Selected Publications
[Selected Publications]
002. Malt RA, Miller WL. Sequential changes in classes of RNA during compensatory renal hypertrophy. J. Exp. Med. 126: 1-13, 1967.
004. Vancura P, Miller WL, Little JW, Malt RA. Contribution of glomerular and tubular RNA synthesis to compensatory growth of kidney. Am. J. Physiol. 219: 78-83, 1970.
010. Miller WL, McCarthy, BJ. Gene expression in normal and regenerating mouse kidney. J. Biol. Chem. 254: 742-748, 1979.
014. Miller WL, Kaplan SL, Grumbach MM. Child abuse as a cause of post-traumatic hypopituitarism. N. Engl. J. Med. 302: 724-728, 1980.
016. Miller WL, Martial JA, Baxter JD. Molecular cloning of DNA complementary to bovine growth hormone mRNA. J. Biol. Chem. 255: 7521-7524, 1980.
017. Miller WL, Thirion, JP, Martial JA. Cloning of DNA complementary to bovine prolactin mRNA. Endocrinology 107: 851-854, 1980.
018. Miller WL, Johnson LK, Baxter JD, Roberts JL. Processing of the precursor to corticotropin and ß-lipotropin in man. Proc. Natl. Acad. Sci. USA 77: 5211-5215, 1980.
022. Miller WL, Baxter JD, Martial JA. Cloning of bovine prolactin cDNA and evolutionary implications of its sequence. DNA 1: 37-50, 1981.
029. Miller WL, Eberhardt, NL. Structure and evolution of the growth hormone gene family. Endocrin. Rev. 4: 97-130, 1983.
040. Chung B, Matteson KJ, Miller WL. Cloning and characterization of the bovine gene for steroid 21-hydroxylase (P-450c21). DNA 4: 211-219, 1985.
041. Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL. Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22 desmolase) in a patient treated for 18 years. Clin. Endocrinol. 23: 481-493, 1985.
042. Matteson KJ, Chung B, Urdea MS, Miller WL. Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequenceP450sc oligodeoxyribonucleotide probes. Endocrinology 118: 1296-1305, 1986.
044. Chung B, Matteson KJ, Miller WL. Structure of a bovine gene for P450c21 (steroid 21 hydroxylase) defines a novel cytochrome P450 gene family. Proc. Natl. Acad. Sci. USA 83: 4243-4247, 1986.
045. Voutilainen R, Tapanainen J, Chung B, Matteson KJ, Miller WL. Hormonal regulation of P450scc (20,22 desmolase) and P450c17 (17a-hydroxylase/17,20 lyase) in cultured human granulosa cells. J. Clin. Endocrinol. Metab. 63: 202-207, 1986.
048. Chung B, Matteson KJ, Voutilainen R, Mohandas TK, Miller WL. Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome l5, and expression in the placenta. Proc. Natl. Acad. Sci. USA 83: 8962-8966, 1986.
049. Chung B, Picado-Leonard J, Haniu M, Bienkowski M, Hall PF, Shively JE, Miller WL. Cytochrome P450c17 (steroid 17a-hydroxylase/17,20 lyase): Cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc. Natl. Acad. Sci. USA 84: 407-411, 1987.
050. Voutilainen R, Miller WL. Coordinate tropic hormone regulation of mRNAs for insulin-like growth factor II and the cholesterol side-chain cleavage enzyme, P450scc, in human steroidogenic tissues. Proc. Natl. Acad. Sci. USA 84: 1590-1594, 1987.
057. Matteson KJ, Phillips JA III, Miller WL, Chung B,
058. Golos TG, Miller WL, Strauss JF III. Human chorionic gonadotropin and 8-bromo cyclic AMP promote an acute increase in cytochrome P450scc and adrenodoxin mRNAs in cultured human granulosa cells by a cycloheximide-insensitive mechanism. J. Clin. Invest. 80: 896-899, 1987.
