المؤلفون: Ho W. K. W., Freem L., Zhao D., Painter K. J., Woolley T. E., Gaffney E. A., McGrew M. J., Tzika A., Milinkovitch M. C., Schneider P., Drusko A., Matthaus F., Glover J. D., Wells K. L., Johansson J. A., Davey M. G., Sang H. M., Clinton M., Headon D. J.

المساهمون: Ho, W. K. W., Freem, L., Zhao, D., Painter, K. J., Woolley, T. E., Gaffney, E. A., Mcgrew, M. J., Tzika, A., Milinkovitch, M. C., Schneider, P., Drusko, A., Matthaus, F., Glover, J. D., Wells, K. L., Johansson, J. A., Davey, M. G., Sang, H. M., Clinton, M., Headon, D. J.

مصطلحات موضوعية: Animal, Biomechanical Phenomena, Bird, Cell Aggregation, Cell Count, Cell Movement, Cell Shape, Ectodysplasin, Edar Receptor, Feather, Fibroblast Growth Factor, Flight, Mesoderm, Skin, beta Catenin, Body Patterning, Signal Transduction

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000460317100023; volume:17; issue:2; firstpage:e3000132; numberofpages:38; journal:PLOS BIOLOGY; http://hdl.handle.net/11583/2882307Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85061984400

الإتاحة: https://doi.org/10.1371/journal.pbio.3000132Test
http://hdl.handle.net/11583/2882307Test

المؤلفون: Tao Cai, Miao Yu, Hong Qu, Liutao Zhang, Jinglei Zheng, Yang Liu, Dong Han, Yongsheng Zhou, Haochen Liu, Hailan Feng, Sing-Wai Wong, Zhuangzhuang Fan

المصدر: Human Mutation. 41:1957-1966

مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Genotype, DNA Mutational Analysis, Oligodontia, Biology, Young Adult, 03 medical and health sciences, stomatognathic system, Exome Sequencing, Genetics, medicine, Humans, Ectodysplasin A receptor, Hypohidrotic ectodermal dysplasia, Child, Genetics (clinical), Anodontia, 030304 developmental biology, 0303 health sciences, EDARADD, integumentary system, Edar Receptor, 030305 genetics & heredity, Genetic disorder, medicine.disease, Child, Preschool, Mutation, Female, Ectodysplasin A, Haploinsufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f2114ac973dad1f2e501100658ce12Test
https://doi.org/10.1002/humu.24104Test

المؤلفون: Maha Rashed Abouzaid, Nehal F. Hassib, Hoda Abdalla Ahmed, Mohamed Ahmed Abdel‐Kader, Mostafa I. Mostafa, Mennat I Mehrez, Ghada El-Kamah, Suher Zada, Inas S. M. Sayed, Khalda Amr, Yasmine H. Mohsen, Eman Rabie

المصدر: Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1389, p 1389 (2021)

مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, Heterozygote, EDARADD, QH426-470, Gene mutation, Biology, hypohidrotic ectodermal eysplasia, Edar-Associated Death Domain Protein, Article, Genotype-phenotype distinction, Ectodermal Dysplasia, Genetics, medicine, Humans, oligodontia, Child, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Edar Receptor, EDAR, WNT10A, Infant, ectodermal eysplasia, Ectodysplasins, Middle Aged, medicine.disease, Wnt Proteins, EDA, Child, Preschool, Mutation, ectodysplasin A, hypodontia, Hypotrichosis, Ectodysplasin A, Egypt, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5ba72ef3a5b4aa11737c3a1daf3bd49Test

المؤلفون: Tomoko Okita, Nobuyuki Asano, Yutaka Shimomura, Shuichiro Yasuno

المصدر: The Journal of Dermatology. 46:710-715

مصطلحات موضوعية: Dermatology, Biology, Gene mutation, Edar-Associated Death Domain Protein, medicine.disease_cause, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, medicine, Humans, Ectodysplasin A receptor, Hypohidrotic ectodermal dysplasia, Genes, Dominant, Genetics, Mutation, Ectodermal Dysplasia 1, Anhidrotic, EDARADD, integumentary system, Edar Receptor, Genetic disorder, General Medicine, medicine.disease, HEK293 Cells, 030220 oncology & carcinogenesis, Hypotrichosis, Ectodysplasin A

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21aba5608449a03ebe902cc7f7ae094eTest
https://doi.org/10.1111/1346-8138.14983Test

