Pachyonychia Congenita, Type 2 (disorder)

Known as: Pachyonychia Congenita, Jackson Lawler Type, Jackson Lawler Type Pachyonychia Congenita, Jackson-Lawler Syndrome (Pc-2) 
A subtype of pachyonychia congenita that is associated with mutations in the genes for KERATIN-17 or KERATIN-6B.
National Institutes of Health

Papers overview

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Review
2016
Review
2016
Type 2 diabetes mellitus (T2DM) is a worldwide epidemic, which by all predictions will only increase. To help in combating the… (More)
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Highly Cited
2011
Highly Cited
2011
The differentiation of patient-derived induced pluripotent stem cells (iPSCs) to committed fates such as neurons, muscle and… (More)
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Highly Cited
2010
Highly Cited
2010
BACKGROUND Understanding the mechanisms of repair and regeneration of the kidney after injury is of great interest because there… (More)
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Highly Cited
2009
Highly Cited
2009
Terri A Addona, Susan E Abbatiello, Birgit Schilling, Steven J Skates, D R Mani, David M Bunk, Clifford H Spiegelman, Lisa J… (More)
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Highly Cited
2008
Highly Cited
2008
Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous features and a range of other abnormalities… (More)
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Review
2008
Review
2008
Dyskeratosis congenita is an inherited syndrome characterised by mucocutaneous features, bone marrow failure, an increased risk… (More)
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Highly Cited
2003
Highly Cited
2003
The Jackson shaker (js) mouse carries a recessive mutation causing phenotypes such as deafness, abnormal behavior (circling and… (More)
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Highly Cited
2000
Highly Cited
2000
We used expression profiling to define the pathophysiological cascades involved in the progression of two muscular dystrophies… (More)
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Highly Cited
1999
Highly Cited
1999
Various lines of evidence have implicated inducible cyclooxygenase-2 (COX-2) in fever production. Thus, its expression is… (More)
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Highly Cited
1998
Highly Cited
1998
The institution in which I teach defines professionalism in medicine as a quality that includes the following virtues: altruism… (More)
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