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1دورية أكاديميةAn essential splice site mutation (c.317+1G > A) in the TSHR gene leads to severe thyroid dysgenesis
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı., orcid:0000-0002-1684-1053, orcid:0000-0003-0710-5422, Sağlam, Halil, Eren, Erdal, Doǧan, Durmuş, AAM-1734-2020, C-7392-2019, 35612700100, 36113153400, 24467663400
مصطلحات موضوعية: Congenital hypothyroidism, Endocrinology & metabolism, Gene, Locus, Mutation, Complex, Splicing, Heterogeneity, Thyroid dysgenesis, genetics, Resistance, Tshr, Pediatrics, Glycoprotein hormone-receptors, Stimulating-hormone, Thyrotropin-receptor, Consanguineous families, Female, Humans, Infant, newborn, Male, Receptors, thyrotropin, Article, Disease severity, Gene locus, Genetic association, Genetic linkage, Heterozygote
العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Pediatric Endocrinology and Metabolism; Yurt içi; Yurt dışı; Sanayi; Cangül, H. vd. (2014). "An essential splice site mutation (c.317+1G > A) in the TSHR gene leads to severe thyroid dysgenesis". Journal of Pediatric Endocrinology and Metabolism, 27(9-10), 1021-1025.; https://hdl.handle.net/11452/39874Test; 000341429100037; 2-s2.0-84906981161; 1021; 1025; 27; 9-10; https://doi.org/10.1515/jpem-2014-0048Test
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2دورية أكاديمية
المؤلفون: Morgan, Neil V., Westaway, Shawn K, Morton, Jenny E. V., Gregory, Allison, Gissen, Paul, Sonek, Scott, Coryell, Jason, Canham, Natalie, Nardocci, Nardo, Giovanna, Giovanna, Shanaz, Shanaz, Rodriguez, Diana, Desguerre, Isabelle, Mubaidin, Amar, Bertin, Enrico, Trembath, Richard C., Simonati, Alessandro, Schanen, Carolyn, Johnson, Colin A., Levinson, Barbara, Woods, C. Geoffrey, Wilmot, Beth, Kramer, Patricia, Gitschier, Jane, Maher, Eamonn R., Hayflick, Susan J.
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Cangül, Hakan, 8911611600
مصطلحات موضوعية: Genetics & heredity, Involvement, Hallervorden-spatz-syndrome, Infantile neuroaxonal dystrophy, Brain, Chromosomes, Human, Pair 22, Female, Heredodegenerative Disorders, Nervous System, Humans, Iron, Male, Mutation, Neuroaxonal Dystrophies, Phospholipases A, Syndrome, Pantothenate Kinase-Associated Neurodegeneration, Neurodegeneration with Brain Iron Accumulation, Calcium, Phospholipase A2, Alzheimer disease, Chromosome 22q, Degenerative disease, Frameshift mutation, Gene, Gene locus, Gene mapping, Gene mutation
وصف الملف: application/pdf
العلاقة: Makale - Uluslararası Hakemli Dergi; Nature Genetics; Yurt dışı; Sanayi; Morgan, N. V. vd. (2006). ''PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron''. Nature Genetics, 38(7), 752-754.; https://doi.org/10.1038/ng1826Test; http://hdl.handle.net/11452/21406Test; 000238669300009; 2-s2.0-33745553895; 752; 754; 38
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المؤلفون: Jane Gitschier, Richard C. Trembath, Shawn K. Westaway, Jason Coryell, Carolyn Schanen, Paul Gissen, Shanaz Pasha, Nardo Nardocci, Alessandro Simonati, Jenny Morton, Beth Wilmot, Patricia L. Kramer, Isabelle Desguerre, Enrico Bertini, Colin A. Johnson, Allison Gregory, Giovanna Zorzi, Barbara Levinson, Neil V. Morgan, C. Geoffrey Woods, Natalie Canham, Amar Mubaidin, Hakan Cangul, Eamonn R. Maher, Susan J. Hayflick, Scott Sonek, Diana Rodriguez
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Cangül, Hakan
المصدر: Nature Genetics. 38:752-754
