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150 documents found
1: Title: A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Authors: Lee, Eric, et.al. .
Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med), 2017 .
Snippet: Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre-Chotzen syndrome.
Affiliation: Genetics Laboratory, NSW Health Pathology East, Sydney, Australia. Newcastle GOLD Service, Hunter Genetics, Waratah, Australia. Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Australia. Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. The Children's Hospital at Westmead, Sydney, Australia. Department of Clinical Genetics, Austin Health, Melbourne, Australia. South Australian Clinical Genetics Service, SA Pathology, Adelaide, Australia. School of Medicine, The University of Adelaide, Adelaide, Australia. King Edward Memorial Hospital, Perth, Australia. Department of Clinical Genetics, Royal North Shore Hospital, Sydney, Australia. Imagine Institute of Genetic Diseases, Paris, France. Genetic Health Service New Zealand, Auckland, New Zealand. Department of Clinical Genetics, Liverpool Hospital, Sydney, Australia. Victorian Clinical Genetics Services, Melbourne, Australia. Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia. Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Brisbane Genetics, Brisbane, Australia. Genetic Health Service New Zealand, Christchurch Hospital, Christchurch, New Zealand. Royal Brisbane & Women's Hospital, Brisbane, Australia. Institute of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore, Rome, Italy. Department of Pediatrics, School of Medicine UC Davis MIND Institute, Sacramento, California, USA. Craniofacial Unit, Sydney Children's Hospital, Randwick, Australia. Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA. Neuroscience Research Australia and Prince.of Wales Clinical School, University of New South Wales, Sydney, Australia. .
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2: Title: Integrated analysis of microRNA and mRNA expression profiles in the rat spinal cord under inflammatory pain conditions.
Authors: Liu, Chien Cheng, et.al. .
Journal: The European journal of neuroscience (Eur J Neurosci), Vol. 46 (11): 2713-2728, 2017 .
Snippet: In the CFA 14d group, significant changes were noted in miR-124, miR-29, miR-34, miR-30, miR-338 and their target genes, TIMP2, CREB5 and EFNB1.
Affiliation: Department of Biological Sciences, National Sun Yat-sen University, No. 70, Lienhai Rd., Gushan Dist., Kaohsiung City, 80424, Taiwan. Department of Anesthesiology, E-Da Hospital/I-Shou University, Kaohsiung City, Taiwan. Department of Anesthesiology, Chi Mei Medical Center, No. 901, Zhonghua Rd., Yongkang Dist., Tainan City, 71004, Taiwan. .
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3: Title: Autonomous and non-autonomous roles for ephrin-B in interneuron migration.
Authors: Talebian, Asghar, et.al. .
Journal: Developmental biology (Dev Biol), 2017 .
Snippet: We identify here an autonomous receptor-like role for ephrin-B reverse signaling in the tangential migration of interneurons into the neocortex using ephrin-B (EfnB1/B2/B3) conditional triple mutant (TM(lz)) mice and a forebrain inhibitory neuron specific Cre driver.
Affiliation: Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Kent Waldrep Center for Basic Research on Nerve Growth and Regeneration, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Medical Gene Technology Division, Institute of Experimental Medicine, 1083 Budapest, Hungary. Department of Morphological Neural Science, Kumamoto University, Kumamoto 860-8556, Japan. Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Kent Waldrep Center for Basic Research on Nerve Growth and Regeneration, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: mark.henkemeyer@utsouthwestern.edu. .
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4: Title: A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts.
Authors: Skare, Øivind, et.al. .
Journal: PloS one, Vol. 12 (9): e0183772, 2017 .
Snippet: RESULTS: There was a larger number of associations in the Asian versus the European sample, and similar to previous reports that have analyzed the same GWAS dataset using different methods, we identified associations with EFNB1/PJA1 and DMD.
Affiliation: Department of Occupational Medicine and Epidemiology, National Institute of Occupational Health, Oslo, Norway. Centre for Fertility and Health (CeFH), Norwegian Institute of Public Health, Oslo, Norway. Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway. Department of Genetic Research and Bioinformatics, Norwegian Institute of Public Health, Oslo, Norway. Centre for Burden of Disease, Norwegian Institute of Public Health, Oslo, Norway. Computational Biology Unit, University of Bergen, Bergen, Norway. Department of Health Registries, Norwegian Institute of Public Health, Oslo, Norway. .
