Walter L. Miller

Research interests

Publications

• Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

  Endocrine Reviews · 2021 · https://doi.org/10.1210/endrev/bnab016

• Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline

  Yearbook of pediatric endocrinology · 2019 · https://doi.org/10.1530/ey.16.8.5

• Steroid hormone synthesis in mitochondria

  Molecular and Cellular Endocrinology · 2013 · https://doi.org/10.1016/j.mce.2013.04.014

• Human cytochromes P450 in health and disease

  Philosophical Transactions of the Royal Society B Biological Sciences · 2013 · https://doi.org/10.1098/rstb.2012.0431

• Role of mitochondria in steroidogenesis

  Best Practice & Research Clinical Endocrinology & Metabolism · 2012 · https://doi.org/10.1016/j.beem.2012.05.002

• Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation

  The American Journal of Human Genetics · 2011 · https://doi.org/10.1016/j.ajhg.2011.06.009

• The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders

  Endocrine Reviews · 2011 · https://doi.org/10.1210/er.2010-0013

• Early steps in steroidogenesis: intracellular cholesterol trafficking

  Journal of Lipid Research · 2011 · https://doi.org/10.1194/jlr.r016675

• Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter

  Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2007 · https://doi.org/10.1016/j.bbalip.2007.02.012

• Nephrogenic Syndrome of Inappropriate Antidiuresis

  New England Journal of Medicine · 2005 · https://doi.org/10.1056/nejmoa042743

• Minireview: Regulation of Steroidogenesis by Electron Transfer

  Endocrinology · 2005 · https://doi.org/10.1210/en.2005-0096

• Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

  The American Journal of Human Genetics · 2005 · https://doi.org/10.1086/429417

• Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

  Nature Genetics · 2004 · https://doi.org/10.1038/ng1300

• Rapid regulation of steroidogenesis by mitochondrial protein import

  Nature · 2002 · https://doi.org/10.1038/417087a

• A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency

  New England Journal of Medicine · 2001 · https://doi.org/10.1056/nejmoa002939

• Cytochrome b 5 Augments the 17,20-Lyase Activity of Human P450c17 without Direct Electron Transfer

  Journal of Biological Chemistry · 1998 · https://doi.org/10.1074/jbc.273.6.3158

• Cloning of Human 25-Hydroxyvitamin D-1α-Hydroxylase and Mutations Causing Vitamin D-Dependent Rickets Type 1

  Molecular Endocrinology · 1997 · https://doi.org/10.1210/mend.11.13.0035

• Tenascin–X deficiency is associated with Ehlers–Danlos syndrome

  Nature Genetics · 1997 · https://doi.org/10.1038/ng0997-104

• Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial import sequence: Implications for the mechanism of StAR action

  Proceedings of the National Academy of Sciences · 1996 · https://doi.org/10.1073/pnas.93.24.13731

• The Pathophysiology and Genetics of Congenital Lipoid Adrenal Hyperplasia

  New England Journal of Medicine · 1996 · https://doi.org/10.1056/nejm199612193352503

• Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13.

  Proceedings of the National Academy of Sciences · 1995 · https://doi.org/10.1073/pnas.92.11.4778

• Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome.

  Proceedings of the National Academy of Sciences · 1995 · https://doi.org/10.1073/pnas.92.23.10619

• Role of Steroidogenic Acute Regulatory Protein in Adrenal and Gonadal Steroidogenesis

  Science · 1995 · https://doi.org/10.1126/science.7892608

• Molecular Biology of Steroid Hormone Synthesis*

  Endocrine Reviews · 1988 · https://doi.org/10.1210/edrv-9-3-295

• Hormonal Regulation of P450scc (20,22-desmolase) and P450cl7 (17α-hydroxylase/17,20-lyase) in Cultured Human Granulosa Cells*

  The Journal of Clinical Endocrinology & Metabolism · 1986 · https://doi.org/10.1210/jcem-63-1-202

• Structure and Evolution of the Growth Hormone Gene Family

  Endocrine Reviews · 1983 · https://doi.org/10.1210/edrv-4-2-97

Current projects

No projects listed.