Výsledky vyhledávání - "Ectodermal Dysplasia 1, Anhidrotic genetics"

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

Autoři: Laura Körber Holm Schneider Nicole Fleischer a další

Zdroj: Orphanet J Rare Dis
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

Témata: 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

Popis souboru: application/pdf

Přístupová URL adresa: 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

A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle

Autoři: Sina Reinartz Christine Weiß Maike Heppelmann a další

Zdroj: Genes (Basel)
Genes, vol. 15, no. 1, pp. 8

Témata: Male, 2. Zero hunger, Ectodermal Dysplasia 1, Anhidrotic, Limb Deformities, Congenital, Mutation, Missense, Hypotrichosis, Article, 3. Good health, Humans, Dogs, Cattle, Animals, Mice, Ectodermal Dysplasia 1, Anhidrotic/genetics, Ectodermal Dysplasia/genetics, Mutation, Fleckvieh, collagen triple helix repeat domain, ectodysplasin A, missense mutation, Ectodermal Dysplasia

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38275590
https://serval.unil.ch/notice/serval:BIB_B9CC7B1AD0C8
https://serval.unil.ch/resource/serval:BIB_B9CC7B1AD0C8.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B9CC7B1AD0C85

A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement

Autoři: Holm Schneider Christine Schweikl Florian Faschingbauer a další

Zdroj: Int J Mol Sci
International Journal of Molecular Sciences; Volume 24; Issue 8; Pages: 7155
International journal of molecular sciences, vol. 24, no. 8, pp. 7155

Témata: Male, Ectodermal Dysplasia 1, Anhidrotic, ectodermal dysplasia, ectodysplasin A, AlphaLisa, protein replacement, sweat glands, tooth development, prenatal therapy, Infant, Sweating, Ectodysplasins, Child, Pregnancy, Female, Humans, Child, Preschool, Ectodermal Dysplasia 1, Anhidrotic/genetics, Ectodermal Dysplasia 1, Anhidrotic/therapy, Ectodysplasins/genetics, Ectodermal Dysplasia/genetics, Hair, Recombinant Proteins, Article, 3. Good health, Ectodermal Dysplasia, ddc:610

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37108325
https://serval.unil.ch/resource/serval:BIB_55995EB323AC.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_55995EB323AC
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_55995EB323AC9
https://opus4.kobv.de/opus4-fau/files/22840/ijms-24-07155-v2.pdf

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia

Autoři: Schneider, H. Faschingbauer, F. Schuepbach-Mallepell, S. a další

Zdroj: The New England Journal of Medicine, vol. 378, no. 17, pp. 1604-1610

Témata: Adult, Male, Fetal Therapies, Ectodermal Dysplasia 1, Anhidrotic, Recombinant Fusion Proteins, Amniotic Fluid, Antigens, CD/therapeutic use, Ectodermal Dysplasia 1, Anhidrotic/diagnostic imaging, Ectodermal Dysplasia 1, Anhidrotic/genetics, Ectodermal Dysplasia 1, Anhidrotic/therapy, Ectodysplasins/deficiency, Ectodysplasins/genetics, Ectodysplasins/therapeutic use, Female, Fetal Therapies/methods, Genetic Therapy/methods, Humans, Injections, Mutation, Pregnancy, Prenatal Diagnosis, Radiography, Receptors, Fc/therapeutic use, Recombinant Proteins/therapeutic use, Sweat Glands/abnormalities, Sweat Glands/diagnostic imaging, Tooth Germ/diagnostic imaging, Genetic Therapy, Receptors, Fc, Ectodysplasins, Recombinant Proteins, Immunoglobulin Fc Fragments, Sweat Glands, 3. Good health, Antigens, CD

Popis souboru: application/pdf

Přístupová URL adresa: https://serval.unil.ch/resource/serval:BIB_7D5E9C7A775B.P001/REF.pdf
https://pubmed.ncbi.nlm.nih.gov/29694819
https://journals.lww.com/10.1097/01.ogx.0000546161.16652.53
https://europepmc.org/article/MED/29694819
https://www.nejm.org/doi/pdf/10.1056/NEJMoa1714322
http://www.ncbi.nlm.nih.gov/pubmed/29694819
https://doi.org/10.1056/NEJMoa1714322
https://serval.unil.ch/resource/serval:BIB_7D5E9C7A775B.P001/REF.pdf
https://www.nejm.org/doi/full/10.1056/NEJMoa1714322
https://serval.unil.ch/resource/serval:BIB_7D5E9C7A775B.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7D5E9C7A775B4
https://serval.unil.ch/notice/serval:BIB_7D5E9C7A775B