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5: Title: RNA-Sequencing Analyses Demonstrate the Involvement of Canonical Transient Receptor Potential Channels in Rat Tooth Germ Development.
Authors: Yang, Jun, et.al. .
Journal: Frontiers in physiology (Front Physiol), Vol. 8, 2017 .
Snippet: We found that GNAO1, ENO1, EFNB1, CALM1, SIAH2, ATP6V0A1, KDELR2, GTPBP1, POLR2C, SORT1, and members of the canonical transient receptor potential (TRPC) channel family are involved in tooth germ development.
Affiliation: Department of Stomatology, Huashan Hospital, Fudan UniversityShanghai, China. .
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6: Title: Proteomic analysis of mesenchymal to Schwann cell transdifferentiation.
Authors: Sharma, Anup D, et.al. .
Journal: Journal of proteomics (J Proteomics), Vol. 165, 2017 .
Snippet: MSC proteins significantly regulated during Schwann cell transdifferentiation included, but were not limited to, GNAI2, MYL9, ACTN4, ACTN1, ACTB, CAV-1, HSPB1, PHB2, TBB4B, CTGF, TGFI1, ARF6, EZR, GELS, VIM, WNT5A, RTN4, EFNB1.
Affiliation: Department of Chemical and Biological Engineering, Iowa State University, Ames, IA 50011-2230, USA; Neuroscience Program, Iowa State University, Ames, IA 50011, USA. Department of Pharmacology and Experimental Neuroscience, University of Nebraska Medical Center, Omaha, NE 68198-5880, USA. Department of Chemical and Biological Engineering, Iowa State University, Ames, IA 50011-2230, USA. Department of Genetics, Development and Cell Biology, Iowa State University, Ames, IA 50011-1031, USA; Neuroscience Program, Iowa State University, Ames, IA 50011, USA. Electronic address: dssakagu@iastate.edu. .
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7: Title: Value of Osteoblast-Derived Exosomes in Bone Diseases.
Authors: Ge, Min, et.al. .
Journal: The Journal of craniofacial surgery (J Craniofac Surg), Vol. 28 (4): 866-870, 2017 .
Snippet: EFNB1 and transforming growth factor beta receptor 3 in the network, LRP6, bone morphogenetic protein receptor type-1, and SMURF1 in the pathway seemed to be valuable in the exosome research of related bone disease.
Affiliation: Department of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai, China. .
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8: Title: Ephrin B1-mediated repulsion and signaling control germinal center T cell territoriality and function.
Authors: Lu, Peiwen, et.al. .
Journal: Science (New York, N.Y.) (Science), Vol. 356 (6339), 2017 .
Snippet: Here we found that GC-expressed ephrin B1 (EFNB1) repulsively inhibited T cell to B cell adhesion and GC TFH retention by signaling through TFH-expressed EPHB6 receptor.
Affiliation: Tsinghua-Peking Center for Life Sciences, Tsinghua University, Beijing 100084, China. Laboratory of Dynamic Immunobiology, Institute for Immunology, Tsinghua University, Beijing 100084, China. Department of Basic Medical Sciences, School of Medicine, Tsinghua University, Beijing 100084, China. Tsinghua-Peking Center for Life Sciences, Tsinghua University, Beijing 100084, China. qihai@tsinghua.edu.cn. School of Life Sciences, Tsinghua University, Beijing 100084, China. .
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9: Title: EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells.
Authors: Niethamer, Terren K, et.al. .
Journal: Stem cell reports, Vol. 8 (3): 529-537, 2017 .
Snippet: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by mutations in EFNB1 and characterized by craniofacial, skeletal, and neurological anomalies.
Affiliation: Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA. Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94143, USA. Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA. Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, USA. Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Orofacial Sciences, University of California, San Francisco, San Francisco, CA 94143, USA. Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Orofacial Sciences, University of California, San Francisco, San Francisco, CA 94143, USA; Division of Plastic and Reconstructive Surgery, Department of Surgery, University of California, San Francisco, San Francisco, CA 94143, USA. Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Cell and Tissue Biology, University of California, San Francisco, San Francisco, CA 94143, USA; Biomedical Sciences Graduate Program, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: jeffrey.bush@ucsf.edu. .
