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1. Full Text The analysis of causal relationships between blood lipid levels and BMD
by Cherny, SS and Freidin, MB and Williams, FMK and Livshits, G
PLOS ONE, ISSN 1932-6203, 02/2019, Volume 14, Issue 2, pp. e0212464 - e0212464
Bone mineral density (BMD) and lipid levels are two of the most extensively studied risk factors for common diseases of aging, such as cardiovascular disease... 
STRUCTURAL EQUATION | PROFILE | BONE-MINERAL DENSITY | CHOLESTEROL | MULTIDISCIPLINARY SCIENCES | DIRECTION | MASS | GENETIC INFLUENCES | ASSOCIATION | CROSS-SECTIONAL MEASURES | Medical research | Metabolites | Analysis | Medicine, Experimental | Lipids | Bones | Research | Health aspects | Density | Cholesterol | Clinical trials | Systematic review | Biosynthesis | Epidemiology | Risk factors | Osteoporosis | Biomedical materials | Aging | Biocompatibility | Modelling | Bone density | Lipid metabolism | Chromosomes | Causation | Health risks | Metabolism | Risk analysis | Medicine | Studies | Molecular modelling | Correlation analysis | Bone mineral density | Cardiovascular diseases | Causality | Twins
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2. Full Text Association of Raynaud's phenomenon with a polymorphism in the NOS1 gene
by Munir, S and Freidin, MB and Brain, S and Williams, FMK
PLOS ONE, ISSN 1932-6203, 04/2018, Volume 13, Issue 4, pp. e0196279 - e0196279
Background Raynaud's phenomenon (RP) describes the phenomenon of recurrent vasospasm of digital arteries, associated with skin colour changes: pallor, cyanosis... 
DIAGNOSIS | PREVALENCE | COLD | WORKERS | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | Diseases in Twins | Genetic Predisposition to Disease | Temperature | Humans | Middle Aged | Raynaud Disease - genetics | Calcitonin Gene-Related Peptide - genetics | Male | Genetic Variation | Young Adult | Adolescent | Aged, 80 and over | TRPM Cation Channels - genetics | Adult | Female | TRPA1 Cation Channel - genetics | Aged | Nitric Oxide Synthase Type I - genetics | Polymorphism, Single Nucleotide | Skin - pathology | Genetic aspects | Research | Raynaud's disease | Single nucleotide polymorphisms | Gene expression | Index Medicus
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3. Full Text A pharmacogenetic study of patients with schizophrenia from West Siberia gets insight into dopaminergic mechanisms of antipsychotic-induced hyperprolactinemia
by Osmanova, Diana Z and Freidin, Maxim B and Fedorenko, Olga Yu and Pozhidaev, Ivan V and Boiko, Anastasiia S and Vyalova, Natalia M and Tiguntsev, Vladimir V and Kornetova, Elena G and Loonen, Anton J. M and Semke, Arkadiy V and Wilffert, Bob and Bokhan, Nikolay A and Ivanova, Svetlana A
BMC Medical Genetics, ISSN 1471-2350, 04/2019, Volume 20, Issue Suppl 1, pp. 47 - 47
Background: Hyperprolactinemia (HPRL) is a classical side effect of antipsychotic drugs primarily attributed to blockade of dopamine D2 receptors (DRD2s) on... 
Antipsychotics | Dopamine receptors genes | Monoamine oxidase (MAO) | Hyperprolactinemia | Dopamine transporter SLC6A3 | QUANTITATIVE ENZYME AUTORADIOGRAPHY | MAO-B | PROLACTIN | P-GLYCOPROTEIN | IN-VITRO | TRANSPORTER GENE | GENETICS & HEREDITY | RECEPTOR GENE POLYMORPHISMS | DRD2 | ASSOCIATION | BINDING | Complications and side effects | Antipsychotic drugs | Dopamine | Patient outcomes | Analysis | Schizophrenia | Drug therapy | Risk factors | Drugs | Neuroleptics | Mental disorders | Parkinsons disease | Single-nucleotide polymorphism | Kinases | Dopamine D4 receptors | Psychotropic drugs | Social research | Blood-brain barrier | Prolactin | Coding | Genetic analysis | Dopamine transporter | Pituitary gland | Risperidone | Dopamine D2 receptors | Dopamine receptors | Enzymes | Statistical analysis | Secretion | Dopamine D3 receptors | Pituitary (anterior) | Gene expression | Amine oxidase (flavin-containing) | Genetic variance | Restless legs syndrome | Genetic markers | Dopamine D1 receptors | Pituitary | Binding sites | Polymorphism
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4. Full Text Application of RNA in situ hybridisation for identification of circulating tumour cells
by Freidin, Maxim B and Freydina, Dasha V and Montero Fernandez, Angeles and Rice, Alexandra and Nicholson, Andrew G and Lim, Eric
Journal of Clinical Pathology, ISSN 0021-9746, 08/2015, Volume 68, Issue 8, pp. 669 - 670
  A number of techniques have been developed to trap and visualise CTCs. 1 We postulated that antibody-independent approaches for collection of CTCs have a... 
