Research Topics
Genomes and Genes
| Forbes D PorterSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and managementForbes D Porter
Section on Molecular Dysmorphology, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD 20892, USA
Eur J Hum Genet 16:535-41. 2008..This review discusses the clinical aspects and diagnosis of SLOS, therapeutic interventions and the current understanding of pathophysiological processes involved in SLOS...
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblastsChristopher A Wassif
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
Mol Genet Metab 85:96-107. 2005....
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome)Josep Marcos
Children s Hospital Oakland Research Institute, Oakland, CA 94609 1673, USA
Steroids 72:802-8. 2007..Finally, determining the mechanism by which these "SLOS" mice tend to normalize may provide insight into the future development of therapy...- Acute postnatal cataract formation in Smith-Lemli-Opitz syndromeHalima Goodwin
Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, Maryland 20892, USA
Am J Med Genet A 146:208-11. 2008..These findings are suggestive an inflammatory component that is consistent with impaired competence of the lens capsule... - Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndromeGrace Koo
Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, DHHS, Bethesda, MD, USA
Am J Med Genet A 152:2094-8. 2010..This unique case underscores the adjunctive use of fibroblast and molecular testing in ambiguous cases of SLOS and may provide insight into the potential efficacy of therapeutic interventions altering postnatal cholesterol biosynthesis... - Inhibition of HMG CoA reductase reveals an unexpected role for cholesterol during PGC migration in the mouseJiaxi Ding
Department of Genetics Case Western Reserve University, Cleveland, OH, USA
BMC Dev Biol 8:120. 2008..Primordial germ cells (PGCs) are the embryonic precursors of the sperm and eggs. Environmental or genetic defects that alter PGC development can impair fertility or cause formation of germ cell tumors... - Malformation syndromes caused by disorders of cholesterol synthesisForbes D Porter
Program in Developmental Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
J Lipid Res 52:6-34. 2011.... - Cholesterol precursors and facial cleftingForbes D Porter
Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Department of Health and Human Services, Bethesda, Maryland 20892, USA
J Clin Invest 116:2322-5. 2006..In this issue of the JCI, Engelking et al. provide evidence that sterol precursor accumulation plays a pivotal role in the genesis of facial malformations (see the related article beginning on page 2356)... - Human malformation syndromes due to inborn errors of cholesterol synthesisForbes D Porter
Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
Curr Opin Pediatr 15:607-13. 2003..These disorders represent the first true merging of dysmorphology with biochemical genetics... - Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiencyXiao Sheng Jiang
NICHD, National Institutes of Health, United States Department of Health and Human Services, Bethesda, Maryland 20892, USA
Mol Cell Proteomics 9:1461-75. 2010..This proteomics study has provided insight into the pathophysiological mechanisms of SLOS and lathosterolosis, and understanding these pathophysiological changes will help guide clinical therapy for SLOS and lathosterolosis... - HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiencyChristopher A Wassif
Heritable Disorders Branch, NICHD, OD, NIH, DHHS, Bethesda, MD 20892, USA
Hum Mol Genet 16:1176-87. 2007.... - Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapyLina S Correa-Cerro
Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
Hum Mol Genet 15:839-51. 2006.... - Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvatureMARJORIE C GONDRE-LEWIS
Section on Cellular Neurobiology, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA
J Cell Sci 119:1876-85. 2006.... - Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiencyPatrycja A Krakowiak
Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Hum Mol Genet 12:1631-41. 2003..We identified a homozygous mutation of SC5D (137A>C, Y46S) in this patient. An unique aspect of the lathosterolosis phenotype is the combination of a malformation syndrome with an intracellular storage defect... - Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsivenessMartina Kovarova
Molecular Inflammation Section, Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
J Exp Med 203:1161-71. 2006..These findings provide the first evidence of lipid raft dysfunction in SLOS and may explain the observed association of allergy with SLOS... - Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implicationsXiao Sheng Jiang
Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health, National Institutes of Health, Bethesda, MD 20892, USA
Hum Mol Genet 19:1347-57. 2010..Developmental abnormalities of neuronal process formation may contribute to the neurocognitive deficits found in SLOS and may represent a potential target for therapeutic intervention... - Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insightStephanie M Cologna
Program in Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America
PLoS ONE 7:e47845. 2012..This study provides an initial report of dysregulated proteins in NPC1 which will assist with further investigation of NPC1 pathology and facilitate implementation of therapeutic trials... - Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndromeMarie L Lindegaard
Section on Molecular Dysmorphology, Eunice Kennedy Schriver National Institute of Child Health and Human Development, National Heart, Lung and Blood Institute, NIH, DHHS, Bethesda, MD, USA
Hum Mol Genet 17:3806-13. 2008..Furthermore, we show, as a proof of principle, that modulating maternal-fetal cholesterol transport has potential for in utero therapy of SLOS... - δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disordersMiao Xu
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland 20892, USA
J Biol Chem 287:39349-60. 2012..Our data suggest that regulated exocytosis may represent a potential therapeutic target for reduction of lysosomal storage in this class of diseases... - Malformation syndromes due to inborn errors of cholesterol synthesisForbes D Porter
Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
J Clin Invest 110:715-24. 2002 - 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathwayChristopher A Wassif
National Institute of Child Health and Human Development, National Institute of Health Bethesda, Maryland, MD 20892, USA
Steroids 68:497-502. 2003..Thus, patients with SLOS have increased levels of metabolites derived from intermediates in cholesterol synthesis that are biologically active and may contribute to the regulation of cholesterol synthesis in vivo... - Anesthesia and airway management of pediatric patients with Smith-Lemli-Opitz syndromeZenaide M N Quezado
