المؤلفون: Hennig, Verena, Schuh, Wolfgang, Neubert, Antje, Mielenz, Dirk, Jäck, Hans-Martin, Schneider, Holm

المصدر: http://lobid.org/resources/99370675069506441Test#!, 16(1):373.

مصطلحات موضوعية: Spike Glycoprotein, Coronavirus [MeSH], COVID-19, Adolescent [MeSH], Alopecia [MeSH], Adult [MeSH], Hair loss, Humans [MeSH], Longitudinal Studies [MeSH], Fatigue Syndrome, Chronic [MeSH], Middle Aged [MeSH], Rare skin diseases, Ectodermal Dysplasia 1, Anhidrotic [MeSH], Research, COVID-19 [MeSH], Young Adult [MeSH], Hypohidrotic ectodermal dysplasia, Chronic fatigue, Child [MeSH], SARS-CoV-2 [MeSH], SARS-CoV-2

العلاقة: https://repository.publisso.de/resource/frl:6464711Test; https://doi.org/10.1186/s13023-021-02011-zTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414461Test/

الإتاحة: https://doi.org/10.1186/s13023-021-02011-zTest
https://repository.publisso.de/resource/frl:6464711Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414461Test/

المؤلفون: Hernández-González, Daniel, Orozco-Páez, Jennifer

المصدر: Journal of Oral Research; Vol. 10 No. 4 (2021): July-August ; 1-6 ; Journal of Oral Research; Vol. 10 Núm. 4 (2021): Julio-Agosto ; Journal of Oral Research; v. 10 n. 4 (2021): July-August ; 0719-2479 ; 0719-2460

مصطلحات موضوعية: displasia ectodérmica, Christ-Siemens-Touraine, anodoncia, prótesis dental de soporte implantado, implantes dentales, diseño asistido por computadora, ectodermal dysplasia 1, anhidrotic, anodontia, dental prosthesis, implant-supported, dental implants, computeraided design

وصف الملف: application/pdf

العلاقة: https://revistas.udec.cl/index.php/journal_of_oral_research/article/view/7059/6383Test; https://revistas.udec.cl/index.php/journal_of_oral_research/article/view/7059Test

الإتاحة: https://doi.org/10.17126/%xTest
https://revistas.udec.cl/index.php/journal_of_oral_research/article/view/7059Test

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: 7155

مصطلحات 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

المؤلفون: Jones, Kyle B, Goodwin, Alice F, Landan, Maya, Seidel, Kerstin, Tran, Dong‐Kha, Hogue, Jacob, Chavez, Miquella, Fete, Mary, Yu, Wenli, Hussein, Tarek, Johnson, Ramsey, Huttner, Kenneth, Jheon, Andrew H, Klein, Ophir D

المصدر: American Journal of Medical Genetics Part A. 161(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Dentistry, Congenital Structural Anomalies, Genetics, Pediatric, Adolescent, Adult, Case-Control Studies, Child, Dermatology, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasins, Hair, Humans, Iontophoresis, Male, Microscopy, Confocal, Phenotype, Pilocarpine, Reproducibility of Results, Surveys and Questionnaires, Sweat Glands, Young Adult, X-linked hypohidrotic ectodermal dysplasia, ectodysplasin, hair, sweat gland, terminal hair, confocal imaging, pilocarpine iontophoresis, phototrichogram, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/66q517jdTest

المؤلفون: Del-Pozo, J., MacIntyre, N., Azar, A., Headon, D., Schneider, P., Cheeseman, M.

المصدر: Disease models & mechanisms, vol. 12, no. 4

مصطلحات موضوعية: Animals, Antibodies/pharmacology, Disease Models, Animal, Ear, Middle/metabolism, Middle/pathology, Ectodermal Dysplasia 1, Anhidrotic/metabolism, Anhidrotic/pathology, Ectodysplasins/metabolism, Female, Hyalin/metabolism, Male, Mice, Nasopharyngitis/complications, Nasopharyngitis/pathology, Nasopharynx/drug effects, Nasopharynx/pathology, Nose/pathology, Otitis Media/complications, Otitis Media/pathology, Phenotype, Rats, Receptors, Ectodysplasin/agonists, Ectodysplasin/metabolism, Rhinitis/complications, Signal Transduction, Auditory-tube submucosal gland

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31028034; info:eu-repo/semantics/altIdentifier/eissn/1754-8411; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4103E7371D490; https://serval.unil.ch/notice/serval:BIB_4103E7371D49Test; urn:issn:1754-8403; https://serval.unil.ch/resource/serval:BIB_4103E7371D49.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4103E7371D490Test

