نتائج البحث

1

Integrative analysis of TP73 profile prognostic significance in WHO grade II/III glioma

المؤلفون: Jun Dong, Ye Wang, Zhongyong Wang, Tan Zhang, Yanming Chen, Qing Lan, Qiheng He, Wen Wang, Jizong Zhao

المصدر: Cancer Medicine
Cancer Medicine, Vol 10, Iss 13, Pp 4644-4657 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, Gene Expression, 0302 clinical medicine, Molecular classification, Risk Factors, Promoter Regions, Genetic, RC254-282, Original Research, Brain Neoplasms, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Glioma, Methylation, Middle Aged, Cell cycle, Prognosis, Progression-Free Survival, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Biomarker (medicine), Female, Genetic Markers, medicine.medical_specialty, Bioinformatics, World Health Organization, survival, 03 medical and health sciences, Internal medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, RNA, Messenger, Gene, Aged, Proportional Hazards Models, business.industry, Proportional hazards model, biomarkers, Tumor Protein p73, DNA Methylation, Who grade, medicine.disease, 030104 developmental biology, Mutation, methylation, Neoplasm Grading, business, cancers risk factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad52f1b446070c9f2cddf53bc1af7b6Test
https://doi.org/10.1002/cam4.4016Test

2

Recurrent co‐alteration of HDGF and SETDB1 on chromosome 1q drives cutaneous melanoma progression and poor prognosis

المؤلفون: Jeffrey K. Mito, Rodsy Modhurima, Leonard I. Zon, Song Yang, Erika Weiskopf, Ellen van Rooijen, Maurizio Fazio

المصدر: Pigment Cell Melanoma Res

مصطلحات موضوعية: Proto-Oncogene Proteins B-raf, 0301 basic medicine, Skin Neoplasms, Dermatology, Article, General Biochemistry, Genetics and Molecular Biology, Green fluorescent protein, 03 medical and health sciences, 0302 clinical medicine, In vivo, Biomarkers, Tumor, medicine, Animals, Humans, Copy-number variation, Melanoma, Zebrafish, Gene, biology, Chromosome, Histone-Lysine N-Methyltransferase, Prognosis, biology.organism_classification, medicine.disease, Gene Expression Regulation, Neoplastic, Survival Rate, 030104 developmental biology, Oncology, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Mutation, Cutaneous melanoma, Cancer research, Intercellular Signaling Peptides and Proteins, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030f2f4f8f02ccb8a98c29ca702c0f62Test
https://doi.org/10.1111/pcmr.12937Test

3

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

المؤلفون: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler

المساهمون: Clinical Genetics, Developmental Biology, Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P., Boycott, K. M., Barakat, T. S., Graham, J. M., Faivre, L., Banka, S., Wang, T., Eichler, E. E., Priolo, M., Dallapiccola, B., Vissers, L. E. L. M., Sadikovic, B., Scott, D. A., Holder, J. L., Tartaglia, M., MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output

المصدر: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516

مصطلحات موضوعية: 0301 basic medicine, SHARP, Male, obesity, genotype-phenotype correlations, Autism Spectrum Disorder, PROTEIN, Chromosome Disorders, Haploinsufficiency, RNA-Binding Protein, PHENOTYPE CORRELATIONS, 1p36, distal 1p36 deletion syndrome, DNA methylome analysis, episignature, neurodevelopmental disorder, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, X, DNA Methylation, DNA-Binding Proteins, Epigenesis, Genetic, Female, Humans, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, RNA-Binding Proteins, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Neurodevelopmental Disorder, Intellectual disability, MOLECULAR CHARACTERIZATION, Genetics (clinical), Genetics, DNA methylome analysi, SPLIT-ENDS, Hypotonia, Autism spectrum disorder, MONOSOMY 1P36, Pair 1, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, DNA-Binding Protein, Biology, genotype-phenotype correlation, Chromosomes, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Report, REVEALS, medicine, Epigenetics, Preschool, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 1p36 deletion syndrome, IDENTIFICATION, MUTATIONS, medicine.disease, GENE, 030104 developmental biology, Chromosome Disorder, 030217 neurology & neurosurgery, Epigenesis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7Test
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184Test

4

Detecting fitness epistasis in recently admixed populations with genome-wide data

المؤلفون: Xiaofeng Zhu, Craig L. Hanis, Hua Tang, Mengshi Zhou, Karen Y. He, Sharon L.R. Kardia, Heming Wang, Uli Broeckel, Richard S. Cooper, Xumin Ni, Susan Redline

المصدر: BMC Genomics, Vol 21, Iss 1, Pp 1-13 (2020)
BMC Genomics

مصطلحات موضوعية: Linkage disequilibrium, lcsh:QH426-470, lcsh:Biotechnology, ved/biology.organism_classification_rank.species, Population, Genome-wide association study, Biology, Genome, Polymorphism, Single Nucleotide, Fitness epistasis, Linkage Disequilibrium, Receptors, G-Protein-Coupled, 03 medical and health sciences, 0302 clinical medicine, lcsh:TP248.13-248.65, Genetics, Humans, Computer Simulation, Model organism, education, Gene, 030304 developmental biology, 0303 health sciences, education.field_of_study, Admixed population, ved/biology, Chromosomes, Human, Pair 10, Chromosome, Epistasis, Genetic, Diseases/traits, Black or African American, Co-evolution, lcsh:Genetics, Admixture linkage disequilibrium, Evolutionary biology, Chromosomes, Human, Pair 1, Epistasis, Genetic Fitness, 030217 neurology & neurosurgery, Biotechnology, Research Article, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28c8daf6dc8937676a8c5369f27b1baaTest
http://link.springer.com/article/10.1186/s12864-020-06874-7Test

