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  1. Article ; Online: Using human genetics to discover new therapeutic targets for plasma lipids.

    Cohen, J C

    Journal of internal medicine

    2016  Volume 280, Issue 5, Page(s) 487–495

    Abstract: Genetic variation arises through multiple different alleles that vary in frequency and severity of effect. Mutations that give rise to Mendelian disorders, such as the LDL receptor (LDLR) mutations that result in familial hypercholesterolaemia, are ... ...

    Abstract Genetic variation arises through multiple different alleles that vary in frequency and severity of effect. Mutations that give rise to Mendelian disorders, such as the LDL receptor (LDLR) mutations that result in familial hypercholesterolaemia, are efficiently winnowed from the population by purifying selection and are almost inevitably rare. Conversely, alleles that are common in the population (such that homozygotes for the minor allele are present even in modest sample sizes) typically have very modest phenotypic effects. Mutations in the gene for proprotein convertase subtilisin/kexin type 9 (PCSK9) represent an unusual but informative exception in that they are relatively common but have large effects on phenotype. Loss-of-function mutations in PCSK9 occur in ~2.5% of African Americans and are associated with large reductions in coronary heart disease (CHD) risk. The development of agents to inhibit PCSK9 demonstrates the utility of translating genetics into clinical therapeutics. Attempts to identify genes responsible for hypercholesterolaemia have used traditional linkage analysis, which requires samples collected from multiple families with defects in the same gene, or genome-wide association, which requires thousands of samples from the population. More recently, whole-exome sequencing studies have revealed loss-of-function mutations in ANGPTL3 associated with pan-hypolipidemia, and in APOC3 that confer protection against CHD. The application of whole-exome sequencing to large populations or to carefully selected patients can streamline the discovery of causal genetic mutations.
    MeSH term(s) Animals ; Cholesterol, HDL/blood ; Cholesterol, LDL/blood ; Coronary Disease/blood ; Coronary Disease/genetics ; Coronary Disease/prevention & control ; Coronary Disease/therapy ; Genetic Therapy ; Humans ; Hyperlipoproteinemia Type II/blood ; Hyperlipoproteinemia Type II/genetics ; Hyperlipoproteinemia Type II/prevention & control ; Hyperlipoproteinemia Type II/therapy ; Mutation ; Proprotein Convertase 9/genetics
    Chemical Substances Cholesterol, HDL ; Cholesterol, LDL ; PCSK9 protein, human (EC 3.4.21.-) ; Proprotein Convertase 9 (EC 3.4.21.-)
    Language English
    Publishing date 2016-11
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 96274-0
    ISSN 1365-2796 ; 0954-6820
    ISSN (online) 1365-2796
    ISSN 0954-6820
    DOI 10.1111/joim.12521
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  2. Article: In utero gene therapy.

    Larson, J E / Cohen, J C

    The Ochsner journal

    2011  Volume 2, Issue 2, Page(s) 107–110

    Language English
    Publishing date 2011-06-16
    Publishing country United States
    Document type Journal Article
    ISSN 1524-5012
    ISSN 1524-5012
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  3. Article: Contribution of cholesterol 7alpha-hydroxylase to the regulation of lipoprotein metabolism.

    Cohen, J C

    Current opinion in lipidology

    1999  Volume 10, Issue 4, Page(s) 303–307

    Abstract: Clinical studies have clearly established a relationship between bile acid synthesis and plasma LDL-cholesterol concentrations. Interruption of the enterohepatic circulation of bile acids leads to increased bile acid synthesis and a reduction in plasma ... ...

