Discordant Clinical Phenotype and Sterol Biochemistry in Smith-Lemli-Opitz Syndrome

द्वारा Koo, Grace, Conley, Sandra K., Wassif, Christopher A., Porter, Forbes D.
प्रकाशित 2010

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome

द्वारा Bianconi, Simona E., Cross, Joanna L., Wassif, Christopher A., Porter, Forbes D.
में प्रकाशित Expert Opin Orphan Drugs (2015)

Vitamin D Levels in Smith-Lemli-Opitz Syndrome

द्वारा Movassaghi, M., Bianconi, Simona, Feinn, Richard, Wassif, Christopher A., Porter, Forbes D.
में प्रकाशित Am J Med Genet A (2017)

Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann–Pick Disease, Type C1

द्वारा Cawley, Niamh X., Lyons, Anna T., Abebe, Daniel, Wassif, Christopher A., Porter, Forbes D.
में प्रकाशित Int J Mol Sci (2020)

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

द्वारा Kovarova, Martina, Wassif, Christopher A., Odom, Sandra, Liao, Katherine, Porter, Forbes D., Rivera, Juan
प्रकाशित 2006

Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis: IDENTIFICATION OF ALTERED METABOLIC PATHWAYS IN DHCR7 and SC5D DEFICIENCY

द्वारा Jiang, Xiao-Sheng, Backlund, Peter S., Wassif, Christopher A., Yergey, Alfred L., Porter, Forbes D.
प्रकाशित 2010

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

द्वारा Matabosch, Xavier, Ying, Lee, Serra, Montserrat, Wassif, Christopher A., Porter, Forbes D., Shackleton, Cedric, Watson, Gordon
प्रकाशित 2010

Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formation

द्वारा Suzuki, Akiko, Ogata, Kenichi, Yoshioka, Hiroki, Shim, Junbo, Wassif, Christopher A., Porter, Forbes D., Iwata, Junichi
में प्रकाशित Bone Res (2020)

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

द्वारा Cawley, Niamh X., Sojka, Caitlin, Cougnoux, Antony, Lyons, Anna T., Nicoli, Elena‐Raluca, Wassif, Christopher A., Porter, Forbes D.
में प्रकाशित PLoS One (2020)

Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex

द्वारा London, Edra, Wassif, Christopher A., Horvath, Anelia, Tatsi, Christina, Angelousi, Anna, Karageorgiadis, Alexander S., Porter, Forbes D., Stratakis, Constantine A.
में प्रकाशित J Clin Endocrinol Metab (2015)

Toll-like receptor mediated lysozyme expression in Niemann-Pick disease, type C1

द्वारा Cougnoux, Antony, Yerger, Julia C., Fellmeth, Mason, Serra-Vinardell, Jenny, Wassif, Christopher A., Cawley, Niamh X., Porter, Forbes D.
में प्रकाशित Mol Genet Metab (2020)

Acute Statin Administration Reduces Levels of Steroid Hormone Precursors

द्वारा London, Edra, Tatsi, Christina, Soldin, Steven J., Wassif, Christopher A., Backlund, Peter, Ng, David, Biesecker, Leslie G., Stratakis, Constantine A.
में प्रकाशित Horm Metab Res (2020)

Activation of Rho GTPases in Smith–Lemli–Opitz syndrome: pathophysiological and clinical implications

द्वारा Jiang, Xiao-Sheng, Wassif, Christopher A., Backlund, Peter S., Song, Li, Holtzclaw, Lynne A., Li, Zheng, Yergey, Alfred L., Porter, Forbes D.
प्रकाशित 2010

Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome Patients

द्वारा Cologna, Stephanie M., Shieh, Christine, Toth, Cynthia L., Cougnoux, Antony, Burkert, Kathryn R., Bianconi, Simona E., Wassif, Christopher A., Porter, Forbes D.
में प्रकाशित Am J Med Genet A (2016)

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK

द्वारा Dai, Sheng, Dulcey, Andrés E., Hu, Xin, Wassif, Christopher A., Porter, Forbes D., Austin, Christopher P., Ory, Daniel S., Marugan, Juan, Zheng, Wei
में प्रकाशित Autophagy (2017)

The role of Niemann–Pick type C2 in zebrafish embryonic development

द्वारा Tseng, Wei-Chia, Johnson Escauriza, Ana J., Tsai-Morris, Chon-Hwa, Feldman, Benjamin, Dale, Ryan K., Wassif, Christopher A., Porter, Forbes D.
में प्रकाशित Development (2021)

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith–Lemli–Opitz syndrome

द्वारा Lindegaard, Marie L., Wassif, Christopher A., Vaisman, Boris, Amar, Marcelo, Wasmuth, Elizabeth V., Shamburek, Robert, Nielsen, Lars B., Remaley, Alan T., Porter, Forbes D.
प्रकाशित 2008

Nanostructure-Initiator Mass Spectrometry (NIMS) Imaging of Brain Cholesterol Metabolites in Smith-Lemli-Opitz Syndrome

द्वारा Patti, Gary J., Shriver, Leah P., Wassif, Christopher A., Woo, Hin-Koon, Uritboonthai, Wilasinee, Apon, Jon, Manchester, Marianne, Porter, Forbes D., Siuzdak, Gary
प्रकाशित 2010

Determination of the Allelic Frequency in Smith-Lemli-Opitz Syndrome by Analysis of Massively Parallel Sequencing Data Sets

द्वारा Cross, Joanna L., Iben, James, Simpson, Claire, Thurm, Audrey, Swedo, Susan, Tierney, Elaine, Bailey-Wilson, Joan, Biesecker, Leslie G., Porter, Forbes D., Wassif, Christopher A.
में प्रकाशित Clin Genet (2014)

A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

द्वारा Wassif, Christopher A., Kratz, Lisa, Sparks, Susan E., Wheeler, Courtney, Bianconi, Simona, Gropman, Andrea, Calis, Karim A., Kelley, Richard I., Tierney, Elaine, Porter, Forbes D.
में प्रकाशित Genet Med (2016)