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المؤلفون: Violeta Fodina, Linda Gailite, Inta Vasiljeva, Baiba Alksere, Liga Kangare, Juris Erenpreiss, Dace Enkure, Aigars Dzalbs, Liene Nikitina-Zake, Arita Blumberga, Liene Kornejeva, Ieva Grinfelde, Una Conka, Santa Andersone, Ilze Radovica-Spalvina
المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100796-(2021)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Ectodermal dysplasia, Medicine (General), QH301-705.5, Case Report, Biology, Endocrinology, R5-920, Recessive inheritance, Genetics, medicine, Hypohidrotic ectodermal dysplasia, Allele, Biology (General), Molecular Biology, X-linked recessive inheritance, Genetic testing, medicine.diagnostic_test, PGT-M, XLHED, medicine.disease, Family member, Christ-Siemens-Touraine syndrome, Ectodysplasin A, EDA, X-linked recessive disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d18319dc3a8de81bcf059e41cefd614eTest
http://www.sciencedirect.com/science/article/pii/S2214426921000902Test -
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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 -
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المؤلفون: Jennifer Arndt, Stefka Ruseva, Marion Hewicker-Trautwein, Ottmar Distl, Michael Fehr, Danae Vasiliadis, Daniela Klotz, Julia Metzger
المصدر: G3: Genes, Genomes, Genetics, Vol 9, Iss 1, Pp 95-104 (2019)
مصطلحات موضوعية: 0106 biological sciences, Litter (animal), Coat, medicine.medical_specialty, Ectodermal dysplasia, ectodysplasin-A, canine, QH426-470, 01 natural sciences, Germline, 03 medical and health sciences, symbols.namesake, X-linked inheritance, Puppy, biology.animal, medicine, Genetics, Hypohidrotic ectodermal dysplasia, Molecular Biology, Genetics (clinical), X-linked recessive inheritance, 030304 developmental biology, Sanger sequencing, 0303 health sciences, Early embryonic stage, biology, medicine.disease, Dermatology, eye diseases, ectodermal dysplasia, Malformed teeth, whole-genome sequencing, symbols, Ectodysplasin A, 010606 plant biology & botany
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7190ae7f5cffb5747cec0f86f6ebb114Test
http://g3journal.org/lookup/doi/10.1534/g3.118.200814Test -
84دورية أكاديمية
المساهمون: Department of Oral and Maxillofacial Diseases, Suu- ja leukakirurgian yksikkö
مصطلحات موضوعية: HYPOHIDROTIC ECTODERMAL DYSPLASIA, HAIR FOLLICLE INDUCTION, ECTODYSPLASIN-A, NONSENSE MUTATION, MISSENSE MUTATION, PERMANENT TEETH, DENTAL AGENESIS, PAX9 GENE, OLIGODONTIA, HYPODONTIA, 313 Dentistry, 1184 Genetics, developmental biology, physiology
وصف الملف: application/pdf
العلاقة: Funding provided by Helsinki University Central Hospital EVO grants TYH-2010301 and TYH-2012201, www.hus.fi and Finnish Dental Society Apollonia, www.apollonia.fi. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.; Arte , S , Parmanen , S , Pirinen , S , Alaluusua , S & Nieminen , P T 2013 , ' Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations ' , PLoS One , vol. 8 , no. 8 , pp. Article Number: e73705 . https://doi.org/10.1371/journal.pone.0073705Test; 84882808842; 057967e1-f0e0-4fa7-9d3e-7af5ea08913e; http://hdl.handle.net/10138/164341Test; 000324470700065
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85دورية أكاديمية
المؤلفون: Loehr, John, Leinonen, Tuomas, Herczeg, Gabor, O'Hara, Robert B., Merilä, Juha
المساهمون: Lammi Biological Station, Biosciences, Biological stations, Department of Mathematics and Statistics, Ecological Genetics Research Unit
مصطلحات موضوعية: FLUCTUATING ASYMMETRY, DEVELOPMENTAL STABILITY, GASTEROSTEUS-ACULEATUS, DROSOPHILA-MELANOGASTER, DIRECTIONAL ASYMMETRY, ECTODYSPLASIN ALLELES, CONSERVATION BIOLOGY, MERISTIC CHARACTERS, MEASUREMENT ERROR, SEXUAL SELECTION, 1181 Ecology, evolutionary biology
وصف الملف: application/pdf
العلاقة: Loehr , J , Leinonen , T , Herczeg , G , O'Hara , R B & Merilä , J 2012 , ' Heritability of Asymmetry and Lateral Plate Number in the Threespine Stickleback ' , PLoS One , vol. 7 , no. 7 , pp. e39843 . https://doi.org/10.1371/journal.pone.0039843Test; ORCID: /0000-0001-9614-0072/work/29056213; 84863653796; 5810df75-21b6-4cbd-ba34-f415ff4a4bea; http://hdl.handle.net/10138/165806Test; 000306461800021
