Wissenschaftliche Arbeiten, Forschungsprojekte, Publikationen
Nachfolgend finden Sie Wissenschaftliche Arbeiten sowie Forschungsprojekte und Publikationen zum Thema Ektodermale Dysplasie.
Subjective Oral Health-Related Quality of Life and Objective Oral Health in People with Ectodermal Dysplasia
Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz
Karola Maria STIELER und Ulrike BLUME-PEYTAVI, Department of Dermatology and Allergy, Section Paediatric Dermatology Outpatient Department, Charité – Universitätsmedizin Berlin, Charitéplatz 1, DE-10117 Berlin
Theodosia BARTZELA und Christian FINKE,Center for Dental and Craniofacial Sciences, Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Charité – Universitätsmedizin Berlin, CC3, Berlin
Judith FISCHER, Institute for Human Genetics, University Medical Center Freiburg, Freiburg, Germany.
E-mail: karola.stieler@charite.de
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study
Orphanet J. Rare Dis. 15, 7
Wohlfart, S., Meiller, R., Hammersen, J., Park, J., Menzel-Severing, J., Melichar, V., Huttner, K., Johnson, R., Porte, F., Schneider, H. (2020)
https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1288-x
Prenatal treatment of X-linked hypohidrotic ectodermal dysplasia using recombinant ectodysplasin in a canine model
J. Pharmacol. Exp. Ther. 370, 806-813
Margolis, C.A., Schneider, P., Huttner, K., Kirby, N., Houser, T.P., Wildman, L., Grove, G., Schneider, H., Casal, M.L. (2019)
http://jpet.aspetjournals.org/content/370/3/806.long
Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia
Clin. Genet. 95, 427-432
Wohlfart, S., Schneider, H. (2019)
https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13503
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography
Prenat. Diagn. 39, 796-805
Hammersen, J., Wohlfart, S., Goecke, T.W., et al. (2019)
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5384
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway
Am. J. Med. Genet. Part A 179, 442-447
Wright, J.T., Fete, M., Schneider, H., et al. (2019)
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.61045
Attenuation of mammary gland dysplasia and feeding difficulties in Tabby mice by fetal therapy
J. Mammary Gland Biol. Neoplasia 23, 125-138
Wahlbuhl, M., Schuepbach-Mallepell, S., Kowalczyk-Quintas, C., Dick, A., Fahlbusch, F.B., Schneider, P., Schneider, H. (2018)
https://link.springer.com/article/10.1007%2Fs10911-018-9399-x
Sweating ability of patients with EEC and AEC syndrome
Eur. J. Pediatr. 177, 1727-1731
Ferstl, P., Wohlfart, S., Schneider, H. (2018)
https://www.springermedizin.de/sweating-ability-of-patients-with-p63-associated-syndromes/16016910
Prenatal correction of X-linked hypohidrotic ectodermal dysplasia
New Engl. J. Med. 378, 1604-1610
Schneider, H., Faschingbauer, F., Schuepbach-Mallepell, S., et al. (2018)
https://www.nejm.org/doi/full/10.1056/NEJMoa1714322
23rd International Conference on Prenatal Diagnosis and Therapy
7.-11. September 2019, Singapore Expo
#ispd2019
Hammersen, et al. (2019)
Ektodermale Dysplasie bei einer siebenjährigen Patientin
Mit freundlicher Genehmigung von Anne Lauenstein-Krogebeumker
Lauenstein-Krogbeumker, Anne: Ektodermale Dysplasie bei einer siebenjährigen Patientin.
zm online, Heft 15_16/2019, 16.08.2019
Korrespondenzadresse:
Dr. med. dent. Anne Lauenstein-Krogbeumker MSc. MSc.
Milchzahnsafari GmbH
Am Tuttenbrocksee 5
59269 Beckum
anne.lauenstein@milchzahnsafari.de
Zahnärztliche Versorgung von zwei Kindergartenkindern mit ektodermaler Dysplasie – Kasuistik
Dental care of two kindergarten children with ectodermal dysplasia – casuistry
Mit freundlicher Genehmigung des Deutschen Ärzteverlags, Erstveröffentlichung in der Oralprophylaxe & Kinderzahnheilkunde (2019; 41: 31−37)
Schmidt P: Zahnärztliche Versorgung von zwei Kindergartenkindern mit ektodermaler Dysplasie – Kasuistik.