    Abstract Clinical studies have clearly established a relationship between bile acid synthesis and plasma LDL-cholesterol concentrations. Interruption of the enterohepatic circulation of bile acids leads to increased bile acid synthesis and a reduction in plasma LDL-cholesterol concentrations. New studies indicate that genetic variation in cholesterol 7alpha-hydroxylase activity accounts for a significant fraction of the inter-individual variation in plasma LDL-cholesterol concentrations in the general population, and a specific CYP7A1 allele associated with increased plasma LDL-cholesterol concentrations has been identified. Studies in which cholesterol 7alpha-hydroxylase was transiently overexpressed in hamsters and mice indicate that direct manipulation of cholesterol 7alpha-hydroxylase leads to changes in plasma LDL-cholesterol concentrations. Interestingly, targeted inactivation of the gene encoding cholesterol 7alpha-hydroxylase does not lead to increased plasma LDL-cholesterol concentrations in mice.
    MeSH term(s) Animals ; Cholesterol 7-alpha-Hydroxylase/blood ; Cholesterol 7-alpha-Hydroxylase/genetics ; Cholesterol 7-alpha-Hydroxylase/metabolism ; Cholesterol, LDL/blood ; Humans ; Lipoproteins/blood ; Lipoproteins/metabolism ; Polymorphism, Genetic/genetics
    Chemical Substances Cholesterol, LDL ; Lipoproteins ; Cholesterol 7-alpha-Hydroxylase (EC 1.14.14.23)
    Language English
    Publishing date 1999-08
    Publishing country England
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S. ; Review
    ZDB-ID 1045394-5
    ISSN 1473-6535 ; 0957-9672
    ISSN (online) 1473-6535
    ISSN 0957-9672
    DOI 10.1097/00041433-199908000-00003
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  4. Article: Evolving therapies for peptic ulcer disease: Helicobacter pylori treatment.

    Cohen, J C

    The Gastroenterologist

    1995  Volume 3, Issue 4, Page(s) 289–300

    Abstract: In the era of Helicobacter pylori, our concepts about peptic ulcer disease have undergone a major paradigm shift. New ways of thinking about the etiology of ulcers are leading to new treatment modalities. Treating peptic ulcers with antibiotics is an ... ...

    Abstract In the era of Helicobacter pylori, our concepts about peptic ulcer disease have undergone a major paradigm shift. New ways of thinking about the etiology of ulcers are leading to new treatment modalities. Treating peptic ulcers with antibiotics is an idea that would have been laughed at a mere decade ago, yet it has become the standard of care for H. pylori-associated disease. Our current state of knowledge, and where we seem to be heading, is the subject of this review.
    MeSH term(s) Antacids/therapeutic use ; Anti-Bacterial Agents/therapeutic use ; Drug Therapy, Combination ; Helicobacter Infections/drug therapy ; Helicobacter Infections/etiology ; Helicobacter Infections/physiopathology ; Helicobacter pylori/drug effects ; Humans ; Peptic Ulcer/drug therapy ; Peptic Ulcer/microbiology ; Peptic Ulcer/physiopathology ; Risk Factors
    Chemical Substances Antacids ; Anti-Bacterial Agents
    Language English
    Publishing date 1995-12
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1167759-4
    ISSN 1065-2477
    ISSN 1065-2477
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  5. Article: Tackling corruption in the pharmaceutical systems worldwide with courage and conviction.

    Cohen, J C / Mrazek, M / Hawkins, L

    Clinical pharmacology and therapeutics

    2007  Volume 81, Issue 3, Page(s) 445–449

    Abstract: Poor drug access continues to be one of the main global health problems. Global inequalities in access to pharmaceuticals are caused by a number of variables including poverty, high drug prices, poor health infrastructure, and fraud and corruption--the ... ...

