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Articles 211 - 240 of 290
Full-Text Articles in Medical Sciences
Tyk2 Protein-Coding Variants Protect Against Rheumatoid Arthritis And Autoimmunity, With No Evidence Of Major Pleiotropic Effects On Non-Autoimmune Complex Traits, D. Diogo, L. Bastarache, K. P. Liao, R. R. Graham, R. S. Fulton, J. D. Greenberg, S. Eyre, A. Lee, P. K. Gregersen, R. M. Plenge, +44 Additional Authors
Tyk2 Protein-Coding Variants Protect Against Rheumatoid Arthritis And Autoimmunity, With No Evidence Of Major Pleiotropic Effects On Non-Autoimmune Complex Traits, D. Diogo, L. Bastarache, K. P. Liao, R. R. Graham, R. S. Fulton, J. D. Greenberg, S. Eyre, A. Lee, P. K. Gregersen, R. M. Plenge, +44 Additional Authors
Journal Articles
Despite the success of genome-wide association studies (GWAS) in detecting a large number of loci for complex phenotypes such as rheumatoid arthritis (RA) susceptibility, the lack of information on the causal genes leaves important challenges to interpret GWAS results in the context of the disease biology. Here, we genetically fine-map the RA risk locus at 19p13 to define causal variants, and explore the pleiotropic effects of these same variants in other complex traits. First, we combined Immunochip dense genotyping (n = 23,092 case/control samples), Exomechip genotyping (n = 18,409 case/control samples) and targeted exon-sequencing (n = 2,236 case/controls samples) to …
Widespread Non-Additive And Interaction Effects Within Hla Loci Modulate The Risk Of Autoimmune Diseases, T. Lencz, A. J. Deutsch, B. Han, X. Hu, Y. Okada, S. Eyre, M. Knapp, A. Zhernakova, P. K. Gregersen, S. Raychaudhuri, +27 Additional Authors
Widespread Non-Additive And Interaction Effects Within Hla Loci Modulate The Risk Of Autoimmune Diseases, T. Lencz, A. J. Deutsch, B. Han, X. Hu, Y. Okada, S. Eyre, M. Knapp, A. Zhernakova, P. K. Gregersen, S. Raychaudhuri, +27 Additional Authors
Journal Articles
Human leukocyte antigen (HLA) genes confer substantial risk for autoimmune diseases on a log-additive scale. Here we speculated that differences in autoantigen-binding repertoires between a heterozygote's two expressed HLA variants might result in additional non-additive risk effects. We tested the non-additive disease contributions of classical HLA alleles in patients and matched controls for five common autoimmune diseases: rheumatoid arthritis (ncases = 5,337), type 1 diabetes (T1D; ncases = 5,567), psoriasis vulgaris (ncases = 3,089), idiopathic achalasia (ncases = 727) and celiac disease (ncases = 11,115). In four of the five diseases, we observed highly significant, non-additive dominance effects (rheumatoid arthritis, …
Pioglitazone In Early Parkinson's Disease: A Phase 2, Multicentre, Double-Blind, Randomised Trial, T. Simuni, K. Kieburtz, B. Tilley, J. J. Elm, B. Ravina, D. Babcock, M. Emborg, Andrew Feigin, R. Zweig, Parkinson Ninds Exploratory Trials, +38 Additinal Authoris
Pioglitazone In Early Parkinson's Disease: A Phase 2, Multicentre, Double-Blind, Randomised Trial, T. Simuni, K. Kieburtz, B. Tilley, J. J. Elm, B. Ravina, D. Babcock, M. Emborg, Andrew Feigin, R. Zweig, Parkinson Ninds Exploratory Trials, +38 Additinal Authoris
Journal Articles
Background A systematic assessment of potential disease-modifying compounds for Parkinson's disease concluded that pioglitazone could hold promise for the treatment of patients with this disease. We assessed the effect of pioglitazone on the progression of Parkinson's disease in a multicentre, double-blind, placebo-controlled, futility clinical trial. Methods Participants with the diagnosis of early Parkinson's disease on a stable regimen of 1 mg/day rasagiline or 10 mg/day selegiline were randomly assigned (1:1:1) to 15 mg/day pioglitazone, 45 mg/day pioglitazone, or placebo. Investigators were masked to the treatment assignment. Only the statistical centre and the central pharmacy knew the treatment name associated with …
Immunological Function Of Blimp-1 In Dendritic Cells And Relevance To Autoimmune Diseases, S. J. Kim
Immunological Function Of Blimp-1 In Dendritic Cells And Relevance To Autoimmune Diseases, S. J. Kim
Journal Articles
