Suchergebnisse - "Pair 1/genetics"

Africa-specific human genetic variation near CHD1L associates with HIV-1 load

Autoren: McLaren, Paul J Porreca, Immacolata Iaconis, Gennaro et al.

Weitere Verfasser: McLaren, Paul J Porreca, Immacolata Iaconis, Gennaro et al.

Quelle: Nature
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Nature, vol. 620, no. 7976, pp. 1025-1030
McLaren, P J, Porreca, I, Iaconis, G, Mok, H P, Mukhopadhyay, S, Karakoc, E, Cristinelli, S, Pomilla, C, Bartha, I, Thorball, C W, Tough, R H, Angelino, P, Kiar, C S, Carstensen, T, Fatumo, S, Porter, T, Jarvis, I, Skarnes, W C, Bassett, A, DeGorter, M K, Sathya Moorthy, M P, Tuff, J F, Kim, E Y, Walter, M, Simons, L M, Bashirova, A, Buchbinder, S, Carrington, M, Cossarizza, A, De Luca, A, Goedert, J J, Goldstein, D B, Haas, D W, Herbeck, J T, Johnson, E O, Kaleebu, P, Kilembe, W, Kirk, G D, Kootstra, N A, Kral, A H, Lambotte, O, Luo, M, Mallal, S, Martinez-Picado, J, Meyer, L, Miro, J M, Moodley, P, Motala, A A, Mullins, J I, Nam, K, Obel, N, Pirie, F, Plummer, F A, Poli, G, Price, M A, Rauch, A, Theodorou, I, Trkola, A, Walker, B D, Winkler, C A, Zagury, J F, Montgomery, S B, Ciuffi, A, Hultquist, J F, Wolinsky, S M, Dougan, G, Lever, A M L, Gurdasani, D, Groom, H, Sandhu, M S & Fellay, J 2023, ' Africa-specific human genetic variation near CHD1L associates with HIV-1 load ', Nature, vol. 620, no. 7976, pp. 1025-1030 . https://doi.org/10.1038/s41586-023-06370-4

Schlagwörter: HIV, genetics, CHD1L, viremia, HIV Infections/genetics, [SDV]Life Sciences [q-bio], HIV Infections, Virus Replication, Chromosomes, Cell Line, Long Noncoding/genetics, Pair 1/genetics, Humans, HIV-1/growth & development, DNA Helicases/genetics, DNA Helicases/metabolism, DNA-Binding Proteins/genetics, DNA-Binding Proteins/metabolism, Genetic Variation, HIV-1/physiology, Viral Load/genetics, Africa, Chromosomes, Human, Pair 1/genetics, Alleles, RNA, Long Noncoding/genetics, JGM, DNA Helicases, Viral Load, 3. Good health, [SDV] Life Sciences [q-bio], DNA-Binding Proteins, Chromosomes, Human, Pair 1, Pair 1, HIV-1, RNA, Long Noncoding, HIV, Genetics, CHD1L, RNA, Long Noncoding, Human

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37532928
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11943
https://hdl.handle.net/20.500.11768/181307
https://www.nature.com/articles/s41586-023-06370-4
https://doi.org/10.1038/s41586-023-06370-4
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B1BEC83916D31
https://serval.unil.ch/resource/serval:BIB_B1BEC83916D3.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_B1BEC83916D3
https://curis.ku.dk/ws/files/410169719/nihms_1959892.pdf

Loss over 5% of chromosome 1p is a clinically relevant and applicable cut-off for increased risk of recurrence in meningioma

Autoren: Maas, Sybren L N Hielscher, Thomas Sievers, Philipp et al.

Weitere Verfasser: Maas, Sybren L N Hielscher, Thomas Sievers, Philipp et al.

Quelle: Acta Neuropathol

Schlagwörter: Male, Adult, 2804 Cellular and Molecular Neuroscience, 610 Medicine & health, Middle Aged, 10040 Clinic for Neurology, 2734 Pathology and Forensic Medicine, 2728 Neurology (clinical), Chromosomes, Human, Pair 1, Correspondence, Meningeal Neoplasms, Humans, Meningeal Neoplasms/pathology [MeSH], Female [MeSH], Aged [MeSH], Adult [MeSH], Humans [MeSH], Meningioma/genetics [MeSH], Middle Aged [MeSH], Neoplasm Recurrence, Local/pathology [MeSH], Male [MeSH], Meningeal Neoplasms/genetics [MeSH], Meningioma/pathology [MeSH], Neoplasm Recurrence, Local/genetics [MeSH], Chromosome Deletion [MeSH], Chromosomes, Human, Pair 1/genetics [MeSH], Female, Neoplasm Recurrence, Local, Chromosome Deletion, Meningioma, Aged

Dateibeschreibung: s00401_024_02777_z.pdf - application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39115604
https://repository.publisso.de/resource/frl:6507974
https://www.zora.uzh.ch/id/eprint/266794/
https://doi.org/10.5167/uzh-266794

Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1

Autoren: Martin Hasselblatt Till Acker Christian Hartmann et al.

