نتایج جستجو برای: eda

تعداد نتایج: 3242  

Journal: :Human molecular genetics 1997
S Ezer D Schlessinger A Srivastava J Kere

Anhidrotic ectodermal dysplasia (EDA) is a rare X-linked recessive disorder characterized by the absence or hypoplasia of hair, teeth and sweat glands. The gene responsible for the disorder has recently been cloned. The predicted gene product is a 135 amino acid protein with no significant homology to previously known proteins. As a first step to analyze function, we have studied the subcellula...

2017
Yao Lin Wei Yin Zhuan Bian

BACKGROUND The phenotypic characters of X -linked Hypohidrotic Ectodermal Dysplasia (XLHED) are the dysplasia of epithelial- and mesenchymal-derived organs. Ectodysplasin (EDA) is the causative gene of XLHED. METHODS The current study reported a large Chinese XLHED pedigree. The genomic DNA of adult and fetus was extracted from peripheral blood and shed chorion cell respectively. The nucleoti...

Journal: :Human molecular genetics 2002
Chang-Yi Cui Meredith Durmowicz Tetsuya S Tanaka Andrew J Hartung Tadashi Tezuka Ken Hashimoto Minoru S H Ko Anand K Srivastava David Schlessinger

Mutations in the EDA gene cause anhidrotic ectodermal dysplasia (EDA), with lesions in skin appendage formation. To begin to analyze EDA pathways, we have used expression profiling on 15,000-gene mouse cDNA microarrays, comparing adult mouse skin from wild-type, EDA-defective (Tabby) mice, and Tabby mice supplemented with the EDA-A1 isoform, which is sufficient to rescue multiple Tabby phenotyp...

2003
Andrés F. Muro Anil K. Chauhan Srecko Gajovic Alessandra Iaconcig Fabiola Porro Giorgio Stanta Francisco E. Baralle

Fibronectins (FNs) are multifunctional high molecular weight glycoproteins present in the blood plasma and in the ECMs of tissues. The FN primary transcript undergoes alternative splicing in three regions generating up to 20 main different variants in humans. However, the precise role of the FN isoforms is poorly understood. One of the alternatively spliced exons is the extra domain A (EDA) or ...

Journal: :Human molecular genetics 2008
Johanna Pispa Marja Pummila Philip A Barker Irma Thesleff Marja L Mikkola

The development of ectodermal organs requires signalling by ectodysplasin (Eda), a tumor necrosis factor (TNF) family member, its receptor Edar and downstream activation of the nuclear factor kappaB (NF-kappaB) transcription factor. In humans, mutations in the Eda pathway components cause hypohidrotic ectodermal dysplasia, a syndrome characterized by missing teeth, sparse hair and defects in sw...

Journal: :Inf. Sci. 2008
Weishan Dong Xin Yao

Multivariate Gaussian models are widely adopted in continuous Estimation of Distribution Algorithms (EDAs), and covariance matrix plays the essential role in guiding the evolution. In this paper, we propose a new framework for Multivariate Gaussian based EDAs (MGEDAs), named Eigen Decomposition EDA (ED-EDA). Unlike classical EDAs, ED-EDA focuses on eigen analysis of the covariance matrix, and i...

Journal: :Development 2011
Otso Häärä Sayumi Fujimori Ruth Schmidt-Ullrich Christine Hartmann Irma Thesleff Marja L Mikkola

The developing submandibular salivary gland (SMG) is a well-studied model for tissue interactions and branching morphogenesis. Its development shares similar features with other ectodermal appendages such as hair and tooth. The ectodysplasin (Eda) pathway is essential for the formation and function of several ectodermal organs. Mutations in the signaling components of the Eda pathway lead to a ...

2010
Torsten Kluba Fabian Hofmann Sabine Bredanger Gunnar Blumenstock Thomas Niemeyer

This prospective study aimed to compare the efficacy of epidural (EDA) versus intravenous (PCA) application of analgesics after lumbar fusion. Fifty-two patients scheduled for elective posterior instrumented lumbar fusion were randomized into two groups. EDA patients received an epidural catheter intraoperatively, and administration of ropivacain and sulfentanil was started after a normal posto...

Journal: :Developmental biology 2011
K L Wells C Mou D J Headon A S Tucker

Despite their importance to oral health, the mechanisms of minor salivary gland (SG) development are largely unexplored. Here we present in vivo and in vitro analyses of developing minor SGs in wild type and mutant mice. Eda, Shh and Fgf signalling pathway genes are expressed in these glands from an early stage of development. Developing minor SGs are absent in Eda pathway mutant embryos, and t...

2017
Xiaodan Xu Hong Zhang Ke Wang Tao Tu Yuan Jiang

Objective. To observe the protective effect of edaravone (Eda) on astrocytes after prolonged exposure to carbon monoxide (CO) and further to investigate the potential mechanisms of Eda against CO-induced apoptosis. Methods. The rat primary cultured astrocytes were cultured in vitro and exposed to 1% CO for 24 h after being cultured with different concentrations of Eda. MTT assay was used to det...

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