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36 documents found
1: Title: Non-coding and coding genomic variants distinguish prostate cancer, castration-resistant prostate cancer, familial prostate cancer, and metastatic castration-resistant prostate cancer from each other.
Authors: Alanazi, Ibrahim O, et.al. .
Journal: Molecular carcinogenesis (Mol Carcinog), 2019 .
Snippet: Interestingly, all of EGFR, JAK2, NR3C1, PDZD2, and SEMA3C genes had single nucleotide polymorphisms (SNP) in castration-resistant prostate cancer, consistent with high selection pressure on these genes during drug treatment and consequent resistance.
Affiliation: National Center for Biotechnology, Life Science and Environment Research Institute, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia. Clinical Laboratory Department, College of Applied Medical Sciences, Shaqra University, KSA, Al dawadmi, Saudi Arabia. Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia. School of Information Technology and Mathematical Sciences, Division of Information Technology, Engineering and the Environment, The University of South Australia, Adelaide, SA, Australia. Institute of Biotechnology, Shiraz University, Shiraz, Iran. Faculty of Science and Engineering, School of Biological Sciences, Flinders University, Adelaide, SA, Australia. Australian Centre for Antimicrobial Resistance Ecology, School of Animal and Veterinary Sciences, The University of Adelaide, South Australia, Australia. .
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2: Title: Association between pathologic factors and ERG expression in prostate cancer: finding pivotal networking.
Authors: Lee, Seung-Ryeol, et.al. .
Journal: Journal of cancer research and clinical oncology (J Cancer Res Clin Oncol), 2018 .
Snippet: Regulatory network analysis identified NOTCH1, MEF2C, STAT3, LCK, CACNA2D3, PCSK7, MEF2A, PDZD2, TAB1, and ASGR1 as pivotal genes.
Affiliation: Department of Urology, CHA Bundang Medical Center, CHA University College of Medicine, Seongnam, South Korea. Department of Urology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, South Korea. Department of Urology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, South Korea. youngd74@yuhs.ac. Department of Pathology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, South Korea. CHO1988@yuhs.ac. .
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3: Title: A Genome-wide Association Study in Hispanics/Latinos Identifies Novel Signals for Lung Function. The Hispanic Community Health Study/Study of Latinos.
Authors: Burkart, Kristin M, et.al. .
Journal: American journal of respiratory and critical care medicine (Am J Respir Crit Care Med), 2018 .
Snippet: A novel locus for FEV1 identified among ever smokers (rs291231; p=1.92×10-8) approached statistical significance for replication in admixed populations of African ancestry and a novel SNP for COPD in PDZD2 (rs7709630; p=1.56×10-8) regionally replicated.
Affiliation: Columbia University, Department of Medicine, New York, New York, United States ; kb2319@cumc.columbia.edu. Brigham and Women's Hospital and Harvard Medical School, Medicine, Boston, Massachusetts, United States. NIH, RTP, North Carolina, United States. University of Virginia, Center for Public Health Genomics, Charlottesville, Virginia, United States. Postgraduate Program in Epidemiology, Federal University of Pelotas, Pelotas, Brazil. Children's Hospital of Pittsburgh, Division of Pediatric Pulmonary Medicine, Allergy and Immunology, Pittsburgh, Pennsylvania, United States. University of Leicester, Leicester, United Kingdom of Great Britain and Northern Ireland. Hospital Nacional de Ninos, Pediatric Pulmonology, San Jose, Costa Rica. University of Pittsburgh, Pediatrics, Pittsburgh, Pennsylvania, United States. University of North Carolina, Biostatistics, Chapel Hill, North Carolina, United States. Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States. University Hospital, Nottingham, Nottingham, United Kingdom of Great Britain and Northern Ireland. Albert Einstein College of Medicine, Department of Epidemiology and Population Health, Bronx, New York, United States. University of Washington, Department of Biostatistics, Seattle, Washington, United States. Universidade Federal de Pelotas, 37902, Programa de Pós-Graduacão em Epidemiologia, Pelotas, Brazil. University of Chicago, Department of Human Genetics and Statistics, Chicago, United States. Columbia University, Medicine, New York, New York, United States. Children's Hospital at Montefiore, Albert Einstein College of Medicine, Pediatrics, Bronx, New York, United States. Hospital Nacional de Ninos, Division of Pediatric Pulmonology, San Jose, Costa Rica. Centro Neumologia Pediatrica, Neumologia pediatrica, San Jose, San Jose, Costa Rica. University of Leicester Medical School, 12213, Genetic Epidemiology Group, Department of Health Sciences, Leicester, United Kingdom of Great Britain and Northern Ireland. National Institute for Health Research (NIHR) Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom of Great Britain and Northern Ireland. University of Pittsburgh School of Medicine, Pediatric Pulmonary Medicine, Allergy and Immunology, Pittsburgh, Pennsylvania, United States. Columbia University, Department of Medicine and Department of Epidemiology, New York, New York, United States. .
