ArticleAmerican journal of human genetics1998
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
37 citing papers in PubMed, 161 citations in OpenAlex.
- Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome.Nature communications · 2025Article
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
- Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.International journal of molecular sciences · 2024Article
- Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.International journal of molecular sciences · 2024Review
- Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils.Life science alliance · 2024Article
- High-throughput microfluidic blood testing to phenotype genetically linked platelet disorders: an aid to diagnosis.Blood advances · 2023Article
- Genetic analyses of Vietnamese patients with oculocutaneous albinism.Journal of clinical laboratory analysis · 2022Article
- Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia.ERJ open research · 2022Article
- Two Novel HomozygousLife (Basel, Switzerland) · 2021Article
- A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.Cold Spring Harbor molecular case studies · 2021Article
- A Novel Likely Pathogenic Variant in theCells · 2021Review
- Hermansky-Pudlak syndrome: Mutation update.Human mutation · 2020Article
- Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells.Cell reports · 2019Article
- Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.Orphanet journal of rare diseases · 2019Article
- Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.Pigment cell & melanoma research · 2017Article
- Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.Experimental and therapeutic medicine · 2016Article
- A Novel Splice Site Mutation inInternational journal of molecular and cellular medicine · 2016Article
- Article
- Disruption of GRM1-mediated signalling using riluzole results in DNA damage in melanoma cells.Pigment cell & melanoma research · 2014Article
- Mutational analysis of oculocutaneous albinism: a compact review.BioMed research international · 2014Review
Corrections and comments
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Authors and funding
19 authors at 14 institutions in 8 countries.
Funding
Abstract
Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles-melanosomes, platelet-dense granules, and lysosomes. As reported elsewhere, we mapped the human HPS gene to chromosome segment 10q23, positionally cloned the gene, and identified three pathologic mutations of the gene, in patients from Puerto Rico, Japan, and Europe. Here, we describe mutation analysis of 44 unrelated Puerto Rican and 24 unrelated non-Puerto Rican HPS patients. A 16-bp frameshift duplication, the result of an apparent founder effect, is nearly ubiquitous among Puerto Rican patients. A frameshift at codon 322 may be the most frequent HPS mutation in Europeans. We also describe six novel HPS mutations: a 5' splice-junction mutation of IVS5, three frameshifts, a nonsense mutation, and a one-codon in-frame deletion. These mutations define an apparent frameshift hot spot at codons 321-322. 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.