Weitere Verfasser: Martin Hasselblatt Till Acker Christian Hartmann et al.

Quelle: Acta Neuropathol
Acta Neuropathologica
Suwala, A K, Stichel, D, Schrimpf, D, Maas, S L N, Sill, M, Dohmen, H, Banan, R, Reinhardt, A, Sievers, P, Hinz, F, Blattner-Johnson, M, Hartmann, C, Schweizer, L, Boldt, H B, Kristensen, B W, Schittenhelm, J, Wood, M D, Chotard, G, Bjergvig, R, Das, A, Tabori, U, Hasselblatt, M, Korshunov, A, Abdullaev, Z, Quezado, M, Aldape, K, Harter, P N, Snuderl, M, Hench, J R, Frank, S, Acker, T, Brandner, S, Winkler, F, Wesseling, P, Pfister, S M, Reuss, D E, Wick, W, von Deimling, A, Jones, D T W & Sahm, F 2021, 'Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1', Acta Neuropathologica, vol. 142, no. 1, pp. 179-189. https://doi.org/10.1007/s00401-021-02302-6
Suwala, A K, Stichel, D, Schrimpf, D, Maas, S L N, Sill, M, Dohmen, H, Banan, R, Reinhardt, A, Sievers, P, Hinz, F, Blattner-johnson, M, Hartmann, C, Schweizer, L, Boldt, H B, Kristensen, B W, Schittenhelm, J, Wood, M D, Chotard, G, Bjergvig, R, Das, A, Tabori, U, Hasselblatt, M, Korshunov, A, Abdullaev, Z, Quezado, M, Aldape, K, Harter, P N, Snuderl, M, Hench, J, Frank, S, Acker, T, Brandner, S, Winkler, F, Wesseling, P, Pfister, S M, Reuss, D E, Wick, W, Von Deimling, A, Jones, D T W & Sahm, F 2021, ' Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1 ', Acta Neuropathologica, vol. 142, pp. 179–189 . https://doi.org/10.1007/s00401-021-02302-6
Suwala, A K, Stichel, D, Schrimpf, D, Maas, S L N, Sill, M, Dohmen, H, Banan, R, Reinhardt, A, Sievers, P, Hinz, F, Blattner-Johnson, M, Hartmann, C, Schweizer, L, Boldt, H B, Kristensen, B W, Schittenhelm, J, Wood, M D, Chotard, G, Bjergvig, R, Das, A, Tabori, U, Hasselblatt, M, Korshunov, A, Abdullaev, Z, Quezado, M, Aldape, K, Harter, P N, Snuderl, M, Hench, J, Frank, S, Acker, T, Brandner, S, Winkler, F, Wesseling, P, Pfister, S M, Reuss, D E, Wick, W, von Deimling, A, Jones, D T W & Sahm, F 2021, ' Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1 ', Acta Neuropathologica, vol. 142, no. 1, pp. 179-189 . https://doi.org/10.1007/s00401-021-02302-6
Acta Neuropathologica, vol 142, iss 1

