|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
Biomarker
|
disease |
BEFREE |
Pupil responses were compared between CSNB patients and healthy subjects (n = 34) at baseline, at maximum of constriction, for post-illumination pupil responses (PIPR) and the slope of redilation using Cohen's d. A subgroup comparison was performed descriptively between CACNA1F and NYX associated CSNB patients using the same parameters.
|
30982101 |
2019 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> The complete form of X-linked congenital stationary night blindness (CSNB1A) is a very rare genetic disease caused by mutation in the NYX gene.
|
31826698 |
2019 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.
|
26234941 |
2015 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness.
|
17881478 |
2007 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, two Chinese families with the complete form of CSNB (CSNB1) are presented.
|
16670814 |
2006 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
Biomarker
|
disease |
BEFREE |
The difference in mf-OP amplitude between CSNB1 and CSNB2 patients reflects the different molecular mechanisms underlying the two types of disease, which differentially affect the postreceptoral pathways of cone signal processing.
|
15583843 |
2005 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
|
15761389 |
2005 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
Biomarker
|
disease |
BEFREE |
These data suggest an important function of the Nyx protein in the inner retina and provide evidence that CSNB1 is based on a defect in the inner retinal circuitry.
|
12714669 |
2003 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
NYX gene mutations were a more frequent cause of CSNBX than CACNA1F gene mutations in the 11 British families studied.
|
14609846 |
2003 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our report of patient population mutation screening for both CSNBX genes, and our exclusion of RP2 and RGPR, indicates that mutations in CACNA1F and NYX are likely to account for all CSNBX.
|
12552565 |
2003 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The complete type of X-linked congenital stationary night blindness (CSNB1) in human and mouse is caused by mutations in the NYX gene.
|
14507859 |
2003 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
Biomarker
|
disease |
BEFREE |
This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones.
|
12187427 |
2002 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
|
12397430 |
2002 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The purpose of the present study was to determine the utility and limitations of haplotype-based genetic mapping in estimating the location of the NYX gene, which has recently been identified as the causative gene for a rare inherited retinal disorder known as the complete type of X-linked congenital stationary night blindness (CSNB1).
|
11408949 |
2001 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In order to refine the localization of the CSNB1 gene and to demonstrate genetic homogeneity, linkage analysis was performed in two large CSNB1 families.
|
11172618 |
2001 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
Biomarker
|
disease |
BEFREE |
To identify novel candidate genes for the "complete form" of CSNB (i.e., CSNB1) we screened the physically vast region Xp11.3-Xp11.4 for cDNA sequences.
|
10982042 |
2000 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We describe a Sardinian family with complete CSNBX and define better the limits of the CSNB1 genetic locus on Xp11.4 through linkage analysis.
|
10439964 |
1999 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The apparent clinical heterogeneity in X-linked CSNB reflects the recently described genetic heterogeneity in which the locus for complete CSNB (CSNB1) was mapped to Xp11.4, and the locus for incomplete CSNB (CSNB2) was refined within Xp11.23 (ref.5).
|
9662400 |
1998 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The results describe a new localization for CSNBX (CSNB4) between the RP2 and RP3 loci on proximal Xp.
|
9418727 |
1997 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
Biomarker
|
disease |
BEFREE |
A family is described with X-linked congenital stationary night blindness of the complete type (CSNB1) in which clinical variation between affected males resulted in diagnostic difficulties.
|
8375106 |
1993 |
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
|
0.400 |
Biomarker
|
disease |
CTD_human |
|
|
|