Search Results - "Thompson, Miles"

Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases by Thompson, Miles D

“…Genetic counseling and treatment options for rare developmental disabilities (DDs) have been revolutionized by the opportunities made possible by using…”
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Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders by Thompson, Miles D, Knaus, Alexej

“…The case report by Mabry et al. (1970) of a family with four children with elevated tissue non-specific alkaline phosphatase, seizures and profound…”
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Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation by Krawitz, Peter M., Murakami, Yoshiko, Hecht, Jochen, Krüger, Ulrike, Holder, Susan E., Mortier, Geert R., Delle Chiaie, Barbara, De Baere, Elfride, Thompson, Miles D., Roscioli, Tony, Kielbasa, Szymon, Kinoshita, Taroh, Mundlos, Stefan, Robinson, Peter N., Horn, Denise

“…Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism,…”
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Orexin Receptor Multimerization versus Functional Interactions: Neuropharmacological Implications for Opioid and Cannabinoid Signalling and Pharmacogenetics by Thompson, Miles D, Sakurai, Takeshi, Rainero, Innocenzo, Maj, Mary C, Kukkonen, Jyrki P

“…Orexins/hypocretins are neuropeptides formed by proteolytic cleavage of a precursor peptide, which are produced by neurons found in the lateral hypothalamus…”
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Antiseizure effects of the cannabinoids in the amygdala‐kindling model by Fallah, Merrick S., Dlugosz, Lukasz, Scott, Brian W., Thompson, Miles D., Burnham, W. McIntyre

“…Objective Focal impaired awareness seizures (FIASs) are the most common seizure type in adults and are often refractory to medication. Management of FIASs is…”
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Variation in the Serotonin Transporter Gene and Alcoholism: Risk and Response to Pharmacotherapy by Thompson, Miles D, Kenna, George A

“…SLC6A4, the gene encoding the serotonin transporter protein (5-HTT), has been extensively examined as a risk factor for alcohol dependence (AD). More recently,…”
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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes by Carmody, Leigh C, Blau, Hannah, Danis, Daniel, Zhang, Xingman A, Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D, Robinson, Peter N

“…Defects in the glycosylphosphatidylinositol (GPI) biosynthesis pathway can result in a group of congenital disorders of glycosylation known as the inherited…”
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OX1 and OX2 orexin/hypocretin receptor pharmacogenetics by Thompson, Miles D, Xhaard, Henri, Sakurai, Takeshi, Rainero, Innocenzo, Kukkonen, Jyrki P

“…Orexin/hypocretin peptide mutations are rare in humans. Even though human narcolepsy is associated with orexin deficiency, this is only extremely rarely due to…”
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G protein-coupled receptor (GPCR) gene variants and human genetic disease by Thompson, Miles D, Percy, Maire E, Cole, David E C, Bichet, Daniel G, Hauser, Alexander S, Gorvin, Caroline M

“…Genetic variations in the genes encoding G protein-coupled receptors (GPCRs) can disrupt receptor structure and function, which can result in human genetic…”
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G protein-coupled receptor (GPCR) pharmacogenomics by Thompson, Miles D, Reiner-Link, David, Berghella, Alessandro, Rana, Brinda K, Rovati, G Enrico, Capra, Valerie, Gorvin, Caroline M, Hauser, Alexander S

“…The field of pharmacogenetics, the investigation of the influence of one or more sequence variants on drug response phenotypes, is a special case of…”
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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome by Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M, Schweiger, Michal R, Rödelsperger, Christian, Marcelis, Carlo, Kölsch, Uwe, Meisel, Christian, Stephani, Friederike, Kinoshita, Taroh, Murakami, Yoshiko, Bauer, Sebastian, Isau, Melanie, Fischer, Axel, Dahl, Andreas, Kerick, Martin, Hecht, Jochen, Köhler, Sebastian, Jäger, Marten, Grünhagen, Johannes, de Condor, Birgit Jonske, Doelken, Sandra, Brunner, Han G, Meinecke, Peter, Passarge, Eberhard, Thompson, Miles D, Cole, David E, Horn, Denise, Roscioli, Tony

“…Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum…”
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Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity by Thompson, Miles D., Cole, David E.

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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy by Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D., Jones, Marilyn C., Masser-Frye, Diane, Scheuerle, Angela E., Perry, Denise L., Taft, Ryan J., Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M.

“…Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome…”
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Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3) by Thompson, Miles D, Li, Xueying, Spencer-Manzon, Michele, Andrade, Danielle M, Murakami, Yoshiko, Kinoshita, Taroh, Carpenter, Thomas O

“…We present a case report of a child with features of hyperphosphatasia with neurologic deficit (HPMRS) or Mabry syndrome (MIM 239300) with variants of unknown…”
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Cysteinyl-leukotrienes and their receptors in asthma and other inflammatory diseases: Critical update and emerging trends by Capra, Valérie, Thompson, Miles D., Sala, Angelo, Cole, David E., Folco, Giancarlo, Rovati, G. Enrico

“…Cysteinyl‐leukotrienes (cysteinyl‐LTs), that is, LTC4, LTD4, and LTE4, trigger contractile and inflammatory responses through the specific interaction with G…”
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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome by Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo, Afawi, Zaid, Pendziwiat, Manuela, Abu-Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise, Krawitz, Peter M.

“…ABSTRACT HPMRS or Mabry syndrome is a heterogeneous glycosylphosphatidylinositol (GPI) anchor deficiency that is caused by an impairment of synthesis or…”
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Cysteinyl Leukotrienes Pathway Genes, Atopic Asthma and Drug Response: From Population Isolates to Large Genome-Wide Association Studies by Thompson, Miles D, Capra, Valerie, Clunes, Mark T, Rovati, G E, Stankova, Jana, Maj, Mary C, Duffy, David L

“…Genetic variants associated with asthma pathogenesis and altered response to drug therapy are discussed. Many studies implicate polymorphisms in genes encoding…”
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Acceptance and Related Processes in Adjustment to Chronic Pain by Thompson, Miles, McCracken, Lance M.

“…Chronic pain poses significant challenges in the lives of many people. At the root of many of these challenges are the behavior patterns pain naturally…”
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G protein-coupled receptor mutations and human genetic disease by Thompson, Miles D, Hendy, Geoffrey N, Percy, Maire E, Bichet, Daniel G, Cole, David E C

“…Genetic variations in G protein-coupled receptor genes (GPCRs) disrupt GPCR function in a wide variety of human genetic diseases. In vitro strategies and…”
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Cellular signalling of cysteinyl leukotriene type 1 receptor variants CysLT1 -G300S and CysLT1 -I206S by Yaddaden, Louiza, Véronneau, Steeve, Thompson, Miles D, Rola-Pleszczynski, Marek, Stankova, Jana

“…Abstract Cysteinyl-leukotrienes are pro-inflammatory lipid mediators, involved in allergic asthma, that bind the G-protein-coupled receptors CysLT1 , CysLT2…”
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