Zobrazeno 1 - 10
of 170
pro vyhledávání: '"Holm Schneider"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Hypohidrotic ectodermal dysplasia (HED) is a group of genodermatoses in which deficient ectodysplasin A signalling leads to maldevelopment of skin appendages, various eccrine glands, and teeth. Individuals with HED often have disr
Externí odkaz:
https://doaj.org/article/3f8f6c6aa7b54aaaba2c6936b52e35dd
Autor:
Holm Schneider
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
The past decade has witnessed an expansion of molecular approaches facilitating the differential diagnosis of ectodermal dysplasias, a group of genetic diseases characterized by the lack or malformation of hair, teeth, nails, and certain eccrine glan
Externí odkaz:
https://doaj.org/article/16c9e1a9f5bc419b9742fc56a3efdb69
Autor:
Sare Gökdere, Holm Schneider, Ute Hehr, Laure Willen, Pascal Schneider, Sigrun Maier-Wohlfart
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Deficiency of ectodysplasin A1 (EDA1) due to variants of the gene EDA causes X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic condition characterized by abnormal development of ectodermal structures. XLHED is defined by the triad of
Externí odkaz:
https://doaj.org/article/da831d60ad3b442ba6a695b761a0b3b3
Autor:
Holm Schneider, Christine Schweikl, Florian Faschingbauer, Smail Hadj-Rabia, Pascal Schneider
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 8, p 7155 (2023)
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://doaj.org/article/7050f1b2245749bab066734303429882
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic disorder, affects the normal development of ectodermal derivatives, such as hair, skin, teeth, and sweat glands. It is caused by pathogenic variants of the gene ED
Externí odkaz:
https://doaj.org/article/9ac5cf23b66b4d7aa79b9ebe8d498c7d
Autor:
Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte, Holm Schneider
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or an
Externí odkaz:
https://doaj.org/article/0150e33520264ab79bca69a84cac4ccc
Autor:
Holm Schneider, Michele De Luca
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/60aeb319ef8642f7be1caefe6acb8d47
Autor:
Laura De Rosa, Elena Enzo, Giulia Zardi, Christine Bodemer, Cristina Magnoni, Holm Schneider, Michele De Luca
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Epidermolysis bullosa (EB) is a group of devastating genetic diseases characterized by skin and mucosal fragility and formation of blisters, which develop either spontaneously or in response to minor mechanical trauma. There is no definitive therapy
Externí odkaz:
https://doaj.org/article/08476399f26d4f3597ce596b93c7edb9
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 20, p 12189 (2022)
Pathogenic variants of the gene Eda cause X-linked hypohidrotic ectodermal dysplasia (XLHED), which is characterized by structural abnormalities or lack of ectodermal appendages. Signs of dysplasia are not restricted to derivatives of the ectodermal
Externí odkaz:
https://doaj.org/article/4c3326a1241d4fb79181bd5149afaa25
Autor:
Clara-Sophie Kossel, Mandy Wahlbuhl, Sonia Schuepbach-Mallepell, Jung Park, Christine Kowalczyk-Quintas, Michaela Seeling, Klaus von der Mark, Pascal Schneider, Holm Schneider
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
X-linked hypohidrotic ectodermal dysplasia with the cardinal symptoms hypodontia, hypotrichosis and hypohidrosis is caused by a genetic deficiency of ectodysplasin A1 (EDA1). Prenatal EDA1 replacement can rescue the development of skin appendages and
Externí odkaz:
https://doaj.org/article/29f8c79279b345aaa0a27af1af43f8d9