Schlagwörter: Male, 0301 basic medicine, PNET, Neuroectodermal Tumors, Cohort Studies, Primitive, 2.1 Biological and endogenous factors, Neuroectodermal Tumors, Primitive, Aetiology, 10. No inequality, Cancer, 2. Zero hunger, 0303 health sciences, DNA methylation, Brain Neoplasms, Research Support, Non-U.S. Gov't, Ubiquitin-Protein Ligases/genetics [MeSH], Glial Fibrillary Acidic Protein/biosynthesis [MeSH], Glioblastoma/pathology [MeSH], Cohort Studies [MeSH], Neuroectodermal Tumors, Primitive/genetics [MeSH], Male [MeSH], Retinoblastoma Binding Proteins/genetics [MeSH], Glioblastoma/genetics [MeSH], Gene Deletion [MeSH], Female [MeSH], Neuroectodermal Tumors, Primitive/pathology [MeSH], Phenotype, Brain Neoplasms/genetics [MeSH], GBM, Classification, Humans [MeSH], PTEN Phosphohydrolase/genetics [MeSH], Chromosomes, Human, Pair 7/genetics [MeSH], Middle Aged [MeSH], Glial Fibrillary Acidic Protein/genetics [MeSH], Tumor Suppressor Protein p53/genetics [MeSH], Cyclin-Dependent Kinase Inhibitor p16/genetics [MeSH], DNA Copy Number Variations [MeSH], DNA Methylation [MeSH], Plasticity, Original Paper, Chromosomes, Human, Pair 1/genetics [MeSH], Brain Neoplasms/pathology [MeSH], Middle Aged, Retinoblastoma Binding Proteins, Chromosomes, Human, Pair 1, Pair 1, Pair 7, Female, Chromosomes, Human, Pair 7, Human, DNA Copy Number Variations, Ubiquitin-Protein Ligases, Clinical Sciences, Oncology and Carcinogenesis, Clinical Neurology, Chromosomes, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, 03 medical and health sciences, Rare Diseases, Glial Fibrillary Acidic Protein, Genetics, Journal Article, Humans, Cyclin-Dependent Kinase Inhibitor p16, Neurology & Neurosurgery, Biomedical and Clinical Sciences, Human Genome, Neurosciences, PTEN Phosphohydrolase, DNA Methylation, Brain Disorders, Brain Cancer, Tumor Suppressor Protein p53, Glioblastoma, Gene Deletion

Dateibeschreibung: application/pdf

Zugangs-URL: https://link.springer.com/content/pdf/10.1007/s00401-021-02302-6.pdf
https://pubmed.ncbi.nlm.nih.gov/33876327
https://pubmed.ncbi.nlm.nih.gov/33876327/
http://europepmc.org/article/MED/33876327
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8217054
https://link.springer.com/content/pdf/10.1007/s00401-021-02302-6.pdf
https://portal.findresearcher.sdu.dk/en/publications/glioblastomas-with-primitive-neuronal-component-harbor-a-distinct
https://research.vumc.nl/en/publications/glioblastomas-with-primitive-neuronal-component-harbor-a-distinct
https://hdl.handle.net/11250/2838416
https://research.vumc.nl/en/publications/b19cce4f-5688-4146-bc50-f67a1dcb96da
https://dspace.library.uu.nl/handle/1874/443255
https://curis.ku.dk/ws/files/275993976/Suwala2021_Article_GlioblastomasWithPrimitiveNeur.pdf
https://portal.findresearcher.sdu.dk/da/publications/790ecb5e-6834-457e-ab0c-54e543e63689
https://doi.org/10.1007/s00401-021-02302-6
https://findresearcher.sdu.dk:8443/ws/files/184340978/Suwala2021_Article_GlioblastomasWithPrimitiveNeur.pdf
https://repository.publisso.de/resource/frl:6450722
https://discovery-pp.ucl.ac.uk/id/eprint/10130401/
https://escholarship.org/content/qt2kz927r8/qt2kz927r8.pdf
https://escholarship.org/uc/item/2kz927r8

Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes

Autoren: Richard, G. Lin, J. P. Smith, L. et al.

Schlagwörter: Chromosome Mapping Chromosomes, Human, Pair 1/genetics Connexins/genetics Erythema/*genetics Genes/genetics Genetic Heterogeneity Haplotypes Humans Hyperpigmentation/*genetics Keratosis/*genetics Linkage (Genetics) Pedigree Phenotype

Relation: Journal of Investigative Dermatology; https://iris.unil.ch/handle/iris/61507; serval:BIB_59AB6575BA0A; A1997YB20400011; 9347797

Verfügbarkeit: https://iris.unil.ch/handle/iris/61507
https://doi.org/10.1111/1523-1747.ep12337713

Evidence for a susceptibility gene for anorexia nervosa on chromosome 1.

Autoren: Grice, D.E. Halmi, K.A. Fichter, M.M. et al.

Schlagwörter: Adult, Anorexia Nervosa/genetics, Bulimia/genetics, Chromosome Mapping/methods, Chromosomes, Human, Pair 1/genetics, Pair 4/genetics, Female, Genes, Dominant, Recessive, Genetic Predisposition to Disease, Humans, Lod Score, Male, Models, Genetic, Phenotype, Statistics, Nonparametric

Relation: American Journal of Human Genetics; https://iris.unil.ch/handle/iris/46449; serval:BIB_22542; 000173880000023

Verfügbarkeit: https://iris.unil.ch/handle/iris/46449
https://doi.org/10.1086/339250

MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland

Autoren: Mataftsi, A. Achache, F. Heon, E. et al.

