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For: Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR. Hermansky-Pudlak syndrome: Mutation update. Hum Mutat 2020;41:543-80. [PMID: 31898847 DOI: 10.1002/humu.23968] [Cited by in Crossref: 23] [Cited by in F6Publishing: 35] [Article Influence: 11.5] [Reference Citation Analysis]
Number Citing Articles
1 Nieto-alamilla G, Behan M, Hossain M, Gochuico BR, Malicdan MCV. Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis. Molecular Genetics and Metabolism 2022. [DOI: 10.1016/j.ymgme.2022.08.008] [Reference Citation Analysis]
2 Marek-yagel D, Abudi-sinreich S, Macarov M, Veber A, Shalva N, Philosoph AM, Pode-shakked B, Malicdan MCV, Anikster Y. Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene. Front Genet 2022;13:936064. [DOI: 10.3389/fgene.2022.936064] [Reference Citation Analysis]
3 Chen C, Wang R, Yuan Y, Li J, Yu X. Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome. Genes 2022;13:1283. [DOI: 10.3390/genes13071283] [Reference Citation Analysis]
4 Chen J, Yang Y, Liu B, Xie X, Li W. Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents—A case study. Front Pediatr 2022;10:914243. [DOI: 10.3389/fped.2022.914243] [Reference Citation Analysis]
5 Neuffer SJ, Cooper CD. Zebrafish Syndromic Albinism Models as Tools for Understanding and Treating Pigment Cell Disease in Humans. Cancers (Basel) 2022;14:1752. [PMID: 35406524 DOI: 10.3390/cancers14071752] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Bourguignon A, Tasneem S, Hayward CP. Screening and diagnosis of inherited platelet disorders. Crit Rev Clin Lab Sci 2022;:1-40. [PMID: 35341454 DOI: 10.1080/10408363.2022.2049199] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
7 Boeckelmann D, Wolter M, Neubauer K, Sobotta F, Lenz A, Glonnegger H, Käsmann-kellner B, Mann J, Ehl S, Zieger B. Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7). Front Pharmacol 2022;12:786937. [DOI: 10.3389/fphar.2021.786937] [Reference Citation Analysis]
8 Boeckelmann D, Glonnegger H, Sandrock-Lang K, Zieger B. Pathogenic Aspects of Inherited Platelet Disorders. Hamostaseologie 2021;41:460-8. [PMID: 34942659 DOI: 10.1055/a-1665-6249] [Reference Citation Analysis]
9 Kanduc D. Thromboses and Hemostasis Disorders Associated with COVID-19: The Possible Causal Role of Cross-Reactivity and Immunological Imprinting. Glob Med Genet 2021;8:162-70. [PMID: 34877574 DOI: 10.1055/s-0041-1731068] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
10 Steen EA, Hermiston ML, Nichols KE, Meyer LK. Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis. Front Immunol 2021;12:777851. [PMID: 34868048 DOI: 10.3389/fimmu.2021.777851] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
11 Bentley-DeSousa A, Downey M. Vtc5 Is Localized to the Vacuole Membrane by the Conserved AP-3 Complex to Regulate Polyphosphate Synthesis in Budding Yeast. mBio 2021;12:e0099421. [PMID: 34544285 DOI: 10.1128/mBio.00994-21] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
12 Wang ZX, Liu YH, Dong Y, Li YL, Tang TY, Fan LL. Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome. Biomed Res Int 2021;2021:4535349. [PMID: 34608437 DOI: 10.1155/2021/4535349] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
13 Boeckelmann D, Wolter M, Käsmann-Kellner B, Koehler U, Schieber-Nakamura L, Zieger B. A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies. Cells 2021;10:2630. [PMID: 34685610 DOI: 10.3390/cells10102630] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
14 Shin J, Nile A, Oh JW. Role of adaptin protein complexes in intracellular trafficking and their impact on diseases. Bioengineered 2021;12:8259-78. [PMID: 34565296 DOI: 10.1080/21655979.2021.1982846] [Reference Citation Analysis]
15 Laukner A, Truchet L, Manukjan G, Schulze H, Langbein-Detsch I, Mueller E, Leeb T, Kehl A. Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs. Genes (Basel) 2021;12:1092. [PMID: 34356108 DOI: 10.3390/genes12071092] [Reference Citation Analysis]
16 Dumitrescu AV, Tran J, Pfeifer W, Bhattarai SV, Kemerley A, Dunn TV, Wang K, Scheetz TE, Drack A. Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism. Ophthalmic Genet 2021;:1-14. [PMID: 34251969 DOI: 10.1080/13816810.2021.1933544] [Reference Citation Analysis]
17 Kapferer-seebacher I, Foradori L, Zschocke J, Schilke R. Rare Genetic Disorders Affecting the Periodontal Supporting Tissues in Adolescence. Front Dent Med 2021;2:687510. [DOI: 10.3389/fdmed.2021.687510] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
18 Testa LC, Jule Y, Lundh L, Bertotti K, Merideth MA, O'Brien KJ, Nathan SD, Venuto DC, El-Chemaly S, Malicdan MCV, Gochuico BR. Automated Digital Quantification of Pulmonary Fibrosis in Human Histopathology Specimens. Front Med (Lausanne) 2021;8:607720. [PMID: 34211981 DOI: 10.3389/fmed.2021.607720] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
