Retinoschisis, Juvenile, X-Linked

Known as: Juvenile X-Linked Retinoschisis, Retinoschisis X-Linked Juvenile, X-Linked Juvenile Retinoschisis 
X chromosome recessive disorder, found nearly exclusively in males and becoming apparent around puberty. Characterized initially by a cystlike… (More)
National Institutes of Health

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Broader (1)

Retinoschisis
Retinoschisis, Degenerative

Papers overview

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Highly Cited
2009
Highly Cited
2009
BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism
Juvenile hemochromatosis is an iron-overload disorder caused by mutations in the genes encoding the major iron regulatory hormone… (More)
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Highly Cited
2005
Highly Cited
2005
Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis.
X-linked juvenile retinoschisis (RS) is a common cause of juvenile macular degeneration in males. RS is characterized by cystic… (More)
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Highly Cited
2004
Highly Cited
2004
RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.
PURPOSE To create and evaluate a mouse model of human X-linked juvenile retinoschisis (XLRS) and then investigate whether… (More)
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Highly Cited
2004
Highly Cited
2004
Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis
Juvenile hemochromatosis is an early-onset autosomal recessive disorder of iron overload resulting in cardiomyopathy, diabetes… (More)
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Highly Cited
2003
Highly Cited
2003
Prior juvenile diagnoses in adults with mental disorder: developmental follow-back of a prospective-longitudinal cohort.
BACKGROUND If most adults with mental disorders are found to have a juvenile psychiatric history, this would shift etiologic… (More)
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Review
2003
Review
2003
Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation.
Human hepcidin, a 25-amino acid peptide made by hepatocytes, may be a new mediator of innate immunity and the long-sought iron… (More)
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Highly Cited
2002
Highly Cited
2002
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.
Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of… (More)
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Highly Cited
2001
Highly Cited
2001
Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells.
PURPOSE To examine the biochemical properties, cell expression, and localization of RS1, the product of the gene responsible for… (More)
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Highly Cited
1997
Highly Cited
1997
Positional cloning of the gene associated with X-linked juvenile retinoschisis
X–linked juvenile retinoschisis (RS) is a recessively inherited vitreo-retinal degeneration characterized by macular pathology… (More)
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Review
1995
Review
1995
X linked retinoschisis.
Background Haas first described what is now acknowledged as being X linked retinoschisis (XLRS) nearly a century ago in a paper… (More)
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