• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.4
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• pp.713-717
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• 2008

Albinism is a disease caused by partial or complete failure of melanin production in the skin, hair and eyes despite the presence of normal number, structure and distribution of melanocytes. Typical aspects are white-colored skin, blonde-brown hair, blue-brown irides and a prominent red reflex. Three main categories of albinism are oculocutaneous, ocular and localized albinism, and also they are divided into many subgroups. Therefore, appropriate treatment plan and dental direction would be differentiated according to them. This case report was about oral conditions and treatment of the oculocutaneous albinism patient with mental retardation who was refered due to developmental delay of teeth and treated with teeth extraction, restoration and space maintenance etc.

• Korean Journal of Ichthyology
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• v.20 no.3
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• pp.167-172
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• 2008

The Korean bitterling, Acheilognathus signifer (Osteichthyes Cyprinidae), is an endemic and endangered species in Korea. During developmental stages, a small number of oculocutaneous albinism (with colorless body and eyeballs) were observed in the species. In order to investigate histological differences between normal and albinic bitterling, the dorsal skin and choroid-retina of the eyes were taken. The skin and eyes of normal and albino bitterling were similar in structure except for the presence or density of pigment cells. In normal bitterling, the epidermal melanocytes and dermal melanophores were abundantly developed in both the skin and epidermis of the eyes. But in the albino, the dorsal skin had few melanins, and the pigment cells over the choroid-retina pigment epithelium and iris of the eye were very small.

• Korean Journal of Ichthyology
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• v.21 no.2
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• pp.100-105
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• 2009

Histological study of normal and albinic catfish Silurus asotus produced in aquaculture has been carried out on organs such as the eye, the barbel, the dorsal fin, and the skin (including dorsal, ventral and lateral regions). Although individuals have no differences in morphological appearance, their colors showed clear difference as follows: the normal catfishes were black overall, but the albinic ones have a yellowish-white color over the whole body, red eyes and white barbels. All the organs investigated were fundamentally very similar in structure. Regarding the distribution and density of the melanin pigments, however, the albinic catfish have no melanin in the skin and eye, particularly in the basement membrane of the epidermis and the pigment epithelial layer in the retina, while the normal catfish have lots of melanin. This phenomenon may coincide with the so-called $i^1/i^1$ type of oculocutaneous albinism.

• Journal of Yeungnam Medical Science
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• v.38 no.2
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• pp.160-164
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• 2021

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the clinical features of OCA. Here, we report a new type of OCA in two, unrelated Korean families with the same OCA2 mutation. Affected individuals in this study are different from those of previous reports in two aspects: an inheritance pattern and clinical presentation. All reported patients with OCA have shown an autosomal recessive inheritance pattern, while our patients showed an autosomal dominant inheritance pattern. Small amounts of pigment can be acquired with age in OCA, but there is no substantial variation from adolescence to adulthood in this regard. A case where the patient attained normal pigmentation levels has never been reported. However, our patients displayed completely normal pigmentation in their late twenties. Whole exome sequencing and in-silico analysis revealed a novel mutation, OCA2 c.2338G>A p.(G780S) (NM_000275) with a high likelihood of pathogenicity. Sanger sequencing of p.G780S identified the same mutation in the affected individuals, which was not found in the family members with normal phenotype. We hypothesize that OCA2 G780S not only acts as a pathogenic variant of OCA but also induces pigmentation by enhancing the melanogenesis gene expression of other modifier genes, such as SLC45A2 and TPC2. These findings may provide further understanding of melanin biosynthesis and new treatment methods for OCA.

• Korean Journal of Veterinary Service
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• v.29 no.4
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• pp.489-492
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• 2006

Albinism, characterized by absence or lack of pigmentation from the hair, skin, hooves, nasal region and the eyes is rarely seen in cattle in Korea. A 15-day old calf, approximately weighing 28 kg has been conspicuously distinct from the rest of 40 herds of cattle raised in Sunchang country because of its white coat color, white muzzle and hooves and eyes with light pinkish iris. The calf was born of Korean indigenous cattle with no previously reported history of albinism since inception of the farm for over a decade period. It was assumed as a form of recessive genetic disorder. This observation was documented to present occurrence of albinism in cattle in Korea.

• Korean Journal of Ichthyology
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• v.22 no.2
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• pp.96-104
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• 2010

During an artificial breeding as a part of restoration of the endangered Korean bitterling Acheilognathus signifer, a small number of individuals exhibiting oculocutaneous albinism were produced. We compared the pigmentation and morphology of normal and albinic bitterlings by histological examination of skin samples obtained from 10 regions on the body, fins, and eyes. There were no differences in morphometry and in general morphology of skin between them. In normal bitterlings, pigment cells were better developed in the dorsal region, the upper part of caudal peduncle region, the choroid-retinal epithelium and iris than in other areas. In the albinic bitterling, however, pigment cells were present only in three parts of the dorsal region, the caudal and dorsal fin, which had few melanin cells. Albinic bitterlings also displayed deficient pigmentation in the choroid-retina pigment epithelium and iris. Although they had different pigmentation aspects in distribution and development between normal and albinic bitterlings, melanin cells were mainly present in the dorsal regions of the skin and eyes where are exposed directly to light.

• Pediatric Infection and Vaccine
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• v.31 no.1
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• pp.122-129
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• 2024

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia.

• Molecules and Cells
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• v.39 no.10
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• pp.750-755
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• 2016

Although innate color preference of motile organisms may provide clues to behavioral biases, it has remained a longstanding question. In this study, we investigated innate color preference of zebrafish larvae. A cross maze with different color sleeves around each arm was used for the color preference test (R; red, G; green, B; blue, Y; yellow). The findings showed that 5 dpf zebrafish larvae preferred blue over other colors (B > R > G > Y). To study innate color recognition further, tyrosinase mutants were generated using CRISPR/Cas9 system. As a model for oculocutaneous albinism (OCA) and color vision impairment, tyrosinase mutants demonstrated diminished color sensation, indicated mainly by hypopigmentation of the retinal pigment epithelium (RPE). Due to its relative simplicity and ease, color preference screening using zebrafish larvae is suitable for high-throughput screening applications. This system may potentially be applied to the analysis of drug effects on larval behavior or the detection of sensory deficits in neurological disorder models, such as autism-related disorders, using mutant larvae generated by the CRISPR/Cas9 technique.

• Molecules and Cells
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• v.40 no.11
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• pp.823-827
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• 2017

Genome editing using programmable nucleases such as CRISPR/Cas9 or Cpf1 has emerged as powerful tools for gene knock-out or knock-in in various organisms. While most genetic diseases are caused by point mutations, these genome-editing approaches are inefficient in inducing single-nucleotide substitutions. Recently, Cas9-linked cytidine deaminases, named base editors (BEs), have been shown to convert cytidine to uridine efficiently, leading to targeted single-base pair substitutions in human cells and organisms. Here, we first report on the generation of Xenopus laevis mutants with targeted single-base pair substitutions using this RNA-guided programmable deaminase. Injection of base editor 3 (BE3) ribonucleoprotein targeting the tyrosinase (tyr) gene in early embryos can induce site-specific base conversions with the rates of up to 20.5%, resulting in oculocutaneous albinism phenotypes without off-target mutations. We further test this base-editing system by targeting the tp53 gene with the result that the expected single-base pair substitutions are observed at the target site. Collectively, these data establish that the programmable deaminases are efficient tools for creating targeted point mutations for human disease modeling in Xenopus.