الإتاحة: https://doi.org/10.1242/dmm.037804Test
https://serval.unil.ch/notice/serval:BIB_4103E7371D49Test
https://serval.unil.ch/resource/serval:BIB_4103E7371D49.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4103E7371D490Test

المؤلفون: Nikolay N. Murashkin, Alexander I. Materikin, Eduard T. Ambarchian, Roman V. Epishev, Leonid A. Opryatin, Roman A. Ivanov, Daria S. Kukoleva, Daria G. Kuptsova, Alexander A. Pushkov, Marina Yu. Pomazanova, Yana V. Kozyr, Н. Н. Мурашкин, А. И. Материкин, Э. Т. Амбарчян, Р. В. Епишев, Л. А. Опрятин, Р. А. Иванов, Д. С. Куколева, Д. Г. Купцова, А. А. Пушков, М. Ю. Помазанова, Я. В. Козырь

المساهمون: Not specified, Не указан

المصدر: Current Pediatrics; Том 19, № 6 (2020); 483-489 ; Вопросы современной педиатрии; Том 19, № 6 (2020); 483-489 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: молекулярно-генетическое исследование, multimorbidity, psoriasis, congenital anhidrotic (hypohydrotic) ectodermal dysplasia, ichthyosis, molecular genetic testing, мультиморбидность, псориаз, врожденная ангидротическая (гипогидротическая) эктодермальная дисплазия, ихтиоз

وصف الملف: application/pdf

العلاقة: https://vsp.spr-journal.ru/jour/article/view/2510/987Test; Fortin M., Bravo G., Hudon C., et al. Prevalence of multimorbidity among adults seen in family practice. Ann Fam Med. 2005;3(3): 223–228. doi:10.1370/afm.272.; Barabasi AL, Gulbahce N, Loscalzo J. Network medicine: a network-based approach to human disease. Nat Rev Genet. 2011;12(1):56–68. doi:10.1038/nrg2918.; Пантелеева Г.А., Суздальцева И.В., Гончаренко Т.С. Клинические примеры редкого сочетания дерматозов // Клиническая дерматология и венерология. — 2011. — № 4. — С. 21–25.; Рыжкова О.П., Кардымон О.Л., Прохорчук Е.Б. и др. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2) // Медицинская генетика. — 2019. — Т. 18. — № 2. — С. 3–23. doi:10.25557/2073-7998.2019.02.3-23.; Лазебник Л.Б. Полиморбидность и старение // Новости медицины и фармации. — 2007. — № 1(205).; Smith SM, Wallace E, O’Dowd T, Fortin M. Interventions for improving outcomes in patients with multimorbidity in primary care and community settings. Cochrane Database Syst Rev. 2016; 14(3):CD006560. doi:10.1002/14651858.CD006560.pub3.; Glynn LG, Jose MV, Pamela H, et al. The prevalence of multimorbidity in primary care and its effect on health care utilization and cost. Fam Pract. 2011;28(5):516–523. doi:10.1093/fampra/cmr013.; Sambamoorthi U, Tan X, Deb A. Multiple chronic conditions and healthcare costs amongadults. Expert Rev Pharmacoecon Outcomes Res. 2015;15(5):823–832. doi:10.1586/14737167.2015.1091730.; Ren Z, Hsu DY, Brieva J, et al. Hospitalization, inpatient burden and comorbidities associated with bullous pemphigoid in the U.S.A. Br J Dermatol. 2017;176(1):87–99. doi:10.1111/bjd.14821.; Santolini M, Barabasi AL. Predicting perturbation patterns from the topology of biological networks. Proc Natl Acad Sci USA. 2018;115(27):E6375–E6383. doi:10.1073/pnas.1720589115.; Kitsak M, Sharma A, Menche J, et al. Tissue Specificity of Human Disease Module. Sci Rep. 2016;6:35241. doi:10.1038/srep35241.; Lage K, Hansen NT, Karlberg EO, et al. A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes. Proc Natl Acad Sci USA. 2008;105(52): 20870–20875. doi:10.1073/pnas.0810772105.; Barshir R, Shwartz O, Smoly IY, Yeger-Lotem E. Comparative analysis of human tissue interactomes reveals factors leading to tissue-specific manifestation of hereditary diseases. PLoS Comput Biol. 2014;10(6):e1003632. doi:10.1371/journal.pcbi.1003632.; Pandey AK, Lu L, Wang X, et al. Functionally enigmatic genes: a case study of the brain ignorome. PLoS One. 2014;9(2):e88889. doi:10.1371/journal.pone.0088889.; Greene CS, Krishnan A, Wong AK, et al. Understanding multicellular function and disease with human tissue-specific networks. Nat Genet. 2015;47(6):569–576. doi:10.1038/ng.3259.; Eytan O, Sarig O, Sprecher E, van Steensel MAM. Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14. Br J Dermatol. 2014;171(2):420–422. doi:10.1111/bjd.12952.; S. Philipp A, Menter AF, Nikkels K, et al. Ustekinumab for the treatment of moderate-to-severe plaque psoriasis in pediatric patients ( 6 to < 12 years of age): efficacy, safety, pharmacokinetic, and biomarker results from the open-label CADMUS Jr study. Br J Dermatol. 2020 Mar 16. Online ahead of print. doi:10.1111/bjd.19018.; https://vsp.spr-journal.ru/jour/article/view/2510Test

