Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ectodysplasins/genetics"'
Autor:
Holm Schneider, Christine Schweikl, Florian Faschingbauer, Smail Hadj-Rabia, Pascal Schneider
Publikováno v:
International journal of molecular sciences, vol. 24, no. 8, pp. 7155
International Journal of Molecular Sciences; Volume 24; Issue 8; Pages: 7155
International Journal of Molecular Sciences; Volume 24; Issue 8; Pages: 7155
X-linked hypohidrotic ectodermal dysplasia (XLHED), caused by a genetic deficiency of ectodysplasin A1 (EDA1), is a rare developmental disorder of ectodermal derivatives such as hair, sweat glands, and teeth. The absence of sweat glands and perspirat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6935ca73489ed826b8ed8cf19bab4c7
https://opus4.kobv.de/opus4-fau/files/22840/ijms-24-07155-v2.pdf
https://opus4.kobv.de/opus4-fau/files/22840/ijms-24-07155-v2.pdf
Autor:
Sigrun Wohlfart, Michele Vigolo, Matthias W. Beckmann, Corinna Tannert, Holm Schneider, Pascal Schneider, Christine Kowalczyk-Quintas, Florian Faschingbauer, Wolfgang Rascher, Neil Kirby, Mandy Wahlbuhl, Angela Dick, Iris Körber, Oliver Rompel, Sonia Schuepbach-Mallepell
Publikováno v:
The New England Journal of Medicine, vol. 378, no. 17, pp. 1604-1610
Summary Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee1cea2e85d223f867d593a20f53472
https://serval.unil.ch/resource/serval:BIB_7D5E9C7A775B.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_7D5E9C7A775B.P001/REF.pdf
Autor:
Ruth Schmidt-Ullrich, Päivi H. Lindfors, Darielle Lönnblad, Maria Voutilainen, Elisa Rysti, Teresa Elo, Pascal Schneider, Marja L. Mikkola, Ewelina Trela, Vera Shirokova
Publikováno v:
PLoS Genetics
Plos Genetics, vol. 11, no. 11, pp. e1005676
PLoS Genetics, Vol 11, Iss 11, p e1005676 (2015)
Plos Genetics, vol. 11, no. 11, pp. e1005676
PLoS Genetics, Vol 11, Iss 11, p e1005676 (2015)
Mammary gland development commences during embryogenesis with the establishment of a species typical number of mammary primordia on each flank of the embryo. It is thought that mammary cell fate can only be induced along the mammary line, a narrow re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dfcace9b16b9cc037a122e912fa6cd5
http://hdl.handle.net/10138/162487
http://hdl.handle.net/10138/162487
Autor:
Laure Willen, Sylvia A. Frazier-Bowers, Gabriele Mues, Hitesh Kapadia, Rena N. D'Souza, Pascal Schneider, Aubry Tardivel, Robyn Seaman
Publikováno v:
Eur J Hum Genetics
European Journal of Human Genetics, vol. 18, no. 1, pp. 19-25
European Journal of Human Genetics, vol. 18, no. 1, pp. 19-25
Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606). We have performed an in vitro fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a21bcc7915207bf7eb1c97d86656e1
Autor:
Rena N. D'Souza, Suzanne E. Clements, Clark Morris, J. Timothy Wright, Jonathan Zonana, Marja L. Mikkola, Olivier Gaide
Publikováno v:
American Journal of Medical Genetics. A, Vol. 149A, No 9 (2009) pp. 2062-2067
Hereditary conditions are traditionally classified based either on physical/physiological attributes or using the names of the individuals credited with identifying the condition. For the 170 plus conditions classified as ectodermal dysplasias (EDs),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2521a615fad8a6bb40ccff8b5cededf2
https://pubmed.ncbi.nlm.nih.gov/19681147
https://pubmed.ncbi.nlm.nih.gov/19681147
Autor:
Olivier Gaide
Publikováno v:
American Journal of Medical Genetics. A, Vol. 149A, No 9 (2009) pp. 2042-2044
Ectodermal dysplasias (EDs) form a complex and heterogeneous group of diseases currently defined and classified according to their clinical symptoms. The characterization, for several EDs, of the molecular events underlying their development, not onl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14a337f961bd23b9b89fe19b94108df9
https://pubmed.ncbi.nlm.nih.gov/19681129
https://pubmed.ncbi.nlm.nih.gov/19681129
Autor:
Martyn J. James, Pascal Schneider, Johanna Laurikkala, Risto Jaatinen, Marja Pummila, Marja L. Mikkola, Ingrid Fliniaux, Irma Thesleff
Publikováno v:
Development, vol. 134, no. 1, pp. 117-125
Ectodermal organogenesis is regulated by inductive and reciprocal signalling cascades that involve multiple signal molecules in several conserved families. Ectodysplasin-A (Eda), a tumour necrosis factor-like signalling molecule, and its receptor Eda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00b6ffb14840abdee5d2acc1c3fdb08c
https://pubmed.ncbi.nlm.nih.gov/17164417
https://pubmed.ncbi.nlm.nih.gov/17164417