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Page 1
Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.
O'Brien KJ, Parisi X, Shelman NR, Merideth MA, Introne WJ, Heller T, Gahl WA, Malicdan MCV, Gochuico BR. O'Brien KJ, et al. J Intern Med. 2021 Jul;290(1):129-140. doi: 10.1111/joim.13224. Epub 2021 Jan 10. J Intern Med. 2021. PMID: 33423334 Free article.
Genotyping showed that patients with biallelic variants in HPS1, HPS3, HPS4 or HPS6 were diagnosed with IBD. Six children had very early-onset IBD. Patients with HPS-3 had mild manifestations of IBD. ...CONCLUSIONS: IBD resembling Crohn's disease affects some patients with …
Genotyping showed that patients with biallelic variants in HPS1, HPS3, HPS4 or HPS6 were diagnosed with IBD. Six children had very ea …
Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3.
Kiener S, Kehl A, Loechel R, Langbein-Detsch I, Müller E, Bannasch D, Jagannathan V, Leeb T. Kiener S, et al. Genes (Basel). 2020 Jun 9;11(6):636. doi: 10.3390/genes11060636. Genes (Basel). 2020. PMID: 32526956 Free PMC article.
Variants in the human HPS3 gene cause Hermansky-Pudlak syndrome 3, which involves a mild form of oculocutaneous albinism and prolonged bleeding time. ...In order to clearly distinguish HPS3-related from the TYRP1-related brown coat color, …
Variants in the human HPS3 gene cause Hermansky-Pudlak syndrome 3, which involves a mild form of oculocut …
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing.
Bastida JM, Morais S, Palma-Barqueros V, Benito R, Bermejo N, Karkucak M, Trapero-Marugan M, Bohdan N, Pereira M, Marin-Quilez A, Oliveira J, Yucel Y, Santos R, Padilla J, Janusz K, Lau C, Martin-Izquierdo M, Couto E, Francisco Ruiz-Pividal J, Vicente V, Hernández-Rivas JM, González-Porras JR, Luisa Lozano M, Lima M, Rivera J. Bastida JM, et al. Ann Med. 2019 Mar;51(2):141-148. doi: 10.1080/07853890.2019.1587498. Epub 2019 Apr 16. Ann Med. 2019. PMID: 30990103 Free PMC article.
The Spanish patients carried a homozygous p.Pro685Leufs17* deletion (n = 2) in HPS4, or the novel p.Arg822* homozygous variant (n = 1) in HPS3. In the case of two Turkish sisters, a novel missense homozygous HPS4 variant (p.Leu91Pro) was found. ...
The Spanish patients carried a homozygous p.Pro685Leufs17* deletion (n = 2) in HPS4, or the novel p.Arg822* homozygous variant (n = 1) in …
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
Zamora-Cánovas A, de la Morena-Barrio B, Marín-Quilez A, Sierra-Aisa C, Male C, Fernández-Mosteirin N, Trapero-Marugán M, Padilla J, Garrido-Rodriguez P, Sánchez-Fuentes A, Rodríguez-Alen A, Gómez-González PL, Revilla N, de la Morena-Barrio ME, Bastida JM, Corral J, Rivera J, Lozano ML. Zamora-Cánovas A, et al. J Thromb Haemost. 2024 Mar;22(3):851-859. doi: 10.1016/j.jtha.2023.11.007. Epub 2023 Nov 24. J Thromb Haemost. 2024. PMID: 38007062 Free article.
