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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 …
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 …
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.
RESULTS: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). ...All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P …
RESULTS: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%) …
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.
This is a rare genetic condition, known as albinism, described for most animal species and one of the most obvious and simple phenotypes to investigate in model organisms. ...Further, the identification of evolutionary conserved regulatory sequences might highlight new vul …
This is a rare genetic condition, known as albinism, described for most animal species and one of the most obvious and simple phenoty …
Boundary sequences flanking the mouse tyrosinase locus ensure faithful pattern of gene expression.
Seruggia D, Fernández A, Cantero M, Fernández-Miñán A, Gomez-Skarmeta JL, Pelczar P, Montoliu L. Seruggia D, et al. Among authors: montoliu l. Sci Rep. 2020 Sep 23;10(1):15494. doi: 10.1038/s41598-020-72543-0. Sci Rep. 2020. PMID: 32968154 Free PMC article.
Using the mouse tyrosinase (Tyr) locus as an experimental model, a gene whose mutations are associated with albinism, we described the chromatin structure in cells at two distinct transcriptional states. ...
Using the mouse tyrosinase (Tyr) locus as an experimental model, a gene whose mutations are associated with albinism, we described th …
The triennial International Pigment Cell Conference (IPCC).
Box NF, Larue L, Manga P, Montoliu L, Spritz RA, Filipp FV. Box NF, et al. Among authors: montoliu l. J Transl Med. 2018 Oct 3;16(1):252. doi: 10.1186/s12967-018-1609-1. J Transl Med. 2018. PMID: 30285864 Free PMC article.
Important advances showcase wealth and breadth of the field in melanocyte and melanoma research and include emerging frontiers in melanoma immunotherapy, medical and surgical oncology, dermatology, vitiligo, albinism, genomics and systems biology, precision bench-to-bedsid …
Important advances showcase wealth and breadth of the field in melanocyte and melanoma research and include emerging frontiers in melanoma i …
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 …
25 results