R01 HD39322/HD/NICHD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2000	1
2001	5
2002	2
2003	1
2004	3
2005	1
2006	4
2007	1
2009	1
2025	0

1

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.

Phelan JK, McCabe ER. Phelan JK, et al. Hum Mutat. 2001 Dec;18(6):472-87. doi: 10.1002/humu.1225. Hum Mutat. 2001. PMID: 11748841 Review.

2

DAX1 origin, function, and novel role.

Niakan KK, McCabe ER. Niakan KK, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):70-83. doi: 10.1016/j.ymgme.2005.07.019. Mol Genet Metab. 2005. PMID: 16146703 Review.

3

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease.

Dipple KM, Phelan JK, McCabe ER. Dipple KM, et al. Mol Genet Metab. 2001 Sep-Oct;74(1-2):45-50. doi: 10.1006/mgme.2001.3227. Mol Genet Metab. 2001. PMID: 11592802 Review. No abstract available.

4

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.

Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM. Zhang YH, et al. Pediatr Res. 2006 Apr;59(4 Pt 1):590-2. doi: 10.1203/01.pdr.0000203092.83074.eb. Pediatr Res. 2006. PMID: 16549535

5

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK. Zhang YH, et al. Hum Mutat. 2001 Dec;18(6):547. doi: 10.1002/humu.1236. Hum Mutat. 2001. PMID: 11748852

6

Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis.

Niakan KK, Davis EC, Clipsham RC, Jiang M, Dehart DB, Sulik KK, McCabe ER. Niakan KK, et al. Mol Genet Metab. 2006 Jul;88(3):261-71. doi: 10.1016/j.ymgme.2005.12.010. Epub 2006 Feb 8. Mol Genet Metab. 2006. PMID: 16466956

7

DAX1 and its network partners: exploring complexity in development.

Clipsham R, McCabe ER. Clipsham R, et al. Mol Genet Metab. 2003 Sep-Oct;80(1-2):81-120. doi: 10.1016/j.ymgme.2003.08.023. Mol Genet Metab. 2003. PMID: 14567960 Review.

8

LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.

Iyer AK, Zhang YH, McCabe ER. Iyer AK, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):151-9. doi: 10.1016/j.ymgme.2007.06.009. Epub 2007 Aug 7. Mol Genet Metab. 2007. PMID: 17686645 Free PMC article.

9

Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers.

Iyer AK, Zhang YH, McCabe ER. Iyer AK, et al. Mol Endocrinol. 2006 Oct;20(10):2326-42. doi: 10.1210/me.2005-0383. Epub 2006 May 18. Mol Endocrinol. 2006. PMID: 16709599

10

Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis.

Clipsham R, Niakan K, McCabe ER. Clipsham R, et al. Gene Expr Patterns. 2004 Jan;4(1):3-14. doi: 10.1016/j.modgep.2003.08.004. Gene Expr Patterns. 2004. PMID: 14678822

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