dc.creator | de Mello M.P. | |
dc.creator | de Souza Franca E.S. | |
dc.creator | Fabbri H.C. | |
dc.creator | Maciel-Guerra A.T. | |
dc.creator | Guerra-Junior G. | |
dc.date | 2011 | |
dc.date | 2015-06-30T20:32:36Z | |
dc.date | 2015-11-26T14:51:01Z | |
dc.date | 2015-06-30T20:32:36Z | |
dc.date | 2015-11-26T14:51:01Z | |
dc.date.accessioned | 2018-03-28T22:02:28Z | |
dc.date.available | 2018-03-28T22:02:28Z | |
dc.identifier | | |
dc.identifier | Arquivos Brasileiros De Endocrinologia E Metabologia. , v. 55, n. 8, p. 607 - 612, 2011. | |
dc.identifier | 42730 | |
dc.identifier | 10.1590/S0004-27302011000800015 | |
dc.identifier | http://www.scopus.com/inward/record.url?eid=2-s2.0-84855437960&partnerID=40&md5=eb1cd22fb8545b1a0d44451095f0db83 | |
dc.identifier | http://www.repositorio.unicamp.br/handle/REPOSIP/108320 | |
dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/108320 | |
dc.identifier | 2-s2.0-84855437960 | |
dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1254353 | |
dc.description | Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and fndings related to mutations in its coding gene, NR5A1. 2011;55(8):607-12. © ABE&M todos os direitos reservados. | |
dc.description | 55 | |
dc.description | 8 | |
dc.description | 607 | |
dc.description | 612 | |
dc.description | Swain, A., Sex determination and differentiation (2006) Knobil and Neill's Physiology of Reproduction, pp. 245-260. , Neill JD, editor, 3rd ed. New York: Elsevier | |
dc.description | Biason-Lauber, A., Control of sex development (2010) Best Pract Res Clin Endocrinol Metab, 24 (2), pp. 163-186 | |
dc.description | Goodfellow, P.N., Darling, S.M., Genetics of sex determination (1988) Development, 102 (2), pp. 251-258 | |
dc.description | De-Mello, M.P., Soardi, F.C., Genes envolvidos na determinação sexual (2010) Menino Ou Menina? Os Distúrbios Da Diferenciação Do Sexo, pp. 3-14. , Maciel-Guerra AT, Guerra-Ju ́nior G, editores, 2. ed. São Paulo: Rubio | |
dc.description | Guerra-Júnior, G., Maciel-Guerra, A.T., The role of the pediatrician in the management of children with genital ambiguities (2007) J Pediatr (Rio J), 83 (5 SUPPL), pp. 184-191 | |
dc.description | Hughes, I.A., Houk, C., Ahmed, S.F., Lee, P.A., Group, L.C., Group, E.C., Consensus statement on management of intersex disorders (2006) Arch Dis Child, 91 (7), pp. 554-563 | |
dc.description | Nabhan, Z.M., Lee, P.A., Disorders of sex development (2007) Curr Opin Obstet Gynecol, 19 (5), pp. 440-445 | |
dc.description | Kousta, E., Papathanasiou, A., Skordis, N., Sex determination and disorders of the sex development according to the revised nomenclature and classifcation in 46,XX individuals (2010) Hormones, 9 (3), pp. 218-231 | |
dc.description | Mello, M.P., Assumpção, J.G., Hackel, C., Genes involved in sex determination and differentiation (2005) Arq Bras Endocrinol Metabol, 49 (1), pp. 14-25 | |
dc.description | Ribeiro Scolfaro, M., Aparecida Cardinalli, I., Gabas Stuchi-Perez, E., Palandi de Mello, M., de Godoy Assumpção, J., Matias Baptista, M.T., Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism (2001) Arch Pathol Lab Med, 125 (5), pp. 652-656 | |
dc.description | Lipay, M.V., Bianco, B., Verreschi, I.T., Disgenesias gonadais e tumores: Aspectos genéticos e clínicos (2005) Arq Bras Endocrinol Metabol, 49 (1), pp. 60-70 | |
