المؤلفون: Nicholas, Adeline K., Serra, Eva G., Cangül, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G., Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H., Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F., Gregory, John W., Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R., Chatterjee, V. Krishna K., Anderson, Carl A., Schoenmakers, Nadia

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Sağlam, Halil, C-7392-2019

مصطلحات موضوعية: TPO protein, TG gene, Iodide peroxidase, Dual Oxidases, Congenital Hypothyroidism, Oxidoreductases, IYD gene, Autoantigens, Gene, Receptor gene, Thyroglobulin gene, Computer model, Phenomics, DUOX2 gene, Endocrinology & metabolism, Priority journal, Allele, Iodide organification defects, Goiter, Sequence analysis, TSHR gene, Pedigree, Phenotype, Iron-binding proteins, Cohort analysis, Human, TPO gene, Clinical article, Population, DNA sequence, Thyrotropin receptor, Guidelines, Thyroglobulin, Article, Autoantigen, Next generation sequencing, Genetic screening, Genetics, Humans, Pathogenicity, Genetic variation, Iron binding protein, Gene mutation, Receptors, thyrotropin, SLC5A5 gene, Congenital hypothyroidism, Japanese patients, DUOX2 mutations, Mutation, Genetic association, SLC26A4 gene, DUOXA2 gene, Dyshormonogenesis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______9458::3810ac6a99c7dd94cdc363c1031129f2Test
http://hdl.handle.net/11452/28837Test

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

الإتاحة: https://doi.org/10.1038/ng1826Test
http://hdl.handle.net/11452/21406Test

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

المؤلفون: Morgan, Neil V., Forman, Julia R., Aycan, Zehra, Böber, Ece, Cesur, Yaşar, Kirby, Gail A., Pasha, Shanaz S., Çetinkaya, Semra Çağlar, Baş, Veysel Nihat, Demir, Korcan, Yuca, Sevil Arı, Meyer, Esther, Högler, Wolfgang, Timothy Barrett, Timothy, Mäher, Eamonn Richard

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Halk Sağlığı Anabilim Dalı., Cangül, Hakan, Sağlam, Halil, Yakut, Tahsin, Gülten, Tuna, Tarım, Ömer Faruk, Karkucak, Mutlu, Eren, Erdal, Kendall, Michaela, C-7392-2019, AAM-1734-2020

مصطلحات موضوعية: Molecular-cloning, Identification, Rhodopsin, Turkey, Resistance, Thyrotropin, Thyrotropin receptor, Expression, Major clinical study, Environment, Transcription factor Nkx2.5, Article, Congenital Hypothyroidism, Thyroid Dysgenesis, Newborn, Consanguinity, Complex, DNA mutational analysis, Transcription factors, Humans, Genotype phenotype correlation, Pakistan, Missense mutation, Gene mutation, Child, Endocrinology & metabolism, Priority journal, Receptors, thyrotropin, Microsatellite marker, Great Britain, Paired box transcription factors, Follitropin, Mutational analysis, Hormone, Homeodomain proteins, Autosomal recessive inheritance, Pedigree, Congenital hypothyroidism, Transcription factor PAX8, Thyrotropin, beta subunit, Mutation, Follitropin receptor, Reverse transcription polymerase chain reaction, Thyrotropin-receptor, Models, molecular, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______9458::f0f52c789e7ad5dacacddbf90ab20619Test
http://hdl.handle.net/11452/28370Test

المؤلفون: Tanju Başarir Özkan, Figen Gürakan, Andreas Zaucker, Ferenc Müller, Randolph P. Matthews, Hanna Mandel, Steve G. Thomas, Jurica Vuković, Hartwig Wolburg, A.S. Knisely, Eda Utine, Andrew R. Cullinane, Fatimah Rahman, Irwin M. Arias, Paul Gissen, Jonas Denecke, Maja Di Rocco, Joshua Z. Rappoport, Guanmei Luo, Yoshiyuki Wakabayashi, Christopher K. Bruce, Deirdre Kelly, Hakan Cangul, Eamonn R. Maher, Anna Straatman-Iwanowska

المساهمون: Çocuk Sağlığı ve Hastalıkları, Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Özkan, Tanju Başarır, Cangül, Hakan

مصطلحات موضوعية: Lymphocyte antigen, Pathology, Carrier proteins, Unclassified drug, Mouse, Vesicular Transport Proteins, Protein function, VIPAR, ARC syndrome, epithelial polarization, medicine.disease_cause, Epithelium, Biliary excretion, Mice, Membrane proteins, Zebrafish, Priority journal, Arthrogryposis, Genetics & Heredity, Kidney, Mutation, Cholestasis, Kidney diseases, Arc (protein), Tight junction, Plasma-membrane, Protein interaction, Syndrome, Cadherins, Phenotype, medicine.anatomical_structure, Cell polarity, Gray Platelet Syndrome, Megakaryocytes, Blood Platelets, Protein vipar, medicine.symptom, Uvomorulin, medicine.medical_specialty, Recycling endosomes, Vacuole fusion, Down regulation, Protein degradation, Biology, Article, Protein ceacam 5, Complex, Genetics, medicine, Animals, Humans, Kidney dysfunction, Animal model, Rab11a protein, Animal experiment, Gene mutation, Tight junctions, Danio rerio, E-cadherin, Myosin VB, Nonhuman, medicine.disease, Zebrafish proteins, Animals, genetically modified, Membrane protein, Rab11, Arc syndrome, Immunology, Carcinoembryonic antigen, Protein structure, Rab11 protein, Protein expression, Cell, Controlled study, Intracellular trafficking

وصف الملف: text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::538a207a600e42d6258862fe23c6edefTest
http://hdl.handle.net/11655/14200Test

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