Previous studies have identified the immunological functions of transcription factor B lymphocyte-induced maturation protein-1 (Blimp-1) in various adaptive immune cell types such as T and B lymphocytes. More recently, it has been shown that Blimp-1 extends its functional roles to dendritic cells (DCs) and macrophages, two cell types belonging to the innate immune system. The protein acts as a direct and indirect regulator of target genes by recruiting chromatin modification factors and by regulating microRNA expression, respectively. In DCs, Blimp-1 has been identified as one of the components involved in antigen presentation. Genome-wide association studies identified polymorphisms associated with multiple …
A Stationary Wavelet Entropy-Based Clustering Approach Accurately Predicts Gene Expression, N. Nguyen, A. Vo, I. Choi, K. J. Won
A Stationary Wavelet Entropy-Based Clustering Approach Accurately Predicts Gene Expression, N. Nguyen, A. Vo, I. Choi, K. J. Won
Journal Articles
Studying epigenetic landscapes is important to understand the condition for gene regulation. Clustering is a useful approach to study epigenetic landscapes by grouping genes based on their epigenetic conditions. However, classical clustering approaches that often use a representative value of the signals in a fixed-sized window do not fully use the information written in the epigenetic landscapes. Clustering approaches to maximize the information of the epigenetic signals are necessary for better understanding gene regulatory environments. For effective clustering of multidimensional epigenetic signals, we developed a method called Dewer, which uses the entropy of stationary wavelet of epigenetic signals inside enriched …
Studies On Ageing And The Severity Of Radiographic Joint Damage In Rheumatoid Arthritis, L. Mangnus, H. W. Van Steenbergen, E. Lindqvist, E. Brouwer, M. Reijnierse, T. W. Huizinga, P. K. Gregersen, E. Berglin, S. Rantapaa-Dahlqvist, A. H. Van Der Helm-Van Mil, +1 Additional Author
Studies On Ageing And The Severity Of Radiographic Joint Damage In Rheumatoid Arthritis, L. Mangnus, H. W. Van Steenbergen, E. Lindqvist, E. Brouwer, M. Reijnierse, T. W. Huizinga, P. K. Gregersen, E. Berglin, S. Rantapaa-Dahlqvist, A. H. Van Der Helm-Van Mil, +1 Additional Author
Journal Articles
INTRODUCTION: The western population is ageing. It is unknown whether age at diagnosis affects the severity of Rheumatoid Arthritis (RA), we therefore performed the present study. METHOD: 1,875 RA-patients (7,219 radiographs) included in five European and North-American cohorts (Leiden-EAC, Wichita, Umea, Groningen and Lund) were studied on associations between age at diagnosis and joint damage severity. In 698 Leiden RA-patients with 7-years follow-up it was explored if symptom duration, anti-citrullinated-peptide-antibodies (ACPA), swollen joint count (SJC) and C-reactive-protein (CRP) mediated the association of age with joint damage. Fifty-six other RA-patients of the EAC-cohort underwent baseline MRIs of wrist, MCP and MTP-joints; …
Child And Adolescent Psychiatrists' Reported Monitoring Behaviors For Second-Generation Antipsychotics, A. M. Rodday, S. K. Parsons, C. Mankiw, C. U. Correll, A. S. Robb, B. T. Zima, T. S. Saunders, L. K. Leslie
Child And Adolescent Psychiatrists' Reported Monitoring Behaviors For Second-Generation Antipsychotics, A. M. Rodday, S. K. Parsons, C. Mankiw, C. U. Correll, A. S. Robb, B. T. Zima, T. S. Saunders, L. K. Leslie
Journal Articles
Objective: The number of children and adolescents (hereafter referred to as "children") who have been prescribed second-generation antipsychotics (SGAs) has increased over the last decade, but little is known about monitoring practices in pediatric patients who are vulnerable to adverse effects. We examined factors associated with psychiatrists' self-reported monitoring of children who were prescribed SGAs. Methods: A survey was mailed to a national, randomly selected sample of 1600 child and adolescent psychiatrists from the American Medical Association mailing list. Using logistic regression, we tested whether psychiatrist characteristics, attitudes, and practice characteristics were associated with monitoring (baseline and/or periodic) the following: …