5

Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure

المؤلفون: Diptavo Dutta, Adam Auton, Yanxiao Zhang, Nilanjan Chatterjee, Stephanie Glavaris, Alexis Battle, Bing Ren, Wei Wang, Neil C. Chi, Ali R. Keramati, Emmanouil Tampakakis, Marios Arvanitis, Wendy S. Post

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Science, Human Embryonic Stem Cells, Quantitative Trait Loci, General Physics and Astronomy, Locus (genetics), Genome-wide association study, Computational biology, 030204 cardiovascular system & hematology, Biology, Genome-wide association studies, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, ABO Blood-Group System, 03 medical and health sciences, 0302 clinical medicine, Atrial Fibrillation, medicine, Humans, Myocyte, Actinin, Genetic Predisposition to Disease, Myocytes, Cardiac, Clinical genetics, Musculoskeletal Diseases, Enhancer, lcsh:Science, Gene, Heart Failure, Regulation of gene expression, Multidisciplinary, Cardiac muscle, Functional genomics, General Chemistry, medicine.disease, 3. Good health, Enhancer Elements, Genetic, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Chromosomes, Human, Pair 1, Heart failure, lcsh:Q, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71ffef375c4e2bdbdc007ead62dfbeccTest
http://link.springer.com/article/10.1038/s41467-020-14843-7Test

6

Whole-genome optical mapping of bone-marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities

المؤلفون: Eva Kriegova, Jakub Savara, Jirina Manakova, Anna Petrackova, Tomas Pika, Regina Fillerova, Michal Vašinek, Martin Dihel, Jiri Minarik, Petr Gajdoš, Marek Behalek, Petra Krhovska, Tomas Papajik, Jana Balcarkova

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Molecular biology, Science, Chromosomal translocation, Bone Marrow Cells, Pilot Projects, Biology, Genome, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Bone Marrow, medicine, Humans, Gene, Multiple myeloma, Aged, Czech Republic, Aged, 80 and over, Chromosome Aberrations, Haematological cancer, Multidisciplinary, Cytogenetics, Chromosome, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Chromosomes, Human, Pair 1, 030220 oncology & carcinogenesis, Cytogenetic Analysis, Medicine, Female, Bone marrow, Multiple Myeloma, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a88899195ce7900a8800decec513ce59Test
http://europepmc.org/articles/PMC8289962Test

7

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

المؤلفون: Shelagh Joss, Farah Kanani, Charlotte Brasch-Andersen, Line Aagaard Nolting, Michael J. Parker, Maria Lisa Dentici, Joan P. Jørgensen, Helen Cox, Sara Loddo, Christina Fagerberg, Antonio Novelli, Andrew E. Fry

المصدر: Aagaard Nolting, L, Brasch-Andersen, C, Cox, H, Kanani, F, Parker, M, Fry, A E, Loddo, S, Novelli, A, Dentici, M L, Joss, S, Jørgensen, J P & Fagerberg, C R 2020, ' A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis ', Clinical Genetics, vol. 97, no. 6, pp. 927-932 . https://doi.org/10.1111/cge.13739Test

مصطلحات موضوعية: 0301 basic medicine, Male, chromosomes, Candidate gene, Developmental Disabilities, Ubiquitin-Protein Ligases, Chromosome Disorders, pair 1, 030105 genetics & heredity, 03 medical and health sciences, Ptosis, Intellectual Disability, Intellectual disability, ptosis, Genetics, medicine, Blepharoptosis, Humans, human, Gene, Genetics (clinical), Genetic Association Studies, CapZ Actin Capping Protein, learning disability, 1p36 deletion syndrome, business.industry, Learning Disabilities, chromosome deletion, Microdeletion syndrome, medicine.disease, 030104 developmental biology, Phenotype, Chromosomes, Human, Pair 1, Learning disability, Speech delay, Calmodulin-Binding Proteins, Female, medicine.symptom, Chromosome Deletion, business, behavioral abnormality

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b805b01b23cb078bdee4f636a50552d8Test
https://pubmed.ncbi.nlm.nih.gov/32170730Test

8

Genome-scale analysis identifies paralog lethality as a vulnerability of chromosome 1p loss in cancer

المساهمون: Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science, Koch Institute for Integrative Cancer Research at MIT

المصدر: Nature genetics
Nature genetics, vol 50, iss 7
PMC

مصطلحات موضوعية: 0301 basic medicine, Nude, Medical and Health Sciences, Small hairpin RNA, Mice, RNA interference, Neoplasms, 2.1 Biological and endogenous factors, CRISPR, Aetiology, RNA, Small Interfering, Lung, Cancer, Genetics, Tumor, Lung Cancer, Nuclear Proteins, Exons, Biological Sciences, Chromosomes, Human, Pair 1, Pair 1, Female, Biotechnology, Human, Pediatric Research Initiative, RNA Splicing, Mice, Nude, Context (language use), Biology, Karyopherins, Small Interfering, Chromosomes, Article, Cell Line, 03 medical and health sciences, Cell Line, Tumor, Animals, Humans, Gene, Cell Nucleus, Human Genome, Alternative splicing, RNA, 030104 developmental biology, HEK293 Cells, Exon junction complex, Gene Deletion, Developmental Biology