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Page 1
The retinal pigmentation pathway in human albinism: Not so black and white.
Bakker R, Wagstaff EL, Kruijt CC, Emri E, van Karnebeek CDM, Hoffmann MB, Brooks BP, Boon CJF, Montoliu L, van Genderen MM, Bergen AA. Bakker R, et al. Among authors: montoliu l. Prog Retin Eye Res. 2022 Nov;91:101091. doi: 10.1016/j.preteyeres.2022.101091. Epub 2022 Jun 18. Prog Retin Eye Res. 2022. PMID: 35729001 Free article. Review.
We put forward that specific melanosome impairments cause different forms of oculocutaneous albinism (OCA1-8). Further, we incorporate GPR143 that has been implicated in ocular albinism (OA1), characterised by a phenotype limited to the eye. ...The hypotheses put fo …
We put forward that specific melanosome impairments cause different forms of oculocutaneous albinism (OCA1-8). Further, we incorporat …
Albinism in Europe.
Mártinez-García M, Montoliu L. Mártinez-García M, et al. Among authors: montoliu l. J Dermatol. 2013 May;40(5):319-24. doi: 10.1111/1346-8138.12170. J Dermatol. 2013. PMID: 23668539 Review.
Albinism is a rare genetic condition associated with a variable hypopigmentation phenotype, which can affect the pigmentation of only the eyes or both the eyes and the skin/hair, resulting in ocular (OA) or oculocutaneous albinism (OCA), respectively. ...In summary, …
Albinism is a rare genetic condition associated with a variable hypopigmentation phenotype, which can affect the pigmentation of only …
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Among authors: montoliu l. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.

All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA

…

All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a

…
Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
Fernández A, Hayashi M, Garrido G, Montero A, Guardia A, Suzuki T, Montoliu L. Fernández A, et al. Among authors: montoliu l. Pigment Cell Melanoma Res. 2021 Jul;34(4):786-799. doi: 10.1111/pcmr.12982. Epub 2021 May 8. Pigment Cell Melanoma Res. 2021. PMID: 33960688 Review.
Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. ...Syndromic OCA can be more severe and associat …
Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally …
The structure and function of the mouse tyrosinase locus.
Seruggia D, Josa S, Fernández A, Montoliu L. Seruggia D, et al. Among authors: montoliu l. Pigment Cell Melanoma Res. 2021 Mar;34(2):212-221. doi: 10.1111/pcmr.12942. Epub 2020 Nov 5. Pigment Cell Melanoma Res. 2021. PMID: 33098271 Review.
Mutations in the orthologous human TYR gene are associated with oculocutaneous albinism type 1 (OCA1). Over the last thirty years, the mouse Tyr locus has been studied as a paradigm for how genes and expression domains are organized and regulated in mammalian genomes. ...F …
Mutations in the orthologous human TYR gene are associated with oculocutaneous albinism type 1 (OCA1). Over the last thirty years, th …
Increasing the complexity: new genes and new types of albinism.
Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Montoliu L, et al. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17. Pigment Cell Melanoma Res. 2014. PMID: 24066960 Review.
Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair ( …
Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor …
Snowflake, albinism and conservation.
Montoliu L. Montoliu L. Pigment Cell Melanoma Res. 2013 Nov;26(6):786-7. doi: 10.1111/pcmr.12133. Epub 2013 Jul 15. Pigment Cell Melanoma Res. 2013. PMID: 24152041 No abstract available.
Frontiers in pigment cell and melanoma research.
Filipp FV, Birlea S, Bosenberg MW, Brash D, Cassidy PB, Chen S, D'Orazio JA, Fujita M, Goh BK, Herlyn M, Indra AK, Larue L, Leachman SA, Le Poole C, Liu-Smith F, Manga P, Montoliu L, Norris DA, Shellman Y, Smalley KSM, Spritz RA, Sturm RA, Swetter SM, Terzian T, Wakamatsu K, Weber JS, Box NF. Filipp FV, et al. Among authors: montoliu l. Pigment Cell Melanoma Res. 2018 Nov;31(6):728-735. doi: 10.1111/pcmr.12728. Epub 2018 Oct 3. Pigment Cell Melanoma Res. 2018. PMID: 30281213 Free PMC article.
Significantly, this document encapsulates important advances in melanocyte and melanoma research including emerging frontiers in melanoma immunotherapy, medical and surgical oncology, dermatology, vitiligo, albinism, genomics and systems biology, epidemiology, pigment biop …
Significantly, this document encapsulates important advances in melanocyte and melanoma research including emerging frontiers in melanoma im …
A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.
Guardia A, Fernández A, Seruggia D, Chotard V, Sánchez-Castillo C, Kutsyr O, Sánchez-Sáez X, Zurita E, Cantero M, Rebsam A, Cuenca N, Montoliu L. Guardia A, et al. Among authors: montoliu l. Invest Ophthalmol Vis Sci. 2023 Oct 3;64(13):32. doi: 10.1167/iovs.64.13.32. Invest Ophthalmol Vis Sci. 2023. PMID: 37862028 Free PMC article.
PURPOSE: We aimed to generate and phenotype a mouse model of foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA), a rare disease associated with mutations in Slc38a8 that causes severe visual alterations similar to albinism without …
PURPOSE: We aimed to generate and phenotype a mouse model of foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgen …
New animal models to study the role of tyrosinase in normal retinal development.
Lavado A, Montoliu L. Lavado A, et al. Among authors: montoliu l. Front Biosci. 2006 Jan 1;11:743-52. doi: 10.2741/1832. Front Biosci. 2006. PMID: 16146766 Review.
Albino animals display a hypopigmented phenotype associated with several visual abnormalities, including rod photoreceptor cell deficits, abnormal patterns of connections between the eye and the brain and a general underdevelopment of central retina. Oculocutaneous albinism …
Albino animals display a hypopigmented phenotype associated with several visual abnormalities, including rod photoreceptor cell deficits, ab …
25 results