المؤلفون: Wenjing Shen, Chunyan Liu, Xuanting Kong, Ye Liu, Hongyu Zhang, Lingqiang Meng, Guozhong Zhang, Yan Hou, Jiabao Ren, Qingqing Du, Shuo Yuan

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 6, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, non‐syndromic tooth agenesis, Mutation, Missense, QH426-470, 030105 genetics & heredity, Biology, Gene mutation, medicine.disease_cause, 03 medical and health sciences, symbols.namesake, stomatognathic system, EDA gene, Genetics, medicine, Missense mutation, Humans, Molecular Biology, Genetics (clinical), Exome sequencing, Anodontia, Sanger sequencing, Mutation, EDARADD, Whole Genome Sequencing, Edar Receptor, Original Articles, Ectodysplasins, missense variant, Pedigree, 030104 developmental biology, Phenotype, symbols, EDAR gene, Ectodysplasin A, Original Article, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54324856a1c9ab721b459dbdcdfaa0d2Test
http://europepmc.org/articles/PMC8222839Test

المؤلفون: Elin Lehrmann, Weidong Wang, Zhong Wang, Jian Sima, Yongqing Zhang, Ramaiah Nagaraja, Zhijiang Yan, David Schlessinger, Yaohui Chen

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: Male, Transcriptional Activation, 0301 basic medicine, Transcription, Genetic, Chromosomal Proteins, Non-Histone, Organogenesis, RelB, Chromatin remodeling, chromatin remodeling, Mice, 03 medical and health sciences, Transcription (biology), Animals, Humans, BAF, RNA, Small Interfering, Gene, Skin, ectodysplasin, Mice, Knockout, Regulation of gene expression, Multidisciplinary, Edar Receptor, Chemistry, Gene Expression Profiling, RELB, Transcription Factor RelB, NF-kappa B, Proteins, Ectodysplasins, Biological Sciences, Chromatin, SWI/SNF, Up-Regulation, Cell biology, Mice, Inbred C57BL, HEK293 Cells, 030104 developmental biology, Female, Ectodysplasin A, Signal Transduction, Transcription Factors, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1174c739d2c2ad1f489d5f07f1eaec85Test
https://doi.org/10.1073/pnas.1800930115Test

المؤلفون: Shimpei Gotoh, Ryosuke Kimura, Hironori Fujita, Hajime Ishida, Keiichi Kataoka, Akira Arasaki, Mutsumi Isa

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Adult, Male, Science, Morphogenesis, Morphology (biology), Biology, Tooth crown, Article, 03 medical and health sciences, Tooth root, Young Adult, 0302 clinical medicine, stomatognathic system, Polymorphism (computer science), Ectodysplasin A receptor, Computational models, Humans, Computational analysis, Tooth Root, Genetic association study, Aged, Tooth Crown, Multidisciplinary, Polymorphism, Genetic, Edar Receptor, 030206 dentistry, Middle Aged, stomatognathic diseases, 030104 developmental biology, Evolutionary biology, Odontogenesis, Medicine, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e03cd2942df3455520bcfd90bdbc732cTest
http://hdl.handle.net/20.500.12000/50051Test

المؤلفون: Gabriel Q. Shaibi, G. Richard Scott, Eleanna De Filippis, Lawrence J. Mandarino, Janet L. Funk, Luis A. Garcia, Aaron D. Norman, Valentina Hernandez, Leslea J. Hlusko, Celine M. Vachon, Dawn K. Coletta

المساهمون: Chaubey, Gyaneshwer

المصدر: PloS one, vol 16, iss 10
PLoS ONE
PLoS ONE, Vol 16, Iss 10, p e0258212 (2021)

