المؤلفون: Fangqi He, Hongfeng Wang, Feng Guo, Qingping Gao, Chang Chen, Xiaoyu Zhang

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, lcsh:Internal medicine, lcsh:QH426-470, Mutant, Gene Expression, Ectodysplasin a gene, Conservation, Gene mutation, Biology, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Genetics, medicine, Pathogenicity, Animals, Humans, Hypohidrotic ectodermal dysplasia, Amino Acid Sequence, lcsh:RC31-1245, Child, Gene, Genetics (clinical), Conserved Sequence, Related homologous proteins, Base Sequence, Point mutation, Computational Biology, Ectodysplasins, medicine.disease, Human genetics, Pedigree, lcsh:Genetics, 030104 developmental biology, Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive, Mutation (genetic algorithm), Mutation, Ectodysplasin A, 030217 neurology & neurosurgery, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62dba5490ffb00f11369b9a79d9ff61dTest
http://europepmc.org/articles/PMC6286515Test

المؤلفون: Swee, L.K., Ingold-Salamin, K., Tardivel, A., Willen, L., Gaide, O., Favre, M., Demotz, S., Mikkola, M., Schneider, P.

المصدر: Journal of Biological Chemistry, vol. 284, no. 40, pp. 27567-27576

مصطلحات موضوعية: Amino Acid Sequence, Animals, Antibodies/pharmacology, Cell Death, Cell Line, Collagen/metabolism, Cross-Linking Reagents/pharmacology, Ectodysplasins/chemistry, Ectodysplasins/deficiency, Embryonic Development, Gene Expression Regulation, Genetic Engineering, Hair/growth & development, Heparan Sulfate Proteoglycans/metabolism, Humans, Keratinocytes/cytology, Keratinocytes/metabolism, Mice, NF-kappa B/metabolism, Protein Multimerization, Protein Structure, Quaternary, Tertiary, Receptors, Ectodysplasin/metabolism, Tail

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19657145; info:eu-repo/semantics/altIdentifier/pissn/1083-351X[electronic], 0021-9258[linking]; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_B2ADDBE575457; https://serval.unil.ch/notice/serval:BIB_B2ADDBE57545Test; https://serval.unil.ch/resource/serval:BIB_B2ADDBE57545.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B2ADDBE575457Test

الإتاحة: https://doi.org/10.1074/jbc.M109.042259Test
https://serval.unil.ch/notice/serval:BIB_B2ADDBE57545Test
https://serval.unil.ch/resource/serval:BIB_B2ADDBE57545.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B2ADDBE575457Test

المؤلفون: Sameer Al-Ghamdi, Muhammad Faiyaz-Ul-Haque, S. Joshi, Hesham Khalil, Nouf S Al-Hammad, Varinderpal S. Dhillon, Ali M. Somily, Hanan Balto, Nasr Abdul-Aziz Sinjilawi, Mohammad Shahid

المصدر: European Journal of Medical Genetics. 59:377-385

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, Sequence analysis, DNA Mutational Analysis, Population, Saudi Arabia, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Gene Order, Genetics, medicine, Humans, Amino Acid Sequence, Child, education, Alleles, Genetics (clinical), Anodontia, MSX1 Transcription Factor, education.field_of_study, Mutation, Computational Biology, Exons, 030206 dentistry, General Medicine, Middle Aged, stomatognathic diseases, Matrix Metalloproteinase 20, Phenotype, 030104 developmental biology, Female, Ectodysplasin A, PAX9 Transcription Factor, PAX9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a73a67afaaebb4c0650b02a9895b782Test
https://doi.org/10.1016/j.ejmg.2016.06.004Test

المؤلفون: Thales Renato Ochotorena de Freitas, Gislene L. Gonçalves, Hopi E. Hoekstra, Gilson R. P. Moreira, Renan Maestri, Marly Antonia Maldaner Jacobi

