|
Albinism, Oculocutaneous
|
0.400 |
Biomarker
|
disease |
BEFREE |
Using next-generation sequencing (NGS), we have screened 100 hypopigmentation genes in OCA or OA patients and identified four HPS-1, one HPS-3, one HPS-4, one HPS-5, and three HPS-6.
|
30387913 |
2019 |
|
Albinism, Oculocutaneous
|
0.400 |
Biomarker
|
disease |
BEFREE |
Patients with HPS-1 exhibit oculocutaneous albinism, colitis, bleeding and pulmonary fibrosis postulated to result from a dysregulated immune response.
|
27459687 |
2016 |
|
Albinism, Oculocutaneous
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic counseling of 51 Chinese OCA families (39 OCA-1 with mutations in the TYR gene, 6 OCA-2 with mutations in the OCA2 gene, 4 OCA-4 with mutations in the SLC45A2 gene, 1 HPS-1 (Hermansky-Pudlak syndrome-1) with mutation in the HPS1 gene, and 1 mixed OCA-1 and OCA-4) led us to perform the prenatal genetic testing of OCA using amniotic fluid cells through the implementation of our optimized strategy.
|
26165494 |
2015 |
|
Albinism, Oculocutaneous
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our results suggest that SLC24A5 is a previously unreported nonsyndromic OCA candidate gene and that the SLC24A5 transporter is transported into mature melanosomes by HPS protein complexes.
|
23364476 |
2013 |
|
Albinism, Oculocutaneous
|
0.400 |
Biomarker
|
disease |
BEFREE |
HPS is an autosomal recessive disorder characterized by oculocutaneous albinism and prolonged bleeding.
|
19523149 |
2009 |
|
Albinism, Oculocutaneous
|
0.400 |
Biomarker
|
disease |
BEFREE |
Given the discovery of HPS-1 in an ethnic group where oculocutaneous albinism (OCA) is highly prevalent, it is possible that HPS in India is under-diagnosed.
|
19398212 |
2009 |
|
Albinism, Oculocutaneous
|
0.400 |
Biomarker
|
disease |
BEFREE |
To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with "classical" OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (SILV), in 121 unrelated, unselected non-Hispanic/Latino Caucasian patients carrying the clinical diagnosis of OCA.
|
18463683 |
2008 |
|
Albinism, Oculocutaneous
|
0.400 |
Biomarker
|
disease |
BEFREE |
Results of this study suggest that patients with OCA (all types included) and patients with HPS-1 have thicker foveas than the general population.
|
18046229 |
2008 |
|
Albinism, Oculocutaneous
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This HPS database (HPSD; http://liweilab.genetics.ac.cn/HPSD/) provides integrated, annotatory, and curative data that is distributed in a variety of public databases or predicted by bioinformatics servers for the recently cloned human and mouse HPS genes, as well as for the genes responsible for HPSrelated syndromes, such as ChediakHigashi Syndrome (CHS), Griscelli syndrome (GS), oculocutaneous albinism (OCA), Usher syndrome type 1B (USH1B), and ocular albinism (OA).
|
16550546 |
2006 |
|
Albinism, Oculocutaneous
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the analysis of the HPS1 gene in 24 Japanese OCA patients who lacked mutations in the four genes known to cause OCA (TYR/OCA1, P/OCA2, TYRP1/OCA3, and MATP/OCA4), and the identification of eight different HPS1 mutations in ten of these patients, four of which were novel (W583X, L668P, 532insC, 1691delA).
|
16185271 |
2005 |
|
Albinism, Oculocutaneous
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).
|
9562579 |
1998 |