|
Hermanski-Pudlak Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
HPS4 protein forms a BLOC-3 complex with HPS1, another <i>HPS</i> gene product, and the complex has been proposed to function as a guanine nucleotide exchange factor (GEF) for RAB32, a member of the Rab small GTPase family (Rab32), and Rab38 (Rab32/38-GEF) and also as a Rab9 effector.
|
30837268 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate this in patient-derived cell lines for two diseases: limb-girdle muscular dystrophy type 2G (LGMD2G)<sup>1</sup> and Hermansky-Pudlak syndrome type 1 (HPS1)<sup>2</sup>.
|
30944467 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), one had HPS-3, one had HPS-4, and four had non-syndromic oculocutaneous albinism associated with TYR variants (OCA1).
|
30791930 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The patient proved to have a compound heterozygous mutation of the HPS1 gene resulting in Hermansky-Pudlak syndrome type 1.
|
30634918 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.
|
31619213 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hermansky-Pudlak Syndrome type-1 (HPS-1) is an autosomal recessive disorder caused by mutations in HPS1 which result in reduced expression of the HPS-1 protein, defective lysosome-related organelle (LRO) transport and absence of platelet delta granules.
|
27459687 |
2016 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs).
|
27345974 |
2016 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hps1 is essential for proper biogenesis of lysosome-related organelles and loss of its function leads to a disease called type 1 Hermansky-Pudlak Syndrome (HPS).
|
25375251 |
2014 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.
|
25117010 |
2014 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
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
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in the HPS1 gene among Puerto Rican patients.
|
20662851 |
2011 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
|
16185271 |
2005 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene.
|
16020891 |
2005 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
|
16185271 |
2005 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To compare clinically 2 different subtypes of Hermansky-Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3).
|
15288994 |
2004 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, we have identified subjects with one HPS1 heterozygous mutation displaying significant reductions in PDG without the clinical phenotype of Hermansky-Pudlak syndrome.
|
15020272 |
2004 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
Biomarker
|
disease |
LHGDN |
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.
|
12756248 |
2003 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance.
|
14510955 |
2003 |
|
Hermanski-Pudlak Syndrome
|
0.500 |
Biomarker
|
disease |
LHGDN |
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
|
0.500 |
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 |