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المؤلفون: Holm Schneider, Christine Schweikl, Florian Faschingbauer, Smail Hadj-Rabia, Pascal Schneider
المصدر: International journal of molecular sciences, vol. 24, no. 8, pp. 7155
International Journal of Molecular Sciences; Volume 24; Issue 8; Pages: 7155مصطلحات موضوعية: Inorganic Chemistry, Organic Chemistry, ectodermal dysplasia, ectodysplasin A, AlphaLisa, protein replacement, sweat glands, tooth development, prenatal therapy, General Medicine, ddc:610, Physical and Theoretical Chemistry, Molecular Biology, Child, Pregnancy, Female, Infant, Humans, Male, Child, Preschool, Ectodermal Dysplasia 1, Anhidrotic/genetics, Ectodermal Dysplasia 1, Anhidrotic/therapy, Ectodysplasins/genetics, Ectodermal Dysplasia/genetics, Sweating, Hair, Recombinant Proteins, Spectroscopy, Catalysis, Computer Science Applications
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6935ca73489ed826b8ed8cf19bab4c7Test
https://opus4.kobv.de/opus4-fau/files/22840/ijms-24-07155-v2.pdfTest -
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المؤلفون: Prashant Ranjan, Parimal Das
المصدر: Journal of Cellular Biochemistry. 123:431-449
مصطلحات موضوعية: Ectodermal Dysplasia 1, Anhidrotic, In silico, Point mutation, Mutant, Mutation, Missense, Computational Biology, Cell Biology, Computational biology, Ectodysplasins, Biology, medicine.disease, Biochemistry, Phenotype, Molecular Docking Simulation, Structure-Activity Relationship, Amino Acid Substitution, medicine, Humans, Missense mutation, Ectodysplasin A, Hypohidrotic ectodermal dysplasia, Molecular Biology, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72964c5da4046256757885d68c1c99dbTest
https://doi.org/10.1002/jcb.30186Test -
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المصدر: International Journal of Molecular Sciences; Volume 23; Issue 20; Pages: 12189
مصطلحات موضوعية: Adenosine Triphosphatases, Ectodermal Dysplasia 1, Anhidrotic, bone, ectodysplasin A1, ectodermal dysplasia, osteopetrosis, osteoclast differentiation, NF-κB, NFAT, Macrophage Colony-Stimulating Factor, Cathepsin K, Skull, Organic Chemistry, NF-kappa B, Osteoclasts, General Medicine, Ectodysplasins, Catalysis, Computer Science Applications, Inorganic Chemistry, Mice, Matrix Metalloproteinase 9, Osteopetrosis, Animals, ddc:610, Protons, Physical and Theoretical Chemistry, Luciferases, Molecular Biology, Spectroscopy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7097f41f6dc0ca12e86888493fa91f7dTest
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المؤلفون: Ruihan Yang, Yilan Mei, Yuhan Jiang, Huiling Li, Ruixi Zhao, Jian Sima, Yuyuan Yao
المصدر: International journal of molecular sciences. 23(16)
مصطلحات موضوعية: Mammals, Ectodermal Dysplasia 1, Anhidrotic, Organic Chemistry, General Medicine, Ectodysplasins, Catalysis, Computer Science Applications, Inorganic Chemistry, Diabetes Mellitus, Type 2, Animals, Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy, Signal Transduction, Skin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1089e0e8a7f714daccb8a4669f99f7eTest
https://pubmed.ncbi.nlm.nih.gov/36012178Test -
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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 -
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المؤلفون: Yiqun Wu, Cai-Ling Jiang, Yu Kang, Wei Huang, Yihan Shen, Feng Wang