060. Picado-Leonard J, Miller WL. Cloning and sequence of the human gene encoding P450cl7 (steroid 17a-hydroxylase/17,20 lyase): Similarity to the gene for P450c21. DNA 6: 439-448, 1987.
070. Picado-Leonard J, Voutilainen R, Kao L, Chung B, Strauss JF III, Miller WL. Human adrenodoxin: Cloning of three cDNAs and cycloheximide enhancement in JEG-3 cells. J. Biol. Chem. 263: 3240-3244, corrected, p 11016, 1988.
074. Miller WL. Molecular biology of steroid hormone synthesis. Endocrin. Rev. 9: 295-318, 1988.
075. Solish SB, Picado-Leonard J, Morel Y, Kuhn RW, Mohandas TK, Hanukoglu I, Miller WL. Human adrenodoxin reductase: Two mRNAs encoded by a single gene on chromosome 17cenq25 are expressed in steroidogenic tissues. Proc. Natl. Acad. Sci. USA 85: 7104-7108, 1988.
083. Morel Y, Andre J, Uring-Lambert B, Hauptmann
G, Betuel H, Tosi M, Forest
MG, David M, Bertrand J, Miller WL. Rearrangements and point mutations of
P450c2l genes are distinguished by five restriction endonuclease
haplotypes identified by a new probing strategy in 57
families with congenital adrenal hyperplasia. J. Clin. Invest. 83: 527-536, 1989.
089. Morel Y, Bristow J, Gitelman SE, Miller WL. Transcript encoded on the opposite strand of the human steroid 2l-hydroxylase/complement component C4 gene locus. Proc. Natl. Acad. Sci. USA 86: 6582-6586, 1989.
090. Mellon SH, Miller WL. Extra-adrenal steroid 21-hydroxylation is not mediated by P450c21. J. Clin. Invest. 84:1497-1502, 1989.
092. Tremblay Y, Ringler GE, Morel Y, Mohandas TK, Labrie F, Strauss JF III, Miller WL. Regulation of the gene for estrogenic 17-ketosteroid reductase lying on chromosome 17cenq25. J. Biol. Chem. 264: 20458-20462, 1989.
093. Miller WL, Morel Y. Molecular genetics of 2l-hydroxylase deficiency. Ann. Rev. Genet. 23: 371-393, 1989.
097.
098. Lin D, Shi Y, Miller WL. Cloning and sequence of the human adrenodoxin reductase gene. Proc. Natl. Acad. Sci. USA 87: 8516-8520, 1990.
100. Townsend S, Dallman MF, Miller WL. Rat insulin-like growth factor -I and -II mRNAs are unchanged during compensatory adrenal growth but decrease during ACTH-induced adrenal growth. J. Biol. Chem. 265: 22117-22122, 1990.
109. Lin D, Harikrishna JA, Moore CCD, Jones KL, Miller WL. Missense mutation Serine106→Proline causes 17a-hydroxylase deficiency. J. Biol. Chem. 266: 15992-15998, 1991.
111. Morel Y, Miller WL. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv. Hum. Genet. 20: 1-68, 1991.
114. Lin D, Gitelman SE, Saenger P, Miller WL. Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. J. Clin. Invest. 88: 1955-1962, 1991.
117. Gitelman SE, Bristow J, Miller WL. Mechanism and consequences of the duplication of the human C4/P450c21/Gene X locus. Mol. Cell Biol. 12: 2124-2134, 1992.
122.
125. Hum DW, Staels B, Black SM, Miller WL. Basal transcriptional activity and cyclic adenosine 3',5'-monophosphate responsiveness of the human cytochrome P450scc promoter transfected into mouse Leydig MA-10 cells. Endocrinology 132: 546-552, 1993.
128. Staels B, Hum DW, Miller WL. Regulation of steroidogenesis in NCI-H295 cells: A cellular model of the human fetal adrenal. Mol. Endocrinol. 7: 423-433, 1993.
130. Lin D, Black SM, Nagahama Y, Miller WL. Steroid 17a-hydroxylase and 17,20 lyase activities of P450c17: Contributions of Serine106 and of P450 reductase. Endocrinology 132: 2498-2506, 1993.
