ARTHROGRYPOSIS, DISTAL, TYPE 2B

Known as: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES, DA2B, FREEMAN-SHELDON SYNDROME VARIANT 
 
National Institutes of Health

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Broader (1)

Arthrogryposis
Autosomal dominant inheritanceByzanthine arch palateCalcaneovalgus deformityCongenital clubfoot
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Papers overview

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2013
2013
A ratiometric two-photon fluorescent probe reveals reduction in mitochondrial H2S production in Parkinson's disease gene knockout astrocytes.
Hydrogen sulfide (H2S) is a multifunctional signaling molecule that exerts neuroprotective effects in oxidative stress. In this… (More)
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Highly Cited
2010
Highly Cited
2010
Superfamily-wide portrait of serine hydrolase inhibition achieved by library-versus-library screening.
Serine hydrolases (SHs) are one of the largest and most diverse enzyme classes in mammals. They play fundamental roles in… (More)
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Review
2009
Review
2009
Lung cancer in never smokers: clinical epidemiology and environmental risk factors.
More than 161,000 lung cancer deaths are projected to occur in the United States in 2008. Of these, an estimated 10 to 15% will… (More)
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2007
2007
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.
Tropomyosin (TM), a sarcomeric thin-filament protein, plays an essential part in muscle contraction by regulating actin-myosin… (More)
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2007
2007
Selective proliferation of rat hepatocyte progenitor cells in serum-free culture
This protocol details a method of obtaining selectively proliferated hepatocyte progenitor cells using hyaluronic acid (HA… (More)
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2007
2007
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.
Autosomal dominant distal arthrogryposes (DAs) are a group of muscle diseases characterized by congenital contractures of the… (More)
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2007
2007
Improvement of cylindrical cloaking with the SHS lining.
We analyze the effectiveness of cloaking an infinite cylinder from observations by electromagnetic waves in three dimensions. We… (More)
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2006
2006
Expression of CD44 in rat hepatic progenitor cells.
BACKGROUND/AIMS Small hepatocytes (SHs) are hepatic progenitor cells, but the phenotypical difference between SHs and mature… (More)
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Highly Cited
2005
Highly Cited
2005
A model for stochastic hybrid systems with application to communication networks
We propose a model for Stochastic Hybrid Systems (SHSs) where transitions between discrete modes are triggered by stochastic… (More)
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Highly Cited
1999
Highly Cited
1999
Reconstruction of hepatic organoid by rat small hepatocytes and hepatic nonparenchymal cells.
Hepatic cells isolated from an adult rat liver, consisting of small hepatocytes (SHs), mature hepatocytes (MHs), liver epithelial… (More)
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