الإتاحة: https://doi.org/10.15690/vsp.v19i6.2155Test
https://doi.org/10.1370/afm.272Test
https://doi.org/10.1038/nrg2918Test
https://doi.org/10.25557/2073-7998.2019.02.3-23Test
https://doi.org/10.1002/14651858.CD006560.pub3Test
https://doi.org/10.1093/fampra/cmr013Test
https://doi.org/10.1586/14737167.2015.1091730Test
https://doi.org/10.1111/bjd.14821Test
https://doi.org/10.1073/pnas.1720589115Test
https://doi.org/10.1038/srep35241Test

المؤلفون: B. Leo, H. Schneider, J. Hammersen

المصدر: Journal of the European Academy of Dermatology and Venereology. 36:1863-1870

مصطلحات موضوعية: Adult, Ectodermal Dysplasia 1, Anhidrotic, Reproduction, Decision Making, Limb Deformities, Congenital, Dermatology, Ectodysplasins, Middle Aged, Young Adult, Cross-Sectional Studies, Infectious Diseases, Pregnancy, Humans, Female, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3c2231ff09bfd9cc37f1b707bf16dcTest
https://doi.org/10.1111/jdv.18267Test

المؤلفون: Schneider, H., Faschingbauer, F., Schuepbach-Mallepell, S., Körber, I., Wohlfart, S., Dick, A., Wahlbuhl, M., Kowalczyk-Quintas, C., Vigolo, M., Kirby, N., Tannert, C., Rompel, O., Rascher, W., Beckmann, M.W., Schneider, P.

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

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

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29694819; info:eu-repo/semantics/altIdentifier/eissn/1533-4406; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7D5E9C7A775B4; https://serval.unil.ch/notice/serval:BIB_7D5E9C7A775BTest; urn:issn:0028-4793; https://serval.unil.ch/resource/serval:BIB_7D5E9C7A775B.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7D5E9C7A775B4Test

الإتاحة: https://doi.org/10.1056/NEJMoa1714322Test
https://serval.unil.ch/notice/serval:BIB_7D5E9C7A775BTest
https://serval.unil.ch/resource/serval:BIB_7D5E9C7A775B.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7D5E9C7A775B4Test

المؤلفون: Schneider, Holm, Hadj-Rabia, Smail, Faschingbauer, Florian, Bodemer, Christine, Grange, Dorothy K, Norton, Mary E, Cavalli, Riccardo, Tadini, Gianluca, Stepan, Holger, Clarke, Angus, Guillén-Navarro, Encarna, Maier-Wohlfart, Sigrun, Bouroubi, Athmane, Porte, Florence

المصدر: 2020-Current year OA Pubs

مصطلحات موضوعية: Female, Pregnancy, Male, Humans, Ectodermal Dysplasia 1, Anhidrotic, Prospective Studies, Ectodermal Dysplasia, Ectodysplasins, Skin, Clinical Trials, Phase II as Topic, Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://digitalcommons.wustl.edu/oa_4/1154Test; https://digitalcommons.wustl.edu/context/oa_4/article/2156/viewcontent/Protocol_for_the_Phase_2_EDELIFE_Trial_Investigating_the_Efficacy_and_Safety_of_Intra_Amniotic_ER004_Administration_to_Male_Subjects_with_X_Linked_Hypohidrotic_Ectodermal_Dysplasia.pdfTest

الإتاحة: https://doi.org/10.3390/genes14010153Test
https://digitalcommons.wustl.edu/oa_4/1154Test
https://digitalcommons.wustl.edu/context/oa_4/article/2156/viewcontent/Protocol_for_the_Phase_2_EDELIFE_Trial_Investigating_the_Efficacy_and_Safety_of_Intra_Amniotic_ER004_Administration_to_Male_Subjects_with_X_Linked_Hypohidrotic_Ectodermal_Dysplasia.pdfTest