131. Bristow J, Gitelman SE, Tee MK, Staels B, Miller WL. Abundant adrenal-specific transcription of the human P450c21A "pseudogene." J. Biol. Chem. 268: 12919-12924, 1993.
132. Harikrishna JA, Black SM, Szklarz GD, Miller WL. Construction and function of fusion enzymes of the human cytochrome P450scc system. DNA Cell Biol. 12: 371-379, 1993.
134.
135. Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL. Tenascin-X. A novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J. Cell Biol. 122: 265-278, 1993.
139. Lin D, Chang YJ, Strauss JFIII, Miller WL. The human peripheral benzodiazepine receptor gene. Cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia. Genomics 18: 643-650, 1993.
140. Mellon SH, Miller WL, Bair S,
142. Lin D, Zhang L, Chiao E, Miller WL. Modeling and mutagenesis of the active site of human P450c17. Mol. Endocrinol. 8: 392-402, 1994.
144. Black SM, Harikrishna JA, Szklarz GD, Miller WL. The mitochondrial environment is required for activity of the cholesterol side-chain cleavage enzyme, cytochrome P450scc. Proc. Natl. Acad. Sci. USA 91: 7247-7251, 1994.
145. Miller WL, Tyrell JB. The adrenal cortex. In: Endocrinology and Metabolism. 3rd ed. P Felig, JD Baxter and L Frohman (eds) New York: McGraw Hill, pp. 555-711, 1995.
148. Lin D, Sugawara T, Strauss JF III, Clark BJ, Stocco DM, Saenger P, Rogol A, Miller WL. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 267: 1828-1831, 1995.
150. Hum DW, Aza-Blanc P, Miller WL. Characterization of placental-specific transcription of the human gene forP450scc. DNA Cell Biol. 14: 451-463, 1995.
152. Tee MK, Thomson AA, Bristow J, Miller WL. Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of Tenascin-X. Genomics 28: 171-178, 1995.
154. Zhang L, Rodriguez H, Ohno S, Miller WL. Serine phosphorylation of human P450c17 increases 17,20 lyase activity: Implications for adrenarche and for the polycystic ovary syndrome. Proc. Natl. Acad. Sci. USA 92: 10619-10623, 1995.
155. Tee MK, Babalola GO, Aza-Blanc P, Speek M, Gitelman SE, Miller WL. A promoter within intron 35 of the human C4A gene initiates adrenal-specific transcription of a 1kb RNA: location of a cryptic CYP21 promoter element? Hum. Mol. Genet. 4: 2109-2116, 1995.
156. Zhang G, Rodriguez H, Fardella CE, Harris DA, Miller WL. Mutation T318M in P450c11AS causes corticosterone methyl oxidase II deficiency. Am. J. Hum. Genet. 57: 1037-1043, 1995.
157. Speek M, Miller WL. Hybridization of complementary mRNAs for (P450c21 steroid 21 hydroxylase) and Tenascin-X is prevented by sequence-specific binding of nuclear proteins. Mol. Endocrinol. 9: 1655-1665, 1995.
158. Tee MK, Lin D, Sugawara T, Holt JA, Guiguen Y, Buckingham B, Strauss JF III, Miller WL. T→A transversion 11 bp from a splice acceptor site in the gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. Hum. Mol. Genet. 4: 2299-2305, 1995.
164. Fardella CE, Miller WL. Molecular biology of mineralocorticoid metabolism. Ann. Rev. Nutrition 16: 443-470, 1996.
167. Dilworth FJ, Black SM, Guo YD, Miller WL, Jones G. Construction of a P450c27 fusion enzyme – a useful tool for analysis of vitamin D3-25-hydroxylase activity. Biochem. J. 320: 267-271, 1996.
168. Speek M, Barry F, Miller WL. Alternate promoters and alternate splicing of human Tenascin X, a gene with 5' and 3' ends buried in other genes. Hum. Mol. Genet. 5: 1749 1758, 1996.