Molecular Genetic Evidence For Overlap Between General Cognitive Ability And Risk For Schizophrenia: A Report From The Cognitive Genomics Consortium (Cogent), T. Lencz, E. Knowles, G. Davies, S. Guha, D. C. Liewald, J. M. Starr, S. Djurovic, I. Melle, K. Sundet, A. Christoforou, I. Reinvang, S. Mukherjee, P. Derosse, A. Lundervold, V. M. Steen, M. John, T. Espeseth, K. Raikkonen, E. Widen, A. Palotie, J. G. Eriksson, I. Giegling, B. Konte, M. Ikeda, P. Roussos, S. Giakoumaki, K. E. Burdick, A. Payton, W. Ollier, M. Horan, G. Donohoe, D. Morris, A. Corvin, M. Gill, N. Pendleton, N. Iwata, A. Darvasi, P. Bitsios, D. Rujescu, J. Lahti, S. L. Hellard, M. C. Keller, O. A. Andreassen, I. J. Deary, D. C. Glahn, Anil Malhotra
Molecular Genetic Evidence For Overlap Between General Cognitive Ability And Risk For Schizophrenia: A Report From The Cognitive Genomics Consortium (Cogent), T. Lencz, E. Knowles, G. Davies, S. Guha, D. C. Liewald, J. M. Starr, S. Djurovic, I. Melle, K. Sundet, A. Christoforou, I. Reinvang, S. Mukherjee, P. Derosse, A. Lundervold, V. M. Steen, M. John, T. Espeseth, K. Raikkonen, E. Widen, A. Palotie, J. G. Eriksson, I. Giegling, B. Konte, M. Ikeda, P. Roussos, S. Giakoumaki, K. E. Burdick, A. Payton, W. Ollier, M. Horan, G. Donohoe, D. Morris, A. Corvin, M. Gill, N. Pendleton, N. Iwata, A. Darvasi, P. Bitsios, D. Rujescu, J. Lahti, S. L. Hellard, M. C. Keller, O. A. Andreassen, I. J. Deary, D. C. Glahn, Anil Malhotra
Journal Articles
It has long been recognized that generalized deficits in cognitive ability represent a core component of schizophrenia (SCZ), evident before full illness onset and independent of medication. The possibility of genetic overlap between risk for SCZ and cognitive phenotypes has been suggested by the presence of cognitive deficits in first-degree relatives of patients with SCZ; however, until recently, molecular genetic approaches to test this overlap have been lacking. Within the last few years, large-scale genome-wide association studies (GWAS) of SCZ have demonstrated that a substantial proportion of the heritability of the disorder is explained by a polygenic component consisting of …
The Relationship Between Fasting Serum Glucose And Cerebral Glucose Metabolism In Late-Life Depression And Normal Aging, C. M. Marano, C. I. Workman, C. H. Lyman, E. Kramer, C. R. Hermann, Y. L. Ma, V. Dhawan, T. Chaly, D. Eidelberg, G. S. Smith
The Relationship Between Fasting Serum Glucose And Cerebral Glucose Metabolism In Late-Life Depression And Normal Aging, C. M. Marano, C. I. Workman, C. H. Lyman, E. Kramer, C. R. Hermann, Y. L. Ma, V. Dhawan, T. Chaly, D. Eidelberg, G. S. Smith
Journal Articles
Evidence exists for late-life depression (LLD) as both a prodrome of and risk factor for Alzheimer's disease (AD). The underlying neurobiological mechanisms are poorly understood. Impaired peripheral glucose metabolism may explain the association between depression and AD given the connection between type 2 diabetes mellitus with both depression and AD. Positron emission tomography (PET) measures of cerebral glucose metabolism are sensitive to detecting changes in neural circuitry in LLD and AD. Fasting serum glucose (FSG) in non-diabetic young (YC; n=20) and elderly controls (EC; n=12) and LLD patients (n = 16) was correlated with PET scans of cerebral glucose metabolism …
Biological Insights From 108 Schizophrenia-Associated Genetic Loci, S. Ripke, B. M. Neale, A. Corvin, J. T. R. Walters, K. H. Farh, T. Lencz, A. K. Malhotra, Consortium Psychiat Genomics, Conso Psychosis Endophenotypes Int, Consor Wellcome Trust Case-Control, +292 Additional Authors
Biological Insights From 108 Schizophrenia-Associated Genetic Loci, S. Ripke, B. M. Neale, A. Corvin, J. T. R. Walters, K. H. Farh, T. Lencz, A. K. Malhotra, Consortium Psychiat Genomics, Conso Psychosis Endophenotypes Int, Consor Wellcome Trust Case-Control, +292 Additional Authors
Journal Articles
Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and …
Aggression In Schizophrenia And Its Relationship To Neural Circuitry Of Urgency, P. Szeszko
Aggression In Schizophrenia And Its Relationship To Neural Circuitry Of Urgency, P. Szeszko
Journal Articles
No abstract provided.