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4: Title: Sacral agenesis: a pilot whole exome sequencing and copy number study.
Authors: Porsch, Robert M, et.al. .
Journal: BMC medical genetics (Bmc Med Genet), Vol. 17 (1): 98, 2016 .
Snippet: RESULTS: In this pilot study, exome sequencing and copy number variation (CNV) analyses implicate a number of candidate genes, including SPTBN5, MORN1, ZNF330, CLTCL1 and PDZD2.
Affiliation: Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. Istituto Giannina Gaslini, Genoa, Italy. Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. AbaCid-Genética. Grupo HM Hospitales, Madrid, Spain. Centre for Reproduction, Development, and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. State Key Laboratory of Brain and Cognitive Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. Istituto Giannina Gaslini, Genoa, Italy. valeriacapra@ospedale-gaslini.ge.it. Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. mmgarcia@hku.hk. Centre for Reproduction, Development, and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. mmgarcia@hku.hk. The Hong Kong Jockey Club Building for Interdisciplinary Research, 5 Sassoon Road, Pokfulam, Hong Kong, People's Republic of China. mmgarcia@hku.hk. Department of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. ddc123@hku.hk. Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR. ddc123@hku.hk. .
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5: Title: Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population.
Authors: Zhang, Ning, et.al. .
Journal: Oncotarget, Vol. 8 (15): 24196-24201, 2017 .
Snippet: To conclude, genetic variations in PDZD2 and ITPR2 are ccRCC-risk associated in Chinese population.
Affiliation: Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China. Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China. Department of Urology, Sun Yat-sen Memorial Hospital, Sun Yet-sen University, Guandong, PR China. State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, PR China. Center for Genetic Epidemiology, School of Life Sciences, Fudan University, Shanghai, PR China. Health Communication Institute, School of Public Health, Fudan University, Shanghai, PR China. Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL, USA. .
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6: Title: A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs.
Authors: Wakil, Salma M, et.al. .
Journal: Atherosclerosis, Vol. 245, 2016 .
Snippet: Several SNPs, including the rs7421388 (PLCL1) and rs12541758 (TRPA1) displaying a suggestive GWAS association (P < 1 × 10(-5)) with CAD as well as rs41411047 (RNF13), rs32793 (PDZD2) and rs4739066 (YTHDF3), similarly showing weak association with MI, were confirmed in an independent dataset.
Affiliation: Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Harry Perkins Institute of Medical Research, University of Western Australia, Australia. King Faisal Heart Institute, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address: dzimiri@kfshrc.edu.sa. .
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7: Title: Exome and regulatory element sequencing of neuromyelitis optica patients.
Authors: Siuko, Mika, et.al. .
Journal: Journal of neuroimmunology (J Neuroimmunol), Vol. 289, 2015 .
Snippet: Four missense variants were shared by two patients in C3ORF20, PDZD2, C5ORF47 and ZNF606.
Affiliation: Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland. Electronic address: mika.siuko@helsinki.fi. Molecular Neurology Programme, Research Program Unit, Biomedicum, University of Helsinki, Helsinki, Finland. Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland; University of Helsinki, Helsinki, Finland. Department of Ophthalmology, Helsinki University Central Hospital, Helsinki, Finland. Genome Quebec Innovation Center, Canada. McGill University, Canada; Genome Quebec Innovation Center, Canada. Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland; Molecular Neurology Programme, Research Program Unit, Biomedicum, University of Helsinki, Helsinki, Finland; University of Helsinki, Helsinki, Finland. .
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8: Title: Whole genome and transcriptome sequencing of matched primary and peritoneal metastatic gastric carcinoma.
Authors: Zhang, J, et.al. .
Journal: Scientific reports (Sci Rep), Vol. 5, 2015 .