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المؤلفون: Poonkiat Suchonwanit, Kanchana Leerunyakul
المصدر: Clinical, Cosmetic and Investigational Dermatology. 13:309-318
مصطلحات موضوعية: Pathology, medicine.medical_specialty, integumentary system, business.industry, Dermatology, medicine.disease, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Lupus Panniculitis, Hair loss, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Hair Disorder, Scalp, otorhinolaryngologic diseases, medicine, Ectodysplasin A receptor, sense organs, Large diameter, business, Cuticle (hair)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::780ceda92635d2c19b3b227cccbe7272Test
https://doi.org/10.2147/ccid.s247390Test -
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المؤلفون: Dorothy K. Grange, Angus John Clarke, Ophir D. Klein, Iris Körber, Christine Bodemer, Silvia Maitz, Kenneth M. Huttner, Neil Kirby, Caroline Durand, Florian Faschingbauer, Patrick Morhart, Holm Schneider
المصدر: British Journal of Clinical Pharmacology
British journal of clinical pharmacology, vol 86, iss 10مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, drug safety, Research Subjects, Recombinant Fusion Proteins, Physiology, Disease, immunogenicity, 030226 pharmacology & pharmacy, 03 medical and health sciences, 0302 clinical medicine, Immune system, Pregnancy, protein replacement, medicine, Animals, Humans, Pharmacology (medical), prenatal therapy, 030212 general & internal medicine, Hypohidrotic ectodermal dysplasia, Pharmacology & Pharmacy, ddc:610, Pharmacology, biology, business.industry, Immunogenicity, Infant, Newborn, Infant, Pharmacology and Pharmaceutical Sciences, Original Articles, Ectodysplasins, medicine.disease, Immunoglobulin Fc Fragments, ectodermal dysplasia, Clinical trial, In utero, ectodysplasin A, biology.protein, Female, Original Article, Antibody, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1209e48b7fae4794bca20633f033eeeTest
http://europepmc.org/articles/PMC7495278Test -
88صورة
المؤلفون: Sare Gökdere, Holm Schneider, Ute Hehr, Laure Willen, Pascal Schneider, Sigrun Maier-Wohlfart
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, X-linked hypohidrotic ectodermal dysplasia, ectodysplasin A, variants of uncertain significance, in silico analysis, functional studies, serum EDA concentration, genotype-phenotype correlation
الإتاحة: https://doi.org/10.3389/fgene.2022.934395.s001Test
https://figshare.com/articles/figure/Image1_Functional_and_clinical_analysis_of_five_EDA_variants_associated_with_ectodermal_dysplasia_but_with_a_hard-to-predict_significance_TIF/20328405Test -
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المؤلفون: Sare Gökdere, Holm Schneider, Ute Hehr, Laure Willen, Pascal Schneider, Sigrun Maier-Wohlfart
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, X-linked hypohidrotic ectodermal dysplasia, ectodysplasin A, variants of uncertain significance, in silico analysis, functional studies, serum EDA concentration, genotype-phenotype correlation
الإتاحة: https://doi.org/10.3389/fgene.2022.934395.s002Test
https://figshare.com/articles/dataset/Table1_Functional_and_clinical_analysis_of_five_EDA_variants_associated_with_ectodermal_dysplasia_but_with_a_hard-to-predict_significance_DOCX/20328408Test -
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المؤلفون: Neda Mokhberian, Ziba Morovvati, Simindokht Salavitabar, Marzieh Rahbaran, Maryam Hassani Doabsari, Saeid Morovvati
المصدر: Cellular & Molecular Biology Letters, Vol 24, Iss 1, Pp 1-8 (2019)
Cellular & Molecular Biology Lettersمصطلحات موضوعية: 0301 basic medicine, Male, Dysplasia, Biochemistry, Gene, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Research Letter, Humans, Hypohidrotic ectodermal dysplasia, lcsh:QH573-671, Child, Frameshift Mutation, Molecular Biology, Sanger sequencing, Genetics, EDARADD, Ectodermal Dysplasia 1, Anhidrotic, business.industry, lcsh:Cytology, Cell Biology, Ectodermal, Ectodysplasins, medicine.disease, Pedigree, Hypohidrotic, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), symbols, Ectodysplasin A, Female, business, EDA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23157d9bb2c322881c968071a3be73d8Test
http://link.springer.com/article/10.1186/s11658-019-0174-9Test