Functional Development In Clinical High Risk Youth: Prediction Of Schizophrenia Versus Other Psychotic Disorders, S. I. Tarbox, J. Addington, K. S. Cadenhead, T. D. Cannon, B. Cornblatt, D. O. Perkins, L. J. Seidman, M. T. Tsuang, E. F. Walker, S. W. Woods, +2 Additional Authors
Functional Development In Clinical High Risk Youth: Prediction Of Schizophrenia Versus Other Psychotic Disorders, S. I. Tarbox, J. Addington, K. S. Cadenhead, T. D. Cannon, B. Cornblatt, D. O. Perkins, L. J. Seidman, M. T. Tsuang, E. F. Walker, S. W. Woods, +2 Additional Authors
Journal Articles
This study evaluates premorbid social and academic functioning in clinical high-risk individuals as predictors of transition to schizophrenia versus another psychotic disorder. Participants were 54 individuals enrolled in phase one of the North American Prodrome Longitudinal Study who over two and a half years of follow-up met criteria for schizophrenia/schizophreniform disorder (n=28) or another psychotic disorder (n=26). Social and academic functioning in childhood, early adolescence, and late adolescence was assessed at baseline using the Cannon-Spoor Premorbid Adjustment Scale. Social maladjustment in late adolescence predicted significantly higher odds of transition to schizophrenia versus another psychotic disorder independent of childhood and early …
Stress Exposure And Sensitivity In The Clinical High-Risk Syndrome: Initial Findings From The North American Prodrome Longitudinal Study (Napls), H. D. Trotman, C. W. Holtzman, E. F. Walker, J. M. Addington, C. E. Bearden, K. S. Cadenhead, T. D. Cannon, B. Cornblatt, R. K. Heinssen, T. H. Mcglashan, +5 Additional Authors
Stress Exposure And Sensitivity In The Clinical High-Risk Syndrome: Initial Findings From The North American Prodrome Longitudinal Study (Napls), H. D. Trotman, C. W. Holtzman, E. F. Walker, J. M. Addington, C. E. Bearden, K. S. Cadenhead, T. D. Cannon, B. Cornblatt, R. K. Heinssen, T. H. Mcglashan, +5 Additional Authors
Journal Articles
There is inconsistent evidence for increased stress exposure among individuals at clinical high risk (CHR) for psychosis. Yet similar to patients with a diagnosed psychotic illness, the preponderance of evidence suggests that CHR individuals tend to experience stressful life events (LE) and daily hassles (DH) as more subjectively stressful than healthy individuals. The present study utilizes data from the North American Prodrome Longitudinal Study Phase 2 (NAPLS-2) to test the hypotheses that (1) CHR individuals manifest higher self-reported stress in response to both LE and DH when compared to healthy controls (HC), (2) group differences in self-reported stress increase with …
Moderator Effects Of Working Memory On The Stability Of Adhd Symptoms By Dopamine Receptor Gene Polymorphisms During Development, J. Trampush, M. M. Jacobs, Y. L. Hurd, J. H. Newcorn, J. M. Halperin
