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Holm Schneider
Imperial College London
48Publications
17H-index
1,259Citations
Publications 46
Newest
#1Carol Margolis (UPenn: University of Pennsylvania)
#2Pascal Schneider (UNIL: University of Lausanne)H-Index: 79
Last.Margret L. Casal (UPenn: University of Pennsylvania)H-Index: 22
view all 9 authors...
X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by defects in the EDA gene that inactivate the function of ectodysplasin A1 (EDA1). This leads to abnormal development of eccrine glands, hair follicles, and teeth, and to frequent respiratory infections. Previous studies in the naturally occurring dog model demonstrated partial prevention of the XLHED phenotype by postnatal administration of recombinant EDA1. The results suggested that a single or two temporally spaced injections of E...
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#1Johanna HammersenH-Index: 4
#2Sigrun WohlfartH-Index: 6
Last.Florian FaschingbauerH-Index: 14
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Objective In X‐linked hypohidrotic ectodermal dysplasia (XLHED), dysfunction of ectodysplasin A1 (EDA1) due to EDA mutations results in malformation of hair, teeth, and sweat glands. Hypohidrosis, which can cause life‐threatening hyperthermia, is amenable to intrauterine therapy with recombinant EDA1. This study aimed at evaluating tooth germ sonography as a noninvasive means to identify affected fetuses in pregnant carrier women. Methods Sonography, performed at 10 study sites between gestation...
3 CitationsSource
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#1John Timothy Wright (UNC: University of North Carolina at Chapel Hill)H-Index: 8
#2Mary FeteH-Index: 8
Last.Maria I. Morasso (NIH: National Institutes of Health)H-Index: 28
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3 CitationsSource
#1Johanna HammersenH-Index: 4
Last.Holm SchneiderH-Index: 17
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#1Mandy WahlbuhlH-Index: 1
#2Sonia Schuepbach-Mallepell (UNIL: University of Lausanne)H-Index: 5
Last.Holm SchneiderH-Index: 17
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Hypohidrotic ectodermal dysplasias (HED) are hereditary differentiation disorders of multiple ectodermal structures including the mammary gland. The X-linked form of HED (XLHED) is caused by a lack of the secreted signaling molecule ectodysplasin A1 (EDA1) which is encoded by the gene EDA and belongs to the tumor necrosis factor (TNF) superfamily. Although male patients (hemizygous) are usually more severely affected by XLHED, heterozygous female carriers of an EDA mutation may also suffer from ...
1 CitationsSource
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 normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gest...
20 CitationsSource
#1Johanna HammersenH-Index: 4
#2Cristina HasH-Index: 29
Last.Holm SchneiderH-Index: 17
view all 7 authors...
1 CitationsSource
#1Smail Hadj-Rabia (Paris V: Paris Descartes University)H-Index: 29
#2Holm SchneiderH-Index: 17
Last.Dorothy K. Grange (WashU: Washington University in St. Louis)H-Index: 32
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X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder that affects ectodermal structures and presents with a characteristic facial appearance. The ability of automated facial recognition technology to detect the phenotype from images was assessed . In Phase 1 of this study we examined if the age of male patients affected the technology's recognition. In Phase 2 we investigated how well the technology discriminated affected males cases from female carriers and from individuals ...
9 CitationsSource
Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. Th...
3 CitationsSource
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