Výsledky vyhledávání - "Ectodermal Dysplasia pathology"

Generation and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia.

Autoři: Kowalczyk-Quintas, C. Willen, L. Dang, A.T. a další

Témata: Animals, Antibodies, Monoclonal, Murine-Derived/genetics, Murine-Derived/immunology, Murine-Derived/toxicity, Neutralizing/genetics, Neutralizing/immunology, Neutralizing/toxicity, Autoantibodies/genetics, Autoantibodies/immunology, Autoantibodies/toxicity, Base Sequence, Cattle, Cell Line, Dogs, Ectodermal Dysplasia/chemically induced, Ectodermal Dysplasia/genetics, Ectodermal Dysplasia/immunology, Ectodermal Dysplasia/metabolism, Ectodermal Dysplasia/pathology, Ectodysplasins/antagonists & inhibitors, Ectodysplasins/genetics, Ectodysplasins/immunology, Ectodysplasins/metabolism, Female, Humans, Male, Mice, Mutant Strains

Popis souboru: application/pdf

Relation: Journal of Biological Chemistry; https://iris.unil.ch/handle/iris/56163; serval:BIB_128AA3C5C25E; 000331403800038

Dostupnost: https://iris.unil.ch/handle/iris/56163
https://doi.org/10.1074/jbc.M113.535740

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Autoři: Erica E. Davis Miriam Schmidts Christine Bole-Feysot a další

Přispěvatelé: Erica E. Davis Miriam Schmidts Christine Bole-Feysot a další

Zdroj: Halbritter, J, Bizet, A A, Schmidts, M, Porath, J D, Braun, D A, Gee, H Y, McInerney-Leo, A M, Krug, P, Filhol, E, Davis, E E, Airik, R, Czarnecki, P G, Lehman, A M, Trnka, P, Nitschké, P, Bole-Feysot, C, Schueler, M, Knebelmann, B, Burtey, S, Szabó, A J, Tory, K, Leo, P J, Gardiner, B, McKenzie, F A, Zankl, A, Brown, M A, Hartley, J L, Maher, E R, Li, C, Leroux, M R, Scambler, P J, Zhan, S H, Jones, S J, Kayserili, H, Tuysuz, B, Moorani, K N, Constantinescu, A, Krantz, I D, Kaplan, B S, Shah, J V, Hurd, T W, Doherty, D, Katsanis, N, Duncan, E L, Otto, E A, Beales, P L, Mitchison, H M & Saunier, S & Hildebrandt, F 2013, ' Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans ', American Journal of Human Genetics, vol. 93, no. 5, pp. 915-25 . https://doi.org/10.1016/j.ajhg.2013.09.012
American Journal of Human Genetics

Témata: Cytoplasmic Dyneins, Male, 0301 basic medicine, Rib-Polydactyly Syndrome, frameshift mutation, Retinitis Pigmentosa/pathology, mucociliary transport, Intraflagellar Transport Protein, Cerebellar Ataxia/genetics, Dyneins/genetics, jeune syndrome, Ectodermal Dysplasia, Genetics(clinical), exon, gene mutation, European Continental Ancestry Group/genetics, genetic conservation, Bone and Bones/pathology, Zebrafish, cellular distribution, 2. Zero hunger, 0303 health sciences, allele, article, Intracellular Signaling Peptides and Proteins, Cerebellar Ataxia/pathology, Kidney Diseases, Cystic, Ectodermal Dysplasia/genetics, 3. Good health, Cytoplasmic Dyneins/genetics, Van-Creveld-Syndrome, molecular motor, Intracellular Signaling Peptides and Proteins/metabolism, Phenotype, aplasia, Ellis-Van Creveld Syndrome/genetics, Gene Knockdown Techniques, Cystic/genetics, Kidney Diseases, Female, Retinitis Pigmentosa, Ellis-Van Creveld Syndrome/pathology, Asian Continental Ancestry Group, 2716 Genetics (clinical), intron, Cerebellar Ataxia, phenotype, Ellis-Van Creveld Syndrome, Retinitis Pigmentosa/genetics, European Continental Ancestry Group, Molecular Sequence Data, Asphyxiating Thoracic Dystrophy, Bone and Bones/metabolism, Bone and Bones, Zebrafish/genetics, Cystic, Craniosynostoses, 03 medical and health sciences, 1311 Genetics, Genetic, Asian People, Joubert syndrome, Cytoplasmic Dyneins/metabolism, Genetics, Animals, Humans, Asian Continental Ancestry Group/genetics, eukaryotic flagellum, human, Amino Acid Sequence, Alleles, Craniosynostoses/genetics, hypoplasia, Danio rerio, nonhuman, gene interaction, missense mutation, Dyneins, Epistasis, Genetic, excision repair, Fibroblasts, Fibroblasts/pathology, intraflagellar transport B, Bone and Bones/abnormalities, Ectodermal Dysplasia/pathology, Cystic/pathology, Mutation, nephronophthisis, Epistasis, Dyneins/metabolism, Craniosynostoses/pathology, Intracellular Signaling Peptides and Proteins/genetics