Oralprophylaxe Kinderzahnheilkd 2019; 41: 31−37
DOI 10.3238/OPKZH.2019.0031−0037
Korrespondenzadresse:
Dr. Peter Schmidt, Oberarzt Universität Witten/Herdecke
Abteilung für Behindertenorientierte Zahnmedizin
Alfred-Herrhausen-Straße 50, 58448 Witten
peter.schmidt@uni-wh.de
Self-Assessment of Oral Health-Related Quality of Life in People with Ectodermal Dysplasia in Germany
Marcel Hanisch *, Sonja Sielker , Susanne Jung, Johannes Kleinheinz and Lauren Bohner
Department of Cranio-Maxillofacial Surgery, Research Unit Rare Diseases with Orofacial,Manifestations (RDOM), University Hospital Münster, Albert-Schweitzer-Campus 1, Building W 30, D-48149 Münster, Germany; sonja.sielker@ukmuenster.de (S.S.); susanne.jung@ukmuenster.de (S.J.); johannes.kleinheinz@ukmuenster.de (J.K.); lauren@usp.br (L.B.)
* Correspondence: marcel.hanisch@ukmuenster.de; Tel.: +49-(0)-2-51/83-4-70-02; Fax: +49-(0)-2-51/83-4-71-84
Received: 4 May 2019; Accepted: 29 May 2019; Published: 31 May 2019
Ectodysplasin A in biological fluids of ectodermal dysplasia
J. Dent. Res. 96, 217-224
Podzus, J., Kowalczyk-Quintas, C., Schuepbach-Mallepell, S., Willen, L., Staehlin, G., Vigolo, M., Tardivel, A., Headon, D., Kirby, N., Mikkola, M., Schneider, H., Schneider, P. (2017)
Unconditionally? Daring to have ordinary children in an age of technical perfection.
Bedingungslos? Kinder als Wagnis im Zeitalter der technischen Perfektionierung
Imago Hom. 24, 11-13
Schneider, H. (2017)
Automatic recognition of the XLHED phenotype from facial images.
Am. J. Med. Genet. Part A 173, 2408-2414
Hadj-Rabia, S., Schneider, H., Navarro, E., Klein, O., Kirby, N., Huttner, K., Wolf, L., Orin, M., Wohlfart, S., Bodemer, C., Grange, D. (2017)
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.
Hypohidrotische ektodermale Dysplasie: Stillschwierigkeiten aufgrund gestörter Brustentwicklung.
Geburth. Frauenheilkunde 77, 377-382
Wahlbuhl-Becker M., Faschingbauer F., Beckmann M.W., Schneider H. (2017)
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidroticectodermal dysplasia.
Am. J. Med. Genet. Part A 170, 249-253
Wohlfart, S. Söder, S., Smahi, A., Schneider, H. (2016)
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in four independent cases of rare genomic rearrangements
J. Hum. Genet. 61, 891-897
Wohlfart, S., Hammersen, J., Schneider, H. (2016)
Non-invasive prenatal diagnosis of hypohidrotic ectodermal dysplasia by tooth germ sonography.
Ultraschall Med. 36, 381-385
Wünsche S., Jüngert J., Faschingbauer F., Mommsen H., Goecke T., Schwanitz K., Stepan H.,
Schneider H. (2015)
Diagnosis of X-linked hypohidrotic ectodermal dysplasia by meibography and infrared thermography of the eye.
Curr. Eye Res. 40, 884-890
Kaercher, T., Dietz, J., Jacobi, C., Berz, R., Schneider, H. (2015)
Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model.
Am J. Med. Genet. Part A, 164, 2482-2489
Salinas, C.F., Irvine, A.D., Itin, P.H., Di Giovanna, J.J., Schneider, H., Clarke, A.J., Sternesky McGovern, L.,
Fete, M. (2014)
Generation and characterization of function blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia.
J. Biol. Chem. 289, 4273-4285
Kowalczyk-Quintas, C., Willen, L., Dang, A., Sarrasin, H., Tardivel, A., Hermes, K., Schneider, H., Gaide, O.,Donzé, O., Kirby, N., Headon, D.J., Schneider, P. (2014)
Consider further differential diagnoses.