dc.description | Andrade, J.G., Guerra-Júnior, G., Maciel-Guerra, A.T., 46,XY and 45,X/46,XY testicular dysgenesis: Similar gonadal and genital phenotype, different prognosis (2010) Arq Bras Endocrinol Metabol, 54 (3), pp. 331-334 | |
dc.description | Gourlay, W.A., Johnson, H.W., Pantzar, J.T., McGillivray, R., Crawford, R., Nielsen, W., Gonadal tumors in disorders of sexual differentiation (1994) Urology, 43 (4), pp. 537-540 | |
dc.description | Alvarez-Nava, F., Puerta, H., Soto, M., Pineda, L., Temponi, A., High incidence of Y- chromosome microdeletions in gonadal tissues from patients with 45,X/46 (2008) XY Gonadal Dysgenesis Fertil Steril, 89 (2), pp. 458-460 | |
dc.description | Biason-Lauber, A., Control of sex development (2010) Best Pract Res Clin Endocrinol Metab, 24 (2), pp. 163-186 | |
dc.description | El-Khairi, R., Martinez-Aguayo, A., Ferraz-de-Souza, B., Lin, L., Acher-Mann, J.C., Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function (2011) Endocr Dev, 20, pp. 38-46 | |
dc.description | Hanley, N.A., Ball, S.G., Clement-Jones, M., Hagan, D.M., Strachan, T., Lindsay, S., Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination (1999) Mech Dev, 87 (1-2), pp. 175-180 | |
dc.description | Shen, W.H., Moore, C.C.D., Ikeda, Y., Parker, K.L., Holly, A.I., Nuclear receptor steroidogenic factor 1 regulates the Mullerian inhibiting substance gene: A link to the sex determination cascade (1994) Cell, 77 (5), pp. 651-661 | |
dc.description | Mlynarczuk, J., Rekawiecki, R., The role of the orphan receptor SF-1 in the development and function of the ovary (2010) Reprod Biol, 10 (3), pp. 177-193 | |
dc.description | Hoivik, E.A., Lewis, A.E., Aumo, L., Bakke, M., Molecular aspects of ste-roidogenic factor 1 (SF-1) (2010) Mol Cell Endocrinol, 315 (1-2), pp. 27-39 | |
dc.description | Büdefeld, T., Tobet, S.A., Majdic, G., Steroidogenic factor 1 and the central nervous system J Neuroendocrinol, , 2011 Jun 11. doi: 10.1111/j.1365-2826.2011.02174.x. [Epub ahead of print] | |
dc.description | Lala, D.S., Rice, D.A., Parker, K.L., Steroidogenic factor, I., A key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor I (1992) Mol Endocrinol, 6 (8), pp. 1249-1258 | |
dc.description | Parker, K.L., Rice, D.A., Lala, D.S., Ikeda, Y., Luo, X., Wong, M., Ste-roidogenic factor 1: An essential mediator of endocrine development (2002) Recent Prog Horm Res, 57, pp. 19-36 | |
dc.description | Zimmermann, S., Schwarzler, A., Buth, S., Engel, W., Adham, I.M., Transcription of the Leydig insulin-like gene is mediated by steroidoge-nic factor-1 (1998) Mol Endocrinol, 12 (5), pp. 706-713 | |
dc.description | Lin, L., Achermann, J.C., Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development (2008) Sex Dev, 2 (4-5), pp. 200-209 | |
dc.description | Takayama, K., Sasano, H., Fukaya, T., Morohashi, K., Suzuki, T., Tamu-Ra, M., Immunohistochemical localization of Ad4 binding protein with correlation to steroidogenic enzyme expression in cycling human ovaries and sex cord stromal tumors (1995) J Clin Endocrinol Metab, 80 (9), pp. 2815-2821 | |
dc.description | Parker, K.L., Schimmer, B.P., Steroidogenic factor 1: A key determinant of endocrine development and function (1997) Endocr Rev, 18 (3), pp. 361-377 | |
