|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Similarly, levels and activity of different MMPs were also found to be increased in the lungs of mice carrying the Bloc3 HPS gene mutation and in the bronchoalveolar lavage fluid of subjects with HPS.
|
31272455 |
2019 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
BLOC-2 and BLOC-3 were destabilized due to the mutation of these HPS genes which are so far the only reported causative genes in Chinese HPS patients, in which HPS-1 and HPS-6 are the most common subtypes.
|
30387913 |
2019 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Hermansky-Pudlak Syndrome (HPS) is a rare disease caused by mutations in the genes coding for various HPS proteins.
|
31776394 |
2019 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Meanwhile, there are ten known human HPS genes, each leading to a particular clinical HPS subtype (HPS1-HPS10).
|
28284561 |
2017 |
|
Chronic Obstructive Airway Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.
|
26503814 |
2016 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes.
|
23893484 |
2013 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We recommend that unconfirmed OCA patients in this ethic group be considered for mutational screening of known HPS genes, in particular c.398+5G>A and c.980-1G>T, to ensure that patients can be monitored and treated for clinical complications unique to HPS.
|
19398212 |
2009 |
|
Hantavirus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
All human HPS genes (HPS1-8) and five genes corresponding to murine HPS models were evaluated.
|
17041891 |
2006 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
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 |
|
Hantavirus Infections
|
0.100 |
Biomarker
|
group |
BEFREE |
Studies of the molecular functions of HPS proteins will reveal important details of vesicle trafficking and may lead to therapies for HPS.
|
15170859 |
2004 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Overall, however, we detected mutations in the HPS gene in only about half of non-Puerto Rican patients, and we present evidence that suggests locus heterogeneity for HPS.
|
9497254 |
1998 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We have now identified a variant HPS cDNA that contains the same 5' sequence as the published HPS gene and a unique 3' sequence.
|
9579545 |
1998 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here, we describe characterization of the mouse Hps cDNA and genomic locus, and identification of pathologic Hps gene mutations in ep but not in ru mice, establishing mouse pale ear as an animal model for human HPS.
|
9158155 |
1997 |
|
Hantavirus Infections
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A positional cloning strategy using yeast artificial chromosomes spanning the HPS locus was used to identify the HPS gene and its murine counterpart.
|
9256466 |
1997 |
|
Hermanski-Pudlak Syndrome
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Hermansky-Pudlak Syndrome (HPS) is a rare disease caused by mutations in the genes coding for various HPS proteins.
|
31776394 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.080 |
Biomarker
|
disease |
BEFREE |
This retrospective review identified 170 individuals with a specific type of albinism identified by mutation(s) in a gene known to cause albinism (for OCA1, OCA2, and Hermansky-Pudlak syndrome ([HPS]) or a specific phenotype (white hair and no melanin pigment in OCA1A; pigmentary mosaicism in the obligate carriers for males with OA1).
|
27647118 |
2016 |
|
Hermanski-Pudlak Syndrome
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes.
|
23893484 |
2013 |
|
Hermanski-Pudlak Syndrome
|
0.080 |
Biomarker
|
disease |
BEFREE |
Hermansky-Pudlak Syndrome-type 3 (HPS-3) is a relatively mild subtype of HPS with minimal cutaneous and ocular depigmentation.
|
15632015 |
2005 |
|
Hermanski-Pudlak Syndrome
|
0.080 |
Biomarker
|
disease |
BEFREE |
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
|
12847290 |
2003 |
|
Hermanski-Pudlak Syndrome
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1 (MIM# 203100), the OCA2 gene and OCA2 (MIM# 203200), the tyrosinase-related protein-1 gene (TYRP1) and OCA3 (MIM# 203290), the HPS gene and Hermansky-Pudlak syndrome (MIM# 203300), the CHS gene (CHS1), and Chediak-Higashi syndrome (MIM# 214500), and the X-linked ocular albinism gene and OA1 (MIM#300500).
|
10094567 |
1999 |
|
Hermanski-Pudlak Syndrome
|
0.080 |
Biomarker
|
disease |
BEFREE |
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.
|
9759648 |
1998 |
|
Hermanski-Pudlak Syndrome
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
|
9182823 |
1997 |
|
Liver carcinoma
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
In addition to the mitogenic activity of HPS, HPS expression is decreased in patients with hepatoma.
|
23792031 |
2013 |
|
Liver carcinoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
Hepassocin regulates cell proliferation of the human hepatic cells L02 and hepatocarcinoma cells through different mechanisms.
|
21618590 |
2011 |