Schlagwörter: Adult Age of Onset Aged Aged, 80 and over Chromosomes, Human, Pair 1/genetics Cytoskeletal Proteins/genetics DNA Mutational Analysis DNA Primers/chemistry Eye Proteins/*genetics Female *Gene Frequency Genotype Glaucoma, Open-Angle/diagnosis/*genetics Glycoproteins/*genetics Humans Male Middle Aged Mutation/*genetics Pedigree Phenotype Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Switzerland Trabecular Meshwork

Relation: Ophthalmic Genetics; https://iris.unil.ch/handle/iris/227100; serval:BIB_A45FC41B05C6

Verfügbarkeit: https://iris.unil.ch/handle/iris/227100

Suggestive linkage to chromosome 1q for bone mineral apparent density in Brazilian sister adolescents.

Autoren: Fonseca, R.M. de França, N.M. Pereira, R.W.

Schlagwörter: Adolescent, Adult, Bone Density/genetics, Brazil/epidemiology, Child, Chromosomes, Human, Pair 1/genetics, Pair 11/genetics, Female, Genetic Linkage, Genetic Predisposition to Disease/ethnology, Genetic Predisposition to Disease/genetics, Genotype, Humans, Lod Score, Microsatellite Repeats/genetics, Middle Aged, Mothers/statistics & numerical data, Osteoporosis/ethnology, Osteoporosis/genetics, Young Adult

Relation: Joint bone spine; https://iris.unil.ch/handle/iris/210736; serval:BIB_B08E9D2F2068; 000303776700009

Verfügbarkeit: https://iris.unil.ch/handle/iris/210736
https://doi.org/10.1016/j.jbspin.2011.05.007

Quality assessment of genetic markers used for therapy stratification.

Autoren: Ambros, I.M. Benard, J. Boavida, M. et al.

Schlagwörter: Blotting, Southern, Chromosomes, Human, Pair 1/genetics, DNA, Neoplasm/analysis, Diagnostic Errors/prevention & control, Diagnostic Errors/statistics & numerical data, Europe, Genetic Techniques/standards, Humans, In Situ Hybridization, Fluorescence, Neuroblastoma/drug therapy, Neuroblastoma/genetics, Nuclear Proteins/genetics, Oncogene Proteins/genetics, Ploidies, Polymerase Chain Reaction, Quality Assurance, Health Care, Quality Control, Reference Standards, Terminology as Topic, Tumor Markers, Biological/analysis, Biological/genetics

Relation: Journal of Clinical Oncology; https://iris.unil.ch/handle/iris/168868; serval:BIB_7D2F6507C5D5; 000183211400006

Verfügbarkeit: https://iris.unil.ch/handle/iris/168868
https://doi.org/10.1200/JCO.2003.03.025

18 F-DOPA uptake does not correlate with IDH mutation status and 1p/19q co-deletion in glioma.

Autoren: Cicone, F. Carideo, L. Scaringi, C. et al.

Schlagwörter: Biological Transport, Brain Neoplasms/diagnostic imaging, Brain Neoplasms/genetics, Brain Neoplasms/metabolism, Chromosome Deletion, Chromosomes, Human, Pair 1/genetics, Pair 19/genetics, Dihydroxyphenylalanine/analogs & derivatives, Dihydroxyphenylalanine/metabolism, Female, Glioma/diagnostic imaging, Glioma/genetics, Glioma/metabolism, Humans, Isocitrate Dehydrogenase/genetics, Male, Middle Aged, Positron Emission Tomography Computed Tomography, Survival Analysis, 1p/19q co-deletion, Amino acid PET, DOPA, Glioma, IDH mutation, WHO 2016

Relation: Annals of Nuclear Medicine; https://iris.unil.ch/handle/iris/164552; serval:BIB_A62BB6744E8C; 000463726000009

Verfügbarkeit: https://iris.unil.ch/handle/iris/164552
https://doi.org/10.1007/s12149-018-01328-3

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

Autoren: Biswas, S. Munier, F. L. Yardley, J. et al.

Schlagwörter: Amino Acid Sequence Base Sequence Chromosome Mapping Chromosomes, Human, Pair 1/genetics Collagen Type VIII/*genetics Corneal Dystrophies, Hereditary/*genetics/pathology DNA/chemistry/genetics Endothelium, Corneal/*pathology/ultrastructure Family Health Female Fuchs' Endothelial Dystrophy/*genetics/pathology Genes/genetics Haplotypes Humans Male Microsatellite Repeats Microscopy, Electron Molecular Sequence Data Mutation, Missense Pedigree Sequence Analysis, DNA

Dateibeschreibung: application/pdf

Relation: Human Molecular Genetics; https://iris.unil.ch/handle/iris/126256; serval:BIB_1B7B96B25B4E; 000171946100009

Verfügbarkeit: https://iris.unil.ch/handle/iris/126256
https://doi.org/10.1093/hmg/10.21.2415

Identification of 9 novel transcripts and two RGSL genes within the hereditary prostate cancer region (HPC1) at 1q25.