    Abstract Poor drug access continues to be one of the main global health problems. Global inequalities in access to pharmaceuticals are caused by a number of variables including poverty, high drug prices, poor health infrastructure, and fraud and corruption--the latter being the subject of this article. There is growing recognition among policy makers that corruption in the pharmaceutical system can waste valuable resources allocated to pharmaceutical products and services. This, in turn, denies those most in need from life-saving or life-enhancing medicines. As a result, international organizations, including the World Health Organization and the World Bank are beginning to address the issue of corruption in the health sector broadly and the pharmaceutical system specifically. This is encouraging news for improving drug access for the global poor who are most harmed by corruption as they tend to purchase less expensive drugs from unqualified or illegal drug sellers selling counterfeit or sub-standard drugs. In our paper, we illuminate what are the core issues that relate to corruption in the pharmaceutical sector. We argue that corruption in the pharmaceutical system can be detrimental to a country's ability to improve the health of its population. Moreover, unless policy makers deal with the issue of corruption, funding allocated to the pharmaceutical system to treat health conditions may simply be wasted and the inequality between rich and poor in access to health and pharmaceutical products will be aggravated.
    MeSH term(s) Documentation ; Drug Costs ; Drug Industry/legislation & jurisprudence ; Drug Industry/standards ; Drug Prescriptions/standards ; Fraud ; Legislation, Drug ; Pharmacies/standards ; Public Policy
    Language English
    Publishing date 2007-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 123793-7
    ISSN 1532-6535 ; 0009-9236
    ISSN (online) 1532-6535
    ISSN 0009-9236
    DOI 10.1038/sj.clpt.6100074
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  6. Article: Protein ingestion does not affect postprandial lipaemia or chylomicron-triglyceride clearance.

    Cohen, J C

    European journal of clinical nutrition

    1989  Volume 43, Issue 7, Page(s) 497–499

    Abstract: The effects of protein ingestion on postprandial lipaemia and intravenous fat tolerance were examined in 15 normolipidaemic young men and women. Mean postprandial lipaemia was similar after meals containing 100 ml dairy cream (containing 40 g fat) and ... ...

    Abstract The effects of protein ingestion on postprandial lipaemia and intravenous fat tolerance were examined in 15 normolipidaemic young men and women. Mean postprandial lipaemia was similar after meals containing 100 ml dairy cream (containing 40 g fat) and after meals containing 100 ml dairy cream and 23 g protein (in the form of casein). The rate of disappearance of an intravenous bolus of Intralipid was similar before and after the ingestion of 23 g casein. These findings indicate that dietary protein does not significantly affect postprandial lipaemia or chylomicron-triglyceride clearance.
    MeSH term(s) Adult ; Chylomicrons/metabolism ; Dietary Proteins/administration & dosage ; Dietary Proteins/pharmacology ; Female ; Humans ; Lipids/blood ; Male ; Metabolic Clearance Rate ; Triglycerides/metabolism
    Chemical Substances Chylomicrons ; Dietary Proteins ; Lipids ; Triglycerides
    Language English
    Publishing date 1989-07
    Publishing country England
    Document type Clinical Trial ; Journal Article ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't
    ZDB-ID 639358-5
    ISSN 1476-5640 ; 0954-3007
    ISSN (online) 1476-5640
    ISSN 0954-3007
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  7. Article: Chylomicron triglyceride clearance: comparison of three assessment methods.

    Cohen, J C

    The American journal of clinical nutrition

    1989  Volume 49, Issue 2, Page(s) 306–313

    Abstract: Three indirect methods for assessing chylomicron-triglyceride clearance were compared in 12 normolipidemic men. Oral and intravenous fat tolerance tests and a duodenal fat perfusion were performed in each subject by standard methods. Mean values for ... ...

    Abstract Three indirect methods for assessing chylomicron-triglyceride clearance were compared in 12 normolipidemic men. Oral and intravenous fat tolerance tests and a duodenal fat perfusion were performed in each subject by standard methods. Mean values for postprandial lipemia (2.27 +/- 1.8 mmol), Intralipid half-life (13.7 +/- 5.2 min), and chylomicron-triglyceride half-life (4.5 +/- 2.6 min) were similar to corresponding values reported previously for normolipidemic men. The sample correlation coefficient (r) was 0.84 between oral and intravenous fat-tolerance tests, 0.84 between the oral fat-tolerance test and the duodenal-perfusion method, and 0.82 between the intravenous fat-tolerance and the duodenal perfusion methods. All three methods showed a strong correlation between chylomicron-triglyceride clearance and fasting triglyceride concentrations. These findings indicate that the oral and intravenous fat-tolerance tests and the duodenal-perfusion method yield qualitatively similar assessments of chylomicron-triglyceride clearance in normolipidemic men.
    MeSH term(s) Adult ; Chylomicrons/metabolism ; Dietary Fats/pharmacology ; Duodenum ; Humans ; Hyperlipidemias/metabolism ; Male ; Methods ; Perfusion ; Reference Values ; Triglycerides/blood ; Triglycerides/pharmacokinetics
    Chemical Substances Chylomicrons ; Dietary Fats ; Triglycerides
    Language English
    Publishing date 1989-02
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 280048-2
    ISSN 1938-3207 ; 0002-9165
    ISSN (online) 1938-3207
    ISSN 0002-9165
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  8. Article: Assessment of vibrotactile sensitivity in patients with carpal tunnel syndrome