Snippet: We identified 27 mutated genes, of which 19 genes are reported in COSMIC database (ZNF208, CRNN, ATXN3, DCTN1, RP1L1, PRB4, PRB1, MUC4, HS6ST3, MUC17, JAM2, ITGAD, IREB2, IQUB, CORO1B, CCDC121, AKAP2, ACAN and ACADL), and eight genes have not previously been described in gastric cancer (CCDC178, ARMC4, TUBB6, PLIN4, PKLR, PDZD2, DMBT1and DAB1).Additionally,GPX4 and MPND in 19q13.3-13.4
Affiliation: Shanghai Institute of Digestive Surgery and Biobank of Gastrointestinal carcinoma, Lu Wan Qu, Shanghai, China. Collaborative Innovation Center of Systems Biomedicine, China. State Key Laboratory of Medical Genomics, Changsha City, Hunan Prov, China. Department of Pathology of Shanghai Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 200025, Shanghai, China. Department of Radiology of Shanghai Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 200025, Shanghai, China. Genome Center of WuXiAppTec (Shanghai) Co., Ltd. Shanghai, 200131, China. .
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9: Title: Colonic mucosal gene expression and genotype in irritable bowel syndrome patients with normal or elevated fecal bile acid excretion.
Authors: Camilleri, Michael, et.al. .
Journal: American journal of physiology. Gastrointestinal and liver physiology (Am J Physiol Gastrointest Liver Physiol), Vol. 309 (1): G10-20, 2015 .
Snippet: Our objectives were, first, to study mRNA expression [by RT(2) PCR of 19 genes pertaining to tight junctions, immune activation, intestinal ion transport and bile acid (BA) homeostasis] in RSM in IBS-D patients (n = 47) and healthy controls (n = 17) and study expression of a selected protein (PDZD3) in 10 IBS-D patients and 4 healthy controls; second, to assess RSM mRNA expression according to genotype and fecal BA excretion (high ≥ 2,337 μmol/48 h); and third, to determine whether genotype or mucosal mRNA expression is associated with colonic transit or BA parameters.
Affiliation: Clinical Enteric Neuroscience Translational and Epidemiological Research (C.E.N.T.E.R.), Mayo Clinic, Rochester, Minnesota camilleri.michael@mayo.edu. Clinical Enteric Neuroscience Translational and Epidemiological Research (C.E.N.T.E.R.), Mayo Clinic, Rochester, Minnesota. .
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10: Title: Temporal endogenous gene expression profiles in response to polymer-mediated transfection and profile comparison to lipid-mediated transfection.
Authors: Martin, Timothy M, et.al. .
Journal: The journal of gene medicine (J Gene Med), Vol. 17 (1-2): 33-53, 2015 Jan-Feb .
Snippet: RESULTS: Differentially expressed genes were RGS1, ARHGAP24, PDZD2, SNX24, GSN and IGF2BP1 after 2 h; RAP1A and ACTA1 after 8 h; RAP1A, WDR78 and ACTA1 after 16 h; and RAP1A, SCG5, ATF3, IREB2 and ACTA1 after 24 h.
Affiliation: Department of Pharmaceutical Sciences, Durham Research Center II, University of Nebraska-Medical Center, Omaha, NE, USA. .
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11: Title: Luteolin potentiates the sensitivity of colorectal cancer cell lines to oxaliplatin through the PPARγ/OCTN2 pathway.
Authors: Qu, Qiang, et.al. .
Journal: Anti-cancer drugs (Anticancer Drugs), Vol. 25 (9): 1016-27, 2014 .
Snippet: OCTN2 is regulated by peroxisome proliferator-activated receptor γ (PPARγ) binding to the PPAR-response element within the first intron.
Affiliation: aDepartment of Pharmacy bInstitute of Clinical Pharmacology, Hunan Key Laboratory of Pharmacogenetics cDepartment of Surgery, Xiangya Hospital, Central South University, Changsha, China. .
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12: Title: Novel genetic aberrations in breast phyllodes tumours: comparison between prognostically distinct groups.
Authors: Tan, Wai Jin, et.al. .
Journal: Breast cancer research and treatment (Breast Cancer Res Treat), Vol. 145 (3): 635-45, 2014 .
Snippet: RAF1 (3p25), EGFR (7p12) and PDZD2 (5p13.3).
Affiliation: Department of Pathology, Singapore General Hospital, 20 College Road, Academia, Diagnostics Tower, Singapore, 169856, Singapore. .
