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36 documents found
1: Title: Array-based DNA methylation profiling reveals peripheral blood differential methylation in male infertility.
Authors: Sarkar, Saumya, et.al. .
Journal: Fertility and sterility (Fertil Steril), 2019 .
Snippet: A thorough literature search suggested that 38 genes play roles in spermatogenesis (PDHA2, PARP12, FHIT, RPTOR, GSTM1, GSTM5, MAGI2, BCAN, DDB2, KDM4C, AGPAT3, CAMTA1, CCR6, CUX1, DNAH17, ELMO1, FNDC3B, GNRHR, HDAC4, IRS2, LIF, SMAD3, SOD3, TALDO1, TRIM27, GAA, PAX8, RNF39, HLA-C, HLA-DRB6), are testis enriched (NFATC1, NMNAT3, PIAS2, SRPK2, WDR36, WWP2), or show methylation differences between infertile cases and controls (PTPRN2, RPH3AL).
Affiliation: Division of Endocrinology, Central Drug Research Institute, Lucknow, India. Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India. CSIR-Institute of Genomics and Integrative Biology, New Delhi, India; Mammalian Genetics Unit, MRC Harwell Institute, Harwell Science and Innovation Campus, Oxfordshire, United Kingdom. Department of Urology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India. Division of Endocrinology, Central Drug Research Institute, Lucknow, India. Electronic address: rajender_singh@cdri.res.in. .
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2: Title: Development of a multiplexed tumor-associated autoantibody-based blood test for the detection of colorectal cancer.
Authors: Fan, Chung-Wei, et.al. .
Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta), Vol. 475, 2017 .
Snippet: METHODS: In total, 192 serum samples (92 CRC and 100 matched controls) were tested against a panel of 12 tumor-associated antigens (TAAs): RPH3AL, RPL36, SLP2, p53, survivin, ANAXA4, SEC61B, CCCAP, NYCO16, NMDAR, PLSCR1, and HDAC5.
Affiliation: Division of Colorectal Surgery, Chang Gung Memorial Hospital, Keelung and Chang Gung University, College of Medicine, Taoyuan, Taiwan. Genpronex Biomedical Inc, Taiwan. Division of Colon and Rectal Surgery, Department of Surgery, Chang Gung Memorial Hospital, Linkou, Taiwan. Department of Medical Biotechnology and Laboratory Science, Chang Gung University, Taoyuan, Taiwan. State Key Laboratory of Cellular Stress Biology, Innovation Center for Cell Signaling Network, School of Life Sciences, Xiamen University, Xiamen, Fujian, China. Division of Colon and Rectal Surgery, Department of Surgery, Chang Gung Memorial Hospital, Linkou, Taiwan; Department of Medical Biotechnology and Laboratory Science, Chang Gung University, Taoyuan, Taiwan. Electronic address: chanec@mail.cgu.edu.tw. .
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3: Title: Rab2a and Rab27a cooperatively regulate the transition from granule maturation to exocytosis through the dual effector Noc2.
Authors: Matsunaga, Kohichi, et.al. .
Journal: Journal of cell science (J Cell Sci), Vol. 130 (3): 541-550, 2017 .
Snippet: Here, we demonstrate that these two small GTPases simultaneously bind to Noc2 (also known as RPH3AL) in a GTP-dependent manner, although Rab2a binds only after Rab27a has bound.
Affiliation: Laboratory of Molecular Endocrinology and Metabolism, Department of Molecular Medicine, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi 371-8512, Japan. Department of Chemistry, Graduate School of Science, Tokyo Metropolitan University, Hachioji, Tokyo 192-0397, Japan. Laboratory of Molecular Endocrinology and Metabolism, Department of Molecular Medicine, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi 371-8512, Japan tizumi@gunma-u.ac.jp. Research Program for Signal Transduction, Division of Endocrinology, Metabolism and Signal Research, Gunma University Initiative for Advanced Research, Gunma University, Maebashi 371-8512, Japan. .
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4: Title: Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer.
Journal: PloS one, Vol. 10 (6): e0129216, 2015 .
Snippet: Analyses of RPH3AL identified missense point mutations in 19 of 125 cases, a SNP (C>A) in the 5'untranslated region at -25 (5'UTR-25) in 26 of 104, and a SNP (G>T) in the intronic region at 43 bp downstream to exon-6 (intron-6-43) in 79 of 118.
Affiliation: Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America. Department of Epidemiology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America. Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, United States of America. Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America; Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America. Department of Pathology, University of Alabama at Birmingham, Birmingham, Alabama, United States of America; Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, Alabama, United States of America. .
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5: Title: Insulin regulates Rab3-Noc2 complex dissociation to promote GLUT4 translocation in rat adipocytes.
Authors: Koumanov, Francoise, et.al. .
Journal: Diabetologia, Vol. 58 (8): 1877-86, 2015 .