Commentary on the paper „The febrile child: diagnosis and treatment“
Dtsch Ärztebl Int. 111, 251
Schneider, H. (2014)
Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.
Am J. Med. Genet. Part A, 164, 2424-2432
Burger, K., Schneider, A.T., Wohlfart, S., Kiesewetter, F., Huttner, K., Johnson, R., Schneider, H. (2014)
Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia.
J. Invest. Dermatol. 134, 2985-2987
Hermes, K., Schneider, P., Krieg, P., Dang, A., Huttner, K., Schneider, H. (2014)
Prävalenz und Typen der Oligondotie in Mittelhessen
Inauguraldissertation zur Erlangung des Grades eines Doktors der Zahnmedizin
des Fachbereichs Medizin der Justus-Liebig-Universität Gießen,
Vitalis Riemer (2013)
Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.
Eur. J. Pediatr. 172, 1023–1031
Dietz, J., Kaercher, T., Schneider, A.-T., Zimmermann, T., Huttner, K., Johnson, R., Schneider, H. (2013)
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.
PMID: 22759387 [PubMed – as supplied by publisher]
Knaudt B, Volz T, Krug M, Burgdorf W, Röcken M, Berneburg M.
Source: Department of Dermatology, Eberhard Karls University, Liebermeisterstrasse 25, D-72076 Tübingen, Germany.
Systematic evaluation of exertional hyperthermia in children and adolescents with hypohidrotic ectodermal dysplasia: an observational study
Pediatr. Res. 70, 297-301
Hammersen, J.E., Neukam, V., Nüsken, K.D., Schneider, H. (2011)
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia
J. Med. Genet. 48, 426-432
doi: 10.1136/jmg.2010.084012
Schneider, H., Hammersen, J., Preisler-Adams, S., Huttner, K., Rascher, W., Bohring, A. (2011)
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrom
Am J Hum Genet. 2010 Aug 13;87(2):265-73.
Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B.
Department of Biomedical Sciences, Gabriele d’Annunzio University, Chieti, Italy. f.brancati@css-mendel.it
Abstract
Ectodermal dysplasias form a large disease family with more than 200 members. The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS). We used a homozygosity mapping approach to map the EDSS locus to 1q23 in a consanguineous Algerian family. By candidate gene analysis, we identified a homozygous mutation in the PVRL4 gene that not only evoked an amino acid change but also led to exon skipping. In an Italian family with two siblings affected by EDSS, we further detected a missense and a frameshift mutation. PVRL4 encodes for nectin-4, a cell adhesion molecule mainly implicated in the formation of cadherin-based adherens junctions. We demonstrated high nectin-4 expression in hair follicle structures, as well as in the separating digits of murine embryos, the tissues mainly affected by the EDSS phenotype. In patient keratinocytes, mutated nectin-4 lost its capability to bind nectin-1. Additionally, in discrete structures of the hair follicle, we found alterations of the membrane localization of nectin-afadin and cadherin-catenin complexes, which are essential for adherens junction formation, and we found reorganization of actin cytoskeleton. Together with cleft lip and/or palate ectodermal dysplasia (CLPED1, or Zlotogora-Ogur syndrome) due to an impaired function of nectin-1, EDSS is the second known „nectinopathy“ caused by mutations in a nectin adhesion molecule.
PMID: 20691
Ocular symptoms and signs in ectodermal dysplasia syndromes.
Graefes Arch Clin Exp Ophthalmol 2004, 242,495-500.
Kaercher, T.
Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy
Early Hum. Dev. 86, 397-399
Blüschke, G., Nüsken, K.-D., Schneider, H. (2010):
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Am J Hum Genet 85:97-105.
Studie der Uni Münster.
Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffann M, Ledig S, Sel S, Wieacker P, Röpke A (2009).
Prothetische Versorgung eines 6-jährigen Kindes mit Hypodontie
Eine Fallbericht
Universitätsklinikum der Albert Ludwigs-Universität Freiburg, Klinik für Zahn-, Mund- und Kieferheikunde, Abteilung für Zahnärztliche Prothetik (Ärztlicher Direktor: Prof. Dr. J. R. Strub)
Ahmed-Shadi Akkad, DDS; Bächle M., dipl. Biol.; Kohal Ralf J., Prof. Dr. med. dent.; (2006).