Suchergebnisse - "Ectodermal Dysplasia genetics"
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1
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Genetics in medicineSchlagwörter: 0301 basic medicine, FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, Enamel hypoplasia, PROTEINS, Autism Spectrum Disorder, Messenger, Fos-Related Antigen-2/genetics, FOSL2, Fos-Related Antigen-2, Autism Spectrum Disorder/genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, qGenomics Laboratories, 3105 Genetics, Neurodevelopmental Disorders/genetics, 03 medical and health sciences, Adams-Oliver syndrome, IRF4, Ectodermal Dysplasia, Exons/genetics, AP-1 complex, Humans, Aplasia cutis congenita of scalp, RNA, Messenger, FRA-2, enamel hypoplasia, Genetics & Heredity, 0604 Genetics, 0303 health sciences, Science & Technology, ERN-RITA, Scalp, IDENTIFICATION, FOXO1, Ectodermal Dysplasia/genetics, 1103 Clinical Sciences, Exons, Jeffrey Modell Foundation, Transcription Factor AP-1, aplasia cutis congenita of scalp, DIFFERENTIATION, HEK293 Cells, Neurodevelopmental Disorders, RNA, Scalp/abnormalities/metabolism, Human medicine, Transcription Factor AP-1/genetics, Life Sciences & Biomedicine, BONE-FORMATION
Dateibeschreibung: application/pdf
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36197437
http://hdl.handle.net/10261/295379
https://repository.uantwerpen.be/docstore/d:irua:17026
https://hdl.handle.net/10067/1953630151162165141
https://univ-rennes.hal.science/hal-03954791v1
https://doi.org/10.1016/j.gim.2022.09.002
https://univ-rennes.hal.science/hal-03954791v1/document -
2
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Eur J Hum Genet
Schlagwörter: Male, 0301 basic medicine, 0303 health sciences, Cleft Lip, Tumor Suppressor Proteins, Codon, Initiator, Tumor Suppressor Proteins/genetics [MeSH], Development, Transcription Factors/genetics [MeSH], Humans [MeSH], Disease genetics, Codon, Initiator [MeSH], Genetics research, Article, Male [MeSH], Tongue [MeSH], Cleft Lip/genetics [MeSH], Ectodermal Dysplasia/genetics [MeSH], Cleft Palate/genetics [MeSH], Cleft Palate, 03 medical and health sciences, Tongue, Ectodermal Dysplasia, Humans, Technology Platforms, Genes, Cells and Cell-Based Medicine [Topic 1], Transcription Factors
Dateibeschreibung: application/pdf
Zugangs-URL: https://www.nature.com/articles/s41431-021-00967-x.pdf
https://pubmed.ncbi.nlm.nih.gov/34629465
https://www.ncbi.nlm.nih.gov/pubmed/34629465
https://www.nature.com/articles/s41431-021-00967-x.pdf
https://pubmed.ncbi.nlm.nih.gov/34629465/
https://edoc.mdc-berlin.de/21002/
https://www.nature.com/articles/s41431-021-00967-x
http://edoc.mdc-berlin.de/21002/1/21002oa.pdf
https://resolver.sub.uni-goettingen.de/purl?gro-2/123489
https://mbexc.uni-goettingen.de/literature/publications/352
https://repository.publisso.de/resource/frl:6442768 -
3
Autoren: et al.
Schlagwörter: Animals, Newborn, Disease Models, Animal, Drug Administration Routes, Ectodermal Dysplasia/drug therapy, Ectodermal Dysplasia/genetics, Ectodermal Dysplasia/metabolism, Edar Receptor/genetics, Edar Receptor/metabolism, Mice, Phenotype, Recombinant Proteins/administration & dosage, Signal Transduction/drug effects, Treatment Outcome, Amniotic fluid, EDAR signaling, Ectodermal dysplasia, Protein replacement therapy, Route of administration
Dateibeschreibung: application/pdf
Relation: Methods in molecular biology; The TNF Superfamily; https://iris.unil.ch/handle/iris/163366; serval:BIB_7E7970A5AB18; 000706782300013
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Autoren: et al.