Department of Anesthesia, Children's National Medical Center, George Washington University, Washington, DC, USA
Anesthesiology 97:1015-9. 2002 - Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1Celine V M Cluzeau
Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, US Department of Health and Human Services, Bethesda, MD 20892, USA
Hum Mol Genet 21:3632-46. 2012..Both LGALS3 and CTSD have the potential to aid in diagnosis and serve as biomarkers to monitor efficacy in therapeutic trials... - 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndromeLina S Correa-Cerro
Unit on Molecular Dysmorphology, Heritable Disorders Branch, Department of Health and Human Services, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab 84:112-26. 2005..This paper reviews the biochemical, molecular, and mutational aspects of DHCR7... - Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1Rao Fu
School of Basic Medical Sciences, Peking University, Beijing, China
Am J Med Genet A 158:2775-80. 2012..These data support the hypothesis that ApoE may play a role in modulating NPC1 neuropathology... - Growth charts for individuals with Smith-Lemli-Opitz syndromeRyan W Y Lee
National Institutes of Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA
Am J Med Genet A 158:2707-13. 2012..This study represents comprehensive anthropometric data from the largest cohort available, and proposes growth charts for widespread use in the management and study of individuals with SLOS... - A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaWayne A Cabral
Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
Genet Med 14:543-51. 2012..We aimed to determine the frequency of carriers for this mutation among African Americans and West Africans, and the mutation origin and age... - Adrenal function in Smith-Lemli-Opitz syndromeSimona E Bianconi
Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet A 155:2732-8. 2011..However, we were able to show that our patients with SLOS had an adequate glucocorticoid response, and thus, in mild to moderate cases of SLOS stress steroid coverage may not be warranted... - Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 diseaseForbes D Porter
Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
Sci Transl Med 2:56ra81. 2010..These cholesterol oxidation products are robust blood-based biochemical markers for NPC1 disease that may prove transformative for diagnosis and treatment of this disorder, and as outcome measures to monitor response to therapy... - Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic proceduresNing Miao
Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA
J Child Neurol 27:1541-6. 2012..Furthermore, it is important for delivery of safe anesthesia that there is communication among care team members so that all involved understand the disease manifestation spectrum... - Warburg effect's manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissueStephanie M J Fliedner
Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS ONE 7:e40949. 2012..This study provides new insight into pathogenic mechanisms in aggressive human PHEOs/PGLs, which may lead to identifying new diagnostic and prognostic markers in the near future... - LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growthItai Tzchori
Section on Mammalian Molecular Genetics, Laboratory of Mammalian Genes and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
Development 136:1375-85. 2009.... - Oxidative stress in Niemann-Pick disease, type CRao Fu
Program in Developmental Endocrinology and Genetics, NICHD, NIH, DHHS, Bethesda, MD 20892, USA
Mol Genet Metab 101:214-8. 2010.... - Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblastsChristopher A Wassif
Unit on Molecular Dysmorphology, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab 75:325-34. 2002..We propose that 7-DHC may directly or indirectly inhibit the function of the NPC protein through its sterol-sensing domain (SSD), and that 7-DHC may perturb the function of other SSD containing proteins in SLOS... - Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndromeIsabelle Weinhofer
Center for Brain Research, Medical University of Vienna, Vienna, Austria
Biochem Biophys Res Commun 345:205-9. 2006..Our results implicate peroxisomes in cholesterol biosynthesis but provide no link to phenotypic variation in SLOS... - A defective response to Hedgehog signaling in disorders of cholesterol biosynthesisMichael K Cooper
Department of Molecular Biology and Genetics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Nat Genet 33:508-13. 2003..We further find that sterol depletion affects the activity of Smoothened (Smo), an essential component of the Hh signal transduction apparatus... - Smith-Lemli-Opitz syndrome and autism spectrum disorderIrena Bukelis
Center for Genetic Disorders of Cognition and Behavior, Department of Psychiatry, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, 3901 Greenspring Ave, Baltimore, MD 21211, USA
Am J Psychiatry 164:1655-61. 2007 - The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid productionJosep Marcos
Children's Hospital Oakland Research Institute, 5700 Martin Luther King Jr Way, Oakland, CA 94609, USA
Steroids 69:51-60. 2004..Even though the new neuroactive steroids identified were unlikely to have been formed in the brain, it is likely that mechanisms for their synthesis are operable in this organ... - Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African AmericansBrooke S Wright
Am J Med Genet A 120:139-41. 2003 - Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriersAleksandra Lalovic
McGill Group for Suicide Studies, Douglas Hospital Research Centre, 6875 LaSalle Blvd, Verdun, Quebec H4H 1R3, Canada
Am J Psychiatry 161:2123-6. 2004..CONCLUSIONS: These results, based on a unique study design, provide additional evidence supporting the relationship between cholesterol metabolism and suicidal behavior... - Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome)Cedric Shackleton
Children s Hospital Oakland Research Institute, 5700 Martin Luther King Jr Way, Oakland, CA 94609, USA
J Steroid Biochem Mol Biol 82:225-32. 2002..We have yet to prove the activity of adrenal 21-hydroxylase, 11beta-hydroxylase or 5alpha-reductase towards 7- or 8-dehydroprecursors... - Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)John S Waye
Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
Hum Mutat 26:59. 2005..Surveys of SLOS patients have identified more than one hundred point mutations of the DHCR7 gene, most of which are missense mutations. Here, we report the identification of nine novel missense mutations of the DHCR7 gene... - Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriolMarwan Shinawi
Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston 77030, USA
Am J Med Genet A 138:56-60. 2005....