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المؤلفون: Kathleen A. Williamson, Joseph A. Marsh, Gabriele Gillessen-Kaesbach, Simon Bodek, H Nikki Hall, Shane McKee, Patrick Edery, Liusaidh J Owen, Dragana Josifova, Françoise Meire, Jane A. Hurst, Joke B. G. M. Verheij, G G W Adams, Richard Fisher, Veronica van Heyningen, Benjamin J Livesey, David R. FitzPatrick, Charlotte Reiff, Bruce Castle, Edward S. Tobias, Birgit Lorenz, Alexander T Deng, Isabel M. Hanson, Michael P. Clarke, Marjolaine Willems, Anthony T. Moore, Jay E. Self, Michael W. Parker, Denise Williams, Elise Heon, Patrick Calvas
المصدر: Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams, G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen-Kaesbach, G, Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9Test
Genetics in Medicine
Genetics in medicineمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Génétique clinique, Adolescent, PAX6 Transcription Factor, Mutation, Missense, 030105 genetics & heredity, Biology, Microphthalmia, Article, Cohort Studies, Young Adult, 03 medical and health sciences, medicine, Humans, Microphthalmos, Missense mutation, Genetic Predisposition to Disease, Eye Abnormalities, Child, protein destabilization, Genetics (clinical), Genetics, Coloboma, Binding Sites, Anophthalmia, Infant, missense variant, medicine.disease, eye diseases, Pedigree, PAX6, 3. Good health, DNA-Binding Proteins, paired domain, 030104 developmental biology, microphthalmia, Protein destabilization, Aniridia, Child, Preschool, Female, sense organs, Haploinsufficiency
وصف الملف: application/pdf; text; 1 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444e2433a7826bd8fdab584eb7721334Test
https://www.pure.ed.ac.uk/ws/files/120428082/s41436_019_0685_9.pdfTest -
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المؤلفون: Michael P. Clarke, James Love, Amanda J. Churchill, Tony Moore, Françoise Meire, Veronica van Heyningen, Isabel M. Hanson, Richard Axton
المصدر: Human Molecular Genetics. 8:165-172
مصطلحات موضوعية: Male, PAX6 Transcription Factor, media_common.quotation_subject, DNA Mutational Analysis, Molecular Sequence Data, Nonsense, Mutation, Missense, Biology, medicine.disease_cause, Cataract, Ectopia Lentis, Nystagmus, Pathologic, Genetics, medicine, Humans, Paired Box Transcription Factors, Missense mutation, Amino Acid Sequence, Eye Abnormalities, Eye Proteins, Aniridia, Molecular Biology, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), media_common, Family Health, Homeodomain Proteins, Mutation, Binding Sites, Sequence Homology, Amino Acid, General Medicine, medicine.disease, Phenotype, eye diseases, Pedigree, DNA-Binding Proteins, Repressor Proteins, Amino Acid Substitution, Mutation testing, Female, sense organs, PAX6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::333005a723e202b9db0319f2a36e9725Test
https://doi.org/10.1093/hmg/8.2.165Test -
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المصدر: Human Mutation. 12:128-134
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, Biology, Polymerase Chain Reaction, Keratitis, Genetics, medicine, Humans, Paired Box Transcription Factors, Point Mutation, Lymphocytes, Eye Proteins, Frameshift Mutation, Gene, Cells, Cultured, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Sequence (medicine), Homeodomain Proteins, Blood Cells, Single-strand conformation polymorphism, Exons, Sequence Analysis, DNA, medicine.disease, eye diseases, Hypoplasia, DNA-Binding Proteins, Repressor Proteins, Phenotype, Aniridia, Mutation testing, Female, sense organs, PAX6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9100c0a2e9923f51ecd09a7e77d8d29dTest
https://doi.org/10.1002Test/(sici)1098-1004(1998)12:2<128::aid-humu8>3.0.co;2-n -
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المؤلفون: Dinah Rahman, Paul S. Freemont, John Trowsdale, Nicola O’Reilly, Darryl J. Pappin, Gerard I. Evan, Ruth C. Lovering, Isabel M. Hanson, Katherine L. B. Borden, Stephen R. Martin
المصدر: Proceedings of the National Academy of Sciences. 90:2112-2116
مصطلحات موضوعية: Molecular Sequence Data, Biology, Protein Structure, Secondary, Cell Line, Kelch motif, Tumor Cells, Cultured, Ring finger, medicine, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Structural motif, Polycomb Repressive Complex 1, Genetics, Zinc finger, Multidisciplinary, Base Sequence, Sequence Homology, Amino Acid, Zinc Fingers, Cobalt, DNA, Oncogenes, DNA-Binding Proteins, RING finger domain, Zinc, Tetratricopeptide, medicine.anatomical_structure, Spectrophotometry, PHD finger, RNA, Poly A, Sequence motif, HeLa Cells, Protein Binding, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d545f722710b9be09bd2490146f702d0Test
https://doi.org/10.1073/pnas.90.6.2112Test -
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المؤلفون: A. Taylor, P. W. Teague, Isabel M. Hanson, Ian Frampton, E. Simonoff, Isobel Heyman, Veronica van Heyningen
المصدر: Europe PubMed Central