مصطلحات موضوعية: Male, Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation, Chromosomes, Human, Pair 22, INAD, NBIA, PLA2G6, Neuroferritinopathy, Pathogenesis, Nervous System, Gene, Gene locus, Phospholipase A2, Homeostasis, Missense mutation, Karak syndrome, Genetics, biology, Genetics & heredity, Brain, Syndrome, Parkinson disease, Heredodegenerative Disorders, Nervous System, Female, Heredodegenerative Disorders, Alzheimer disease, Alzheimer's disease, Human, Iron, Neuroaxonal Dystrophies, Neuroaxonal dystrophy, Article, Phospholipases A, WDR45, Hallervorden-spatz-syndrome, Frameshift mutation, medicine, Humans, Chromosome 22q, Gene mutation, Nerve degeneration, Gene mapping, medicine.disease, PANK2, Phospholipases A2, Degenerative disease, Mutation, biology.protein, Calcium, Involvement, PLA2G6 gene, Pantothenate Kinase-Associated Neurodegeneration, Neurodegeneration with Brain Iron Accumulation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd43b680d45e7dc979a73b0d09e171d1Test
https://doi.org/10.1038/ng1826Test -
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المؤلفون: Dean Gentle, Hans-Christoph Rossbach, Carlos Dalence, Richard C. Trembath, Anna Straatman-Iwanowska, Nicholas J. Davies, Hakan Cangul, Eamonn R. Maher, Serdar Ceylaner, Peter Devilee, Paul Gissen, Mark R. Morris, Fatimah Rahman, Maaike P.G. Vreeswijk, David Tannahill, Margaret A. Knowles, Erol Kismet, Diane Gleeson, Vedat Koseoglu, Stephen Keenan, Neil V. Morgan, Shanaz Pasha
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Cangül, Hakan
المصدر: PLoS Genetics, 6(2)
PLoS Genetics, Vol 6, Iss 2, p e1000833 (2010)
PLoS Genetics
PLoS Genetics, 6 (2), Article e1000833. (2010)مصطلحات موضوعية: Hypertrichosis, Pathology, Adenosine, Mouse, Lymphadenopathy, Apoptosis, Pathogenesis, Faisalabad histiocytosis, Embryo development, Gene, Animal embryo, Chromosome 10, Mice, Consanguinity, Breast cancer, 0302 clinical medicine, Cell proliferation, Gene expression regulation, 0303 health sciences, Physical chromosome mapping, RNA, small interfering, 3. Good health, Histiocytosis, 030220 oncology & carcinogenesis, HeLa cell, Human, Protein slc29a3, medicine.medical_specialty, Embryo, mammalian, Cells, Genetic loci, Urinary bladder neoplasms, Clinical article, SLC29A3 protein, Article, 03 medical and health sciences, Genetics, Humans, Cancer cell culture, Family, Chromosome 10q, Molecular Biology, Alleles, Gene mapping, Ecology, Evolution, Behavior and Systematics, Histiocyte, Animal, Chromosomes, human, pair 10, Tumor cell line, ENT3 protein, medicine.disease, Rosai Dorfman disease, Cell line, tumor, Human cell, Chromosome map, Mutation, Cell strain HEK293, Gene expression, Breast neoplasms, Nucleotide sequence, Cancer Research, Candidate gene, Unclassified drug, Growth, Gene locus, Colony-forming units assay, Animal tissue, DNA mutational analysis, adenosine induces apoptosis sensorineural deafness cells lymphadenopathy activation brothers pathway growth cancer hent3, Histiocytosis, sinus, Molecular genetics, Genetics and Genomics/Genetics of Disease, Genetics (clinical), Rosai–Dorfman disease, Allele, Genetics & heredity, Bladder cancer, Syndrome, Small interfering RNA, Phenotype, Embryo, Histiocytoses, Genetics and Genomics/Gene Discovery, Female, Research Article, lcsh:QH426-470, Breast tumor, ADENOSINE INDUCES APOPTOSIS, SENSORINEURAL DEAFNESS, CELLS, LYMPHADENOPATHY, ACTIVATION, BROTHERS, PATHWAY, GROWTH, CANCER, HENT3, Nucleoside transporter, Biology, Germline mutation, Molecular sequence data, Bladder tumor, medicine, Animals, Gene mutation, Sinus Histiocytosis, Emperipolesis, Sinus histiocytosis, 030304 developmental biology, Equilibrative nucleoside transporter 3, Nucleoside transport proteins, Clonogenic assay, Sinus Histiocytosis with Massive Lymphadenopathy, Carrier proteins and binding proteins, Mutational analysis, Nonhuman, Base sequence, Autosomal recessive inheritance, lcsh:Genetics, Metabolism, Clinical feature, Protein protein interaction, Equilibrative nucleoside transporter, Controlled study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3211d2c6698969a5cb20cd46c412a444Test
https://doi.org/10.1371/journal.pgen.1000833Test