Wissenschaftliche Arbeiten, Forschungsprojekte

Nachfolgend finden Sie Wissenschaftliche Arbeiten sowie Forschungsprojekte zum Thema ed.

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)

Zusammenfassung lesen

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)

Zusammenfassung lesen

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)

Zusammenfassung bei PubMed lesen

Zusammenfassung bei www.nature.com lesen

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)

Zusammenfassung bei PubMed lesen

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)

Zusammenfassung bei PubMed lesen

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)

Zusammenfassung bei Wiley Online Library lesen

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)

Beim Journal of Biological Chemistry lesen

Zusammenfassung bei PubMed lesen

Consider further differential diagnoses.

Commentary on the paper „The febrile child: diagnosis and treatment“

Dtsch Ärztebl Int. 111, 251

Schneider, H. (2014)

Beim Deutschen Ärzteblatt lesen

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)

Zusammenfassung in der Wiley Online Library lesen

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)

Beim Journal of Investigative Dermatology lesen

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)

PDF lesen

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.

Zusammenfassung bei PubMed lesen

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)

Zusammenfassung bei Europe PMC lesen

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

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.

Zusammenfassung bei PubMed lesen

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).

Bei PubMed lesen

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).

PDF lesen