Wissenschaftliche Arbeiten, Forschungsprojekte, Publikationen

Nachfolgend finden Sie Wissenschaftliche Arbeiten sowie Forschungsprojekte und Publikationen zum Thema Ektodermale Dysplasien.

Influence of Reduced Saliva Production on Phonation in
Patients With Ectodermal Dysplasia

by Marion Semmler, Stefan Kniesburges, Franziska Pelka, Maria Ensthaler, Olaf Wendler, Anne Schützenberger.
 
Journal of Voice 2021
 
 

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

by Körber L, Schneider H, Fleischer N, Maier-Wohlfart S.
 
Orphanet J Rare Dis. 2021 Feb 23;16(1):98.
 

Subjective Oral Health-Related Quality of Life and Objective Oral Health in People with Ectodermal Dysplasia

by Nils Niekamp (1), Johannes Kleinheinz (1), Daniel R. Reissmann (2), Lauren Bohner (1) and Marcel Hanisch (1)
 
(1) Department of Cranio-Maxillofacial Surgery, Research Unit Rare Diseases with Orofacial Manifestations, University Hospital Münster, Albert-Schweitzer-Campus 1, Building W 30, D-48149 Münster, Germany
 
(2) Department of Prosthetic Dentistry, Center for Dental and Oral Medicine, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, D-20251 Hamburg, Germany
 
Author to whom correspondence should be addressed.
Int. J. Environ. Res. Public Health 2021, 18(1), 143;
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Received: 3 November 2020 / Revised: 15 December 2020 / Accepted: 23 December 2020 / Published: 28 December 2020

(This article belongs to the Special Issue Modern Patient-Centered Dental Care)

Vorgeburtlicher Proteinersatz zur Behandlung der ektodermalen Dysplasie

Autor: Univ.-Prof. Dr. med. Holm Schneider (2021)

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Methods for the Administration of EDAR Pathway Modulators in Mice

 In: Bayry J. (eds) The TNF Superfamily. Methods in Molecular Biology, vol 2248. Humana, New York, NY.(2021)

Sonia Schuepbach-Mallepell, Christine Kowalczyk-Quintas, Angela Dick, Mahya Eslami, Michele Vigolo, Denis J. Headon, Michael Cheeseman, Holm Schneider, and Pascal Schneider

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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

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Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects

Br J Clin Pharmacol. 2020; 86: 20632069.

Iris Körber Ophir D. Klein Patrick Morhart Florian Faschingbauer Dorothy K. Grange Angus Clarke Christine Bodemer Silvia Maitz Kenneth Huttner Neil Kirby Caroline Durand Holm Schneider

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T Cell Impairment Is Predictive for a Severe Clinical Course
in NEMO Deficiency

Journal of Clinical Immunology (2020) 40:421–434

Stephanie Heller & Uwe Kölsch & Thomas Magg & Renate Krüger & Andrea Scheuern & Holm Schneider & Anna Eichinger & Volker Wahn & Nadine Unterwalder & Myriam Lorenz & Klaus Schwarz & Christian Meisel & Ansgar Schulz & Fabian Hauck & Horst von Bernuth (21 Januar 2020)

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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)

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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)

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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)

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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)

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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)

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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

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23rd International Conference on Prenatal Diagnosis and Therapy

7.-11. September 2019, Singapore Expo
#ispd2019

Hammersen, et al. (2019)

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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

Zusammenfassung lesen

Korrespondenzadresse:
Dr. med. dent. Anne Lauenstein-Krogbeumker MSc. MSc.
Milchzahnsafari GmbH
Am Tuttenbrocksee 5
59269 Beckum
anne.lauenstein@milchzahnsafari.de

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)

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Sweating ability of patients with EEC and AEC syndrome

Eur. J. Pediatr. 177, 1727-1731

Ferstl, P., Wohlfart, S., Schneider, H. (2018)

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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)

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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

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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)

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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)

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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)

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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)

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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)

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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

Noninvasive 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

Das fiebernde Kind:
Diagnostisches Vorgehen und Behandlung.

von Prof. Dr. med. Tim Niehues
Deutsches Ärzteblatt | Jg. 110 | Heft 45 | 8. November 2013

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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)

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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)

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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. (2012)

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)

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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

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

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)

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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).

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Ocular symptoms and signs in ectodermal dysplasia syndromes.

Graefes Arch Clin Exp Ophthalmol 2004, 242,495-500.

Kaercher, T.

Zusammenfassung bei PubMed lesen