Keywords: DSD; Ambiguous genitalia; SRY; SOX9; NR5A1; Genetic counseling
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: A2M; alpha-2-macroglobulin; AMACR; alpha-methylacyl-CoA racemase; APOA1; apolipoprotein A-I; AR; androgen receptor; BCL2L1; BCL2-like 1; CAT; catalase; CCNA2; cyclin A2; CCND2; cyclin D2; CCNE1; cyclin E1; CEL; carboxyl ester lipase (bile salt-stimulated
Steroidogenic factor-1 inverse agonists as a treatment option for canine hypercortisolism: in vitro study
Keywords: Cushing's syndrome; NR5A1; Ad4BP; ACTH; Pituitary; Adrenal;
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations
Keywords: Disorders of sex development (DSD); NR5A1; orphan receptor; steroidogenic factor 1; SF-1;
Mutation -388 C>G of NR5A1 gene affects litter size and promoter activity in sheep
Keywords: Hu sheep; NR5A1; Core promoter; SNP; CpG site; SP1;
Transcriptome analysis identifies genes involved in sex determination and development of Xenopus laevis gonads
Keywords: Amh; Anti-Müllerian hormone; Bmp4; Bone morphogenetic protein 4; Dax1; Dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1; Dhh; Desert hedgehog; Dmrt1; Doublesex and mab-3 related transcription factor 1; DM-W; W-li
A homologue of Nr5a1 activates cyp19a1a transcription additively with Nr5a2 in ovarian follicular cells of the orange-spotted grouper
Keywords: Orange-spotted grouper Epinephelus coioides; Ovary; Nr5a1; Nr5a2; Cyp19a1a;
Transcription factors SF1 and cJUN cooperate to activate the Fdx1 promoter in MA-10 Leydig cells
Keywords: Steroidogenesis; Fdx1; cJUN; AP1; SF1; NR5A1; Leydig cells;
Characterization and expression of StAR2a and StAR2b in the olive flounder Paralichthys olivaceus
Keywords: StAR2; steroidogenic acute regulatory protein 2; qPCR; quantitative real-time PCR; cAMP; cyclic adenosine 3â²,5â²-monophosphate; NR5a1; Nuclear Receptor Subfamily 5 Group a Member 1; NR5a2; Nuclear Receptor Subfamily 5 Group a Member 2; NR0b1; Nuclear R
Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations
Keywords: NR5A1; cryptorchidism; male infertility; spermatogenesis; testicular descent;
Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene
Keywords: XY sex reversal; Gonadal dysgenesis; SOX9; SRY; NR5A1;
A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis
Keywords: SRY; Sex-determining Region of Y chromosome; RSPO1; R-spondin 1; SOX9; SRY (sex determining region Y)-box 9; NR5A1; nuclear receptor subfamily 5, group A, member 1; WT1; Wilms tumor 1; NROB1; nuclear receptor subfamily 0, group B, member 1; WNT4; wingless
POD-1 binding to the E-box sequence inhibits SF-1 and StAR expression in human adrenocortical tumor cells
Keywords: POD-1; TCF21; NR5A1; SF-1; E-box; Human adrenocortical tumor cells;
Expression and roles of steroidogenic acute regulatory (StAR) protein in 'non-classical', extra-adrenal and extra-gonadal cells and tissues
Keywords: OMM; outer mitochondrial membrane; IMM; inner mitochondrial membranes; TSPO; translocator protein; VDAC; voltage dependent anion channel; CNS; central nervous system; SR-BI; class-B type-I scavenger receptor; PTII; type II pneumonocytes; CCHCR1; Coiled-Co
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1
Keywords: NR5A1; SF1; 46,XY disorder of sex development; 46,XY DSD; 9q33 Microdeletion
Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)
Keywords: Primary ovarian insufficiency; POI; steroidogenic factor 1; SF-1; NR5A1;
Steroidogenic factor-1 (SF-1, NR5A1) and human disease
Keywords: ACT; adrenocortical tumor; AMH; anti-Müllerian hormone (also known as Müllerian-inhibiting substance); DBD; DNA-binding domain; DSD; disorders of sex development; LBD; ligand-binding domain; POI; primary ovarian insufficiency; Steroidogenic factor-1 (SF
NR5A1/SF-1 and development and function of the ovary
Keywords: Insuffisance ovarienne prématurée; Caryotype; NR5A1Primary ovarian insufficiency; DSD; NR5A1
Molecular aspects of steroidogenic factor 1 (SF-1)
Keywords: Steroidogenic factor 1; SF1; SF-1; NR5A1; Ad4BP; FTZ-F1; Steroidogenesis
A unique 970 kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female
Keywords: XY sex reversal; Prominent clitoris; Disorders of sex development (DSD); Steroidogenic Factor-1 (SF-1); NR5A1; Deletion 9q33.3; Array CGH
Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice
Keywords: Isl1; Sf1; NR5A1; Notch2; Tpit; Neurod1; Tle3; Pitx1; Pitx2; LIM3; P-LIM
Expression of steroidogenic factors 1 and 2 in normal human pancreas
Keywords: Normal human pancreas; Orphan nuclear receptors; Steroidogenic factor-1 (SF-1); Steroidogenic factor-2 (SF-2); Steroidogenesis; NR5A1; NR5A2
A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female
Keywords: DAX1; NR0B1; AHC; NHR; SF1; NR5A1; Adrenal development