Snippet: AIMS/HYPOTHESIS: The glucose transporter GLUT4 is present mainly in insulin-responsive tissues of fat, heart and skeletal muscle and is translocated from intracellular membrane compartments to the plasma membrane (PM) upon insulin stimulation.
Affiliation: Department of Biology and Biochemistry, University of Bath, Bath, BA2 7AY, UK. .
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6: Title: Borderline personality disorder and childhood maltreatment: a genome-wide methylation analysis.
Authors: Prados, J, et.al. .
Journal: Genes, brain, and behavior (Genes Brain Behav), Vol. 14 (2): 177-88, 2015 .
Snippet: Several CpGs within or near the following genes (IL17RA, miR124-3, KCNQ2, EFNB1, OCA2, MFAP2, RPH3AL, WDR60, CST9L, EP400, A2ML1, NT5DC2, FAM163A and SPSB2) were found to be differently methylated, either in BPD compared with MDD or in relation to the severity of childhood maltreatment.
Affiliation: Department of Psychiatry, University of Geneva, Switzerland. .
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7: Title: Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter.
Authors: Park, Chang-Hun, et.al. .
Journal: Gene, Vol. 537 (2): 343-7, 2014 .
Snippet: Trisomy of the short arm of chromosome 17 (T17P) is a genomic disorder presenting with growth retardation, motor and mental retardation and constitutional physical anomalies including congenital heart defects.
Affiliation: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address: sunnyhk@skku.edu. .
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8: Title: A novel function of Noc2 in agonist-induced intracellular Ca2+ increase during zymogen-granule exocytosis in pancreatic acinar cells.
Authors: Ogata, Sho, et.al. .
Journal: PloS one, Vol. 7 (5): e37048, 2012 .
Snippet: We propose that in pancreatic acinar cells, Noc2 is not indispensable for the membrane fusion of ZG per se, but instead performs a novel function favoring agonist-induced physiological [Ca(2+)](i) increases.
Affiliation: Department of Cell Physiology, National Institute for Physiological Sciences, and Graduate University of Advanced Studies, SOKENDAI, Okazaki, Aichi, Japan. sogata@ndmc.ac.jp .
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9: Title: SNP array profiling of childhood adrenocortical tumors reveals distinct pathways of tumorigenesis and highlights candidate driver genes.
Authors: Letouzé, Eric, et.al. .
Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab), Vol. 97 (7): E1284-93, 2012 .
Snippet: Focal amplifications and homozygous deletions comprising well-known oncogenes (MYC, MDM2, PDGFRA, KIT, MCL1, BCL2L1) and tumor suppressors (TP53, RB1, RPH3AL) were identified.
Affiliation: Program Cartes d'Identité des Tumeurs, Ligue Nationale Contre Le Cancer, 14 rue Corvisart, 75013 Paris, France. LetouzeE@ligue-cancer.net .
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10: Title: Detection of autoantibodies against Rabphilin-3A-like protein as a potential biomarker in patient's sera of colorectal cancer.
Authors: Chen, Jinn-Shiun, et.al. .
Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta), Vol. 412 (15-16): 1417-22, 2011 .
Snippet: BACKGROUND: Rabphilin-3A-like (RPH3AL) protein functions in the regulation of hormone exocytosis, and mutations in the RPHA3L gene have been associated with tumorigenesis in colorectal cancer (CRC).
Affiliation: Department of Colorectal Surgery, Chang Gung Memorial Hospital, Tao Yuan, Taiwan. .
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11: Title: A manual collection of Syt, Esyt, Rph3a, Rph3al, Doc2, and Dblc2 genes from 46 metazoan genomes--an open access resource for neuroscience and evolutionary biology.
Journal: BMC genomics, Vol. 11, 2010 .
Snippet: With reference to this gene collection, functional relationships among Syt, Esyt, Rph3a, Rph3al, Doc2 and Dblc2 genes, which encode similar proteins, can better be assessed in future.
Affiliation: Medical Research Council Laboratory of Molecular Biology, Hills Road, Cambridge CB20QH, UK. mollycraxton@btinternet.com .
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12: Title: Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.
Authors: Surace, C, et.al. .
Journal: Clinical genetics (Clin Genet), Vol. 76 (3): 256-62, 2009 .
Snippet: METRNL is the sole gene located on the q-arm terminal end, whereas two open reading frames and the RPH3AL gene are located on the terminal p-arm.
Affiliation: Dipartimento dei Laboratori, U.O. Anatomia Patologica, Struttura Semplice di Citogenetica e Genetica Molecolare, Ospedale Pediatrico Bambino Gesù, 00165 Roma, Italy. cecilia.surace@opbg.net .
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13: Title: Polymorphisms in the IBD5 locus are associated with Crohn disease in pediatric Ashkenazi Jewish patients.
Authors: Tomer, Gitit, et.al. .