169. Arakane F, Sugawara T, Nishino H, Liu Z, Holt JA, Pain D, Stocco DM, Miller WL, Strauss JF III. Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial targeting sequence: Implications for the mechanism of StAR action. Proc. Natl. Acad. Sci. USA. 93: 13731-13736, 1996.
171. Bose HS, Sugawara T, Strauss JF III, Miller WL. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. New Engl. J. Med. 335: 1870-1878, 1996.
173. Miller WL, Auchus RJ, Geller DH. The regulation of 17,20 lyase activity. Steroids 62: 133-142, 1997.
174. Rodriguez H, Hum DW, Staels B, Miller WL. Transcription of the human genes for P450scc and P450c17 is regulated differently in human adrenal NCI-H295 cells than in mouse adrenal Y1cells. J. Clin. Endocrinol. Metab. 82: 365-371, 1997.
175. Seckl JR, Miller WL. How safe is long-term prenatal glucocorticoid treatment? J. Am. Med. Assn. 277: 1077-1079, 1997.
178. Bose HS, Pescovitz OH, Miller WL. Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frame-shift mutation in the steroidogenic acute regulatory protein. J. Clin. Endocrinol. Metab. 82: 1511-1515, 1997.
179. Burch GH, Gong Y, Liu W, Dettman R, Curry CJ, Smith L, Miller WL, Bristow J. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat. Genet. 17: 104-108, 1997.
182. Geller DH, Auchus RJ, Mendonça BB, Miller WL. The genetic and functional basis of isolated 17,20 lyase deficiency. Nat. Genet. 17: 201-205, 1997.
184. Miller WL. Congenital lipoid adrenal hyperplasia: The human gene knockout of the steroidogenic acute regulatory protein. J. Mol. Endocrinol. 19: 227-240, 1997.
185. Fu GK, Lin D, Zhang MYH, Bikle DD, Shackleton CHL, Miller WL, Portale AA. Cloning of human 25-hydroxyvitamin D 1a-hydroxylase and mutations causing vitamin D-dependent rickets type I. Mol. Endocrinol. 11: 1961-1970, 1997.
186. Fu GK, Portale AA, Miller WL. Complete structure of the human gene for the vitamin D1α-hydroxylase, P450clα. DNA Cell Biol. 16: 1499-1507, 1997.
191. Auchus RJ, Lee TC, Miller WL. Cytochrome b5 augments the 17,20 lyase activity of human P450c17 without direct electron transfer. J. Biol. Chem. 273: 3158-3165, 1998.
194. Bose WS, Baldwin MA, Miller WL. Incorrect folding of steroidogenic acute regulatory protein (StAR) in congenital lipoid adrenal hyperplasia. Biochemistry 37: 9768-9775, 1998.
201. Wang JT, Lin CJ, Burridge SM, Fu GK, Labuda M, Portale AA, Miller WL. Genetics of vitamin D la-hydroxylase deficiency in 17 families. Am. J. Hum. Genet. 68: 1694-1702, 1998.
206. Geller DH, Auchus RJ, Miller WL. P450c17 mutations R347H and R358Q selectively disrupt 17,20 lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5. Mol. Endocrinol. 13: 167-175, 1999.
207. Lee TC, Miller WL, Auchus RJ. Medroxyprogesterone acetate and dexamethasone are competitive inhibitors of different human steroidogenic enzymes. J. Clin. Endocrinol. Metab. 84: 2104-2110, 1999.
209. Bose HS, Whittal RM, Baldwin MA, Miller WL. The active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule. Proc. Natl. Acad. Sci. USA 96: 7250-7255, 1999.
210. Auchus RJ, Miller WL. Molecular modeling of human P450c17 (17a-hydroxylase/17,20 lyase): insights into reaction mechanisms and effects of mutations. Mol. Endocrinol. 13: 1169-1182, 1999.