Moderator Effects Of Working Memory On The Stability Of Adhd Symptoms By Dopamine Receptor Gene Polymorphisms During Development, J. Trampush, M. M. Jacobs, Y. L. Hurd, J. H. Newcorn, J. M. Halperin
Journal Articles
We tested the hypothesis that dopamine D1 and D2 receptor gene (DRD1 and DRD2, respectively) polymorphisms and the development of working memory skills can interact to influence symptom change over 10 years in children with attention-deficit/hyperactivity disorder (ADHD). Specifically, we examined whether improvements in working memory maintenance and manipulation from childhood to early adulthood predicted the reduction of ADHD symptoms as a function of allelic variation in DRD1 and DRD2. Participants were 76 7-11-year-old children with ADHD who were genotyped and prospectively followed for almost 10 years. ADHD symptoms were rated using the Attention Problems scale on the Child Behavior …
Rdocs Redux, D. R. Weinberger, T. Goldberg
Bone Morphogenetic Protein-Focused Strategies To Induce Cytotoxicity In Lung Cancer Cells, A. Fotinos, N. Nagarajan, A. S. Martins, D. T. Fritz, D. Garsetti, A. T. Lee, C. C. Hong, M. B. Rogers
Bone Morphogenetic Protein-Focused Strategies To Induce Cytotoxicity In Lung Cancer Cells, A. Fotinos, N. Nagarajan, A. S. Martins, D. T. Fritz, D. Garsetti, A. T. Lee, C. C. Hong, M. B. Rogers
Journal Articles
Background: High bone morphogenetic protein (BMP)-2 expression in lung carcinoma correlates with poor patient prognosis. The present study explored strategies to repress BMP signaling. Materials and Methods: The cytotoxicity of BMP2-knockdown, dorsomorphin derivatives, and microRNAs was tested in transformed and non-transformed lung cells. Microarray analyses of 1,145 microRNAs in A549 lung adenocarcinoma cells and two other transformed lung cell types relative to BEAS-2B bronchial epithelial cells were performed. Results: Reduced BMP2 synthesis inhibited A549 cell growth. The dorsomorphin derivative LDN-193189, but not DMH1 or DMH4, was strongly cytotoxic towards A549 cells, but not towards BEAS-2B cells. Microarray analysis revealed that …
Farewell Statement From Dr. Cerami And Dr. Tracey As Outgoing Co-Editors In Chief Of Molecular Medicine, A. Cerami, K. J. Tracey
Farewell Statement From Dr. Cerami And Dr. Tracey As Outgoing Co-Editors In Chief Of Molecular Medicine, A. Cerami, K. J. Tracey
Journal Articles
No abstract provided.
Reply: Evidence Against Volume Conduction To Explain Normal Meps In Muscles With Low Motor Power In Sci, D. J. Edwards, M. Cortes, G. W. Thickbroom, A. Rykman, A. Pascual-Leone, B. T. Volpe
Reply: Evidence Against Volume Conduction To Explain Normal Meps In Muscles With Low Motor Power In Sci, D. J. Edwards, M. Cortes, G. W. Thickbroom, A. Rykman, A. Pascual-Leone, B. T. Volpe
Journal Articles
No abstract provided.