Journal: Journal of pediatric gastroenterology and nutrition (J Pediatr Gastroenterol Nutr), Vol. 48 (5): 531-7, 2009 .
Snippet: Patients with CD who had the OCTN1 susceptibility allele were more likely to carry 1 of the 3 NOD2/CARD15 SNPs tested (P = 0.01; odds ratio = 4.8).
Affiliation: Department of Gastroenterology, Hepatology, and Nutrition, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, MLC 2010, Cincinnati, OH 45229, USA. gitit.tomer@cchmc.org .
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14: Title: Immunohistochemical expression of rabphilin-3A-like (Noc2) in normal and tumor tissues of human endocrine pancreas.
Authors: Shanmugam, C, et.al. .
Journal: Biotechnic & histochemistry : official publication of the Biological Stain Commission (Biotech Histochem), Vol. 84 (2): 39-45, 2009 .
Snippet: Involvement of rabphilin-3A-like (RPH3AL), or Noc2, the potential effector of Ras-associated binding proteins Rab3A and Rab27A in the regulation of exocytotic processes in the endocrine pancreas has been demonstrated in experimental models.
Affiliation: Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294-7331, USA. .
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15: Title: Differential expression of the regulated catecholamine secretory pathway in different hereditary forms of pheochromocytoma.
Authors: Eisenhofer, Graeme, et.al. .
Journal: American journal of physiology. Endocrinology and metabolism (Am J Physiol-endoc M), Vol. 295 (5): E1223-33, 2008 .
Snippet: Compared with tumors from MEN 2 patients, those from VHL patients were characterized by reduced expression of numerous components of the regulated secretory pathway (e.g., SNAP25, syntaxin, rabphilin 3A, annexin A7, calcium-dependent secretion activator).
Affiliation: Institute of Clinical Chemistry and Laboratory Medicine, University of Dresden, Dresden, Germany. Graeme.Eisenhofer@uniklinikum-dresden.de .
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16: Title: The Rab27 effector Rabphilin, unlike Granuphilin and Noc2, rapidly exchanges between secretory granules and cytosol in PC12 cells.
Authors: Handley, Mark T W, et.al. .
Journal: Biochemical and biophysical research communications (Biochem Biophys Res Commun), Vol. 373 (2): 275-81, 2008 .
Snippet: Both Noc2 and Rabphilin were found to be recruited to granules by Rab27 but the data suggest that Rabphilin did not form stable complexes with Rab27 on secretory granules and so Rab effector cycling between membranes and cytosol can be independent of that of the Rab protein.
Affiliation: The Physiological Laboratory, School of Biomedical Sciences, University of Liverpool, Crown Street, Liverpool L693BX, UK. .
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17: Title: Regulation of the expression of components of the exocytotic machinery of insulin-secreting cells by microRNAs.
Authors: Lovis, Pascal, et.al. .
Journal: Biological chemistry (Biol Chem), Vol. 389 (3): 305-12, 2008 .
Snippet: Our data identify miR124a and miR96 as novel regulators of the expression of proteins playing a critical role in insulin exocytosis and in the release of other hormones and neurotransmitters.
Affiliation: Department of Cell Biology and Morphology, Faculty of Biology and Medicine, University of Lausanne, CH-1005 Lausanne, Switzerland. .
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18: Title: Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma.
Authors: Katkoori, Venkat R, et.al. .
Journal: Frontiers in bioscience : a journal and virtual library (Front Biosci), Vol. 13, 2008 .
Snippet: Since, we observed a higher incidence of a single nucleotide polymorphism (SNP) at the -25 position in the 5'untranslated region (5'UTR-25) of RPH3AL, we performed the genotyping analysis of this SNP in a retrospective CRC cohort (n=134) to assess their clinical importance.
Affiliation: Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294-7331, USA. .
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19: Title: Physiological roles of Rab27 effectors in regulated exocytosis.
Journal: Endocrine journal (Endocr J), Vol. 54 (5): 649-57, 2007 .
Snippet: Recent discoveries that Rab27a/b and their multiple effectors are involved in the regulated exocytosis of lysosome-related organelles and secretory granules have generated numerous related studies.
Affiliation: Department of Molecular Medicine, Institute for Molecular and Cellular Regulation, Gunma University. .
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20: Title: Functional involvement of Noc2, a Rab27 effector, in rat parotid acinar cells.
Authors: Imai, Akane, et.al. .
Journal: Archives of biochemistry and biophysics (Arch Biochem Biophys), Vol. 455 (2): 127-35, 2006 .
Snippet: In addition, the anti-Noc2-Rab-binding-domain antibody inhibited IPR-stimulated amylase release from streptolysin O-permeabilized parotid acinar cells.
Affiliation: Department of Biochemistry, The Nippon Dental University, School of Life Dentistry at Niigata, 1-8 Hamaura-cho, Niigata 951-8580, Japan. imaiak@ngt.ndu.ac.jp .
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