ArticleAmerican journal of human genetics1995
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 84 citations in OpenAlex.
- Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.European journal of human genetics : EJHG · 2026Article
- Engine breakdown of lysosomes and related organelles and the resulting physiology.Frontiers in cell and developmental biology · 2025Review
- Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.Orphanet journal of rare diseases · 2018Article
- Hermansky-Pudlak syndrome in pregnancy: A case report.Obstetric medicine · 2016Article
- Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).Ophthalmic genetics · 2016Article
- Genetic testing in diffuse parenchymal lung disease.Orphanet journal of rare diseases · 2012Review
- Genetic interstitial lung disease.Clinics in chest medicine · 2012Review
- Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.American journal of respiratory and critical care medicine · 2009Article
- Typing Plasmodium yoelii microsatellites using a simple and affordable fluorescent labeling method.Molecular and biochemical parasitology · 2007Article
- Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.The Journal of investigative dermatology · 2006Article
- Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking.The Journal of investigative dermatology · 2005Article
- Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3.The American journal of pathology · 2005Article
- Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.American journal of human genetics · 2001Article
- Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.American journal of human genetics · 1999Article
- Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.American journal of human genetics · 1998Article
- Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.American journal of human genetics · 1998Article
- Albinism: modern molecular diagnosis.The British journal of ophthalmology · 1998Review
- Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.American journal of human genetics · 1997Article
- Pigment, platelets, and Hermansky-Pudlak in human and mouse.Proceedings of the National Academy of Sciences of the United States of America · 1997Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that affects pigment production and platelet function and causes the deposition of a ceroid-like material in various tissues. Variability in the phenotype and the presence of several potential mouse models suggest that HPS may be a heterogeneous disorder. In order to identify a gene responsible for HPS, we collected blood samples from a relatively homogeneous population in Puerto Rico where the HPS carrier frequency is estimated to be 1 in 21. Analysis of pooled DNA samples allowed us to rapidly screen the genome for candidate loci, and significant evidence for linkage was detected for a marker on chromosome 10q. This region of the human genome is conserved syntenically with the region on mouse chromosome 19 where two possible mouse models for HPS, pale ear and ruby eye, are located. This linkage result was verified with additional markers, and a maximum LOD score of 5.07 at theta = .001 was calculated for marker D10S198. Haplotype analysis places the HPS gene in a region of approximately 14 cM that contains the markers D10S198 and D10S1239.
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7573033PMC1801499W1593636302What OpenQuestion holds
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.