Quelle: Genes, vol. 15, no. 1, pp. 8
Schlagwörter: Humans, Dogs, Cattle, Male, Animals, Mice, Ectodermal Dysplasia 1, Anhidrotic/genetics, Mutation, Missense, Ectodermal Dysplasia/genetics, Hypotrichosis, Limb Deformities, Congenital, Fleckvieh, collagen triple helix repeat domain, ectodysplasin A, missense mutation
Dateibeschreibung: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/38275590; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_B9CC7B1AD0C85; https://serval.unil.ch/notice/serval:BIB_B9CC7B1AD0C8; https://serval.unil.ch/resource/serval:BIB_B9CC7B1AD0C8.P001/REF.pdf
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Autoren: et al.
Quelle: International journal of molecular sciences, vol. 24, no. 8, pp. 7155
Schlagwörter: Child, Pregnancy, Female, Infant, Humans, Male, Preschool, Ectodermal Dysplasia 1, Anhidrotic/genetics, Anhidrotic/therapy, Ectodysplasins/genetics, Ectodermal Dysplasia/genetics, Sweating, Hair, Recombinant Proteins, AlphaLisa, ectodermal dysplasia, ectodysplasin A, prenatal therapy, protein replacement, sweat glands, tooth development
Dateibeschreibung: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/37108325; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_55995EB323AC9; https://serval.unil.ch/notice/serval:BIB_55995EB323AC; https://serval.unil.ch/resource/serval:BIB_55995EB323AC.P001/REF.pdf
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Autoren: et al.
Relation: Journal of Investigative Dermatology; https://iris.unil.ch/handle/iris/75587; serval:BIB_1B71143072EE; A1997WE83600017; 9008238
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7
Autoren: et al.
Schlagwörter: DNA Mutational Analysis DNA Primers Ectodermal Dysplasia/*genetics *Gene Deletion Genotype Humans Keratins/*genetics Keratoderma, Palmoplantar/*genetics *Mutation, Missense Nail Diseases/genetics Phenotype Restriction Mapping
Relation: Journal of Investigative Dermatology; https://iris.unil.ch/handle/iris/63671; serval:BIB_1801AD9FA275; 000172903200008
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8
Autoren: et al.
Schlagwörter: Infant, Newborn, Humans, Ectodermal Dysplasia/epidemiology, Ectodermal Dysplasia/genetics, Limb Deformities, Congenital, Europe/epidemiology, Skin, Scalp Dermatoses
Relation: Journal of the European Academy of Dermatology and Venereology; https://iris.unil.ch/handle/iris/49286; serval:BIB_4C73F52B1826; 000881755300001
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9
Autoren: et al.
Schlagwörter: Alternative Splicing, Amino Acid Sequence, Cell Line, Chromatography, Gel, Dimerization, Dose-Response Relationship, Drug, Ectodermal Dysplasia/genetics, Ectodysplasins, Enzyme-Linked Immunosorbent Assay, Exons, Furin, Genetic Linkage, Glycosylation, Humans, Introns, Ligands, Membrane Proteins/chemistry, Membrane Proteins/genetics, Molecular Sequence Data, Mutation, Phenotype, Precipitin Tests, Protein Binding, Protein Structure, Tertiary, Recombinant Proteins/metabolism, Sequence Analysis, Protein
Dateibeschreibung: application/pdf
Relation: Journal of Biological Chemistry; https://iris.unil.ch/handle/iris/225180; serval:BIB_7624ECA7AC18; 000169091000024
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10
Autoren: et al.