DIAGNOSIS | PATHOLOGY | CAPTURE | CANCER | Lung Neoplasms - genetics | Predictive Value of Tests | Humans | Middle Aged | Lung Neoplasms - pathology | Male | Neoplastic Cells, Circulating - chemistry | RNA, Neoplasm - blood | Biomarkers, Tumor - blood | Aged, 80 and over | Cell Line, Tumor | RNA, Neoplasm - genetics | Female | Aged | Biomarkers, Tumor - genetics | Lung Neoplasms - blood | In Situ Hybridization - methods | Medical research | Patients | Lung cancer | Blood | Index Medicus | Abridged Index Medicus
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5. Full Text Molecular Relationships between Bronchial Asthma and Hypertension as Comorbid Diseases
by Bragina, Elena Yu and Goncharova, Irina A and Garaeva, Anna F and Nemerov, Evgeniy V and Babovskaya, Anastasija A and Karpov, Andrey B and Semenova, Yulia V and Zhalsanova, Irina Z and Gomboeva, Densema E and Saik, Olga V and Zolotareva, Olga I and Ivanisenko, Vladimir A and Dosenko, Victor E and Hofestaedt, Ralf and Freidin, Maxim B
Journal of Integrative Bioinformatics, ISSN 1613-4516, 12/2018, Volume 15, Issue 4
Comorbidity, a co-incidence of several disorders in an individual, is a common phenomenon. Their development is governed by multiple factors, including genetic... 
Hypertension | eQTL | SNP | Comorbidity | Bronchial Asthma
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6. Full Text Impact of the Polymorphism of the PACRG and CD80 Genes on the Development of the Different Stages of Tuberculosis Infection
by Bragina, Elena Yu and Babushkina, Nadezhda P and Garaeva, Anna F and Rudko, Alexey A and Tsitrikov, Dmitry Yu and Gomboeva, Densema E and Freidin, Maxim B
Iranian journal of medical sciences, ISSN 0253-0716, 05/2019, Volume 44, Issue 3, pp. 236 - 244
Tuberculosis (TB) is one of the most significant health-care problems worldwide. The host's genetics play an important role in the development of TB in humans.... 
Prevention | Care and treatment | Tuberculosis | Patient outcomes | Analysis | Development and progression | Genetic aspects | Disease susceptibility | Diagnosis | Single nucleotide polymorphisms | Research | Polymorphism, single nucleotide | Original | Polymorphism, genetic
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7. Full Text Search for New Candidate Genes Involved in the Comorbidity of Asthma and Hypertension Based on Automatic Analysis of Scientific Literature
by Saik, Olga V and Demenkov, Pavel S and Ivanisenko, Timofey V and Bragina, Elena Yu and Freidin, Maxim B and Dosenko, Victor E and Zolotareva, Olga I and Choynzonov, Evgeniy L and Hofestaedt, Ralf and Ivanisenko, Vladimir A
Journal of Integrative Bioinformatics, ISSN 1613-4516, 12/2018, Volume 15, Issue 4
Comorbid states of diseases significantly complicate diagnosis and treatment. Molecular mechanisms of comorbid states of asthma and hypertension are still... 
ANDSystem | comorbid disease | dynamics of interest of genes in publications | gene prioritization | asthma | hypertension | associative gene network
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8. Full Text Analysis of association between cytokine gene polymorphisms and psoriatic disease in Russians of East Siberia
by Smolnikova, Marina V and Freidin, Maxim B and Barilo, Anna A and Smirnova, Svetlana V
Meta Gene, ISSN 2214-5400, 02/2019, Volume 19, pp. 60 - 64
Psoriasis (PS) and psoriatic arthritis (PsA) are subtypes of psoriatic disease (PD), a chronic inflammatory disorder with predominantly cutaneous... 
