نتائج البحث - "Emine Bolat"

المساهمون: Department of human genetics, Radboud University Medical Center [Nijmegen] - Nijmegen Centre for Molecular Life Sciences - Institute for Genetic and Metabolic Disorders, CHU Necker - Enfants Malades [AP-HP], University Medical Center Utrecht, Radboud University Medical Center [Nijmegen]-Nijmegen Centre for Molecular Life Sciences-Institute for Genetic and Metabolic Disorders, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University Medical Center [Utrecht]

المصدر: Journal of Medical Genetics, 48, 6, pp. 390-5
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. 〈10.1136/jmg.2011.088864〉
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. ⟨10.1136/jmg.2011.088864⟩
Journal of Medical Genetics; Vol 48
JOURNAL OF MEDICAL GENETICS, 48(6), 390-395. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 48, 390-5

مصطلحات موضوعية: Male, Carrier Proteins/genetics, Genetics and epigenetic pathways of disease [NCMLS 6], Calcium and bone, medicine.disease_cause, Craniofacial Abnormalities, Ectodermal Dysplasia, Fibroblasts/physiology, Recombinant Proteins/genetics, Molecular genetics, Ciliary tip, Child, Genetics (clinical), Renal disorder [IGMD 9], Netherlands, Oligonucleotide Array Sequence Analysis, 0303 health sciences, Mutation, Renal Medicine, Cilium, 030305 genetics & heredity, Single Nucleotide, Syndrome, Recombinant Proteins, Transport protein, Sensenbrenner syndrome, Morocco, Protein Transport, Flagella, Morocco/ethnology, Cell biology, Protein subunit, Molecular Sequence Data, Netherlands/epidemiology, Biology, Transfection, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cilia/genetics, Intraflagellar transport, Genetics, medicine, Animals, Humans, Clinical genetics, Cilia, Polymorphism, 030304 developmental biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Base Sequence, Siblings, Craniofacial Abnormalities/ethnology, Protein Transport/genetics, Fibroblasts, medicine.disease, Ectodermal Dysplasia/ethnology, Molecular biology, Flagella/genetics, Ciliopathy, HEK293 Cells, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Carrier Proteins

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13edb298f3bdf3f36d77bb649ea87911
https://pubmed.ncbi.nlm.nih.gov/21378380

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8

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase

المؤلفون: C. Johannes Gloeckner, Jeroen van Reeuwijk, Emine Bolat, Karsten Boldt, Susanne Roosing, Stef J.F. Letteboer, Ronald Roepman, Karlien L.M. Coene, Theo A. Peters, Dorus A. Mans, Marius Ueffing, Frans P.M. Cremers

المصدر: Hum. Mol. Genet. 20, 3592-3605 (2011)
Human Molecular Genetics; Vol 20
Human Molecular Genetics, 20, 3592-605
Human Molecular Genetics, 20, 18, pp. 3592-605

مصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], Protein family, Leber Congenital Amaurosis, Protein Serine-Threonine Kinases, Biology, Ciliopathies, Retina, Cell Line, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Cerebellar Diseases, Cerebellum, Genetics, Ciliary rootlet, medicine, Animals, Humans, NIMA-Related Kinases, Abnormalities, Multiple, Cilia, Eye Abnormalities, Rats, Wistar, Molecular Biology, Genetics (clinical), Adaptor Proteins, Signal Transducing, 030304 developmental biology, Serine/threonine-specific protein kinase, 0303 health sciences, Cilium, Proteins, General Medicine, Kidney Diseases, Cystic, medicine.disease, Cilium assembly, Rats, Cytoskeletal Proteins, Ciliopathy, nima-related kinase, polycystic kidney-disease, regulator (rpgr)-interacting protein, leber congenital amaurosis, joubert-syndrome, retinal degeneration, statistical-model, ciliary rootlet, murine models, family kinase, RPGRIP1L, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery, Protein Binding

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96495ec5414979334818ddff17df03bb
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=6167

9

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus

المساهمون: Fundación Pro CNIC, European Commission, National Foundation for Ectodermal Dysplasias, Ministerio de Ciencia e Innovación (España)

المصدر: Plos Genetics, 6, e1001065-e1001065
PLoS Genetics, Vol 6, Iss 8, p e1001065 (2010)
Plos Genetics, 6, 8, pp. e1001065-e1001065
Digital.CSIC. Repositorio Institucional del CSIC
instname
Plos Genetics, 6, 8
Plos Genetics, 6
PLoS Genetics

مصطلحات موضوعية: Keratinocytes, Male, Cancer Research, Genetics and epigenetic pathways of disease [NCMLS 6], Mice, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics and Genomics/Genetics of Disease, Cells, Cultured, Zebrafish, Genetics (clinical), Genetics, Regulation of gene expression, Developmental Biology/Morphogenesis and Cell Biology, Genetics and Genomics/Functional Genomics, Gene Expression Regulation, Developmental, DNA-Binding Proteins, Enhancer Elements, Genetic, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, Functional Neurogenomics [DCN 2], Chromosomes, Human, Pair 7, Research Article, Protein Binding, Chromatin Immunoprecipitation, Proteasome Endopeptidase Complex, Energy and redox metabolism [NCMLS 4], lcsh:QH426-470, Molecular Sequence Data, Limb Deformities, Congenital, Locus (genetics), Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Animals, Humans, Limb development, Enhancer, Transcription factor, Gene, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Homeodomain Proteins, Binding Sites, Base Sequence, Data Science, Membrane Proteins, Genetics and Genomics, DNA binding site, lcsh:Genetics, Genetics and Genomics/Disease Models, Chromatin immunoprecipitation, Developmental Biology, Genome-Wide Association Study, Transcription Factors

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::730e4125bb8d9fe641ebf5541646d1b3
http://hdl.handle.net/2066/88501

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10

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

المؤلفون: Tuula Rinne, Hans Scheffer, Hans van Bokhoven, Emine Bolat, Rowdy Meijer

المصدر: American Journal of Medical Genetics. Part A, 149A, 1948-51
American Journal of Medical Genetics. Part A, 149A, 9, pp. 1948-51

مصطلحات موضوعية: Ectodermal dysplasia, Genetics and epigenetic pathways of disease [NCMLS 6], Cleft Lip, education, DNA Mutational Analysis, Molecular Sequence Data, Neuroinformatics [DCN 3], medicine.disease_cause, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, SAM Domain and HD Domain-Containing Protein 1, Exon, Mice, Ectodermal Dysplasia, TP63, Genetics, medicine, Missense mutation, Animals, Humans, Protein Isoforms, Abnormalities, Multiple, Amino Acid Sequence, Gene, Genetics (clinical), Monomeric GTP-Binding Proteins, Mutation, business.industry, Tumor Suppressor Proteins, Eyelids, DNA, Exons, Syndrome, medicine.disease, Cleft Palate, Trans-Activators, business, Functional Neurogenomics [DCN 2], Sequence Alignment, Rapp–Hodgkin syndrome, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293fb3df58dc7c748da476e7e6e504ba
https://pubmed.ncbi.nlm.nih.gov/19676060

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