مصطلحات موضوعية: Oncology, Blood Glucose, Male, Heredity, Glycated Hemoglobin A, Physiology, Organic chemistry, Biochemistry, Homozygosity, Diagnostic Radiology, Body Mass Index, Medical Conditions, Gene Frequency, Breast Tumors, Medicine and Health Sciences, Diabetes diagnosis and management, Medicine, 2.1 Biological and endogenous factors, Prediabetes, Registries, Vitamin D, Biological Specimen Banks, Breast Density, Cancer, Metabolic Syndrome, Multidisciplinary, Edar Receptor, Radiology and Imaging, Diabetes, Arizona, Vitamins, Hispanic or Latino, Middle Aged, Ectodysplasins, Mammary Glands, Physical sciences, Chemistry, Physiological Parameters, Female, Anatomy, Research Article, Mammography, Adult, medicine.medical_specialty, HbA1c, Imaging Techniques, General Science & Technology, Science, Advisory Committees, Research and Analysis Methods, Chemical compounds, Insulin resistance, Breast cancer, Exocrine Glands, Clinical Research, Diabetes mellitus, Internal medicine, Organic compounds, Breast Cancer, Genetics, Ectodysplasin A receptor, Humans, Genetic Predisposition to Disease, Hemoglobin, Obesity, Genetic Association Studies, Metabolic and endocrine, Nutrition, Glycated Hemoglobin, business.industry, Body Weight, Reproductive System, Type 2 Diabetes Mellitus, Cancers and Neoplasms, Biology and Life Sciences, Proteins, medicine.disease, Diagnostic medicine, Metabolic Disorders, Mutation, Metabolic syndrome, Insulin Resistance, business, Breast Tissue

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d59d6f61aebb5cc40b810a5a11bc7a2Test
https://escholarship.org/uc/item/9m67715gTest

المؤلفون: Jia Nee Foo, Ghazanfar Ali, Musharraf Jelani, Chiea Chuen Khor

المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Genome Institute of Singapore, A*STAR

المصدر: The journal of gene medicineREFERENCES. 21(9)

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Genetic counseling, Mutation, Missense, Genes, Recessive, Biology, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, stomatognathic system, Gene Frequency, Drug Discovery, Exome Sequencing, Genetics, medicine, Missense mutation, Ectodysplasin A receptor, Humans, Medicine [Science], Hypohidrotic ectodermal dysplasia, Molecular Biology, Genetics (clinical), Alleles, EDARADD, Ectodermal Dysplasia 1, Anhidrotic, integumentary system, Edar Receptor, medicine.disease, Hypohidrotic Ectodermal Dysplasia, Pedigree, Minor allele frequency, 030104 developmental biology, Phenotype, 030220 oncology & carcinogenesis, Molecular Medicine, Ectodysplasin A, Female, Ectodysplasin A Receptor, Congenital disorder

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95a7301c854736a2164d951c0e546cfTest
https://pubmed.ncbi.nlm.nih.gov/31310406Test

المؤلفون: Sophie Léon, Patrick Mehlen, Amélie Royet, Vincent Laudet, Jonathan Vial, Marie Castets, Sarah Dinvaut, Sophie Pantalacci, Garance Tondeur, Arnaud de la Fouchardière, Olivier Micheau, Denis Maillet, Marion Creveaux, Stéphane Dalle, Lise Gratadou-Hupon, L. Depaepe, Philippe A. Cassier, Alexa Sadier, Antonin Tortereau

المساهمون: Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ecole Nationale Vétérinaire de Lyon (ENVL), Interactions Cellules Environnement - UR (ICE), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Laboratoire de biologie et modélisation de la cellule (LBMC UMR 5239), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Département de Dermatologie [CH Lyon-Sud, Pierre-Bénite], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Léon Bérard [Lyon], Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Observatoire océanologique de Banyuls (OOB), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Cell Death and Differentiation
Cell Death and Differentiation, 2019, 26, pp.443-454. ⟨10.1038/s41418-018-0128-1⟩
Cell Death and Differentiation, Nature Publishing Group, 2019, 26, pp.443-454. ⟨10.1038/s41418-018-0128-1⟩

مصطلحات موضوعية: 0301 basic medicine, Programmed cell death, Mice, Nude, Dependence receptor, Biology, Article, law.invention, 03 medical and health sciences, Mice, 0302 clinical medicine, stomatognathic system, law, Cell Line, Tumor, medicine, Ectodysplasin A receptor, Animals, Humans, Tumor Necrosis Factor receptor (TNFR), Receptor, Molecular Biology, Melanoma, Mice, Knockout, Cell Death, integumentary system, Kinase, Edar Receptor, HEK 293 cells, Ectodysplasin receptor EDAR, Cell Biology, Ectodysplasins, medicine.disease, Mice, Inbred C57BL, 030104 developmental biology, HEK293 Cells, 030220 oncology & carcinogenesis, Mutation, Cancer research, Suppressor, Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9ec8327210edd71707141d0bc94471Test
https://u-bourgogne.hal.science/hal-01960268Test