Psoriatic disease | Psoriasis | Cytokines | Haplotype | Psoriatic arthritis
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9. Full Text Opisthorchiasis: An Overlooked Danger
: e0003563
by Ludmila M Ogorodova and Olga S Fedorova and Banchob Sripa and Viatcheslav A Mordvinov and Aleksei V Katokhin and Jennifer Keiser and Peter Odermatt and Paul J Brindley and Oleg A Mayboroda and Thirumalaisamy P Velavan and Maxim B Freidin and Alexey E Sazonov and Irina V Saltykova and Mariya Y Pakharukova and Yulia V Kovshirina and Kostas Kaloulis and Olga Y Krylova and Maria Yazdanbakhsh and the TOPIC Consortium
PLoS Neglected Tropical Diseases, ISSN 1935-2727, 04/2015, Volume 9, Issue 4
  [...]important gaps remain and, in particular, there is a paucity of information regarding O. felineus. [...]an initiative was taken to organize a meeting in... 
Studies | Industrial development | Infectious diseases | Meetings | Technology transfer | Infections | Parasites | Grants | Pharmaceutical industry | Epidemiology | Public health | Cancer
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10. Full Text Novel childhood asthma genes interact within uteroand early-life tobacco smoke exposure
by Salome Scholtens and Dirkje S Postma and Miriam F Moffatt and Sviatlana Panasevich and Raquel Granell and A John Henderson and Erik Melén and Fredrik Nyberg and Göran Pershagen and Deborah Jarvis and Adaikalavan Ramasamy and Matthias Wjst and Cecilie Svan es and Emmanuelle Bouzigon and Florence Demenais and Francine Kauffmann and Valérie Siroux and Erika von Mutius and Markus Johannes Ege and Charlotte Braun-Fahrländer and Jon Genuneit and Bert Brunekreef and Henriette A Smit and Alet H Wijga and Marjan Kerkhof and Ivan Curjuric and Medea Imboden and Gian A Thun and Nicole Probst-Hensch and Maxim B Freidin and Elena Iu Bragina and IA Deev and VP Puzyrev and Denise Daley and Julie Park and Allan Becker and Moira Chan-Yeung and Anita L Kozyrskyj and Peter Pare and Ingo Marenholz and Susanne Lau and Thomas Keil and Young-Ae Lee and Michael Kabesch and Cisca Wijmenga and Lude Franke and Ilja M Nolte and Judith Vonk and Ashish Kumar and Martin Farrall and William OCM Cookson and David P Strachan and Gerard H Koppelman and H Marike Boezen
Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 03/2014, Volume 133, Issue 3, p. 885
  EPB41L3 belongs to the protein 4.1 family of membrane-associated proteins, is involved in cell-cell junctions,2 and might play a role in apoptosis.3 The... 
Studies | Tobacco smoke | Genes | Genomes | Chromosomes | Apoptosis | Smoking | Meta-analysis
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11. Full Text Association of raynaud’s phenomenon with a polymorphism in the NOS1 gene
by Munir, Sabrina and Freidin, Maxim B and Brain, Susan and Williams, Frances M. K
PLoS ONE, ISSN 1932-6203, 04/2018, Volume 13, Issue 4, p. e0196279
Background Raynaud’s phenomenon (RP) describes the phenomenon of recurrent vasospasm of digital arteries, associated with skin colour changes: pallor, cyanosis... 
Genes | Linkage disequilibrium | Population studies | Genomes | Single-nucleotide polymorphism | Gene polymorphism | Epidemiology | Arteries | Data bases | Transient receptor potential proteins | Regression models | Databases | Cyanosis | Population | Background radiation | Permutations | Cold | Serotonin | Vasoconstriction | Rheumatology | Genetic diversity | Regression analysis | Gene expression | Nitric-oxide synthase | Studies | Brain research | Skin | Erythema | Polymorphism
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12. Full Text Circulating tumor DNA outperforms circulating tumor cells for KRAS mutation detection in thoracic malignancies
by Freidin, Maxim B and Freydina, Dasha V and Leung, Maria and Fernandez, Angeles Montero and Nicholson, Andrew G and Lim, Eric
Clinical Chemistry, ISSN 0009-9147, 10/2015, Volume 61, Issue 10, pp. 1299 - 1304
BACKGROUND: Circulating biomarkers, such as circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA), are both considered for blood-based mutation... 
