Matches in SemOpenAlex for { <https://semopenalex.org/work/W3088992512> ?p ?o ?g. }
- W3088992512 endingPage "203" @default.
- W3088992512 startingPage "190" @default.
- W3088992512 abstract "Abstract Oculocutaneous albinism (OCA), which is roughly divided into non‐syndromic and syndromic OCA, is a group of autosomal recessive disorders caused by mutations in genes associated with pigmentation. Patients with OCA have hypopigmentation and ocular manifestations such as photophobia, amblyopia, and nystagmus. Hermansky–Pudlak syndrome (HPS), the most common syndromic OCA, is characterized by the additional features of a bleeding tendency and other critical systemic comorbidities such as pulmonary fibrosis and immunodeficiency. NGS‐based gene analyses have identified several new causative genes for OCA and have detected rare subtypes of OCA with high accuracy including Japanese patients. In our survey of 190 Japanese OCA patients/families, OCA4 is the most common subtype (25.3%) followed by OCA1 (20.0%), HPS1 (14.7%), and OCA2 (8.4%). Similar to the A481T variant in OCA2 , which is associated with a mild form of OCA2 and skin color variation, the c.‐492_489delAATG variant located in the promoter region of SLC45A2 has been uniquely identified in Japanese patients with a mild form of OCA4. Further, rare OCA subtypes, including OCA3, HPS2, HPS3, HPS4, HPS5, HPS6, and HPS9, have also been identified in Japanese patients. The clinical characteristics and underlying molecular mechanisms of each subtype of OCA are concisely summarized in this review." @default.
- W3088992512 created "2020-10-01" @default.
- W3088992512 creator A5024654427 @default.
- W3088992512 creator A5056446724 @default.
- W3088992512 date "2020-10-07" @default.
- W3088992512 modified "2023-10-16" @default.
- W3088992512 title "Current landscape of Oculocutaneous Albinism in Japan" @default.
- W3088992512 cites W1481214469 @default.
- W3088992512 cites W1482656728 @default.
- W3088992512 cites W1535022681 @default.
- W3088992512 cites W1550555606 @default.
- W3088992512 cites W1608427033 @default.
- W3088992512 cites W1652725594 @default.
- W3088992512 cites W1901202088 @default.
- W3088992512 cites W1916780560 @default.
- W3088992512 cites W1951418274 @default.
- W3088992512 cites W1957623945 @default.
- W3088992512 cites W1963559953 @default.
- W3088992512 cites W1966442417 @default.
- W3088992512 cites W1970534138 @default.
- W3088992512 cites W1971520686 @default.
- W3088992512 cites W1971887764 @default.
- W3088992512 cites W1971966238 @default.
- W3088992512 cites W1972916674 @default.
- W3088992512 cites W1973511201 @default.
- W3088992512 cites W1978333710 @default.
- W3088992512 cites W1978982003 @default.
- W3088992512 cites W1980237203 @default.
- W3088992512 cites W1981974890 @default.
- W3088992512 cites W1985696079 @default.
- W3088992512 cites W1987628482 @default.
- W3088992512 cites W1992464143 @default.
- W3088992512 cites W2007291915 @default.
- W3088992512 cites W2012153447 @default.
- W3088992512 cites W2012186904 @default.
- W3088992512 cites W2012390968 @default.
- W3088992512 cites W2014307911 @default.
- W3088992512 cites W2017086389 @default.
- W3088992512 cites W2018225172 @default.
- W3088992512 cites W2022275011 @default.
- W3088992512 cites W2023560082 @default.
- W3088992512 cites W2030226370 @default.
- W3088992512 cites W2031240433 @default.
- W3088992512 cites W2032731291 @default.
- W3088992512 cites W2033727288 @default.
- W3088992512 cites W2034737840 @default.
- W3088992512 cites W2041169941 @default.
- W3088992512 cites W2041842284 @default.
- W3088992512 cites W2043284614 @default.
- W3088992512 cites W2043321552 @default.
- W3088992512 cites W2044338521 @default.
- W3088992512 cites W2045642503 @default.
- W3088992512 cites W2046137036 @default.
- W3088992512 cites W2050167909 @default.
- W3088992512 cites W2056355153 @default.
- W3088992512 cites W2060948453 @default.
- W3088992512 cites W2070378102 @default.
- W3088992512 cites W2072566861 @default.
- W3088992512 cites W2075485656 @default.
- W3088992512 cites W2076020270 @default.
- W3088992512 cites W2101295234 @default.
- W3088992512 cites W2106632758 @default.
- W3088992512 cites W2107482604 @default.
- W3088992512 cites W2110817313 @default.
- W3088992512 cites W2114351721 @default.
- W3088992512 cites W2126229360 @default.
- W3088992512 cites W2127776481 @default.
- W3088992512 cites W2137233414 @default.
- W3088992512 cites W2144942220 @default.
- W3088992512 cites W2155385974 @default.
- W3088992512 cites W2155752937 @default.
- W3088992512 cites W2159846425 @default.
- W3088992512 cites W2162925824 @default.
- W3088992512 cites W2165553851 @default.
- W3088992512 cites W2166765997 @default.
- W3088992512 cites W2167344112 @default.
- W3088992512 cites W2171332720 @default.
- W3088992512 cites W2171407099 @default.
- W3088992512 cites W2213619217 @default.
- W3088992512 cites W2289709356 @default.
- W3088992512 cites W2401792446 @default.
- W3088992512 cites W2401846102 @default.
- W3088992512 cites W2411673953 @default.
- W3088992512 cites W2462127274 @default.
- W3088992512 cites W2513237500 @default.
- W3088992512 cites W2531815874 @default.
- W3088992512 cites W2533367163 @default.
- W3088992512 cites W2593381198 @default.
- W3088992512 cites W2630748994 @default.
- W3088992512 cites W2765748788 @default.
- W3088992512 cites W2766588016 @default.
- W3088992512 cites W2792313593 @default.
- W3088992512 cites W2884136979 @default.
- W3088992512 cites W2884415424 @default.
- W3088992512 cites W2900594996 @default.
- W3088992512 cites W2915296231 @default.
- W3088992512 cites W2938811233 @default.
- W3088992512 cites W2944885629 @default.