المصدر: PLoS ONE, Vol 13, Iss 8, p e0202219 (2018)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Evolutionary Genetics, 0106 biological sciences, Rodent, lcsh:Medicine, Animal Phylogenetics, medicine.disease_cause, 01 natural sciences, Mice, Convergent evolution, Medicine and Health Sciences, lcsh:Science, Phylogeny, Data Management, Mammals, chemistry.chemical_classification, 0303 health sciences, Mutation, Multidisciplinary, biology, integumentary system, Edar Receptor, Physics, Eukaryota, Classical Mechanics, Phenotype, Deformation, Amino acid, Phylogenetics, Phenotypes, Vertebrates, Physical Sciences, Anatomy, Integumentary System, Research Article, Computer and Information Sciences, Rodentia, Polymorphism, Single Nucleotide, Rodents, 010603 evolutionary biology, Evolution, Molecular, 03 medical and health sciences, Species Specificity, Valine, Elastic Modulus, Tensile Strength, biology.animal, Genetic variation, Genetics, medicine, otorhinolaryngologic diseases, Ectodysplasin A receptor, Animals, Humans, Evolutionary Systematics, Amino Acid Sequence, Gene, Taxonomy, 030304 developmental biology, Damage Mechanics, Evolutionary Biology, Sequence Homology, Amino Acid, lcsh:R, Organisms, Kangaroo rat, Genetic Variation, Biology and Life Sciences, biology.organism_classification, 030104 developmental biology, Amino Acid Substitution, chemistry, Evolutionary biology, Amniotes, Microscopy, Electron, Scanning, lcsh:Q, sense organs, Zoology, Hair

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e98edcdee46fefd06e5cf988cfc2ac69Test
http://europepmc.org/articles/PMC6097693?pdf=renderTest

المؤلفون: P Calvas, M Cossee, Nicolas Chassaing, Sylvie Bourthoumieu, M.-C. Vincent

المصدر: Human Mutation. 27:255-259

مصطلحات موضوعية: Male, Receptors, Ectodysplasin, Genetic counseling, Molecular Sequence Data, Biology, medicine.disease_cause, Models, Biological, Receptors, Tumor Necrosis Factor, Mice, Ectodermal Dysplasia, Genetic variation, Genetics, medicine, Animals, Humans, Edar Receptor, Genetic Predisposition to Disease, Amino Acid Sequence, Hypohidrotic ectodermal dysplasia, Gene, Genetics (clinical), Hypohidrosis, Mutation, EDARADD, Sequence Homology, Amino Acid, Genetic Variation, medicine.disease, Female, Ectodysplasin A

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0926cf2c1cd0b281fd5549e6ec8f60b5Test
https://doi.org/10.1002/humu.20295Test

المؤلفون: Asma Smahi, Aurore Morlon, Arnold Munnich

المصدر: Human Molecular Genetics. 14:3751-3757

مصطلحات موضوعية: medicine.medical_specialty, Receptors, Ectodysplasin, Molecular Sequence Data, IκB kinase, Biology, Edar-Associated Death Domain Protein, Receptors, Tumor Necrosis Factor, stomatognathic system, Ectodermal Dysplasia, Two-Hybrid System Techniques, Internal medicine, Genetics, medicine, Humans, Immunoprecipitation, Ectodysplasin A receptor, Edar Receptor, Amino Acid Sequence, Molecular Biology, Cells, Cultured, Genetics (clinical), Adaptor Proteins, Signal Transducing, Death domain, TNF Receptor-Associated Factor 6, EDARADD, integumentary system, NF-kappa B, Signal transducing adaptor protein, General Medicine, MAP Kinase Kinase Kinases, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins, Hedgehog signaling pathway, I-kappa B Kinase, Cell biology, Endocrinology, Mutation, Signal transduction, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2a422f200b3983dd0398f1058319adTest
https://doi.org/10.1093/hmg/ddi405Test

المؤلفون: Encarna Guillén-Navarro, Sabine Sigaudy, Christine Coubes, Ghislaine Plessis, Dominique Martin-Coignard, Marc Abramowicz, Philippe Jonveaux, Catherine Vincent-Delorme, Frédéric Vaysse, Isabelle Bailleul-Forestier, Estelle Colin, V. Gaston, Nicolas Chassaing, Didier Lacombe, Bénédicte Demeer, Muriel Holder-Espinasse, Patrick Calvas, Julie Plaisancié, Hélène Dollfus, Eric Bieth, Alain Verloes, Laurence Faivre