Sequestering Hmgb1 Via Dna-Conjugated Beads Ameliorates Murine Colitis, Z. Ju, S. S. Chavan, M. Dancho, T. Tsaava, J. Li, B. Lu, Y. Al-Abed, J. Roth, K. J. Tracey, H. Yang, +4 Additional Authors
Sequestering Hmgb1 Via Dna-Conjugated Beads Ameliorates Murine Colitis, Z. Ju, S. S. Chavan, M. Dancho, T. Tsaava, J. Li, B. Lu, Y. Al-Abed, J. Roth, K. J. Tracey, H. Yang, +4 Additional Authors
Journal Articles
Inflammatory bowel disease (IBD) is chronic inflammation of the gastrointestinal tract that affects millions of people worldwide. Although the etiology of IBD is not clear, it is known that products from stressed cells and enteric microbes promote intestinal inflammation. High mobility group box 1 (HMGB1), originally identified as a nuclear DNA binding protein, is a cytokine-like protein mediator implicated in infection, sterile injury, autoimmune disease, and IBD. Elevated levels of HMGB1 have been detected in inflamed human intestinal tissues and in feces of IBD patients and mouse models of colitis. Neutralizing HMGB1 activity by administration of anti-HMGB1 antibodies or HMGB1-specific …
Inhibition Of Amp-Activated Protein Kinase Signaling Alleviates Impairments In Hippocampal Synaptic Plasticity Induced By Amyloid Beta, T. Ma, Y. R. Chen, V. Vingtdeux, H. T. Zhao, B. Viollet, P. Marambaud, E. Klann
Inhibition Of Amp-Activated Protein Kinase Signaling Alleviates Impairments In Hippocampal Synaptic Plasticity Induced By Amyloid Beta, T. Ma, Y. R. Chen, V. Vingtdeux, H. T. Zhao, B. Viollet, P. Marambaud, E. Klann
Journal Articles
The AMP-activated protein kinase (AMPK) is a Ser/Thr kinase that is activated in response to low-energy states to coordinate multiple signaling pathways to maintain cellular energy homeostasis. Dysregulation of AMPK signaling has been observed in Alzheimer's disease (AD), which is associated with abnormal neuronal energy metabolism. In the current study we tested the hypothesis that aberrant AMPK signaling underlies AD-associated synaptic plasticity impairments by using pharmacological and genetic approaches. We found that amyloid beta (A beta)-induced inhibition of long-term potentiation (LTP) and enhancement of long-term depression were corrected by the AMPK inhibitor compound C (CC). Similarly, LTP impairments in APP/PS1 …
Candidate Chromosome 1 Disease Susceptibility Genes For Sjogren's Syndrome Xerostomia Are Narrowed By Novel Nod.B10 Congenic Mice, P. K. A. Mongini, J. M. Kramer, T. Ishikawa, H. Herschman, D. Esposito
Candidate Chromosome 1 Disease Susceptibility Genes For Sjogren's Syndrome Xerostomia Are Narrowed By Novel Nod.B10 Congenic Mice, P. K. A. Mongini, J. M. Kramer, T. Ishikawa, H. Herschman, D. Esposito
Journal Articles
Sjogren's syndrome (SS) is characterized by salivary gland leukocytic infiltrates and impaired salivation (xerostomia). Cox-2 (Ptgs2) is located on chromosome 1 within the span of the Aec2 region. In an attempt to demonstrate that COX-2 drives antibody-dependent hyposalivation, NOD.B10 congenic mice bearing a Cox-2flox gene were generated. A congenic line with non-NOD alleles in Cox-2-flanking genes failed manifest xerostomia. Further backcrossing yielded disease-susceptible NOD.B10 Cox-2flox lines; fine genetic mapping determined that critical Aec2 genes lie within a 1.56 to 2.17 Mb span of DNA downstream of Cox-2. Bioinformatics analysis revealed that susceptible and non-susceptible lines exhibit non-synonymous coding SNPs in …
Sucrose-Conditioned Flavor Preferences In Sweet Ageusic T1r3 And Calhm1 Knockout Mice, A. Sclafani, P. Marambaud, K. Ackroff
Sucrose-Conditioned Flavor Preferences In Sweet Ageusic T1r3 And Calhm1 Knockout Mice, A. Sclafani, P. Marambaud, K. Ackroff
Journal Articles
The present study compared the ability of sweet ageusic T1r3 knockout (KO) and Calhm1 KO mice to acquire preferences for a sucrose-paired flavor as well as for unflavored sucrose. The KO and wildtype (WT) mice were given 24-h one-bottle access to 8% sucrose containing one flavor CS+, e.g., grape) and to water containing a different flavor (CS-, e.g., cherry) over 4 training days. In subsequent two-bottle tests with the flavors in water only, the T1r3 KO and Calhm1 KO mice, like WT mice, preferred the CS+ to the CS-. After training with flavored solutions, both KO groups also preferred unflavored …
Evaluation Of Amniotic-Derived Membrane Biomaterial As An Adjunct For Repair Of Critical Sized Bone Defects, M. Starecki, J. A. Schwartz, D. A. Grande
Evaluation Of Amniotic-Derived Membrane Biomaterial As An Adjunct For Repair Of Critical Sized Bone Defects, M. Starecki, J. A. Schwartz, D. A. Grande
Journal Articles
No abstract provided.
