المؤلفون: Aycan, Zehra, Cangül, Hakan, Muzza, Marina, Bas, Veysel N., Fugazzola, Laura, Chatterjee, V. Krishna, Persani, Luca, Schoenmakers, Nadia

المساهمون: Chatterjee, Krishna [0000-0002-2654-8854], Schoenmakers, Nadia [0000-0002-0847-2884], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Digenic DUOX1, Male, Genotype, endocrine system diseases, Infant, Newborn, Genetic Variation, Infant, NADPH Oxidases, Thyroid Function Tests, Dual Oxidases, Severity of Illness Index, Pedigree, Cohort Studies, Phenotype, Codon, Nonsense, Congenital Hypothyroidism, Humans, Female, Genetic Predisposition to Disease, DUOX2, Mutations, Retrospective Studies

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bec571f371b9afdfae6c58078baf6a34Test
https://aperta.ulakbim.gov.tr/record/46165Test

المؤلفون: Herman Yee, Max Costa, Konstantin Salnikow, Thérèse Commes, David Zagzag, Hakan Cangul

المساهمون: Uludağ Üniversitesi/Fen Edebiyat Fakültesi/Biyokimya Bölümü., Cangül, Hakan

المصدر: Environmental Health Perspectives

مصطلحات موضوعية: Lung Neoplasms, Cap43, Health, Toxicology and Mutagenesis, Expression, Cell Cycle Proteins, Biology, Toxicology, Gene, Environmental sciences & ecology, Biomarkers, Tumor, Tumor Cells, Cultured, medicine, Protein biosynthesis, Humans, RNA, Messenger, Nuclear protein, Transcription factor, Regulation of gene expression, P53, Messenger RNA, Hıf-1 Alpha, Hypoxia signature, Melanoma, Intracellular Signaling Peptides and Proteins, Public Health, Environmental and Occupational Health, Nuclear Proteins, Proteins, Public, Hypoxia (medical), Blotting, Northern, Hypoxia-Inducible Factor 1, alpha Subunit, medicine.disease, Cancer-specific, Cell Hypoxia, Cell biology, Environmental sciences, DNA-Binding Proteins, Ca2+, Antibody detection, Gene Expression Regulation, Protein Biosynthesis, Colonic Neoplasms, Cancer cell, Environmental & occupational health, Hypoxia-Inducible Factor 1, medicine.symptom, Public, environmental & occupational health, Research Article, Transcription Factors

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1250b3977bb964ee436d9c33ad74719cTest
https://doi.org/10.1289/ehp.02110s5783Test

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

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd43b680d45e7dc979a73b0d09e171d1Test
https://doi.org/10.1038/ng1826Test

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