Popis souboru: application/pdf

Přístupová URL adresa: http://www.cell.com/article/S0002929713004527/pdf
https://pubmed.ncbi.nlm.nih.gov/24140113
https://www.research.ed.ac.uk/portal/files/11294950/Defects_in_the_IFT_B_Component_IFT172_Cause_Jeune_and_Mainzer_Saldino_Syndromes_in_Humans.pdf
https://espace.library.uq.edu.au/view/UQ:319462
https://www.cell.com/article/S0002929713004527/abstract
https://www.sciencedirect.com/science/article/pii/S0002929713004527
https://doi.org/10.1016/j.ajhg.2013.09.012
https://www.pure.ed.ac.uk/ws/files/11294950/Defects_in_the_IFT_B_Component_IFT172_Cause_Jeune_and_Mainzer_Saldino_Syndromes_in_Humans.pdf
https://hdl.handle.net/20.500.11820/0ef852bf-ca67-4025-8707-787abc2ed2c4
https://discovery-pp.ucl.ac.uk/id/eprint/1418407/

Cutis aplasia congenita / Cutis aplasia congenita

Autoři: Kanijo, Bertha Pedersen, Pernille

Zdroj: Ugeskrift for Laeger. 177(19):1830

Aplasia cutis congenita in a premature infant / Aplasia cutis congenita hos et praematurt barn

Autoři: Boje Rasmussen, H H Vissing, S Skov, M

Zdroj: Ugeskrift for Laeger. 158(24):3472

Mutations in NOTCH1 cause Adams-Oliver Syndrome

Autoři: Stittrich, Anna Barbara Lehman, Anna M. Bodian, Dale L. a další

Zdroj: Pediatrics Faculty Publications

Témata: Abnormalities, Multiple--genetics, Ectodermal Dysplasia--genetics, Ectodermal Dysplasia--pathology, Limb Deformities, Congenital--genetics, Congenital--pathology, Mutation--genetics, Receptor, Notch1--genetics, Scalp Dermatoses--congenital, Pediatrics

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/886; http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=25132448

Dostupnost: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/886
http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=25132448

[Pathological anatomy of chondro-ectodermal dysplasia of Ellis van Creveld].

Transliterovaný název: Pathologische Anatomie der chondro-ektodermalen Dysplasie Ellis-van Creveld.

Autoři: UEHLINGER E

Zdroj: Schweizerische Zeitschrift fur Pathologie und Bakteriologie. Revue suisse de pathologie et de bacteriologie [Schweiz Z Pathol Bakteriol] 1957; Vol. 20 (6), pp. 754-66.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Karger Country of Publication: Switzerland NLM ID: 20630440R Publication Model: Print Cited Medium: Print NLM ISO Abbreviation: Schweiz Z Pathol Bakteriol Subsets: OLDMEDLINE

Výrazy ze slovníku MeSH: Ectodermal Dysplasia/*pathology, Humans

[Pathology of dyskeratosis congenita Cole-Rauschkolb-Toomay].

Transliterovaný název: Ein Beitrag zur Pathologie der Dyskeratosis congenita Cole-Rauschkolb-Toomay.

Autoři: PASTINSZKY I VANKOS J RACZ I

Zdroj: Dermatologische Wochenschrift [Dermatol Wochenschr] 1957 Jun 08; Vol. 135 (23), pp. 587-93.

Způsob vydávání: Journal Article

Informace o časopise: Publisher: Barth Country of Publication: Germany NLM ID: 0232054 Publication Model: Print Cited Medium: Print ISSN: 0366-8940 (Print) Linking ISSN: 03668940 NLM ISO Abbreviation: Dermatol Wochenschr Subsets: OLDMEDLINE

Výrazy ze slovníku MeSH: Dyskeratosis Congenita*, Ectodermal Dysplasia/*pathology, Humans