216. Wijesuriya SD, Zhang G, Dardis A, Miller WL. Transcriptional regulatory elements of the human gene for cytochrome P450c21 (steroid 21-hydroxylase) lie within intron 35 of the linked C4B gene. J. Biol. Chem. 274: 38097-38106, 1999.
217. Huang N, Miller WL. Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental expression of the cholesterol side-chain cleavage enzyme, P450scc. J. Biol. Chem. 275: 2852-2858, 2000.
221. Bose HS, Whittal RM, Huang MC, Baldwin MA, Miller WL. N-218 MLN64, a protein with StAR-like steroidogenic activity is folded and cleaved similarly to StAR. Biochemistry 39: 11722-11731, 2000.
222. Miller WL, Portale AA. Vitamin D 1α-hydroxylase. Trends Endocrinol. Metab. 11: 315-319, 2000.
225. Bose HS, Sato S, Aisenberg J, Shalev SA, Matsuo N, Miller WL. Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. J. Clin. Endocrinol. Metab. 85: 3636-3639, 2000.
226. Martens JWM, Geller DH, Arlt W, Auchus RJ, Ossovskaya VS, Rodriguez H, Dunaif A, Miller WL. Enzymatic activities of P450c17 stably expressed in fibroblasts from patients with the polycystic ovary syndrome. J. Clin. Endocrinol. Metab. 85: 4338-4346, 2000.
231. Auchus RJ, Miller WL. The principles,
pathways, and enzymes of human steroidogenesis. In: Endocrinology, 4th Edition, LJ DeGroot and JL Jameson, (eds).
233. Lam CW, Arlt W, Chan CK, Honour JW, Lin CJ, Tong SF, Choy KW, Miller WL. Mutation of proline 409 to arginine in the meander region of cytochrome P450c17 causes severe 17a-hydroxylase deficiency. Mol. Genet. Metab. 72: 254-259, 2001.
234. Miller WL, Chrousos GP. The
Adrenal Cortex. In Endocrinology
and Metabolism 4th Edition. P Felig
and L Frohman (eds)
235. Song M, Shao H, Mujeeb A, James TL, Miller WL. Molten globule structure and membrane binding of the N-terminal protease-resistant domain (63-193) of the steroidogenic acute regulatory protein (StAR). Biochem. J. 356: 151-158, 2001.
236. Arlt W, Auchus RJ, Miller WL. Thiazolidinediones but not metformin directly inhibit the steroidogenic enzymes P450c17 and 3b-hydroxysteroid dehydrogenase. J. Biol. Chem. 276: 16767-16771, 2001.
237. Christinsen K, Bose HS, Harris FM,
Miller WL,
238. Huang MC, Miller WL. Creation and activity of COS-1 cells stably expressing the F2 fusion of the human cholesterol side-chain cleavage enzyme system. Endocrinology 142: 2569-2576, 2001.
240. Miller WL. The adrenal cortex and its disorders. In Clinical Paediatric
Endocrinology. 4th Edition. CDG Brook and P Hindmarsh
(eds)
241. Lin CJ, Martens JWM, Miller WL. NF-1c, Sp 1 and Sp 3 essential for transcription of the human gene for P450c17 (steroid 17 a-hydroxylase/17,20 lyase) in human adrenal NCI-H295A cells. Mol. Endocrinol. 15: 1277-1293, 2001.
242. Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL. Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 45 XY sex reversal and adrenal insufficiency. J. Clin. Endocrinol. Metab. 86: 3820-3825, 2001.
243. Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, von Vlijmen IM, von Haren B, Miller WL, Bristow J. A recessive form of Ehlers-Danlos syndrome caused by Tenascin-X deficiency. New Engl. J. Med. 345: 1167-1175, 2001.
244. Zhang MYH, Wang XM, Wang JT, Compagnone
N, Mellon SH, Olson J, Tennenhouse S, Miller WL,
Portale AA. Dietary phosphorous transcriptionally
regulates 25-hydroxyvitamin D 1a-hydroxylase gene expression in
the proximal renal tubule. Endocrinology
143: 587-595, 2002
249. Bose, HS, Lingappa VR, Miller WL.
Rapid regulation of steroidogenesis by mitochondrial protein import. Nature
417: 87-91, 2002
250. Wang XM, Zhang MYH, Miller WL, Portale AA. Novel mutations in
patients with 1a-hydroxylase
deficiency that confer partial enzyme activity in vitro. J. Clin. Endocrinol.