BREAST-CANCER | LIQUID BIOPSY | RESOLUTION MELTING ANALYSIS | ENRICHMENT | COLD-PCR | MEDICAL LABORATORY TECHNOLOGY | BLOOD | Lung Neoplasms - genetics | ras Proteins - genetics | Lung - pathology | Proto-Oncogene Proteins p21(ras) | Neoplastic Cells, Circulating - pathology | Humans | Middle Aged | Lung Neoplasms - pathology | Male | Proto-Oncogene Proteins - genetics | DNA Mutational Analysis - methods | DNA, Neoplasm - blood | Sensitivity and Specificity | Female | Aged | Lung - metabolism | Mutation | Biomarkers | Lung cancer | Cells | Deoxyribonucleic acid--DNA | Tumors | Index Medicus
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13. Full Text Vertebral Endplate Defect as Initiating Factor in Intervertebral Disc Degeneration
by Rade, Marinko and Määttä, Juhani H and Freidin, Maxim B and Airaksinen, Olavi and Karppinen, Jaro and Williams, Frances M. K
Spine, ISSN 0362-2436, 03/2018, Volume 43, Issue 6, pp. 412 - 419
total endplate score | intervertebral disc | magnetic resonance imaging | TwinsUK | TEP score | disc degeneration | lumbar spine | Pfirrmann | endplate | twin
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14. Full Text Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks
by Demenais, Florence and Margaritte-Jeannin, Patricia and Barnes, Kathleen C and Cookson, William O. C and Altmüller, Janine and Ang, Wei and Barr, R. Graham and Beaty, Terri H and Becker, Allan B and Beilby, John and Bisgaard, Hans and Bjornsdottir, Unnur Steina and Bleecker, Eugene and Bønnelykke, Klaus and Boomsma, Dorret I and Bouzigon, Emmanuelle and Brightling, Christopher E and Brossard, Myriam and Brusselle, Guy G and Burchard, Esteban and Burkart, Kristin M and Bush, Andrew and Chan-Yeung, Moira and Chung, Kian Fan and Couto Alves, Alexessander and Curtin, John A and Custovic, Adnan and Daley, Denise and De Jongste, Johan C and Del-Rio-Navarro, Blanca E and Donohue, Kathleen M and Duijts, Liesbeth and Eng, Celeste and Eriksson, Johan G and Farrall, Martin and Fedorova, Yuliya and Feenstra, Bjarke and Ferreira, Manuel A and Freidin, Maxim B and Gajdos, Zofia and Gauderman, Jim and Gehring, Ulrike and Geller, Frank and Genuneit, Jon and Gharib, Sina A and Gilliland, Frank and Granell, Raquel and Graves, Penelope E and Gudbjartsson, Daniel F and Haahtela, Tari and Heckbert, Susan R and Heederik, Dick and Heinrich, Joachim and Heliövaara, Markku and Henderson, John and Himes, Blanca E and Hirose, Hiroshi and Hirschhorn, Joel N and Hofman, Albert and Holt, Patrick and Hottenga, Jouke and Hudson, Thomas J and Hui, Jennie and Imboden, Medea and Ivanov, Vladimir and Jaddoe, Vincent W. V and James, Alan and Janson, Christer and Jarvelin, Marjo-Riitta and Jarvis, Deborah and Jones, Graham and Jonsdottir, Ingileif and Jousilahti, Pekka and Kabesch, Michael and Kähönen, Mika and Kantor, David B and Karunas, Alexandra S and Khusnutdinova, Elza and Koppelman, Gerard H and Kozyrskyj, Anita L and Kreiner, Eskil and Kubo, Michiaki and Kumar, Rajesh and Kumar, Ashish and Kuokkanen, Mikko and Lahousse, Lies and Laitinen, Tarja and Laprise, Catherine and Lathrop, Mark and Lau, Susanne and Lee, Young-Ae and Lehtimäki, Terho and Letort, Sébastien and Levin, Albert M and Li, Guo and Liang, Liming and Loehr, Laura R and London, Stephanie J and Loth, Daan W and Manichaikul, Ani and ... and Australian Asthma Genetics Consort and Australian Asthma Genetics Consortium (AAGC) collaborators and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Lung- allergi- och sömnforskning and Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm and Uppsala universitet and Institutionen för medicinska vetenskaper and Centrum för klinisk forskning i Sörmland (CKFD)
Nature Genetics, ISSN 1061-4036, 01/2018, Volume 50, Issue 1, pp. 42 - 50
We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538... 