Autoren: Silva, A.P. Salim, A.C. Bulgarelli, A. et al.

Schlagwörter: Chromosome Mapping, Chromosomes, Human, Pair 1/genetics, DNA, Complementary/chemistry, Complementary/genetics, Databases, Nucleic Acid, Expressed Sequence Tags, Humans, Male, Microsatellite Repeats, Molecular Sequence Data, Prostatic Neoplasms/genetics, Prostatic Neoplasms/pathology, Proteins/genetics, RGS Proteins/genetics, Sequence Analysis, Transcription, Genetic/genetics, Tumor Cells, Cultured

Relation: Gene; 0378-1119[print], 0378-1119[linking]; https://iris.unil.ch/handle/iris/166377; serval:BIB_B68F863EB09B; 000183677900005

Verfügbarkeit: https://iris.unil.ch/handle/iris/166377
https://doi.org/10.1016/S0378-1119(03)00501-8

Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31

Autoren: Aravinda Chakravarti Erin B. Ware Yingchang Lu et al.

Quelle: European Journal of Human Genetics, Vol. 27, No 2 (2019) pp. 269-277

Schlagwörter: 0301 basic medicine, African Americans/genetics, 0303 health sciences, Single Nucleotide, Polymorphism, Single Nucleotide, Chromosomes, Linkage Disequilibrium, 3. Good health, Black or African American, 03 medical and health sciences, Gene Frequency, Chromosomes, Human, Pair 1, Hypertension, Pair 1/genetics, Humans, Hypertension/ethnology/genetics, Polymorphism, Human, Genome-Wide Association Study

Dateibeschreibung: application/pdf

Zugangs-URL: https://www.nature.com/articles/s41431-018-0277-1.pdf
https://pubmed.ncbi.nlm.nih.gov/30262922
https://archive-ouverte.unige.ch/unige:135503
https://jhu.pure.elsevier.com/en/publications/combined-linkage-and-association-analysis-identifies-rare-and-low
https://pubmed.ncbi.nlm.nih.gov/30262922/
https://www.nature.com/articles/s41431-018-0277-1
https://archive-ouverte.unige.ch/unige:135503/ATTACHMENT01
https://www.ncbi.nlm.nih.gov/pubmed/30262922
https://archive-ouverte.unige.ch/unige:135503
https://doi.org/10.1038/s41431-018-0277-1
https://archive-ouverte.unige.ch/unige:135503

Characterization of longitudinal transformation of T2-hyperintensity in oligodendroglioma

Autoren: Heiland, Dieter H. Ohle, Robin Cipriani, Debora et al.

Quelle: BMC Cancer
BMC Cancer, Vol 20, Iss 1, Pp 1-9 (2020)
BMC cancer 20, 818 (2020). doi:10.1186/s12885-020-07290-6

Schlagwörter: Adult, Male, Oligodendroglioma, Astrocytoma, 03 medical and health sciences, Segmentation, 0302 clinical medicine, Humans, Longitudinal Studies, RC254-282, Aged, Neoplasm Staging, Aged, 80 and over, Brain Neoplasms, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Aged, 80 and over [MeSH], Aged [MeSH], MR-imaging, Surgical oncology, cancer imaging, and interventional therapeutics, Neoplasm Staging [MeSH], Astrocytoma/diagnostic imaging [MeSH], Male [MeSH], Neoplasm Recurrence, Local/diagnostic imaging [MeSH], Neoplasm Recurrence, Local/genetics [MeSH], Astrocytoma/genetics [MeSH], Chromosome Deletion [MeSH], Oligodendroglioma/diagnostic imaging [MeSH], Research Article, Female [MeSH], Follow-Up Studies [MeSH], Mutation [MeSH], Brain Neoplasms/genetics [MeSH], Adult [MeSH], Humans [MeSH], Longitudinal Studies [MeSH], Retrospective Studies [MeSH], Middle Aged [MeSH], Oligodendroglioma/genetics [MeSH], Magnetic Resonance Imaging/methods [MeSH], Chromosomes, Human, Pair 19/genetics [MeSH], Brain Neoplasms/diagnostic imaging [MeSH], Chromosomes, Human, Pair 1/genetics [MeSH], Isocitrate Dehydrogenase/genetics [MeSH], Middle Aged, Magnetic Resonance Imaging, Isocitrate Dehydrogenase, Chromosomes, Human, Pair 1, Mutation, Female, Chromosome Deletion, Neoplasm Recurrence, Local, Chromosomes, Human, Pair 19, Follow-Up Studies

