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Year Number of Results
1894 1
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1908 1
1909 1
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1915 4
1921 1
1924 1
1926 1
1930 1
1931 1
1938 1
1944 1
1946 5
1947 6
1948 5
1949 4
1950 9
1951 11
1952 10
1953 6
1954 3
1955 4
1956 15
1957 9
1958 10
1959 14
1960 16
1961 17
1962 20
1963 24
1964 46
1965 34
1966 18
1967 27
1968 39
1969 48
1970 55
1971 77
1972 86
1973 77
1974 70
1975 95
1976 85
1977 71
1978 103
1979 68
1980 83
1981 81
1982 77
1983 81
1984 79
1985 86
1986 78
1987 69
1988 71
1989 80
1990 97
1991 88
1992 119
1993 114
1994 96
1995 93
1996 93
1997 84
1998 81
1999 93
2000 114
2001 108
2002 92
2003 103
2004 110
2005 125
2006 110
2007 125
2008 102
2009 138
2010 112
2011 146
2012 157
2013 185
2014 196
2015 174
2016 172
2017 167
2018 149
2019 191
2020 198
2021 194
2022 179
2023 185
2024 200
2025 178
2026 1

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6,422 results

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Page 1
Albinism: from genetics to cell biology and physiopathology.
Diallo M, Salavessa L, Arveiler B, Delevoye C. Diallo M, et al. Presse Med. 2025 Nov 26:104333. doi: 10.1016/j.lpm.2025.104333. Online ahead of print. Presse Med. 2025. PMID: 41314540
Albinism classically encompasses several forms: oculocutaneous (OCA), ocular (OA1 and Foveal hypoplasia optic nerve decussation defect anterior segment dysgenesis syndrome [FHONDA]), and syndromic (Hermansky-Pudlak syndrome [HPS], Chediak-Higashi syndrome [CHS]), with all …
Albinism classically encompasses several forms: oculocutaneous (OCA), ocular (OA1 and Foveal hypoplasia optic nerve decussation defec …
Recent advances in albinism.
Morice-Picard F, Diallo M, Arveiler B. Morice-Picard F, et al. Presse Med. 2025 Nov 26:104332. doi: 10.1016/j.lpm.2025.104332. Online ahead of print. Presse Med. 2025. PMID: 41314539
Although it has been described for a long time, albinism remains poorly understood in many aspects. The clinical presentation is very different between subtypes of the disease and even within a single subtype. ...This review relates to the most recent advances in the field …
Although it has been described for a long time, albinism remains poorly understood in many aspects. The clinical presentation is very …
Albinism: management and care of ophthalmological manifestations.
Rateaux M, Bremond-Gignac D, Robert MP. Rateaux M, et al. Presse Med. 2025 Nov 26:104334. doi: 10.1016/j.lpm.2025.104334. Online ahead of print. Presse Med. 2025. PMID: 41314538 Free article.
Albinism is a heterogeneous disorder characterized by both dermatological and ophthalmological expressions. In ophthalmological practice, patients with albinism frequently present with nystagmus and reduced visual acuity, the diagnosis having been made previously on …
Albinism is a heterogeneous disorder characterized by both dermatological and ophthalmological expressions. In ophthalmological pract …
Genome editing of a low-penetrance albinism-associated variant in TYR in patient-derived pluripotent stem cells.
Downton P, Bates N, Woods S, Adamson A, Sergouniotis PI. Downton P, et al. Stem Cell Res. 2025 Oct 22;89:103855. doi: 10.1016/j.scr.2025.103855. Online ahead of print. Stem Cell Res. 2025. PMID: 41308567 Free article.
Notably, when this variant is encountered in specific haplotypic backgrounds in the homozygous state, it predisposes to albinism. We generated an induced pluripotent stem cell (iPSC) line from an affected individual carrying such a homozygous genotype (UMANi255-A), and the …
Notably, when this variant is encountered in specific haplotypic backgrounds in the homozygous state, it predisposes to albinism. We …
Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.
Okamura K, Saito T, Oiso N, Sekiguchi A, Motegi SI, Hara Y, Komine M, Kudo K, Noguchi A, Oshimo T, Shibuya M, Miyano K, Hoshina T, Itokawa M, Masui Y, Otaki K, Hozumi Y, Suzuki T. Okamura K, et al. Pigment Cell Melanoma Res. 2025 Nov;38(6):e70066. doi: 10.1111/pcmr.70066. Pigment Cell Melanoma Res. 2025. PMID: 41292147
We present an updated analysis of albinism in Japan, encompassing both oculocutaneous albinism (OCA) and ocular albinism (OA), based on 290 families, which expands our previous study by 100 additional families. ...These findings expand the variant spectrum of …
We present an updated analysis of albinism in Japan, encompassing both oculocutaneous albinism (OCA) and ocular albinism …
Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation.
