نتایج جستجو برای: ژن edar

تعداد نتایج: 15984  

Journal: :Cureus 2023

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by mutation in either the ectodysplasin (EDA), A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result impaired development of ectodermal-derived structures. The literature defines two types dysplasia, which are hypohidrotic and hidrotic. X‐linked (XLHED), also kn...

Journal: :IJITWE 2006
Maytham Safar Dariush Ebrahimi

AbstrAct The continuous K nearest neighbor (CKNN) query is an important type of query that finds continuously the KNN to a query point on a given path. We focus on moving queries issued on stationary objects in Spatial Network Database (SNDB) The result of this type of query is a set of intervals (defined by split points) and their corresponding KNNs. This means that the KNN of an object travel...

2014
Alice F Goodwin Jacinda R Larson Kyle B Jones Denise K Liberton Maya Landan Zhifeng Wang Anne Boekelheide Margaret Langham Vagan Mushegyan Snehlata Oberoi Rosalie Brao Timothy Wen Ramsey Johnson Kenneth Huttner Dorothy K Grange Richard A Spritz Benedikt Hallgrímsson Andrew H Jheon Ophir D Klein

Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ec...

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...

2016
Ying Xiao Daniel T Thoresen Lingling Miao Jonathan S Williams Chaochen Wang Radhika P Atit Sunny Y Wong Isaac Brownell

The Sonic hedgehog (Shh) signaling pathway regulates developmental, homeostatic, and repair processes throughout the body. In the skin, touch domes develop in tandem with primary hair follicles and contain sensory Merkel cells. The developmental signaling requirements for touch dome specification are largely unknown. We found dermal Wnt signaling and subsequent epidermal Eda/Edar signaling prom...

Journal: :Archives of histology and cytology 2010
A D S Atukorala Keiji Inohaya Otto Baba Makoto J Tabata R A R K Ratnayake Dawud Abduweli Shohei Kasugai Hiroshi Mitani Yoshiro Takano

Ectodermal contribution to the induction of pharyngeal teeth that form in the endodermal territory of the oropharyngeal cavity in some teleost fishes has been a matter of considerable debate. To determine the role of ectodermal cell signaling in scale and tooth formation and thereby to gain insights in evolutionary origin of teeth, we analyzed scales and teeth in rs-3 medaka mutants characteriz...

Journal: :Journal of African Archaeology 2021

Abstract This research note presents evidence for the oldest Middle Pleistocene Eastern Saharan human activity from area referred to as Desert Atbara River ( EDAR ), Sudan, which is currently threatened by gold mining. Preliminary results of multifaceted analyses indicate Homo sapiens during MIS 5 well erectus 7–11 or earlier.

Journal: :Iranian Journal of Pediatrics 2021

: Hypohidrotic ectodermal dysplasia (HED) is the most common type of that result faulty development leading to such defects as hypotrichosis, anodontia or hypodontia, and hypohidrosis anhidrosis. X-linked HED caused by mutations in ectodysplasin A (EDA) gene accounts for 90% all cases. Autosomal other involved genes, EDA-receptor (EDAR) gene. In this study, we included two distinct families wit...

Journal: :American journal of human genetics 2009
Sarah E Medland Dale R Nyholt Jodie N Painter Brian P McEvoy Allan F McRae Gu Zhu Scott D Gordon Manuel A R Ferreira Margaret J Wright Anjali K Henders Megan J Campbell David L Duffy Narelle K Hansell Stuart Macgregor Wendy S Slutske Andrew C Heath Grant W Montgomery Nicholas G Martin

Hair morphology is highly differentiated between populations and among people of European ancestry. Whereas hair morphology in East Asian populations has been studied extensively, relatively little is known about the genetics of this trait in Europeans. We performed a genome-wide association scan for hair morphology (straight, wavy, curly) in three Australian samples of European descent. All th...

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