Dateibeschreibung: pdf

Zugangs-URL: https://bmccancer.biomedcentral.com/track/pdf/10.1186/s12885-020-07290-6
https://pubmed.ncbi.nlm.nih.gov/32854646
https://doaj.org/article/8fd799d9bbda4b3a99dbe6f84861fdf8
https://pubmed.ncbi.nlm.nih.gov/32854646/
https://link.springer.com/content/pdf/10.1186/s12885-020-07290-6.pdf
https://bmccancer.biomedcentral.com/articles/10.1186/s12885-020-07290-6
https://www.ncbi.nlm.nih.gov/pubmed/32854646
https://link.springer.com/article/10.1186/s12885-020-07290-6
https://www.medrxiv.org/content/10.1101/2020.07.03.20145698v1
https://medrxiv.org/content/10.1101/2020.07.03.20145698v1.full.pdf
http://www.medrxiv.org/content/10.1101/2020.07.03.20145698v1
https://repository.publisso.de/resource/frl:6464601
https://publications.rwth-aachen.de/record/813118

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia

Autoren: Seixas, AI Loureiro, JR Costa, C et al.

Weitere Verfasser: Seixas, AI Loureiro, JR Costa, C et al.

Quelle: The American journal of human genetics 101(1), 87-103 (2017). doi:10.1016/j.ajhg.2017.06.007

Schlagwörter: Adaptor Proteins Signal Transducing/genetics, Male, 0301 basic medicine, genetics [DNA, Intergenic], DNA Mutational Analysis, Nerve Tissue Proteins/metabolism, genetics [Introns], Mutagenesis Insertional/genetics, genetics [Adaptor Proteins, Signal Transducing], Cerebellum, Chromosome Segregation, RNA Messenger/metabolism, Embryonic Development/genetics, Nerve Tissue Proteins/genetics, genetics [RNA], genetics [Spinocerebellar Ataxias], Age of Onset, genetics [Nerve Tissue Proteins], 0303 health sciences, 4. Education, Chromosomes Human Pair 1/genetics, metabolism [Cerebellum], Middle Aged, Physical Chromosome Mapping, Pedigree, genetics [Microsatellite Repeats], Chromosomes, Human, Pair 1, DNA Intergenic/genetics, DNA, Intergenic, Female, Adaptor Proteins Signal Transducing/metabolism, Adult, Adolescent, genetics [Chromosome Segregation], Haplotypes/genetics, genetics [Mutagenesis, Insertional], Microsatellite Repeats/genetics, Embryonic Development, Nerve Tissue Proteins, RNA/genetics, RNA Messenger/genetics, metabolism [RNA, Messenger], Introns/genetics, metabolism [Adaptor Proteins, Signal Transducing], genetics [RNA, Messenger], Young Adult, 03 medical and health sciences, ddc:570, genetics [Haplotypes], Chromosome Segregation/genetics, Humans, Genetic Predisposition to Disease, RNA, Messenger, Alleles, Cerebellum/metabolism, Adaptor Proteins, Signal Transducing, Spinocerebellar Ataxias/genetics, metabolism [Nerve Tissue Proteins], DAB1 protein, human, Base Sequence, genetics [Embryonic Development], Introns, Reelin Protein, HEK293 Cells, Haplotypes, genetics [Chromosomes, Human, Pair 1], RNA, Microsatellite Repeats

Dateibeschreibung: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

Zugangs-URL: http://www.cell.com/article/S0002929717302422/pdf
https://pubmed.ncbi.nlm.nih.gov/28686858
https://www.cell.com/ajhg/fulltext/S0002-9297(17)30242-2
https://www.sciencedirect.com/science/article/pii/S0002929717302422
https://europepmc.org/article/PMC/PMC5501871
https://repositorio-aberto.up.pt/handle/10216/110348
https://repositorio.hff.min-saude.pt/handle/10400.10/1987
https://repositorio.hff.min-saude.pt/bitstream/10400.10/1987/1/main.pdf
http://hdl.handle.net/10216/110348

The Association between Serum LDL Cholesterol and Genetic Variation in Chromosomal Locus 1p13.3 among Coronary Artery Disease Patients

Autoren: Nasser M. Rizk Ayman El-Menyar Huda Egue et al.