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13: Title: Structural genomic variation as risk factor for idiopathic recurrent miscarriage.
Authors: Nagirnaja, Liina, et.al. .
Journal: Human mutation (Hum Mutat), Vol. 35 (8): 972-82, 2014 .
Snippet: The CNV disrupts PDZD2 and GOLPH3 genes predominantly expressed in placenta and it may represent a novel risk factor for pregnancy complications.
Affiliation: Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia. .
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14: Title: Alternative polyadenylation of tumor suppressor genes in small intestinal neuroendocrine tumors.
Authors: Rehfeld, Anders, et.al. .
Journal: Frontiers in endocrinology (Front Endocrinol (lausanne)), Vol. 5, 2014 .
Snippet: Among these, 11 genes had been previously associated with cancer, with 4 genes being known tumor suppressors: DCC, PDZD2, MAGI1, and DACT2.
Affiliation: Center for Genomic Medicine, Rigshospitalet, University of Copenhagen , Copenhagen , Denmark. Department of Biology, The Bioinformatics Centre, University of Copenhagen , Copenhagen , Denmark. Department of Surgical Gastroenterology and Endocrinology, Rigshospitalet, University of Copenhagen , Copenhagen , Denmark. Department of Clinical Physiology, Nuclear Medicine and PET, Rigshospitalet, University of Copenhagen , Copenhagen , Denmark. .
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15: Title: Interaction of the human prostacyclin receptor and the NHERF4 family member intestinal and kidney enriched PDZ protein (IKEPP).
Authors: Reid, Helen M, et.al. .
Journal: Biochimica et biophysica acta (Biochim Biophys Acta), Vol. 1823 (10): 1998-2012, 2012 .
Snippet: Herein, intestinal and kidney enriched PDZ protein (IKEPP) was identified as an interactant of the human (h) IP mediated through binding of PDZ domain 1 (PDZ(D1)) and, to a lesser extent, PDZ(D2) of IKEPP to a carboxyl-terminal Class I 'PDZ ligand' within the hIP.
Affiliation: School of Biomolecular and Biomedical Sciences, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland. .
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16: Title: Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia.
Authors: Ritter, Benjamin P, et.al. .
Journal: Psychiatric genetics (Psychiatr Genet), Vol. 22 (1): 51-2, 2012 .
No Abstract available.
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17: Title: Pharmacogenetics: Anti-TNF therapy in RA--towards personalized medicine?
Journal: Nature reviews. Rheumatology (Nat Rev Rheumatol), Vol. 7 (3): 136-8, 2011 .
Snippet: A substantial proportion of patients with rheumatoid arthritis do not respond to tumor necrosis factor blocking therapy.
Affiliation: Departments of Pathology and Rheumatology, Section of Inflammatory Disease Profiling, VU University Medical Center, Amsterdam, The Netherlands. c.verweij@vumc.nl .
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18: Title: Genome-wide association study of genetic predictors of anti-tumor necrosis factor treatment efficacy in rheumatoid arthritis identifies associations with polymorphisms at seven loci.
Authors: Plant, Darren, et.al. .
Journal: Arthritis and rheumatism (Arthritis Rheum), Vol. 63 (3): 645-53, 2011 .
Snippet: The minor allele of rs1532269, mapping to the PDZD2 gene, was associated with a reduced treatment response (coefficient 0.20, P = 7.37(-04) ).
Affiliation: University of Manchester, Manchester, UK. .
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19: Title: The trafficking of Na(V)1.8.
Authors: Swanwick, Richard S, et.al. .
Journal: Neuroscience letters (Neurosci Lett), Vol. 486 (2): 78-83, 2010 .
Snippet: It has been reported that Na(V)1.8 is involved in the transmission of nociceptive information from sensory neurons to the central nervous system in nociceptive [1] and neuropathic [24] pain conditions.
Affiliation: Division of Cell & Molecular Biology, Imperial College London, London SW7 2AZ, UK. .
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20: Title: Increased basal insulin secretion in Pdzd2-deficient mice.
Authors: Tsang, S W, et.al. .
Journal: Molecular and cellular endocrinology (Mol Cell Endocrinol), Vol. 315 (1-2): 263-70, 2010 .
Snippet: Our results provide the first evidence that Pdzd2 is required for normal regulation of basal insulin secretion.
Affiliation: Department of Biochemistry, LKS Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, China. .
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