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heterozygote, Adolescent, PAX6 Transcription Factor, Polymerase Chain Reaction, Loss of heterozygosity, Mice, Cognition, Genetics, medicine, Animals, Humans, Paired Box Transcription Factors, Psychiatry, Child, Eye Proteins, Gene, Aniridia, Biological Psychiatry, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Aged, Body Patterning, Homeodomain Proteins, Base Sequence, Mental Disorders, Chromosome Mapping, Exons, Phenotype, eye diseases, Introns, Pedigree, DNA-Binding Proteins, Repressor Proteins, Psychiatry and Mental health, Frontal lobe, Mutation (genetic algorithm), Forebrain, Mutation, Eye development, Female, sense organs, PAX6, Lod Score, Psychology, Cognition Disorders, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28e5070019cd8de12dfd1899a2eed8e1Test
https://pubmed.ncbi.nlm.nih.gov/10412187Test -
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المصدر: Mechanisms of development. 74(1-2)
مصطلحات موضوعية: Fetal Proteins, Embryology, PAX6 Transcription Factor, Mutant, Eye, Nervous System, Proto-Oncogene Mas, Mice, Morphogenesis, Drosophila Proteins, Paired Box Transcription Factors, In Situ Hybridization, Regulation of gene expression, Genetics, Expressed Sequence Tags, Gene Expression Regulation, Developmental, Nuclear Proteins, DNA-Binding Proteins, Drosophila melanogaster, Organ Specificity, Multigene Family, DNA, Complementary, Dachshund, Molecular Sequence Data, Repressor, Nerve Tissue Proteins, Ribs, Biology, Species Specificity, Proto-Oncogene Proteins, Proto-Oncogenes, Animals, Humans, Amino Acid Sequence, Genitalia, Caenorhabditis elegans Proteins, Eye Proteins, Gene, Homeodomain Proteins, Leg, Sequence Homology, Amino Acid, Extremities, eye diseases, Mice, Mutant Strains, Protein Structure, Tertiary, Repressor Proteins, Eye development, PAX6, Sequence Alignment, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8801fcb6ea02393def08cc13106e9f75Test
https://pubmed.ncbi.nlm.nih.gov/9651501Test -
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المؤلفون: Isabel M. Hanson, Veronica van Heyningen
المصدر: Trends in genetics : TIG. 11(7)
مصطلحات موضوعية: animal structures, PAX6 Transcription Factor, Gene Dosage, Gene dosage, Mice, Molecular evolution, Drosophilidae, Genetics, Animals, Humans, Paired Box Transcription Factors, Eye Proteins, Eye Abnormalities, Gene, Aniridia, Homeodomain Proteins, biology, biology.organism_classification, Biological Evolution, eye diseases, DNA-Binding Proteins, Repressor Proteins, Eye development, Drosophila, sense organs, PAX6, Homeotic gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7adb31330486327521e09e409c00471bTest
https://pubmed.ncbi.nlm.nih.gov/7482776Test -
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المؤلفون: J. M. Fletcher, Isabel M. Hanson, Hope H. Punnett, David Taylor, Alison Brown, Veronica van Heyningen, Rebecca J. Adams, Tim Jordan
المصدر: Nature genetics. 6(2)
مصطلحات موضوعية: Male, PAX6 Transcription Factor, Transcription, Genetic, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Biology, Mice, Corneal Opacity, Anterior Eye Segment, Genetics, medicine, Animals, Humans, Paired Box Transcription Factors, Point Mutation, Amino Acid Sequence, RNA, Messenger, Eye Proteins, Gene, In Situ Hybridization, Fluorescence, Cell Line, Transformed, Homeodomain Proteins, Base Sequence, Chromosomes, Human, Pair 11, Infant, Wilms' tumor, medicine.disease, Phenotype, eye diseases, Pedigree, DNA-Binding Proteins, Repressor Proteins, Aniridia, Female, sense organs, PAX6, Homeotic gene, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8563c8756b14e98eee4f0d4843468c22Test
https://pubmed.ncbi.nlm.nih.gov/8162071Test -
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المؤلفون: Isabel M. Hanson, John Trowsdale, Paul S. Freemont
المصدر: Cell. 64(3)
مصطلحات موضوعية: business.industry, Molecular Sequence Data, chemistry.chemical_element, Computational biology, Zinc, Biology, General Biochemistry, Genetics and Molecular Biology, DNA-Binding Proteins, Structure-Activity Relationship, Text mining, chemistry, Metalloproteins, Structure–activity relationship, Amino Acid Sequence, Cysteine, business, Sequence motif, Peptide sequence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e614f143301541d8b9158467c528929dTest
https://pubmed.ncbi.nlm.nih.gov/1991318Test -
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المؤلفون: Alastair F. Brown, Veronica van Heyningen, Isabel M. Hanson
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, PAX6 Transcription Factor, RNA Splicing, Molecular Sequence Data, Biology, Polymerase Chain Reaction, Exon, Genetics, medicine, Humans, Paired Box Transcription Factors, Point Mutation, splice, Eye Proteins, Aniridia, Gene, Genetics (clinical), Loss function, Homeodomain Proteins, Chromosomes, Human, Pair 11, Point mutation, Exons, Sequence Analysis, DNA, medicine.disease, Molecular biology, eye diseases, DNA-Binding Proteins, Repressor Proteins, Mutation (genetic algorithm), Female, sense organs, PAX6, Polymorphism, Restriction Fragment Length, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6eb19c985a3b70737a9cecc130d39ddTest
https://doi.org/10.1136/jmg.32.6.488Test