Schlagwörter: Child, Preschool, Ectodermal Dysplasia/diagnosis, Ectodermal Dysplasia/genetics, Fatal Outcome, Female, Genetic Linkage, Humans, Hypohidrosis, Infant, Newborn, Translocation, Genetic, Twins, Monozygotic, X Chromosome/genetics
Relation: European Journal of Pediatrics; https://iris.unil.ch/handle/iris/209783; serval:BIB_ABE4579D86A5; 000168525000006
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11
Autoren:
Schlagwörter: Amyloid/*ultrastructure Child Colloids Ectodermal Dysplasia/genetics/*pathology Female Humans Male Microscopy, Electron, Scanning Middle Aged Skin/*ultrastructure Skin Pigmentation Syndrome
Relation: Dermatology; https://iris.unil.ch/handle/iris/145536; serval:BIB_84F33EDE12A0; A1993LY11400005; 8219417
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12
Autoren: et al.
Schlagwörter: Animals, Chemokine CXCL10/genetics, Chemokine CXCL10/metabolism, Chemokine CXCL11/genetics, Chemokine CXCL11/metabolism, Chemokines/metabolism, Disease Models, Animal, Ectodermal Dysplasia/genetics, Ectodermal Dysplasia/metabolism, Ectodysplasins/genetics, Ectodysplasins/metabolism, Hair/growth & development, Hair/metabolism, Hair Follicle/growth & development, Hair Follicle/metabolism, Male, Mice, Inbred C57BL, Knockout, NF-kappa B/metabolism, Signal Transduction/physiology, Skin/metabolism, Tissue Culture Techniques
Relation: Journal of Investigative Dermatology; https://iris.unil.ch/handle/iris/143239; serval:BIB_CCC079E9FC6F; 000301683200007
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13
Autoren: et al.
Schlagwörter: Animals, Cell Proliferation, Cleft Lip/genetics, Cleft Lip/metabolism, Cleft Palate/genetics, Cleft Palate/metabolism, Ectoderm/cytology, Ectoderm/metabolism, Ectodermal Dysplasia/genetics, Ectodermal Dysplasia/metabolism, Eye Abnormalities/genetics, Eye Abnormalities/metabolism, Eyelids/abnormalities, Eyelids/metabolism, Female, Fibroblast Growth Factors/metabolism, Humans, Male, Mice, Inbred C57BL, Knockout, Transgenic, Mutation, Signal Transduction, Stem Cells/cytology, Stem Cells/metabolism, Transcription Factors/genetics, Transcription Factors/metabolism, Tumor Suppressor Proteins/genetics, Tumor Suppressor Proteins/metabolism
Dateibeschreibung: application/pdf
Relation: EMBO Molecular Medicine; https://iris.unil.ch/handle/iris/106121; serval:BIB_4D30AF1EAC08; 000301226000008
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14
Autoren: et al.
Schlagwörter: Animals, Antibodies, Monoclonal, Murine-Derived/genetics, Murine-Derived/immunology, Murine-Derived/toxicity, Neutralizing/genetics, Neutralizing/immunology, Neutralizing/toxicity, Autoantibodies/genetics, Autoantibodies/immunology, Autoantibodies/toxicity, Base Sequence, Cattle, Cell Line, Dogs, Ectodermal Dysplasia/chemically induced, Ectodermal Dysplasia/genetics, Ectodermal Dysplasia/immunology, Ectodermal Dysplasia/metabolism, Ectodermal Dysplasia/pathology, Ectodysplasins/antagonists & inhibitors, Ectodysplasins/genetics, Ectodysplasins/immunology, Ectodysplasins/metabolism, Female, Humans, Male, Mice, Mutant Strains
Dateibeschreibung: application/pdf
Relation: Journal of Biological Chemistry; https://iris.unil.ch/handle/iris/56163; serval:BIB_128AA3C5C25E; 000331403800038
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Autoren: et al.