المصدر: American Journal of Medical Genetics Part A. 161:671-678

مصطلحات موضوعية: Male, Ectodermal dysplasia, Genotype, Molecular Sequence Data, medicine.disease_cause, Compound heterozygosity, Ectodermal Dysplasia, Genetics, medicine, Humans, Amino Acid Sequence, Hypohidrotic ectodermal dysplasia, Genetic Association Studies, Genetics (clinical), Anodontia, Mutation, EDARADD, Edar Receptor, Genetic heterogeneity, business.industry, medicine.disease, Wnt Proteins, Hypodontia, Phenotype, Female, Ectodysplasin A, business, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ca893150bed34805c51cd519f873dbTest
https://doi.org/10.1002/ajmg.a.35747Test

المؤلفون: Paul T. Sharpe, Abigail S. Tucker, Betsy Ferguson, Paul A. Overbeek, Stephanie A. Emmal, Jonathan Zonana, Denis J. Headon, Monica J. Justice

المصدر: Nature. 414:913-916

مصطلحات موضوعية: Ectodermal dysplasia, Receptors, Ectodysplasin, Molecular Sequence Data, Gene Expression, Biology, Receptors, Tumor Necrosis Factor, Cell Line, Mice, stomatognathic system, Ectodermal Dysplasia, medicine, Animals, Humans, Ectodysplasin A receptor, Edar Receptor, Amino Acid Sequence, Hypohidrotic ectodermal dysplasia, Death domain, Genetics, Mice, Inbred C3H, Multidisciplinary, EDARADD, Sequence Homology, Amino Acid, integumentary system, NF-kappa B, Membrane Proteins, medicine.disease, Protein Structure, Tertiary, Mice, Inbred C57BL, Mutation, Ectodysplasins, Ectodysplasin A, Protein Binding, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d1840a77a2d3e90fe9dfb56e2a01921Test
https://doi.org/10.1038/414913aTest

المؤلفون: Tan B, Lingqian Wu, Jinjie Xue, Zhu Gs, Gao Qp, Desheng Liang

المصدر: Genetics and molecular research : GMR. 14(4)

مصطلحات موضوعية: Adult, Male, DNA Mutational Analysis, Biology, Young Adult, Genetics, medicine, Missense mutation, Humans, Hypohidrotic ectodermal dysplasia, Amino Acid Sequence, Allele, Molecular Biology, Gene, Alleles, Ectodermal Dysplasia 1, Anhidrotic, Base Sequence, General Medicine, Ectodysplasins, medicine.disease, Pedigree, Phenotype, Amino Acid Substitution, Mutation (genetic algorithm), Mutation, Mutation testing, Ectodysplasin A, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f86f324210d994bbf0c55449cb0e85Test
https://pubmed.ncbi.nlm.nih.gov/26634545Test

المؤلفون: Jonathan Zonana, Betsy Ferguson, Denis J. Headon, Summer L. Street, Alex W. Monreal, Paul A. Overbeek

المصدر: Nature Genetics. 22:366-369

مصطلحات موضوعية: Genetic Markers, Male, Candidate gene, Ectodermal dysplasia, Receptors, Ectodysplasin, Molecular Sequence Data, Genes, Recessive, Locus (genetics), Biology, Receptors, Tumor Necrosis Factor, Mice, Ectodermal Dysplasia, Genetics, medicine, Animals, Humans, Edar Receptor, Tissue Distribution, Amino Acid Sequence, Hypohidrotic ectodermal dysplasia, Allele, Alleles, Genes, Dominant, EDARADD, Sequence Homology, Amino Acid, Membrane Proteins, Physical Chromosome Mapping, medicine.disease, Pedigree, Mutation, Female, Ectodysplasin A

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f6cf971df1e94ffbd4127e8129ec35cTest
https://doi.org/10.1038/11937Test