fortuitous finding of chromosomal rearrangements in association with a sex-reversed phenotype has led to the isolation of …
Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.
Murphy EC, Zhurkin VB, Louis JM, Cornilescu G, Clore GM. Murphy EC, et al. J Mol Biol. 2001 Sep 21;312(3):481-99. doi: 10.1006/jmbi.2001.4977. J Mol Biol. 2001. PMID: 11563911
The HMG-box domain of the human male sex-determining factor SRY, hSRY(HMG) (comprising residues 57-140 of the full-length sequence), binds DNA sequence-specifically in the minor groove, resulting in substantial DNA bending. The majority of point mutations resulting in 46X, …
The HMG-box domain of the human male sex-determining factor SRY, hSRY(HMG) (comprising residues 57-140 of the full-length sequence), …
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
Meyer J, Südbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, Eggermont E, Friedrich U, Haas OA, Kobelt A, Leroy JG, Van Maldergem L, Michel E, Mitulla B, Pfeiffer RA, Schinzel A, Schmidt H, Scherer G. Meyer J, et al. Hum Mol Genet. 1997 Jan;6(1):91-8. doi: 10.1093/hmg/6.1.91. Hum Mol Genet. 1997. PMID: 9002675 Free article.
Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance. Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome …
Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex …
Frasier syndrome: four new cases with unusual presentations.
Guaragna MS, Lutaif AC, Bittencourt VB, Piveta CS, Soardi FC, Castro LC, Belangero VM, Maciel-Guerra AT, Guerra-Junior G, Mello MP. Guaragna MS, et al. Arq Bras Endocrinol Metabol. 2012 Nov;56(8):525-32. doi: 10.1590/s0004-27302012000800011. Arq Bras Endocrinol Metabol. 2012. PMID: 23295293
It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyotype present normal female genitalia with streak gonads, and have higher risk of gonadal tumor, mainly, gonadoblastoma. ...Since the great maj …
It is caused by specific mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23. Patients with the 46,XY karyoty …
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B, Song Y, Su Z, Luo FH, Chen L, Wang X, Chen R, Yang Y, Wang J, Zhao X, Fan L, Liu X, Wang Y, Chen S, Gong C. Gui B, et al. J Med Genet. 2019 Oct;56(10):685-692. doi: 10.1136/jmedgenet-2018-105915. Epub 2019 Jun 11. J Med Genet. 2019. PMID: 31186340
BACKGROUND: The 5alpha-reductase type 2 (5alpha-RD2) deficiency caused by mutations in the steroid 5alpha-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in patients with 46,XY disorders of sex development. This study aims to profil …
BACKGROUND: The 5alpha-reductase type 2 (5alpha-RD2) deficiency caused by mutations in the steroid 5alpha-reductase 2 (SRD5A2) gene results …
Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal.
Hsiao HP, Tsai LP, Chao MC, Tseng HI, Chang YC. Hsiao HP, et al. J Formos Med Assoc. 2006 Dec;105(12):1013-6. doi: 10.1016/S0929-6646(09)60286-2. J Formos Med Assoc. 2006. PMID: 17185244 Free article.
Campomelic dysplasia (CD; OMIM #114290) is an autosomal dominant, frequently lethal dysplasia syndrome whose primary features include angular bowing and shortening of the limbs, and sex reversal in the majority of affected XY individuals. Most CD cases have heterozy …
Campomelic dysplasia (CD; OMIM #114290) is an autosomal dominant, frequently lethal dysplasia syndrome whose primary features include angula …
Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal.
Kaur G, Delluc-Clavieres A, Poon IK, Forwood JK, Glover DJ, Jans DA. Kaur G, et al. Biochem J. 2010 Aug 15;430(1):39-48. doi: 10.1042/BJ20091758. Biochem J. 2010. PMID: 20528776 Free PMC article.
The HMG (high-mobility group)-box-containing chromatin-remodelling factor SRY (sex-determining region on the Y chromosome) plays a key role in sex determination. ...CaM-binding/resultant nuclear accumulation was the only property of SRY found to be impaired by two o …
The HMG (high-mobility group)-box-containing chromatin-remodelling factor SRY (sex-determining region on the Y chromosome) plays a ke …
11 results