| 1 | DNASE1L3, ENAM, FRMPD2, HIKESHI, MAP6D1, NR3C2, PLEKHA9, SMPD4
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| Gene expression-based biomarkers for discriminating early and late stage of clear cell renal cancer
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| Bhalla S, Chaudhary K, Kumar R, Sehgal M, Kaur H, Sharma S, Raghava GP
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| Sci Rep. Mar 28;7:44997. doi: 10.1038/srep44997. 2017
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| 2 | GEMIN4, NR3C2
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| GEMIN4 functions as a coregulator of the mineralocorticoid receptor.
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| Yang J, Fuller PJ, Morgan J, Shibata H, Clyne CD, Young MJ.
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| J Mol Endocrinol. Apr;54(2):149-60. doi: 10.1530/JME-14-0078. Epub 2015 Jan 2. 2015
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| 3 | CASR, KCNJ1, NR3C2, SCNN1G, SNN1B
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| Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population.
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| Tobin MD, Tomaszewski M, Braund PS, Hajat C, Raleigh SM, Palmer TM, Caulfield M, Burton PR, Samani NJ.
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| Hypertension 51(6):1658-64. Epub 2008 Apr 28.
2008
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| 4 | NR3C2, PHA1A2
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| Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.
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| Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC.
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| Hum Mutat 28(1):33-40. 2007
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| 5 | NR3C2, PHA1A2
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| Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.
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| Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grötzinger J, Sippell WG, Fejes-Toth G, Krone N.
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| J Clin Endocrinol Metab 91(11):4552-61. Epub 2006 Sep 5.
2006
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| 6 | CYPHB1, CYPHB2, NR3C2, HSD11B2, SCNN1B, SCNN1G, PSALD, PHA2C, WNK1, PHA2B, WNK4, DIDAN, PPARG, MTHHH, MT-TI
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| The genetic dissection of essential hypertension.
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| Cowley AW Jr.
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| Nat Rev Genet 7(11):829-40. Epub 2006 Oct 10. Review. 2006
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| 7 | FMR1, NR3C2, PHA1A2
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| Methylation regulates the intracellular protein-protein and protein-RNA interactions of FMRP.
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| Dolzhanskaya N, Merz G, Aletta JM, Denman RB.
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| J Cell Sci 119(Pt 9):1933-46. 2006
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| 8 | NR3C2, PHA1A2
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| Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.
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| Fernandes-Rosa FL, de Castro M, Latronico AC, Sippell WG, Riepe FG, Antonini SR.
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| J Clin Endocrinol Metab 91(9):3671-5. Epub 2006 Jun 6. 2006
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| 9 | NR3C2
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| Identification of the mineralocorticoid receptor in human spermatozoa.
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| Fiore C, Sticchi D, Pellati D, Forzan S, Bonanni G, Bertoldo A, Massironi M, Cal˜ L, Fassina A, Rossi GP, Armanini D.
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| Int J Mol Med 18(4):649-52. 2006
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| 10 | PHA1A2, NR3C2
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| Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene.
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| Riepe FG, Krone N, Morlot M, Peter M, Sippell WG, Partsch CJ.
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| J Clin Endocrinol Metab 89(5):2150-2. 2004
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| 11 | NR3C2, PHA1A2
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| Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds.
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| Viemann M, Peter M, Lopez-Siguero JP, Simic-Schleicher G, Sippell WG.
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| J Clin Endocrinol Metab 86(5):2056-9. 2001
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| 12 | NR3C2
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| Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.
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| Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP.
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| Science 289(5476):119-23. 2000
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| 13 | NR3C2, PHA1A2
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| Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.
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| Geller DS, et al.
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| Nat Genet 19 : 279-281. 1998
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| 14 | NR3C2
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| The human mineralocorticoid receptor gene promoter : its structure and expression.
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| Listwak SJ, et al.
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| J Steroid Biochem Mol Biol 58 : 495-506. 1996
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| 15 | NR3C2
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| Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis.
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| Chung E, et al.
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| J Clin Endocrinol Metab 80 : 3341-3345. 1995
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| 16 | NR3C2
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| Molecular characterization of the mineralocorticoid receptor in pseudohypoaldosteronism.
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| Zennaro MC, et al.
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| Steroids 60 : 164-167. 1995
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| 17 | NR3C2
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| Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.
|
| Hanukoglu A.
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| J Clin Endocrinol Metab 73 : 936-944. 1991
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| 18 | NR3C2
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| Regional chromosomal assignment of the human mineralocorticoid receptor gene to 4q31.1.
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| Morrison N, et al.
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| Hum Genet 85 : 130-132. 1990
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| 19 | NR3C2
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| Assignment of human mineralocorticoid receptor (MLR) to human chromosome 4q31.2.
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| Fan YS, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 996. 1989
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| 20 | NR3C2
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| The human mineralocorticoid receptor gene (MLR) is located on chromosome 4 at q31.2.
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| Fan YS, et al.
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| Cytogenet Cell Genet 52 : 83-84. 1989
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| 21 | NR3C2
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| Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism.
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| Wehling M, et al.
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| Clin Endocrinol 31 : 597-605. 1989
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| 22 | NR3C2
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| Cloning of human mineralocorticoid receptor complementary DNA : structural and functional kinship with the glucocorticoid receptor.
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| Arriza JL, et al.
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| Science 237 : 268-275. 1987
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| 23 | NR3C2
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| Aldosterone-receptor deficiency in pseudo-hypoaldosteronism.
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| Armanini D, et al.
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| N Engl J Med 313 : 1178-1181. 1985
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| 24 | NR3C2
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| Familial dominant pseudohypoaldosteronism.
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| Limal JM, et al.
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| Lancet I : 51. 1978
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| 25 | NR3C2
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| PseudohypoaldostŽronisme familial.
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| Roy C.
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| Arch Fr Pediatr 34 : 37-54. 1977
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| 26 | NR3C2
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| Pseudo-hypoaldostŽronisme.
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| Royer P, et al.
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| Ann Pediatr 54 : 2612-2621. 1963
|