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10: Title: A Family With Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome With Bilateral Cleft Lip and Palate.
Authors: Inoue, Yoshikazu, et.al. .
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (Cleft Palate Craniofac J), 2017 .
Snippet: Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS.
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11: Title: Molecular Analysis of Ephrin A4 and Ephrin B1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.
Authors: Taylor, Gwen M, et.al. .
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (Cleft Palate Craniofac J), 2017 .
Snippet: Mutations in the ephrin A4 (EFNA4) and ephrin B1 (EFNB1) ligands have been linked to nonsyndromic CS and craniofrontonasal syndrome, respectively, in patient samples.
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12: Title: High-throughput analysis reveals novel maternal germline RNAs crucial for primordial germ cell preservation and proper migration.
Authors: Owens, Dawn A, et.al. .
Journal: Development (Cambridge, England) (Development), Vol. 144 (2): 292-304, 2017 .
Snippet: Initial functional studies of maternal vegetally localized mRNAs show that sox7 plays a novel and important role in primordial germ cell (PGC) development and that ephrinB1 (efnb1) is required for proper PGC migration.
Affiliation: Department of Cell Biology, University of Miami Miller School of Medicine, 1011 NW 15th St, Miami, FL 33136, USA. The Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1011 NW 15th St, Miami, FL 33136, USA. Department of Cell Biology, University of Miami Miller School of Medicine, 1011 NW 15th St, Miami, FL 33136, USA mking@med.miami.edu. .
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13: Title: EphB3 Stimulates Cell Migration and Metastasis in a Kinase-dependent Manner through Vav2-Rho GTPase Axis in Papillary Thyroid Cancer.
Authors: Li, Jing-Jing, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 292 (3): 1112-1121, 2017 .
Snippet: Either overexpression of EphB3 or activation of EphB3 by EfnB1-Fc/EfnB2-Fc stimulated in vitro migration of PTC cells.
Affiliation: From the Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China and. the Department of General Surgery, Fengxian Hospital Affiliated to Southern Medical University, 6600 Nanfeng Road, Shanghai 201499, China. the Department of General Surgery, Fengxian Hospital Affiliated to Southern Medical University, 6600 Nanfeng Road, Shanghai 201499, China lejing1996@aliyun.com. From the Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China and dxie@sibs.ac.cn. .
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14: Title: Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Authors: Miller, Kerry A, et.al. .
Journal: Journal of medical genetics (J Med Genet), Vol. 54 (4): 260-268, 2017 .
Snippet: We classified the other positive diagnoses as follows: commonly mutated craniosynostosis genes with atypical presentation (EFNB1, TWIST1); other core craniosynostosis genes (CDC45, MSX2, ZIC1); genes for which mutations are only rarely associated with craniosynostosis (FBN1, HUWE1, KRAS, STAT3); and known disease genes for which a causal relationship with craniosynostosis is currently unknown (AHDC1, NTRK2).
Affiliation: Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK. Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK. Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. Department of Craniofacial Surgery, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK. North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. Oxford Biomedical Research Centre, National Institute for Health Research, Oxford, UK. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands. Department of Bioinformatics, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands. Department of Paediatric Endocrinology, The Royal Belfast Hospital for Sick Children, Belfast, UK. Clinical Genetics Unit, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK. Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK. .
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15: Title: Loss of ephrinB1 in osteogenic progenitor cells impedes endochondral ossification and compromises bone strength integrity during skeletal development.
Authors: Nguyen, Thao M, et.al. .
Journal: Bone, Vol. 93, 2016 .
Snippet: The aberrant bone formation correlated with increased numbers of tartrate resistant acid phosphatase positive osteoclasts and decreased numbers of bone lining osteoblasts in 4week old Osx:EfnB1(-/-) mice, compared to Osx:Cre control mice.