dc.description | Wong, M., Ramayya, M.S., Chrousos, G.P., Driggers, P.H., Parker, K.L., Cloning and sequence analysis of the human gene encoding steroi-dogenic factor 1 (1996) J Mol Endocrinol, 17 (2), pp. 139-147 | |
dc.description | Oba, K., Yanase, T., Nomura, M., Morohashi, K., Takayanagi, R., Nawata, H., Structural characterization of human Ad4bp (SF-1) gene (1996) Bio-chem Biophys Res Commun, 226 (1), pp. 261-267 | |
dc.description | Little, T.H., Zhang, Y., Matulis, C.K., Weck, J., Zhang, Z., Ramachandran, A., Sequence-specifc deoxyribonucleic acid (DNA) recognition by steroidogenic factor 1: A helix at the carboxy terminus of the DNA binding domain is necessary for complex stability (2006) Mol En-docrinol, 20 (4), pp. 831-843 | |
dc.description | Wilson, T.E., Fahrner, T.J., Milbrandt, J., The orphan receptors NGFI--B and steroidogenic factor 1 establish monomer binding as a third paradigm of nuclear receptor-DNA interaction (1993) Mol Cell Biol, 13 (9), pp. 5794-5804 | |
dc.description | Kimura, R., Yoshii, H., Nomura, M., Kotomura, N., Mukai, T., Ishihara, S., Identifcation of novel frst exons in Ad4BP/SF-1 (NR5A1) gene and their tissue- and species-specifc usage (2000) Biochem Bio-phys Res Commun, 278 (1), pp. 63-71 | |
dc.description | Demura, M., Wang, F., Yoneda, T., Karashima, S., Mori, S., Oe, M., Multiple noncoding exons 1 of nuclear receptors NR4A family (nerve growth factor-induced clone B, Nur-related factor 1 and neuron-derived orphan receptor 1) and NR5A1 (steroidogenic factor 1) in human cardiovascular and adrenal tissues (2011) J Hyper-tens, 29 (6), pp. 1185-1195 | |
dc.description | Wood, M.A., Mukherjee, P., Toocheck, C.A., Walker, W.H., Upstream stimulatory factor induces Nr5a1 and Shbg gene expression during the onset of rat sertoli cell differentiation (2011) Biol Reprod, 85 (5), pp. 965-976. , Epub 2011 Jul 6 | |
dc.description | Hoivik, E.A., Bjanesoy, T.E., Mai, O., Okamoto, S., Minokoshi, Y., Shima, Y., DNA methylation of intronic enhancers directs tissue-speci-fc expression of steroidogenic factor 1/adrenal 4 binding protein (SF-1/Ad4BP) (2011) Endocrinology, 152 (5), pp. 2100-2112 | |
dc.description | Luo, X., Ikeda, Y., Parker, K.L., A cell-specifc nuclear receptor is essential for adrenal and gonadal development and sexual differentiation (1994) Cell, 77, pp. 481-490 | |
dc.description | Sadovsky, Y., Crawford, P.A., Woodson, K.G., Polish, J.A., Clements, M.A., Tourtellotte, L.M., Mice defcient in the orphan receptor ste-roidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids (1995) Proc Natl Acad Sci USA, 92 (24), pp. 10939-10943 | |
dc.description | Achermann, J.C., Ito, M., Hindmarsh, P.C., Jameson, J.L., A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans (1999) Nature Genetics, 22 (2), pp. 125-126 | |
dc.description | Ito, M., Achermann, J.C., Jameson, J.L., A naturally occurring steroi-dogenic factor-1 mutation exhibits differential binding and activation of target genes (2000) J Biol Chem, 275 (41), pp. 31708-31714 | |
dc.description | Achermann, J.C., Ozisik, G., Ito, M., Orun, U.A., Harmanci, K., Gurakan, B., Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic fac-tor-1, in a dose-dependent manner (2002) J Clin Endocrinol Metab, 87 (4), pp. 1829-1833 | |
