ArticlePigment cell & melanoma research2016
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.
Open access · greenAbstract readLetter
In one paragraph
Article in Pigment cell & melanoma research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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0cells of the map it votes in
18citing papers in PubMed
1.3field-weighted citation impact, top 22% of its field
What it found
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Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
- Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.Scientific reports · 2017Trial
- BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.American journal of human genetics · 2026Article
- Functional and Morphological Plasticity of the Endolysosomal System: Pigment Organelles at the Crossroads of Physiology and Pathology.Biology of the cell · 2025Review
- BLOC-1 and BORC: Complex regulators of endolysosomal dynamics.Cell chemical biology · 2025Review
- A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9).BMC genomics · 2024Article
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.BMC ophthalmology · 2024Article
- Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.Journal of thrombosis and haemostasis : JTH · 2024Article
- Article
- A Novel Likely Pathogenic Variant in theCells · 2021Review
- Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.Journal of clinical laboratory analysis · 2021Article
- Sex-dimorphic effects of biogenesis of lysosome-related organelles complex-1 deficiency on mouse perinatal brain development.Journal of neuroscience research · 2021Article
- Hermansky-Pudlak syndrome: Mutation update.Human mutation · 2020Article
- Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.BMC pulmonary medicine · 2019Article
- A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.Medicine · 2019Observational
- The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.Traffic (Copenhagen, Denmark) · 2019Review
- Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.Molecular genetics and metabolism · 2017Article
- Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Annals of the American Thoracic Society · 2016Review
- A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.Therapeutic advances in respiratory diseaseReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 5 institutions in 2 countries.
Sairah YousafDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.
Mohsin ShahzadDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.
Tasleem KausarInstitute of Molecular Biology & Biotechnology, Bahauddin Zakariya University, Multan, Pakistan.
Shakeel A SheikhMolecular Biology & Genetics Department, Medical Research Center, Liaquat University of Medical & Health Sciences, Jamshoro, Pakistan.
Nabeela TariqInstitute of Molecular Biology & Biotechnology, Bahauddin Zakariya University, Multan, Pakistan.
Asra S ShabbirUniversity College of Pharmacy, Punjab University, Lahore, Pakistan.
University of Washington Center for Mendelian Genomics
Muhammad AliGovernment College University, Faisalabad, Pakistan.
Ali M WaryahMolecular Biology & Genetics Department, Medical Research Center, Liaquat University of Medical & Health Sciences, Jamshoro, Pakistan.
Rehan S ShaikhInstitute of Molecular Biology & Biotechnology, Bahauddin Zakariya University, Multan, Pakistan.
Saima RiazuddinDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.
Zubair M AhmedDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.
Bahauddin Zakariya University · PKUniversity of Maryland, Baltimore · USLiaquat University of Medical & Health Sciences · PKGovernment College University, Faisalabad · PKUniversity of the Punjab · PK
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MUW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MMolecular Genetics of nonsyndromic Oculocutaneous AlbinismR56AR065483 · NIAMS · UNIVERSITY OF MARYLAND BALTIMORE · PI AHMED, ZUBAIR M. · 2014 to 2015
$666kNCATS NIH HHS UL1 TR001863NHGRI NIH HHS HG006493NHGRI NIH HHS HG006504NHGRI NIH HHS HG006542NHGRI NIH HHS U54 HG006493NHGRI NIH HHS U54 HG006504NHGRI NIH HHS U54 HG006542NHGRI NIH HHS UM1 HG006493NHGRI NIH HHS UM1 HG006504NHGRI NIH HHS UM1 HG006542NIAMS NIH HHS R56 AR065483NIAMS NIH HHS R56AR065483
Abstract
PubMed holds no abstract for this paper.
Indexed as
AllelesPedigreeAdolescentAdultChildChild, PreschoolFemaleHermanski-Pudlak SyndromeHumansInfantMaleMembrane ProteinsMiddle AgedPakistanMembrane Proteins
Identifiers
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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.