Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2021 Jan;34(1):10-12.
doi: 10.1111/pcmr.12929. Epub 2020 Nov 5.

HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes

Gema Garrido, Almudena Fernández, Lluis Montoliu
Comment

HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes

Gema Garrido et al. Pigment Cell Melanoma Res. 2021 Jan.
No abstract available

PubMed Disclaimer

Comment on

  • BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
    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. Pennamen P, et al. Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22. Genet Med. 2020. PMID: 32565547 Free PMC article.
  • Dopachrome tautomerase variants in patients with oculocutaneous albinism.
    Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B. Pennamen P, et al. Genet Med. 2021 Mar;23(3):479-487. doi: 10.1038/s41436-020-00997-8. Epub 2020 Oct 26. Genet Med. 2021. PMID: 33100333

References

REFERENCES

    1. Guyonneau, L., Murisier, F., Rossier, A., Moulin, A., & Beermann, F. (2004). Melanocytes and pigmentation are affected in dopachrome tautomerase knockout mice. Molecular and Cellular Biology, 24(8), 3396-3403.
    1. Lasseaux, E., Plaisant, C., Michaud, V., Pennamen, P., Trimouille, A., Gaston, L., Monfermé, S., Lacombe, D., Rooryck, C., Morice-Picard, F., & Arveiler, B. (2018). Molecular characterization of a series of 990 index patients with albinism. Pigment Cell & Melanoma Research, 31(4), 466-474.
    1. Montoliu, L., Grønskov, K., Wei, A. H., Martínez-García, M., Fernández, A., Arveiler, B., Morice-Picard, F., Riazuddin, S., Suzuki, T., Ahmed, Z. M., Rosenberg, T., & Li, W. (2014). Increasing the complexity: New genes and new types of albinism. Pigment Cell & Melanoma Research, 27(1), 11-18.
    1. Montoliu, L., & Marks, M. S. (2017). A new type of syndromic albinism associated with mutations in AP3D1. Pigment Cell & Melanoma Research, 30(1), 5-7.
    1. Seruggia, D., Fernández, A, Cantero, M., Fernández-Miñán, A., Gomez-Skarmeta, J. L., Pelczar, P., Montoliu, L. (2020). Boundary sequences flanking the mouse tyrosinase locus ensure faithful pattern of gene expression. Scientific Reports, 10(1), 15494. http://dx.doi.org/10.1038/s41598-020-72543-0

Publication types

LinkOut - more resources