dc.description | Correa, R.V., Domenice, S., Bingham, N.C., Billerbeck, A.E.C., Rainey, W.E., Parker, K.L., A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insuffciency (2004) J Clin Endocrinol Metab, 89 (4), pp. 1767-1772 | |
dc.description | Mallet, D., Bretones, P., Michel-Calemard, L., Dijoud, F., David, M., Morel, Y., Gonadal dysgenesis without adrenal insuffciency in a 46,XY patient heterozygous for the nonsense C16X mutation: A case of SF1 haploinsuffciency (2004) J Clin Endocrinol Metab, 89, pp. 4829-4832 | |
dc.description | Tajima, T., Fujiwara, F., Fujieda, K.A., Novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure (2009) Endocr J, 56 (4), pp. 619-624 | |
dc.description | Lourenço, D., Brauner, R., Lin, L., de Perdigo, A., Weryha, G., Muresan, M., Mutations in the NR5A1 associated with ovarian insuff-ciency (2009) New Eng J Med, 360 (12), pp. 1200-1210 | |
dc.description | Soardi, F.C., Coeli, F.B., Maciel-Guerra, A.T., Guerra-Júnior, G., De-Mello, M.P., Complete XY gonadal dysgenesis due to p.D293N homo-zygous mutation in the NR5A1 gene: A case study (2010) J Appl Genet, 51 (2), pp. 223-224 | |
dc.description | Ferraz-de-Souza, B., Lin, L., Achermann, J.C., Steroidogenic fac-tor-1 (SF-1, NR5A1) and human disease (2011) Mol Cell Endocrinol, 336 (1-2), pp. 198-205 | |
dc.description | Biason-Lauber, A., Schoenle, E.J., Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insuff-ciency (2000) Am J Hum Genet, 67 (6), pp. 1563-1568 | |
dc.description | Warman, D.M., Costanzo, M., Marino, R., Berensztein, E., Galeano, J., Ramirez, P.C., Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: Within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects (2011) Horm Res Paediatr, 75 (1), pp. 70-77 | |
dc.description | Bashamboo, A., Ferraz-de-Souza, B., Lourenço, D., Lin, L., Sebire, N.J., Montjean, D., Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1 (2010) Am J Hum Genet, 87 (4), pp. 505-512 | |
dc.description | Wuqiang, F., Yanase, T., Wei, L., Oba, K., Nomura, M., Okabe, T., Functional characterization of a new human Ad4BP/SF-1 variation, G146A (2003) Biochem Biophys Res Commun, 311 (4), pp. 987-994 | |
dc.description | Philibert, P., Zenaty, D., Lin, L., Soskin, S., Audran, F., Léger, J., Mu-tational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: A French collaborative study (2007) Hum Reprod, 22 (12), pp. 3255-3261 | |
dc.description | Brauner, R., Neve, M., Allali, S., Trivin, C., Lottmann, H., Bashamboo, A., Clinical, biological and genetic analysis of anorchia in 26 boys (2011) PLoS One, 6 (8), pp. E23292. , Epub 2011 Aug | |
dc.description | Philibert, P., Leprieur, E., Zenaty, D., Thibaud, E., Polak, M., Frances, A.M., Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration (2010) Reprod Biol Endocrinol, 8, p. 28 | |
dc.language | en | |
dc.language | pt | |
dc.publisher | | |
dc.relation | Arquivos Brasileiros de Endocrinologia e Metabologia | |
dc.rights | aberto | |
dc.source | Scopus | |
dc.title | Multifunctional Role Of Steroidogenic Factor 1 And Disorders Of Sex Development [papel Multifuncional Do Fator Esteroidogênico 1 E As Doenças Do Desenvolvimento Sexual] | |
dc.type | Artículos de revistas | |