Metab. 87: 2424-2430, 2002
253. Miller WL. The Adrenal Cortex. In Pediatric Endocrinology, 2nd Edition. MA Sperling (ed)
256. Joint LWPES/ESPE CAH Working Group (Writing Committee: Clayton
PE, Miller WL, Oberfield SE, Ritzén
EM, Sippell WG, Speiser
PW.) Consensus statement on 21-hydroxylase deficiency from The Lawson Wilkins
Pediatric Endocrine Society and The European Society for Paediatric
Endocrinology. J. Clin. Endocrinol. Metab. 87: 4048-4053, 2002.
257. Flück
CE, Martens JWM, Conte FA, Miller WL. Clinical, genetic and functional
characterization of ACTH receptor mutations using a novel receptor assay. J. Clin. Endocrinol. Metab. 87:
4318-4323, 2002.
259. Xie
ZJ, Munson SJ, Huang N, Portale AA, Miller WL, Bikle
DD. The mechanism of 1, 25-dihydroxyvitamin D3 auto-regulation in keratinocytes. J.
Biol. Chem. 277: 36987-36990, 2002.
260. Wijesuriya SD, Bristow J, Miller WL.
Localization and analysis of the principal promoter for human Tenascin-X. Genomics
80: 443-452, 2002.
261. Miller WL. Disorders of androgen biosynthesis. Sem. Reprod. Med.
20: 205-215, 2002.
262. Arlt W, Martens JWM, Song M, Wang JT, Auchus RJ, Miller WL. Molecular evolution of adrenarche:
Structural and functional analysis of P450c17 from four primate species. Endocrinology
143: 4665-4672, 2002.
263. Tuckey RC, Headlam
MJ, Bose HS, Miller WL. Transfer of cholesterol between phospholipid vesicles
mediated by the steroidogenic acute regulatory protein (StAR). J. Biol. Chem. 277: 47123-47128, 2002.
267. Rao RM, Jo Y, Leers-Sucheta S, Bose HS, Miller WL, Azhar
S, Stocco DM. Differential regulation of
steroid hormone biosynthesis in R2C and MA-10 Leydig tumor cells: Role of SR-B1-mediated selective cholesteryl ester transport. Biol. Reprod. 68: 114-121, 2003.
268. Pandey AV, Mellon SH, Miller WL.
Protein phosphatase 2A and phosphoprotein
SET regulate androgen production by P450c17. J. Biol. Chem. 278: 2837-2844, 2003.
271. Flück
CE, Miller WL, Auchus RJ. The 17,20 lyase activity
of cytochrome P450c17 from human fetal testis favors the ∆5 steroidogenic pathway. J. Clin. Endocrinol. Metab. 88:
3762-3766, 2003.
274. Dardis A, Miller WL. Dexamethasone does not exert direct intracellular feedback on steroidogenesis, in human adrenal NCI-H295A cells. J. Endocrinol. 179: 131-137, 2003.
275. Lin CJ, Dardis A, Wijesuriya
SD, Abdullah MA, Casella SJ, Miller WL. Lack of mutations in CYP2D6 and CYP27
in patients with apparent deficiency of vitamin D 25-hydroxylase. Mol. Genet. Metab.
80: 469-472, 2003.
279. Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat. Genet. 36: 228-230, 2004.
280. Tuckey RC, Bose HS, Czerwionka I, Miller WL. Molten globule structure and
steroidogenic activity of N-218 MLN64 in human placental mitochondria. Endocrinology 145: 1700-1707, 2004.
