Xerocytosis

Known as: DHS1, PSEUDOHYPERKALEMIA EDINBURGH, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis 
 
National Institutes of Health

Related topics

Related topics

5 relations

Broader (2)

Anemia, Hemolytic, CongenitalHydrops Fetalis
Autosomal dominant inheritanceChronic hemolytic anemiaPIEZO1, MET2225ARG

Papers overview

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2017
2017
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.
Mutations in PIEZO1 are the primary cause of hereditary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of… (More)
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2015
2015
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and… (More)
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2014
2014
Hereditary xerocytosis revisited.
A 21-year-old male student presented in 1980 as an Olympic athlete with a 12-year history of jaundice, pallor, and darkened urine… (More)
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Highly Cited
2013
Highly Cited
2013
Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.
Familial xerocytosis (HX) in humans is an autosomal disease that causes dehydration of red blood cells resulting in hemolytic… (More)
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Highly Cited
2012
Highly Cited
2012
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.
Hereditary xerocytosis (HX, MIM 194380) is an autosomal dominant hemolytic anemia characterized by primary erythrocyte… (More)
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Review
2008
Review
2008
Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine, and sphingosine-1-phosphate.
Ceramidases catalyze hydrolysis of ceramides to generate sphingosine (SPH), which is phosphorylated to form sphingosine-1… (More)
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2003
2003
Lateral diffusion rates of lipid, water, and a hydrophobic drug in a multilamellar liposome.
The lateral diffusion constants of 1-palmitoyl-2-oleoyl-sn-glycero-3 phosphocholine (POPC), water, and ibuprofen were measured in… (More)
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1997
1997
Lipid remodeling leads to the introduction and exchange of defined ceramides on GPI proteins in the ER and Golgi of Saccharomyces cerevisiae.
Previous experiments with Saccharomyces cerevisiae had suggested that diacylglycerol-containing glycosylphosphatidylinositols… (More)
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1996
1996
Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach.
Xerocytosis is a rare, autosomal dominant-inherited membrane defect of the erythrocytes with an increased osmotic resistance and… (More)
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1987
1987
The xerocytosis of Hb SC disease.
Patients with Hb SC disease were found to have microcytic and hyperchromic red cell indices despite mild reticulocytosis. Iron… (More)
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