Affiliation: Mesenchymal Stem Cell Laboratory, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia. Mesenchymal Stem Cell Laboratory, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia; Division of Haematology, SA Pathology, Adelaide, SA, Australia. Mesenchymal Stem Cell Laboratory, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia; Myeloma Research Laboratory, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia. Mesenchymal Stem Cell Laboratory, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia. School of Mechanical Engineering, University of Adelaide, Adelaide, Australia. St Vincent's Institute of Medical Research and Department of Medicine, St Vincent's Hospital, University of Melbourne, Fitzroy, Vic, Australia. South Australian Health and Medical Research Institute, Adelaide, SA, Australia; Myeloma Research Laboratory, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia. Mesenchymal Stem Cell Laboratory, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia. Electronic address: stan.gronthos@adelaide.edu.au. .
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16: Title: First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.
Authors: Yoo, Hani, et.al. .
Journal: Annals of clinical and laboratory science (Ann Clin Lab Sci), Vol. 46 (5): 544-8, 2016 .
Snippet: A Sanger sequencing analysis of these patients revealed one novel (IVS2+3G>T) and one previously reported mutation (p.Gly151Ser) in EFNB1 Both patients were de novo cases without a family history of CFNS.
Affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea jmko@snu.ac.kr. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea. .
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17: Title: Genetic Syndromes Associated with Craniosynostosis.
Journal: Journal of Korean Neurosurgical Society (J Korean Neurosurg Soc), Vol. 59 (3): 187-91, 2016 .
Snippet: FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis.
Affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. .
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18: Title: A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype.
Authors: Toral-López, Jaime, et.al. .
Journal: Molecular syndromology (Mol Syndromol), Vol. 7 (1): 32-6, 2016 .
Snippet: DNA sequencing analysis of the EFNB1 gene of the affected members showed the heterozygous missense mutation c.451G>A in the EFNB1 gene (GRcH38, chrX: 68,839,708; GERP score in hg38 of 9.961).
Affiliation: Departamento de Genética Médica, Centro Médico Ecatepec, ISSEMYM, Ecatepec, and Departamentos de, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico. Genética Médica, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico. Oftalmología, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico. .
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19: Title: CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
Authors: von Lowtzow, Catharina, et.al. .
Journal: BMC medical genetics (Bmc Med Genet), Vol. 17 (1): 35, 2016 .
Snippet: Interestingly, one female with classic bladder extrophy carried a 1.18 Mb duplication of 22q11.1, a chromosomal region that is associated with cat eye syndrome.
Affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany. Department of Genomics, Life & Brain Center, Bonn, Germany. Department of Urology and Pediatric Urology, Ulm, Germany. Department of Pediatric Urology, St. Hedwig Hospital Barmherzige Brüder, Regensburg, Germany. Department of Pediatric and Adolescent Urology, University of Mannheim, Mannheim, Germany. Department of Pediatric Surgery and Pediatric Urology, Children's Hospital of Cologne, Cologne, Germany. Department of Urology, Division of Pediatric Urology, University of Erlangen-Nürnberg, Erlangen, Germany. Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands. Pediatric Urology Center, Department of Urology, Radboud University Medical Centre, Nijmegen, The Netherlands. Department of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy. Institute for Maternal and Child Health, IRCCS Burlo Garofalo, Trieste, Italy. Institute of Medical Informatics, Biometry, and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Essen, Germany. Department of Neonatology and Pediatric Intensive Care, University of Bonn, Bonn, Germany. Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Sigmund-Freud-Str. 25, Bonn, D-53127, Germany. mludwig@uni-bonn.de. .
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20: Title: Non-negligible Occurrence of Errors in Gender Description in Public Data Sets.
Authors: Kim, Jong Hwan, et.al. .
Journal: Genomics & informatics (Genomics Inform), Vol. 14 (1): 34-40, 2016 .
Snippet: When we analyzed the gender description and the methylation patterns of gender-specific probes (glucose-6-phosphate dehydrogenase [G6PD], ephrin-B1 [EFNB1], and testis specific protein, Y-linked 2 [TSPY2]) in 5,611 samples produced using Infinium 450K HumanMethylation arrays, we found that 19 samples from 7 datasets were erroneously described.
Affiliation: Genome Structure Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.; Department of Functional Genomics, University of Science and Technology (UST), Daejeon 34113, Korea. Epigenome Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea. .
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