283. Arlt W, Neogi P, Gross C, Miller WL. Cinnamic acid based thiazolidinediones inhibit human P450c17 and 3b-hydroxysteroid dehydrogenase, and improve insulin sensitivity independent of PPARg agonist activity. J. Mol. Endocrinol. 32: 425-436, 2004.
284. Flück CE, Miller WL. GATA-4 and GATA-6
modulate tissue specific transcription of the human gene for P450c17. Mol. Endocrinol.
18:1144-1157, 2004.
285. Holms NM, Miller WL, Baskin LS. Lack of defects in androgen
production in children with hypospadias. J.
Clin. Endocrinol. Metab. 89: 2811-2816, 2004.
286. Gassner HL, Toppari,
J, Quinteiro-Gonzalez S, Miller WL. Near-miss
apparent SIDS from adrenal crisis. J. Pediatr. 145: 178-183, 2004.
287. Miller WL. P450 oxidoreductase deficiency. A new disorder of
steroidogenesis with multiple clinical manifestations. Trends Endo. Metab. 15: 311-315,
2004.
291. Yaworsky DC, Baker BY, Bose HS, Best
KB, Jensen LB, Bell JD, Baldwin MA, Miller WL. pH-dependent interaction of the
carboxyl-terminal helix of steroidogenic acute regulatory protein with
synthetic membranes. J. Biol. Chem.
280: 2045-2054, 2005.
292. Huang N, Miller WL. LBP proteins mediate SF1-independent
expression of P450scc in human placental JEG-3 cells. Mol. Endocrinol. 19: 409-420, 2005.
293. Hauet T, Yao ZX, Bose HS, Wall CT, Han
Z, Li WP, Hales DB, Miller WL, Culty M, Papadoupoulos V. Functional interaction of peripheral-type
benzodiazepine receptor and steroidogenic acute regulatory protein in
cholesterol transport and steroidogenesis. Mol.
Endocrinol. 19: 540-554, 2005.
294. Chen X, Baker BY, Abduljabbar MA,
Miller WL. A genetic isolate of congenital lipoid adrenal hyperplasia
with atypical clinical findings. J. Clin. Endocrinol. Metab. 90: 835-840, 2005.
295. Flück CE,
296. Pandey AV, Miller WL. Regulation of 17,20 lyase activity by cytochrome b5 and by serine phosphorylation of P450c17. J. Biol. Chem. 280: 13265-13271, 2005.
297. Huang N, Pandey AV, Agrawal V, Reardon
W, Lapunzina PD, Mowat D,
Jabs EW, Van Vliet G, Sack J, Flück
CE, Miller WL. Diversity and function of mutations in P450 oxidoreductase in
patients with Antley-Bixler syndrome and disordered
steroidogenesis. Am. J. Hum. Genet.
76: 729-749, 2005.
298. Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE. Nephrogenic
syndrome of inappropriate antidiureses. Identification of novel activating mutations
in the vasopressin type 2 receptor causing a newly described genetic disease. New
Engl. J. Med. 352: 1884-1890, 2005.
299. Miller WL. Regulation of steroidogenesis by electron transfer. Endocrinology 146: 2544-2550, 2005.
300. Huang N, Dardis A, Miller WL.
Regulation of cytochrome b5 gene expression by Sp3, GATA-6, and NF-1 in human
adrenal NCI-H295A cells. Mol. Endocrinol. 19: 2020-2034, 2005.
302. Miller, WL. The adrenal cortex and its disorders. In Brook’s Clinical Pediatric Endocrinology 5th
Edition,
304. Auchus RJ, Miller WL. The principles,
pathways and enzymes of human steroidogenesis. In Endocrinology 5th Edition, LJ DeGroot
and JL Jameson, (eds).
305. Baker BY,
310. Baker BY,
312. Miller WL. StAR search: What we know about how the
steroidogenic acute regulatory protein mediates mitochondrial cholesterol
import. Mol Endocrinol 21:589-601, 2007.
313. Baker BY,
314. Scott RR, Gomes LG, Huang N, VanVliet G, Miller WL. Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency. J Clin Endocrinol Metab 92:2318-2322, 2007.