المؤلفون: Kaustio, Meri, Haapaniemi, Emma, Göös, Helka, Hautala, Timo, Park, Giljun, Syrjänen, Jaana, Einarsdottir, Elisabet, Sahu, Biswajyoti, Kilpinen, Sanna, Rounioja, Samuli, Fogarty, Christopher L., Glumoff, Virpi, Kulmala, Petri, Katayama, Shintaro, Tamene, Fitsum, Trotta, Luca, Morgunova, Ekaterina, Krjutskov, Kaarel, Nurmi, Katariina, Eklund, Kari, Lagerstedt, Anssi, Helminen, Merja, Martelius, Timi, Mustjoki, Satu, Taipale, Jussi, Saarela, Janna, Kere, Juha, Varjosalo, Markku, Seppanen, Mikko

المساهمون: University of Helsinki, Institute for Molecular Medicine Finland, Institute of Biotechnology, Medicum, Department of Clinical Chemistry and Hematology, Research Programs Unit, Päivi Marjaana Saavalainen / Principal Investigator, Research Programme of Molecular Medicine, Jussi Taipale / Principal Investigator, Genome-Scale Biology (GSB) Research Program, Clinicum, Nefrologian yksikkö, Department of Medicine, Diabetes and Obesity Research Program, Reumatologian yksikkö, Infektiosairauksien yksikkö, Department of Oncology, Janna Saarela / Principal Investigator, Juha Kere / Principal Investigator, Research Programme for Molecular Neurology, Molecular Systems Biology, Children's Hospital, HUS Children and Adolescents, HUS Comprehensive Cancer Center, HUS Inflammation Center, HUSLAB, HUS Internal Medicine and Rehabilitation, HUS Abdominal Center

مصطلحات موضوعية: Nuclear factor k light-chain enhancer of activated B cells, hypogammaglobulinemia, autoinflammation, Behcet disease, NFKB1, p50, p105, B cell, NF-KAPPA-B, COMMON VARIABLE IMMUNODEFICIENCY, ANHIDROTIC ECTODERMAL DYSPLASIA, T-CELLS, BEHCETS-DISEASE, AUTOINFLAMMATORY DISEASE, INTESTINAL HOMEOSTASIS, BACTERIAL-INFECTIONS, DENDRITIC CELLS, P50 SUBUNIT, 3111 Biomedicine, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: Supported by the Academy of Finland (nos. 288475 and 294173), the Sigrid Juselius Foundation, the Emil Aaltonen Foundation, the Finnish Medical Foundation, the Jane and Aatos Erkko Foundation, the Alma and K.A. Snellman Foundation, Biocentrum Helsinki, the Instrumentarium Science Foundation, the Finnish Cancer Institute, the Foundation for Pediatric Research, the Biomedicum Helsinki Foundation, the Integrative Life Science Doctoral Program (ILS) and Doctoral Programme in Biomedicine of the University of Helsinki, Karolinska Institutet Distinguished Professor Award, the Strategic Research Program for Diabetes Funding at Karolinska Institutet, and the Swedish Research Council.; Kaustio , M , Haapaniemi , E , Göös , H , Hautala , T , Park , G , Syrjänen , J , Einarsdottir , E , Sahu , B , Kilpinen , S , Rounioja , S , Fogarty , C L , Glumoff , V , Kulmala , P , Katayama , S , Tamene , F , Trotta , L , Morgunova , E , Krjutskov , K , Nurmi , K , Eklund , K , Lagerstedt , A , Helminen , M , Martelius , T , Mustjoki , S , Taipale , J , Saarela , J , Kere , J , Varjosalo , M & Seppanen , M 2017 , ' Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes ' , Journal of Allergy and Clinical Immunology , vol. 140 , no. 3 , pp. 782-796 . https://doi.org/10.1016/j.jaci.2016.10.054Test; ORCID: /0000-0001-6576-5440/work/39200615; ORCID: /0000-0002-0853-6219/work/39889929; ORCID: /0000-0002-1340-9732/work/37568859; ORCID: /0000-0002-6175-4872/work/40341244; ORCID: /0000-0001-9733-3650/work/39204273; ORCID: /0000-0002-0816-8241/work/39901439; 85013392319; e461792b-bfb1-4d0f-845e-5f671ba1330c; http://hdl.handle.net/10138/297945Test; 000409241500017

الإتاحة: http://hdl.handle.net/10138/297945Test