Salty Taste Deficits In Calhm1 Knockout Mice, M. G. Tordoff, H. T. Ellis, T. R. Aleman, A. Downing, P. Marambaud, J. K. Foskett, R. M. Dana, S. A. Mccaughey
Salty Taste Deficits In Calhm1 Knockout Mice, M. G. Tordoff, H. T. Ellis, T. R. Aleman, A. Downing, P. Marambaud, J. K. Foskett, R. M. Dana, S. A. Mccaughey
Journal Articles
Genetic ablation of calcium homeostasis modulator 1 (CALHM1), which releases adenosine triphosphate from Type 2 taste cells, severely compromises the behavioral and electrophysiological responses to tastes detected by G protein-coupled receptors, such as sweet and bitter. However, the contribution of CALHM1 to salty taste perception is less clear. Here, we evaluated several salty taste-related phenotypes of CALHM1 knockout (KO) mice and their wild-type (WT) controls: 1) In a conditioned aversion test, CALHM1 WT and KO mice had similar NaCl avoidance thresholds. 2) In two-bottle choice tests, CALHM1 WT mice showed the classic inverted U-shaped NaCl concentration-preference function but CALHM1 KO …
Effect Of The Calhm1 G330d And R154h Human Variants On The Control Of Cytosolic Ca2+ And A Beta Levels, V. Vingtdeux, J. E. Tanis, P. Chandakkar, H. T. Zhao, U. Dreses-Werringloer, F. Campagne, J. K. Foskett, P. Marambaud
Effect Of The Calhm1 G330d And R154h Human Variants On The Control Of Cytosolic Ca2+ And A Beta Levels, V. Vingtdeux, J. E. Tanis, P. Chandakkar, H. T. Zhao, U. Dreses-Werringloer, F. Campagne, J. K. Foskett, P. Marambaud
Journal Articles
CALHM1 is a plasma membrane voltage-gated Ca2+-permeable ion channel that controls amyloid-beta (A beta) metabolism and is potentially involved in the onset of Alzheimer's disease (AD). Recently, Rubio-Moscardo et al. (PLoS One (2013) 8: e74203) reported the identification of two CALHM1 variants, G330D and R154H, in early-onset AD (EOAD) patients. The authors provided evidence that these two human variants were rare and resulted in a complete loss of CALHM1 function. Recent publicly available large-scale exome sequencing data confirmed that R154H is a rare CALHM1 variant (minor allele frequency (MAF) = 0.015%), but that G330D is not (MAF = 3.5% in …
Overexpression Of Extracellular Superoxide Dismutase Protects Against Brain Injury Induced By Chronic Hypoxia, N. Zaghloul, H. Patel, C. Codipilly, P. Marambaud, S. Dewey, S. Frattini, P. T. Huerta, M. Nasim, E. J. Miller, M. Ahmed
Overexpression Of Extracellular Superoxide Dismutase Protects Against Brain Injury Induced By Chronic Hypoxia, N. Zaghloul, H. Patel, C. Codipilly, P. Marambaud, S. Dewey, S. Frattini, P. T. Huerta, M. Nasim, E. J. Miller, M. Ahmed
Journal Articles
Extracellular superoxide dismutase (EC-SOD) is an isoform of SOD normally found both intra- and extra-cellularly and accounting for most SOD activity in blood vessels. Here we explored the role of EC-SOD in protecting against brain damage induced by chronic hypoxia. EC-SOD Transgenic mice, were exposed to hypoxia (FiO2.1%) for 10 days (H-KI) and compared to transgenic animals housed in room air (RA-KI), wild type animals exposed to hypoxia (H-WT or wild type mice housed in room air (RA-WT). Overall brain metabolism evaluated by positron emission tomography (PET) showed that H-WT mice had significantly higher uptake of (18)FDG in the brain …
A Disease-Specific Metabolic Brain Network Associated With Corticobasal Degeneration, M. Niethammer, C. C. Tang, A. Feigin, P. J. Allen, L. Heinen, S. Hellwig, F. Amtage, E. Hanspal, J. P. Vonsattel, D. Eidelberg, +3 Addtional Authors
A Disease-Specific Metabolic Brain Network Associated With Corticobasal Degeneration, M. Niethammer, C. C. Tang, A. Feigin, P. J. Allen, L. Heinen, S. Hellwig, F. Amtage, E. Hanspal, J. P. Vonsattel, D. Eidelberg, +3 Addtional Authors
Journal Articles