315. Miller WL. Steroidogenic acute regulatory protein (StAR), a
novel mitochondrial cholesterol transporter. Biochim Biophys Acta
1771:663-676, 2007.
317. Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA. Mutations in the gene for 1a-hydroxylase, CYP27B1, in patients with vitamin D 1a-hydroxylase deficiency. J Clin Endocrinol Metab 92:3177-3182, 2007.
319. Huang N, Agrawal V, Giacomini KM, Miller WL. Genetics of P450 oxidoreductase: Sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutants. Proc Natl Acad Sci USA 105:1733-1738, 2008.
320. Scott RR, Miller WL. Genetic and clinical features of P450 oxidoreductase deficiency. Horm Res 69:266-275, 2008.
321. Bose HS, Whittal RM, Ran Y, Bose M, Baker BY, Miller WL. StAR-like activity and molten globule behavior of StARD6, a male germ-line protein. Biochemistry 47:2277-2288, 2008.
322. Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL. Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab 93:696-702, 2008.
323. Bose M, Whittal RM, Miller, WL, Bose HS. Steroidogenic activity of StAR requires contact with mitochondrial VDAC1 and phosphate carrier protein. J Biol Chem 283:8837-8845, 2008.
324. Tee MK, Dong Q, Miller WL. Pathways leading to the phosphorylation of P450c17 and to the post-translational regulation of androgen biosynthesis. Endocrinology 149:2667-2677, 2008.
329. Bremer AA, Miller WL. The serine phosphorylation hypothesis of polycystic ovary syndrome: a unifying mechanism for hyperandrogenemia and insulin resistance. Fertil Steril 89:1039-1048, 2008.
331. Agrawal V, Huang N, Miller WL. Pharmacogenetics of P450 oxidoreductase. Effect of sequence variants on activities of CYP1A2 and CYP2C19. Pharmacogenet Genomics 18:569-576, 2008.
332. Gomes LG, Huang N, Agrawal V, Mendonça BB, Bachega TASS, Miller WL. The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency. J Clin Endocrinol Metab 93:2913-2916, 2008.
333. Hershkovitz E, Parvari R, Wudy SA, Hartmann MF, Gomes LG, Lowental N, Miller WL. Apparent isolated 17,20 lyase deficiency caused by the homozygous mutation G539R in P450 oxidoreductase. J Clin Endocrinol Metab 93:3584-3588, 2008.
334. Gomes LG, Huang N, Agrawal V, Mendonça BB, Bachega TASS, Miller WL. Extra-adrenal 21-hydroxylation by CYP2C19 and CYP3A4: Effect on 21-hydroxylase deficiency. J Clin Endocrinol Metab 94:89-95, 2009.
335. Miller WL, Huang N, Agrawal V, Giacomini KM. Genetic variation in human P450 oxidoreductase. Mol Cell Endocrinol 300:180-184, 2009.
336. Miller WL. Androgen synthesis in adrenarche. Rev Endocrin Metab Disord 10:3-17, 2009.
338. Sim SC, Miller WL, Zhong XB, Arlt W, Ogata T, Ding XX, Wolf CR, Flück CE, Pandey AV, Henderson CJ, Porter TD, Daly AK, Nebert DW, Ingelman-Sundberg M. Nomenclature for alleles of the P450 oxidoreductase (POR) gene. (letter) Pharmacogenet Genomics 19:565-566, 2009.
339. Sahakitrungruang T, Tee MK, Speiser PW, Miller WL. Novel P450c17 mutation H373D causing combined 17a-hydroxylase/17/20 lyase deficiency. J Clin Endocrinol Metab 94:3089-3092, 2009.
340. Ranadive SA, Ersoy B, Favre H, Cheung CC, Rosenthal SM, Miller WL, Vaisse C. Identification, characterization and rescue of a novel vasopressin receptor mutation causing nephrogenic diabetes insipidus. Clin Endocrinol (in press DOI:10.1111/j.1365-2265.03513.x).
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