19 Zhong Z, Wu Z, Zhang J, Chen J. A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption. Pigment Cell Melanoma Res 2021. [PMID: 34058075 DOI: 10.1111/pcmr.12995] [Cited by in F6Publishing: 3] [Reference Citation Analysis]
20 Baijal K, Downey M. The promises of lysine polyphosphorylation as a regulatory modification in mammals are tempered by conceptual and technical challenges. Bioessays 2021;43:e2100058. [PMID: 33998006 DOI: 10.1002/bies.202100058] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
21 Palma-Barqueros V, Revilla N, Sánchez A, Zamora Cánovas A, Rodriguez-Alén A, Marín-Quílez A, González-Porras JR, Vicente V, Lozano ML, Bastida JM, Rivera J. Inherited Platelet Disorders: An Updated Overview. Int J Mol Sci 2021;22:4521. [PMID: 33926054 DOI: 10.3390/ijms22094521] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 10.0] [Reference Citation Analysis]
22 Wang C, Shi P, Li Q, Chen C, Zhao X, Zhang R, Kong X. Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6. Eur J Med Genet 2021;64:104228. [PMID: 33878481 DOI: 10.1016/j.ejmg.2021.104228] [Reference Citation Analysis]
23 Chan HW, Schiff ER, Tailor VK, Malka S, Neveu MM, Theodorou M, Moosajee M. Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism. Genes (Basel) 2021;12:508. [PMID: 33808351 DOI: 10.3390/genes12040508] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
24 Kessel L, Kjer B, Lei U, Duno M, Grønskov K. Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism. Ophthalmic Genet 2021;42:230-8. [PMID: 33612058 DOI: 10.1080/13816810.2021.1881979] [Cited by in Crossref: 1] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
25 Cuevas-Mora K, Roque W, Shaghaghi H, Gochuico BR, Rosas IO, Summer R, Romero F. Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung. Respir Res 2021;22:49. [PMID: 33557836 DOI: 10.1186/s12931-021-01640-z] [Cited by in Crossref: 1] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
26 Liu T, Yuan Y, Bai D, Yao X, Zhang T, Huang Q, Qi Z, Yang L, Yang X, Li W, Wei A. The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population. J Dermatol 2021;48:676-80. [PMID: 33543539 DOI: 10.1111/1346-8138.15762] [Cited by in F6Publishing: 4] [Reference Citation Analysis]
27 Yokoyama T, Gochuico BR. Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease. Eur Respir Rev 2021;30:200193. [PMID: 33536261 DOI: 10.1183/16000617.0193-2020] [Cited by in Crossref: 2] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
28 Nurden P, Stritt S, Favier R, Nurden AT. Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. Haematologica 2021;106:337-50. [PMID: 33147934 DOI: 10.3324/haematol.2020.248153] [Cited by in Crossref: 4] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
29 Fukuda M. Rab GTPases: Key players in melanosome biogenesis, transport, and transfer. Pigment Cell Melanoma Res 2021;34:222-35. [PMID: 32997883 DOI: 10.1111/pcmr.12931] [Cited by in Crossref: 1] [Cited by in F6Publishing: 8] [Article Influence: 0.5] [Reference Citation Analysis]
30 Strunz T, Kiel C, Sauerbeck BL, Weber BHF. Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration. Cells 2020;9:E2267. [PMID: 33050425 DOI: 10.3390/cells9102267] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
31 Okamura K, Suzuki T. Current landscape of Oculocutaneous Albinism in Japan. Pigment Cell Melanoma Res 2021;34:190-203. [PMID: 32969595 DOI: 10.1111/pcmr.12927] [Cited by in Crossref: 3] [Cited by in F6Publishing: 7] [Article Influence: 1.5] [Reference Citation Analysis]
32 Liu T, Yuan Y, Bai D, Qi Z, Yang L, Zhang T, Yang X, Li W, Wei A. Genetic variants and mutational spectrum of Chinese Hermansky–Pudlak syndrome patients. Pigment Cell Melanoma Res 2021;34:111-21. [DOI: 10.1111/pcmr.12916] [Cited by in Crossref: 4] [Cited by in F6Publishing: 8] [Article Influence: 2.0] [Reference Citation Analysis]
33 Dupuis A, Bordet JC, Eckly A, Gachet C. Platelet δ-Storage Pool Disease: An Update. J Clin Med 2020;9:E2508. [PMID: 32759727 DOI: 10.3390/jcm9082508] [Cited by in Crossref: 8] [Cited by in F6Publishing: 16] [Article Influence: 4.0] [Reference Citation Analysis]
34 Pennamen P, Tingaud‐sequeira A, Michaud V, Morice‐picard F, Plaisant C, Vincent‐delorme C, Giuliano F, Azarnoush S, Capri Y, Marçon C, Lacombe D, Lasseaux E, Arveiler B. Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome. Pigment Cell Melanoma Res 2021;34:132-5. [DOI: 10.1111/pcmr.12915] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
35 Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Picard FM, Delobel B, Marks MS, Arveiler B. BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. Genet Med 2020;22:1613-22. [PMID: 32565547 DOI: 10.1038/s41436-020-0867-5] [Cited by in Crossref: 18] [Cited by in F6Publishing: 28] [Article Influence: 9.0] [Reference Citation Analysis]