Corticobasal degeneration is an uncommon parkinsonian variant condition that is diagnosed mainly on clinical examination. To facilitate the differential diagnosis of this disorder, we used metabolic brain imaging to characterize a specific network that can be used to discriminate corticobasal degeneration from other atypical parkinsonian syndromes. Ten non-demented patients (eight females/two males; age 73.9 +/- 5.7 years) underwent metabolic brain imaging with 18 F-fluorodeoxyglucose positron emission tomography for atypical parkinsonism. These individuals were diagnosed clinically with probable corticobasal degeneration. This diagnosis was confirmed in the three subjects who additionally underwent post-mortem examination. Ten age-matched healthy subjects (five females/five males; age …
Brain Network Markers Of Abnormal Cerebral Glucose Metabolism And Blood Flow In Parkinson's Disease, S. C. Peng, D. Eidelberg, Y. L. Ma
Brain Network Markers Of Abnormal Cerebral Glucose Metabolism And Blood Flow In Parkinson's Disease, S. C. Peng, D. Eidelberg, Y. L. Ma
Journal Articles
Neuroimaging of cerebral glucose metabolism and blood flow is ideally suited to assay widely-distributed brain circuits as a result of local molecular events and behavioral modulation in the central nervous system. With the progress in novel analytical methodology, this endeavor has succeeded in unraveling the mechanisms underlying a wide spectrum of neurodegenerative diseases. In particular, statistical brain mapping studies have made significant strides in describing the pathophysiology of Parkinson's disease (PD) and related disorders by providing signature biomarkers to determine the systemic abnormalities in brain function and evaluate disease progression, therapeutic responses, and clinical correlates in patients. In this article, …
Characterization Of Disease-Related Covariance Topographies With Ssmpca Toolbox: Effects Of Spatial Normalization And Pet Scanners, S. C. Peng, Y. L. Ma, P. G. Spetsieris, P. Mattis, Andrew Feigin, V. Dhawan, D. Eidelberg
Characterization Of Disease-Related Covariance Topographies With Ssmpca Toolbox: Effects Of Spatial Normalization And Pet Scanners, S. C. Peng, Y. L. Ma, P. G. Spetsieris, P. Mattis, Andrew Feigin, V. Dhawan, D. Eidelberg
Journal Articles
To generate imaging biomarkers from disease-specific brain networks, we have implemented a general toolbox to rapidly perform scaled subprofile modeling (SSM) based on principal component analysis (PCA) on brain images of patients and normals. This SSMPCA toolbox can define spatial covariance patterns whose expression in individual subjects can discriminate patients from controls or predict behavioral measures. The technique may depend on differences in spatial normalization algorithms and brain imaging systems. We have evaluated the reproducibility of characteristic metabolic patterns generated by SSMPCA in patients with Parkinson's disease (PD). We used [F-18]fluorodeoxyglucose PET scans from patients with PD and normal controls. …
Thalamocortical Connectivity Correlates With Phenotypic Variability In Dystonia, An Vo, W. Sako, M. Niethammer, M. Carbon, S. B. Bressman, A. M. Ulug, D. Eidelberg
Thalamocortical Connectivity Correlates With Phenotypic Variability In Dystonia, An Vo, W. Sako, M. Niethammer, M. Carbon, S. B. Bressman, A. M. Ulug, D. Eidelberg
Journal Articles
Dystonia is a brain disorder characterized by abnormal involuntary movements without defining neuropathological changes. The disease is often inherited as an autosomal-dominant trait with incomplete penetrance. Individuals with dystonia, whether inherited or sporadic, exhibit striking phenotypic variability, with marked differences in the somatic distribution and severity of clinical manifestations. In the current study, we used magnetic resonance diffusion tensor imaging to identify microstructural changes associated with specific limb manifestations. Functional MRI was used to localize specific limb regions within the somatosensory cortex. Microstructural integrity was preserved when assessed in subrolandic white matter regions somatotopically related to the clinically involved limbs, …