Quelle: Biomed Res Int

Schlagwörter: Adult, Male, Coronary Artery Disease, Chromosomes, Coronary Artery Disease/blood, 03 medical and health sciences, 0302 clinical medicine, Genetic, Pair 1/genetics, Humans, Polymorphism, Alleles, Aged, Polymorphism, Genetic, Cholesterol, LDL, Middle Aged, LDL/blood, 3. Good health, Cholesterol, Cholesterol, LDL/blood, Chromosomes, Human, Pair 1/genetics, Chromosomes, Human, Pair 1, Genetic Loci, 13. Climate action, Female, Human, Research Article

Dateibeschreibung: text/xhtml; application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/25969834
https://www.hindawi.com/journals/bmri/2015/678924/
https://pubmed.ncbi.nlm.nih.gov/25969834/
http://downloads.hindawi.com/journals/bmri/2015/678924.pdf
https://downloads.hindawi.com/journals/bmri/2015/678924.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370099/
https://core.ac.uk/display/76420525
https://hdl.handle.net/10576/4998

Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi

Autoren: Yang Li Marije Oosting Patrick Deelen et al.

Quelle: Nature Medicine, 22, 8, pp. 952-60
Nature Medicine

Schlagwörter: Male, Candida albicans/immunology, Individuality, Bacteroides fragilis, Candida albicans, Leukocytes, European Continental Ancestry Group/genetics, Immunogenetic Phenomena, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Single Nucleotide, Middle Aged, 3. Good health, Phenotype, Chromosomes, Human, Pair 1, Cytokines, Aspergillus fumigatus/immunology, Female, N-Terminal Acetyltransferase C/genetics, Staphylococcus aureus/immunology, Chromosomes, Human, Pair 7, Human, Adult, Genotype, Quantitative Trait Loci, Bacteria/immunology, Chromosomes, Innate/immunology, Young Adult, Cytokines/immunology, Pair 1/genetics, Escherichia coli, Humans, Candidemia/immunology, Membrane Proteins/genetics, Polymorphism, Aged, Mononuclear/immunology, Escherichia coli/immunology, Bacteria, Aspergillus fumigatus, Gene Expression Profiling, Fungi/immunology, Immunity, Fungi, Candidemia, Genetic Variation, Radboudumc 9: Rare cancers RIMLS: Radboud Institute for Molecular Life Sciences, Bacteroides fragilis/immunology, Immunity, Innate, Pair 7/genetics, 13. Climate action, Interleukin-6/immunology, Mycobacterium tuberculosis/immunology

Zugangs-URL: https://europepmc.org/articles/pmc5084084?pdf=render
https://pubmed.ncbi.nlm.nih.gov/27376574
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/165682
https://doi.org/10.1038/nm.4139
https://core.ac.uk/display/92558650
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5084084
https://www.nature.com/articles/nm.4139.pdf
https://www.narcis.nl/publication/RecordID/oai%3Arepository.ubn.ru.nl%3A2066%2F165682
https://research.rug.nl/en/publications/inter-individual-variability-and-genetic-influences-on-cytokine-r
https://www.nature.com/articles/nm.4139
https://hdl.handle.net/2066/165682
https://repository.ubn.ru.nl//bitstream/handle/2066/165682/165682.pdf

Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31

Autoren: Wang, Heming Nandakumar, Priyanka Tekola-Ayele, Fasil et al.

Quelle: ISSN: 1018-4813 ; European Journal of Human Genetics, vol. 27, no. 2 (2019) p. 269-277.

Schlagwörter: African Americans/genetics, Chromosomes, Human, Pair 1/genetics, Gene Frequency, Genome-Wide Association Study, Humans, Hypertension/ethnology/genetics, Linkage Disequilibrium, Polymorphism, Single Nucleotide

Relation: info:eu-repo/semantics/altIdentifier/pmid/30262922; unige:135503

Verfügbarkeit: https://archive-ouverte.unige.ch/unige:135503

Extranodal NK/T-cell lymphoma, nasal type (ENKL)

Autoren: Salcedo, Luis Miguel Juárez Conde Royo, Diego Dalia, Samir et al.

Weitere Verfasser: Salcedo, Luis Miguel Juárez Conde Royo, Diego Dalia, Samir et al.