    Cohen, J. C.

    J. Occupational and Environmental Medicine

    1996  Volume 38, Issue 6, Page(s) 593–601

    Abstract: The effectiveness of using vibrotactile threshold measures to aid in the diagnosis of carpal tunnel syndrome (CTS) was evaluated. Thresholds for detecting 1-, 10-, and 300-Hz vibratory stimuli were measured on the fingertips of 24 CTS patients and 20 ... ...

    Institution Merrill Lane, USA-Syracuse, NY 13244-5290 Institute for Sensory Research, Syracuse University
    Abstract The effectiveness of using vibrotactile threshold measures to aid in the diagnosis of carpal tunnel syndrome (CTS) was evaluated. Thresholds for detecting 1-, 10-, and 300-Hz vibratory stimuli were measured on the fingertips of 24 CTS patients and 20 healthy control subjects. There were no significant differences in threshold for 1- and 300-Hz between the two groups. Although there were significant differences for 10-Hz stimuli, the mean patient threshold was within 1 standard deviation of the mean threshold for the control group. These results indicate that threshold testing is not a suitable diagnostic tool for CTS. Additionally, the authors examined whether thresholds were elevated in the presence of pain. Seven patients reported experiences of pain and no pain sessions. No significant differences in threshold were found between the two pain conditions, indicating that the presence of pain related to CTS does not affect threshold.
    Keywords Karpaltunnelsyndrom ; Sensibilitaet ; Messen ; Evaluation ; Elektrodiagnostik ; Effektivitaet ; Erschuetterung ; Arbeitsmedizin
    Language English
    Document type Article
    Database Social Medicine (SOMED)

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  9. Article: Cystic fibrosis revisited.

    Larson, J E / Cohen, J C

    Molecular genetics and metabolism

    2000  Volume 71, Issue 3, Page(s) 470–477

    Abstract: Cystic fibrosis is a pleiotropic disease whose primary defect is thought to be abnormal chloride conductance. Despite intensive study, the role of the protein in the airway and the mechanism for its direct participation in the disease pathology remain ... ...

    Abstract Cystic fibrosis is a pleiotropic disease whose primary defect is thought to be abnormal chloride conductance. Despite intensive study, the role of the protein in the airway and the mechanism for its direct participation in the disease pathology remain unclear. This paper reviews CFTR's cell regulatory functions and data supporting the role of CFTR in secretory epithelial cell development. A hypothesis for CF pathophysiology based on secretory cell differentiation is proposed.
    MeSH term(s) Animals ; Cystic Fibrosis/genetics ; Cystic Fibrosis/pathology ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Gene Expression Regulation, Developmental ; Humans
    Chemical Substances CFTR protein, human ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
    Language English
    Publishing date 2000-11
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1006/mgme.2000.3087
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    Zs.A 617: Show issues Location:
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  10. Article: Radiopaque contrast agents as cause of iodide mumps.

    Cohen, J C

    Postgraduate medicine

    1982  Volume 71, Issue 5, Page(s) 44–45

    MeSH term(s) Child ; Contrast Media/adverse effects ; Humans ; Iodides/adverse effects ; Parotitis/chemically induced
    Chemical Substances Contrast Media ; Iodides
    Language English
    Publishing date 1982-05
    Publishing country England
    Document type Letter
    ZDB-ID 410138-8
    ISSN 1941-9260 ; 0032-5481
    ISSN (online) 1941-9260
    ISSN 0032-5481
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