Quelle: Orphanet J Rare Dis
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)Schlagwörter: Male, 0301 basic medicine, 0303 health sciences, Ectodermal Dysplasia 1, Anhidrotic, Genotype–phenotype correlation, Research, X-chromosome inactivation, Ectodysplasin A, Ectodysplasins, 16. Peace & justice, Chromosomes, Female [MeSH], X-linked hypohidrotic ectodermal dysplasia, Female carriers, Humans [MeSH], Chromosomes [MeSH], Ectodermal Dysplasia 1, Anhidrotic/genetics [MeSH], Male [MeSH], Rare skin diseases, Ectodysplasins/genetics [MeSH], Phenotype [MeSH], Ectodermal Dysplasia/genetics [MeSH], 3. Good health, 03 medical and health sciences, Phenotype, Ectodermal Dysplasia, Medicine, Humans, Female, ddc:610, 10. No inequality
Dateibeschreibung: application/pdf
Zugangs-URL: https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-021-01735-2
https://pubmed.ncbi.nlm.nih.gov/33622384
https://doaj.org/article/9ac5cf23b66b4d7aa79b9ebe8d498c7d
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7901220
https://link.springer.com/article/10.1186/s13023-021-01735-2
https://link.springer.com/content/pdf/10.1186/s13023-021-01735-2.pdf
https://europepmc.org/article/PMC/PMC7901220
https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01735-2
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/17671
https://repository.publisso.de/resource/frl:6463779 -
16
Autoren: Gaide, O.
Schlagwörter: Animals, Ectodermal Dysplasia/genetics, Ectodysplasins, Genetic Diseases, X-Linked/genetics, Humans, Membrane Proteins/genetics, Tumor Necrosis Factor-alpha/genetics
Relation: Dermatology; https://iris.unil.ch/handle/iris/252360; serval:BIB_F892030AD0C9; 000185064400001
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17
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Halbritter, J, Bizet, A A, Schmidts, M, Porath, J D, Braun, D A, Gee, H Y, McInerney-Leo, A M, Krug, P, Filhol, E, Davis, E E, Airik, R, Czarnecki, P G, Lehman, A M, Trnka, P, Nitschké, P, Bole-Feysot, C, Schueler, M, Knebelmann, B, Burtey, S, Szabó, A J, Tory, K, Leo, P J, Gardiner, B, McKenzie, F A, Zankl, A, Brown, M A, Hartley, J L, Maher, E R, Li, C, Leroux, M R, Scambler, P J, Zhan, S H, Jones, S J, Kayserili, H, Tuysuz, B, Moorani, K N, Constantinescu, A, Krantz, I D, Kaplan, B S, Shah, J V, Hurd, T W, Doherty, D, Katsanis, N, Duncan, E L, Otto, E A, Beales, P L, Mitchison, H M & Saunier, S & Hildebrandt, F 2013, ' Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans ', American Journal of Human Genetics, vol. 93, no. 5, pp. 915-25 . https://doi.org/10.1016/j.ajhg.2013.09.012
American Journal of Human GeneticsSchlagwörter: Cytoplasmic Dyneins, Male, 0301 basic medicine, Rib-Polydactyly Syndrome, frameshift mutation, Retinitis Pigmentosa/pathology, mucociliary transport, Intraflagellar Transport Protein, Cerebellar Ataxia/genetics, Dyneins/genetics, jeune syndrome, Ectodermal Dysplasia, Genetics(clinical), exon, gene mutation, European Continental Ancestry Group/genetics, genetic conservation, Bone and Bones/pathology, Zebrafish, cellular distribution, 2. Zero hunger, 0303 health sciences, allele, article, Intracellular