In patients with HPS, a homozygous deletion in HPS5 was suspected in P3, and 2 heterozygous HPS3 variants, c.2464C>T (p.Arg822 ) and a deletion affecting 2 exons, were reported in P4. ...Using nanopore, we characterized novel defects in ITGB3, HPS5, and HPS3, hig …
In patients with HPS, a homozygous deletion in HPS5 was suspected in P3, and 2 heterozygous HPS3 variants, c.2464C>T (p.Arg822 ) a …
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Michaud V, Lasseaux E, Plaisant C, Verloes A, Perdomo-Trujillo Y, Hamel C, Elcioglu NH, Leroy B, Kaplan J, Jouk PS, Lacombe D, Fergelot P, Morice-Picard F, Arveiler B. Michaud V, et al. Pigment Cell Melanoma Res. 2017 Jan;30(6):563-570. doi: 10.1111/pcmr.12608. Epub 2017 Oct 20. Pigment Cell Melanoma Res. 2017. PMID: 28640947
All 10 HPS types are caused by defects in vesicle trafficking of lysosome-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the biogenesis of lysosome-related organelles complex-2 (BLOC-2). ...
All 10 HPS types are caused by defects in vesicle trafficking of lysosome-related organelles (LRO) proteins. The HPS5 protein associates wit …
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW, Schiff ER, Tailor VK, Malka S, Neveu MM, Theodorou M, Moosajee M. Chan HW, et al. Genes (Basel). 2021 Mar 30;12(4):508. doi: 10.3390/genes12040508. Genes (Basel). 2021. PMID: 33808351 Free PMC article.
Seventeen families had confirmed mutations in TYR (n = 9), OCA2, (n = 4), HPS1 (n = 1), HPS3 (n = 1), HPS6 (n = 1), and GPR143 (n = 1). Molecular diagnosis of albinism remains challenging due to factors such as missing heritability. ...
Seventeen families had confirmed mutations in TYR (n = 9), OCA2, (n = 4), HPS1 (n = 1), HPS3 (n = 1), HPS6 (n = 1), and GPR143 (n = 1 …
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
Zaman Q, Sadeeda, Anas M, Rehman G, Khan Q, Iftikhar A, Ahmad M, Owais M, Ahmad I, Muthaffar OY, Abdulkareem AA, Bibi F, Jelani M, Naseer MI. Zaman Q, et al. Genes (Basel). 2023 Jan 5;14(1):145. doi: 10.3390/genes14010145. Genes (Basel). 2023. PMID: 36672886 Free PMC article.
To the best of our knowledge, the two novel variants identified in HPS3 and HPS4 genes causing Hermansky-Pudlak syndrome are the first report from the Pakhtun Pakistani population. Our work expands the pathogenic spectrum of HPS3 and HPS4 genes, provides successful …
To the best of our knowledge, the two novel variants identified in HPS3 and HPS4 genes causing Hermansky-Pudlak syndrome are the firs …
After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.
Serrano-González J, Montes-Rodríguez I, Renta JY, Rojas R, Cadilla CL. Serrano-González J, et al. Mol Genet Genomic Med. 2024 Jul;12(7):e2493. doi: 10.1002/mgg3.2493. Mol Genet Genomic Med. 2024. PMID: 38994739 Free PMC article.
Since they did not harbor the founder changes in the HPS1 and HPS3 genes common in Puerto Ricans, as adults they wanted to know the type of albinism they had. ...
Since they did not harbor the founder changes in the HPS1 and HPS3 genes common in Puerto Ricans, as adults they wanted to know the t …
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
Wei A, Yuan Y, Bai D, Ma J, Hao Z, Zhang Y, Yu J, Zhou Z, Yang L, Yang X, Li L, Li W. Wei A, et al. Pigment Cell Melanoma Res. 2016 Nov;29(6):702-706. doi: 10.1111/pcmr.12534. Epub 2016 Oct 19. Pigment Cell Melanoma Res. 2016. PMID: 27593200
Among these mutations, 14 were previously unreported alleles (four in HPS1, three in HPS3, two in HPS5, five in HPS6). Our results demonstrate the feasibility and utility of NGS-based panel diagnostics for HPS. ...
Among these mutations, 14 were previously unreported alleles (four in HPS1, three in HPS3, two in HPS5, five in HPS6). Our results de …
27 results