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)مصطلحات موضوعية: Prenatal diagnosis, QH426-470, Biology, Gene mutation, hypohidrotic ectodermal dysplasia, medicine.disease_cause, whole exome sequencing, symbols.namesake, Pregnancy, Genetics, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, Molecular Biology, Genetics (clinical), Exome sequencing, Sanger sequencing, Mutation, Ectodermal Dysplasia 1, Anhidrotic, prenatal diagnosis, Original Articles, Ectodysplasins, medicine.disease, Molecular biology, Pedigree, ectodysplasin A, symbols, Female, Original Article, Ectodysplasin A, novel mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5cc62a35f670c66240c23f674c3b7f9Test
https://doi.org/10.1002/mgg3.1824Test -
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المؤلفون: Xu Wang, Lingqiang Meng, Wenjing Chen, Qingqing Du, Zhiyu Zhang, Shuo Yuan, Dongru Yang, Jiabao Ren, Wenjing Shen, Jiuping Bai, Guozhong Zhang, Shushen Zheng, Hong Qu
المصدر: Medicine
مصطلحات موضوعية: Male, Ectodermal dysplasia, China, Mutant, Mutation, Missense, Observational Study, medicine.disease_cause, hypohidrotic ectodermal dysplasia, Polymerase Chain Reaction, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, tooth abnormalities, Missense mutation, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, Hypohidrotic ectodermal dysplasia, Luciferases, Gene, Sanger sequencing, Mutation, Ectodermal Dysplasia 1, Anhidrotic, business.industry, missense mutation, General Medicine, Ectodysplasins, medicine.disease, Molecular biology, Pedigree, genomic DNA, 030220 oncology & carcinogenesis, Child, Preschool, ectodysplasin A, symbols, Female, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b42d9b4f87a35a6b0920a5a805b0ae7Test
http://europepmc.org/articles/PMC7220389Test -
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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 -
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المؤلفون: Desheng Liang, Yong Zeng, Lijun Ye, Yuanchang Zhu, Tonghua Wu, Guan-Gui Li, Biao Yin
المصدر: Clinica chimica acta; international journal of clinical chemistry. 475
مصطلحات موضوعية: 0301 basic medicine, Adult, Genetic Markers, Male, Clinical Biochemistry, Gene Expression, Prenatal diagnosis, Fertilization in Vitro, Biology, Preimplantation genetic diagnosis, Biochemistry, 03 medical and health sciences, symbols.namesake, Chromosome Breakpoints, 0302 clinical medicine, Pregnancy, medicine, Humans, Hypohidrotic ectodermal dysplasia, Embryo Implantation, X chromosome, Preimplantation Diagnosis, Chromosomal inversion, Sanger sequencing, Genetics, Chromosomes, Human, X, 030219 obstetrics & reproductive medicine, Ectodermal Dysplasia 1, Anhidrotic, Base Sequence, Biochemistry (medical), Breakpoint, Multiple displacement amplification, Infant, Newborn, High-Throughput Nucleotide Sequencing, General Medicine, Exons, Ectodysplasins, medicine.disease, Molecular biology, Pedigree, 030104 developmental biology, Blastocyst, Haplotypes, Karyotyping, Chromosome Inversion, symbols, Female, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8035d92086888eae85e039d89df7f3b5Test
https://pubmed.ncbi.nlm.nih.gov/29037841Test -
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المؤلفون: Efraín Garrido-Guerrero, Adolfo René Méndez-Cruz, Glustein Pozo-Molina, María Isabel Mendoza-Ramos, Julia Reyes-Reali, Rafael Villalobos-Molina
المصدر: International Journal of Dermatology. 54:790-794
مصطلحات موضوعية: Male, Heterozygote, Population, Mutation, Missense, Dermatology, Biology, Exon, Keratoderma, Palmoplantar, medicine, Humans, Missense mutation, Hypohidrotic ectodermal dysplasia, education, Gene, Genetics, education.field_of_study, Ectodermal Dysplasia 1, Anhidrotic, Genetic disorder, Exons, Ectodysplasins, Toes, medicine.disease, Phenotype, Molecular biology, Pedigree, Transmembrane domain, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15c944560ed91550334cb057b2ce263fTest
https://doi.org/10.1111/ijd.12775Test