METAANALYSIS | TWINS | VARIANTS | GENE | GENETICS & HEREDITY | POPULATIONS | HAY-FEVER | AUTOIMMUNE-DISEASE | EXPRESSION | GENOME-WIDE ASSOCIATION | Promoter Regions, Genetic | Genetic Predisposition to Disease | Genome-Wide Association Study | Rhinitis, Allergic, Seasonal - genetics | Asthma - ethnology | Epigenesis, Genetic | Humans | Risk | Genetic Loci | Asthma - genetics | Phenotype | Enhancer Elements, Genetic | Alleles | Asthma - immunology | Histone Code | Leukocytes - metabolism | Research | Genomics | Risk factors | Asthma | Disease | Systematic review | Genomes | Gene expression | Loci | Inflammatory diseases | Hay fever | Meta-analysis | Immune systems | Studies | Genetic variance | Pleiotropy | Autoimmune diseases | Bioinformatics | Index Medicus | Genetik | Biological Sciences | Genetics | Naturvetenskap | Natural Sciences | Biologiska vetenskaper
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15. Using omics in chronic pain conditions to delineate mechanisms and provide new therapeutic strategies
by Freidin, Maxim B and Lauc, Gordan and Allegri, Massimo and Primorac, Dragan and Williams, Frances M K
Pain management, 2016, Volume 6, Issue 3, p. 211
Chronic Pain - therapy | Computational Biology - methods | Humans | Chronic Pain - physiopathology | Genome-Wide Association Study - methods | Genomics - methods | Metabolomics - methods
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16. Full Text Strong association between vertebral endplate defect and Modic change in the general population
by Määttä, Juhani H and Rade, Marinko and Freidin, Maxim B and Airaksinen, Olavi and Karppinen, Jaro and Williams, Frances M. K
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 16630 - 8
Modic change (MC) is considered an independent risk factor for low back pain (LBP) but its aetiology remains unclear. In this cross-sectional, large-scale... 
RISK-FACTORS | MARROW | LOW-BACK-PAIN | MULTIDISCIPLINARY SCIENCES | LUMBAR SPINE | DISEASE | TISSUE | HERNIATION | INTERVERTEBRAL DISC DEGENERATION | ADJACENT | BODY | Vertebrae | Pain | Low back pain | Population | Population studies | Degeneration | Intervertebral discs | Defects
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17. Full Text Identification of a new locus at 16q12 associated with time to asthma onset
by Sarnowski, Chloé, PhD and Sugier, Pierre-Emmanuel, MSc and Granell, Raquel, PhD and Jarvis, Debbie, MD and Dizier, Marie-Hélène, PhD and Ege, Markus, MD and Imboden, Medea, PhD and Laprise, Catherine, PhD and Khusnutdinova, Elza K., PhD and Freidin, Maxim B., PhD and Cookson, William O.C., MD, DPhil and Moffatt, Miriam, DPhil and Lathrop, Mark, PhD and Siroux, Valérie, PhD and Ogorodova, Ludmila M., MD, PhD and Karunas, Alexandra S., MD, PhD and James, Alan, MD and Probst-Hensch, Nicole M., PhD and von Mutius, Erika, MD and Pin, Isabelle, MD, PhD and Kogevinas, Manolis, MD, PhD and Henderson, A. John, MD and Demenais, Florence, MD and Bouzigon, Emmanuelle, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 1071 - 1080
Background Asthma is a heterogeneous disease in which age of onset plays an important role. Objective We sought to identify the genetic variants associated... 
Allergy and Immunology | CYLD | genetics | survival analysis | genome-wide association study | conditional analysis | NOD2 | Asthma | age of onset | VARIANTS | SUSCEPTIBILITY LOCI | ALLERGIC RHINITIS | PHENOTYPES | IMMUNOLOGY | CHILDHOOD ASTHMA | INFLAMMATORY-BOWEL-DISEASE | ALLERGY | NF-KAPPA-B | EXPRESSION | GENOME-WIDE ASSOCIATION | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Deubiquitinating Enzyme CYLD | Humans | Genotype | Male | Nod2 Signaling Adaptor Protein - genetics | Asthma - genetics | Genetic Variation | Tumor Suppressor Proteins - genetics | Adolescent | Age of Onset | Female | Child | Chromosomes, Human, Pair 16 - genetics | Research institutes | Epidemiology | Public health | Medical genetics | Analysis | Studies | Consortia | Genealogy | Software | Genomes | Age | Meta-analysis | Index Medicus | Abridged Index Medicus | Life Sciences | Genetics
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