Signaling Peptides and Proteins, Cerebellar Ataxia/pathology, Kidney Diseases, Cystic, Ectodermal Dysplasia/genetics, 3. Good health, Cytoplasmic Dyneins/genetics, Van-Creveld-Syndrome, molecular motor, Intracellular Signaling Peptides and Proteins/metabolism, Phenotype, aplasia, Ellis-Van Creveld Syndrome/genetics, Gene Knockdown Techniques, Cystic/genetics, Kidney Diseases, Female, Retinitis Pigmentosa, Ellis-Van Creveld Syndrome/pathology, Asian Continental Ancestry Group, 2716 Genetics (clinical), intron, Cerebellar Ataxia, phenotype, Ellis-Van Creveld Syndrome, Retinitis Pigmentosa/genetics, European Continental Ancestry Group, Molecular Sequence Data, Asphyxiating Thoracic Dystrophy, Bone and Bones/metabolism, Bone and Bones, Zebrafish/genetics, Cystic, Craniosynostoses, 03 medical and health sciences, 1311 Genetics, Genetic, Asian People, Joubert syndrome, Cytoplasmic Dyneins/metabolism, Genetics, Animals, Humans, Asian Continental Ancestry Group/genetics, eukaryotic flagellum, human, Amino Acid Sequence, Alleles, Craniosynostoses/genetics, hypoplasia, Danio rerio, nonhuman, gene interaction, missense mutation, Dyneins, Epistasis, Genetic, excision repair, Fibroblasts, Fibroblasts/pathology, intraflagellar transport B, Bone and Bones/abnormalities, Ectodermal Dysplasia/pathology, Cystic/pathology, Mutation, nephronophthisis, Epistasis, Dyneins/metabolism, Craniosynostoses/pathology, Intracellular Signaling Peptides and Proteins/genetics
Dateibeschreibung: application/pdf
Zugangs-URL: http://www.cell.com/article/S0002929713004527/pdf
https://pubmed.ncbi.nlm.nih.gov/24140113
https://www.research.ed.ac.uk/portal/files/11294950/Defects_in_the_IFT_B_Component_IFT172_Cause_Jeune_and_Mainzer_Saldino_Syndromes_in_Humans.pdf
https://espace.library.uq.edu.au/view/UQ:319462
https://www.cell.com/article/S0002929713004527/abstract
https://www.sciencedirect.com/science/article/pii/S0002929713004527
https://doi.org/10.1016/j.ajhg.2013.09.012
https://www.pure.ed.ac.uk/ws/files/11294950/Defects_in_the_IFT_B_Component_IFT172_Cause_Jeune_and_Mainzer_Saldino_Syndromes_in_Humans.pdf
https://hdl.handle.net/20.500.11820/0ef852bf-ca67-4025-8707-787abc2ed2c4
https://discovery-pp.ucl.ac.uk/id/eprint/1418407/ -
18
Autoren: et al.
Quelle: European Journal of Medical Genetics. 58:14-20
Schlagwörter: Adult, Heart Defects, Congenital, Male, Proto-Oncogene Proteins B-raf, 0301 basic medicine, Failure to thrive - diagnosis, MAP Kinase Kinase 2, MAP Kinase Kinase 1, congenital - diagnosis, preschool, White People, European continental ancestry group - genetics, 03 medical and health sciences, Ectodermal dysplasia - diagnosis, Ectodermal Dysplasia, Humans, Child, Ectodermal dysplasia - genetics, MAP kinase kinase 1 - genetics, 2. Zero hunger, 0303 health sciences, Failure to thrive - genetics, Facies, Poland - epidemiology, Failure to Thrive, 3. Good health, Phenotype, MAP kinase kinase 2 - genetics, Child, Preschool, Mutation, Heart defects, Female, Poland, congenital - genetics, Proto-oncogene proteins B-raf - genetics
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Autoren: et al.
Weitere Verfasser: et al.