Dolinska MB, Wang Y, Coussens NP, Kalaskar VK, Eraslan Z, Grondin SJ, Bonica J, Toay S, Hall MD, Shen M, Boxer M, Chen Q, Gross SS, Attarwala N, Jittayasothorn Y, Alur RP, Shukla D, Kee R, DeYoung C, Sha C, Adams DR, Loftus S, Cogliati T, Sergeev YV, Zippin JH, Brooks BP. Dolinska MB, et al. bioRxiv [Preprint]. 2025 Oct 15:2025.10.13.682036. doi: 10.1101/2025.10.13.682036. bioRxiv. 2025. PMID: 41279351 Free PMC article. Preprint.
Ampyrone increased the in vitro catalytic activity of the intramelanosomal domain of human TYR (hTYR) and its hypomorphic variant, P406L, a cause of oculocutaneous albinism type 1B (OCA1B). Moreover, ampyrone induced melanin synthesis in both wild-type and OCA1B human mela …
Ampyrone increased the in vitro catalytic activity of the intramelanosomal domain of human TYR (hTYR) and its hypomorphic variant, P406L, a …
Analysis of multi-trait evolution across independently evolved cavefish populations reveals shared and independent evolution of suites of cave-associated traits.
Choy S, Enriquez M, Ambosie R, Manning AE, Mullin BF, Rodriguez-Morales R, Abdelaziz J, Jacobson S, Lloyd E, Kimmel A, Lapko S, Carino-Bazan I, Bilandžija H, Keene AC, Duboue E, McGaugh S, Kowalko JE. Choy S, et al. bioRxiv [Preprint]. 2025 Oct 23:2025.10.22.683983. doi: 10.1101/2025.10.22.683983. bioRxiv. 2025. PMID: 41278669 Free PMC article. Preprint.
Finally, we assessed traits that differ between pigmented and albino F2 fish in surface fish with mutations in the albinism gene oculocutaneous albinism 2 (oca2). This revealed that mutations in oca2 reduce bottom-dwelling behavior in A. mexicanus. ...
Finally, we assessed traits that differ between pigmented and albino F2 fish in surface fish with mutations in the albinism gene ocul …
A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.
Liu Q, Qing W, Guo S, Wang Y, Chen Y, Liu J. Liu Q, et al. Ther Adv Respir Dis. 2025 Jan-Dec;19:17534666251383677. doi: 10.1177/17534666251383677. Epub 2025 Nov 24. Ther Adv Respir Dis. 2025. PMID: 41277635 Free PMC article. Review.
Here, we present a 38-year-old Chinese woman with oculocutaneous albinism (OCA), bleeding tendency, and progressive pulmonary fibrosis, ultimately diagnosed with HPS through platelet transmission electron microscopy. ...
Here, we present a 38-year-old Chinese woman with oculocutaneous albinism (OCA), bleeding tendency, and progressive pulmonary fibrosi …
Fatal Chronic Varicella-Zoster Viral Infection in a Young Man With Chediak-Higashi Syndrome.
Badet A, Pruvot C, Manssens Z, Abou-Chahla W, Buche S. Badet A, et al. Pediatr Dermatol. 2025 Nov 20. doi: 10.1111/pde.70082. Online ahead of print. Pediatr Dermatol. 2025. PMID: 41262052
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lym …
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism …
Characterization of an Albino Lethal Mutant in Tea Plants: Insights Into Chloroplast Development and Leaf Color Variation.
Dai H, Zhang L, Zhang X, Zhang K, Tong H, Yuan L. Dai H, et al. Physiol Plant. 2025 Nov-Dec;177(6):e70637. doi: 10.1111/ppl.70637. Physiol Plant. 2025. PMID: 41250805
This study provides a detailed characterization of a lethal albino mutant caused by chloroplast development deficiency in tea plants, offering insights into the genetic mechanisms of albinism and setting the stage for future research on leaf color variation and chloroplast …
This study provides a detailed characterization of a lethal albino mutant caused by chloroplast development deficiency in tea plants, offeri …
6,422 results