Schlagwörter: Extranodal NK/T-cell lymphoma nasal type, Angiocentric T-cell lymphoma, Malignant reticulosis, Leukaemia Section, Adult, Aged, 80 and over, Chromosome Aberrations, Chromosomes, Human, Pair 1/genetics, Drug Resistance, Neoplasm/*genetics, Female, Hematologic Neoplasms/*genetics/pathology, Humans, Karyotyping, Leukemia, Myeloid, Acute/*genetics/pathology, Male, Middle Aged, Myelodysplastic Syndromes/*genetics/pathology, Myeloproliferative Disorders/*genetics/pathology, Prognosis, Translocation, Genetic/*genetics, Bone Marrow Cells/metabolism/pathology, Chromosome Deletion

Relation: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Anomalies/ExtranodalNKTLNHID1689.html; Luis Miguel Juárez, Salcedo; Diego, Conde Royo; Samir, Dalia. Extranodal NK/T-cell lymphoma, nasal type (ENKL). Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2019, 6, p. 146-148; http://hdl.handle.net/2042/70457; https://doi.org/10.4267/2042/70457

Verfügbarkeit: http://hdl.handle.net/2042/70457
https://doi.org/10.4267/2042/70457

The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol

Autoren: Samani, Nilesh J Braund, Peter S Erdmann, Jeanette et al.

Quelle: Samani, N J, Braund, P S, Erdmann, J, Götz, A, Tomaszewski, M, Linsel-Nitschke, P, Hajat, C, Mangino, M, Hengstenberg, C, Stark, K, Ziegler, A, Caulfield, M, Burton, P R, Schunkert, H & Tobin, M D 2008, 'The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol', Journal of Molecular Medicine, vol. 86, no. 11, pp. 1233-41. https://doi.org/10.1007/s00109-008-0387-2

Schlagwörter: Blood Glucose, Male, 0301 basic medicine, HDL, European Continental Ancestry Group, Quantitative Trait Loci, Coronary Artery Disease, Cholesterol/blood, Polymorphism, Single Nucleotide, Chromosomes, White People, LDL, Nuclear Family, 03 medical and health sciences, Phosphoproteins/genetics, Pair 1/genetics, Humans, Genetic Predisposition to Disease, Polymorphism, Cholesterol, HDL/blood, 0303 health sciences, Cadherins/genetics, Coronary Artery Disease/genetics, Cholesterol, HDL, Single Nucleotide, Cholesterol, LDL, Blood Glucose/analysis, Middle Aged, Cadherins, Phosphoproteins, LDL/blood, 3. Good health, Cholesterol, Cholesterol, LDL/blood, Chromosomes, Human, Pair 1/genetics, Chromosomes, Human, Pair 1, HDL/blood, Pair 1, Female, Human

Dateibeschreibung: Metadata; metadata

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/18649068
https://mediatum.ub.tum.de/693729
https://www.ncbi.nlm.nih.gov/pubmed/18649068
https://link.springer.com/article/10.1007/s00109-008-0387-2
https://europepmc.org/article/MED/18649068
https://research-information.bris.ac.uk/en/publications/the-novel-genetic-variant-predisposing-to-coronary-artery-disease

Gain of chromosome 1q21 is an independent adverse prognostic factor in light chain amyloidosis patients treated with melphalan/dexamethasone

Autoren: Bochtler, Tilmann Hegenbart, Ute Kunz, Christina et al.

Weitere Verfasser: Bochtler, Tilmann Hegenbart, Ute Kunz, Christina et al.

Quelle: Amyloid. 21:9-17

Schlagwörter: Adult, Male, Melphalan/therapeutic use, Kaplan-Meier Estimate, Dexamethasone, Disease-Free Survival, 03 medical and health sciences, 0302 clinical medicine, Immunoglobulin Light Chains/metabolism, Chromosome Duplication, Humans, Amyloidosis/drug therapy, Melphalan, Aged, Proportional Hazards Models, Amyloidosis, Middle Aged, Prognosis, Dexamethasone/therapeutic use, 3. Good health, multivariate analysis, Chromosomes, Human, Pair 1/genetics, Chromosomes, Human, Pair 1, Multivariate Analysis, Drug Therapy, Combination, Female, Immunoglobulin Light Chains

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/24455967
https://pubmed.ncbi.nlm.nih.gov/24455967/
https://www.ncbi.nlm.nih.gov/pubmed/24455967
https://www.tandfonline.com/doi/abs/10.3109/13506129.2013.854766
https://biblio.vub.ac.be/vubir/gain-of-chromosome-1q21-is-an-independent-adverse-prognostic-factor-in-light-chain-amyloidosis-patients-treated-with-melphalandexamethasone(0f326700-0130-48a6-96b4-b7504b6023d0).html