Quelle: American Journal of Human Genetics, 87, 3, pp. 418-23
Schlagwörter: 0301 basic medicine, asphyxiating thoracic dystrophy cranioectodermal dysplasia retinal degeneration mutations mouse cilia protein obesity genome tulp3, Sensenbrenner syndrome, Mutation/genetics, WDR35, DNA Mutational Analysis, Molecular Sequence Data, NCMLS 6: Genetics and epigenetic pathways of disease, 03 medical and health sciences, IGMD 3: Genomic disorders and inherited multi-system disorders, Ectodermal Dysplasia, Exons/genetics, Genetics, Humans, Genetics(clinical), Abnormalities, Multiple, Membrane Proteins/genetics, RNA Splice Sites/genetics, Child, 0303 health sciences, Base Sequence, IGMD 9: Renal disorder, Membrane Proteins, Exons, Sequence Analysis, DNA, Syndrome, Ectodermal Dysplasia/genetics, 3. Good health, DNA/methods, Multiple/genetics, Apoptosis Regulatory Proteins/genetics, Mutation, RNA Splice Sites, Abnormalities, Apoptosis Regulatory Proteins, exome sequencing, Sequence Analysis
Zugangs-URL: http://www.cell.com/article/S0002929710004179/pdf
https://pubmed.ncbi.nlm.nih.gov/20817137
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/88664
https://doi.org/10.1016/j.ajhg.2010.08.004
https://research.rug.nl/en/publications/exome-sequencing-identifies-wdr35-variants-involved-in-sensenbren
https://core.ac.uk/display/16173126
http://www.cell.com/AJHG/fulltext/S0002-9297(10)00417-9
https://www.sciencedirect.com/science/article/pii/S0002929710004179
https://www.narcis.nl/publication/RecordID/oai%3Arepository.ubn.ru.nl%3A2066%2F88664
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2933349/
https://hdl.handle.net/1887/117798
https://hdl.handle.net/11541.2/129772
https://repository.ubn.ru.nl//bitstream/handle/2066/88664/88664.pdf
https://hdl.handle.net/2066/88664 -
20
Autoren: et al.
Weitere Verfasser: et al.
Quelle: Birth Defects Research Part B: Developmental and Reproductive Toxicology. 83:97-103
Schlagwörter: Male, 0301 basic medicine, Intercellular Signaling Peptides and Proteins/genetics, Ectodysplasins/genetics, Organogenesis/drug effects, Lymphoid Enhancer-Binding Factor 1, Organogenesis, Ectodysplasins/metabolism, Developmental/drug effects, Inbred C57BL, Lymphoid Enhancer-Binding Factor 1/genetics, Chromosomes, Mice, 03 medical and health sciences, Ethylnitrosourea/toxicity, Ectodermal Dysplasia, Inhibin-beta Subunits/genetics, Tooth Abnormalities/genetics, Animals, Inbred BALB C, Inhibin-beta Subunits, Transcription Factor RelA/genetics, Mice, Inbred BALB C, 0303 health sciences, Tooth Abnormalities/embryology, Tooth Abnormalities, Mammalian, Transcription Factor RelA, Chromosome Mapping, Gene Expression Regulation, Developmental, Ectodysplasins, Newborn, Ectodermal Dysplasia/genetics, Chromosomes, Mammalian, Ectodermal Dysplasia/embryology, Mice, Inbred C57BL, Gene Expression Regulation, Tooth Abnormalities/chemically induced, Animals, Newborn, Ethylnitrosourea, Signal Transduction/genetics, Intercellular Signaling Peptides and Proteins, Female, Ectodermal Dysplasia/chemically induced, Signal Transduction
Dateibeschreibung: 97~103
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/18357618
https://yonsei.pure.elsevier.com/en/publications/implications-for-tooth-development-on-enu-induced-ectodermal -dysp
https://ir.ymlib.yonsei.ac.kr/handle/22282913/108131
http://webbuild.knu.ac.kr/~biotooth/ray_board/downloading.php?data_name=128738182781.pdf&TName=RayBoard_Bbs_Public_data
https://www.ncbi.nlm.nih.gov/pubmed/18357618
https://onlinelibrary.wiley.com/doi/abs/10.1002/bdrb.20146
https://pubmed.ncbi.nlm.nih.gov/18357618/
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