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- W3126394444 endingPage "147283" @default.
- W3126394444 startingPage "147283" @default.
- W3126394444 abstract "The paired-box 6 (PAX6) gene encodes a highly conserved transcription factor essential for the proper development of the eye and brain. Heterozygous loss-of-function mutations in PAX6 are causal for a condition known as aniridia in humans and the Small eye phenotype in mice. Aniridia is characterized by iris hypoplasia and other ocular abnormalities, but recent evidence of neuroanatomical, sensory, and cognitive impairments in this population has emerged, indicating brain-related phenotypes as a prevalent feature of the disorder. Determining the neurophysiological origins of brain-related phenotypes in this disorder presents a substantial challenge, as the majority of extra-ocular traits in aniridia demonstrate a high degree of heterogeneity. Here, we summarize and integrate findings from human and rodent model studies, which have focused on neuroanatomical and functional consequences of PAX6 mutations. We highlight novel findings from PAX6 central nervous system studies in adult mammals, and integrate these findings into what we know about PAX6's role in development of the central nervous system. This review presents the current literature in the field in order to inform clinical application, discusses what is needed in future studies, and highlights PAX6 as a lens through which to understand genetic disorders affecting the human nervous system." @default.
- W3126394444 created "2021-02-15" @default.
- W3126394444 creator A5005773282 @default.
- W3126394444 creator A5026735830 @default.
- W3126394444 creator A5084571178 @default.
- W3126394444 creator A5087803611 @default.
- W3126394444 date "2021-04-01" @default.
- W3126394444 modified "2023-10-09" @default.
- W3126394444 title "Structural and functional consequences of PAX6 mutations in the brain: Implications for aniridia" @default.
- W3126394444 cites W1544789027 @default.
- W3126394444 cites W1607896501 @default.
- W3126394444 cites W1613795242 @default.
- W3126394444 cites W1920714556 @default.
- W3126394444 cites W1933799138 @default.
- W3126394444 cites W1964761197 @default.
- W3126394444 cites W1964784784 @default.
- W3126394444 cites W1964872796 @default.
- W3126394444 cites W1968339279 @default.
- W3126394444 cites W1979451137 @default.
- W3126394444 cites W1980088975 @default.
- W3126394444 cites W1981547140 @default.
- W3126394444 cites W1983511114 @default.
- W3126394444 cites W1986772154 @default.
- W3126394444 cites W1988037565 @default.
- W3126394444 cites W1989934808 @default.
- W3126394444 cites W1995417282 @default.
- W3126394444 cites W1998167315 @default.
- W3126394444 cites W2000955502 @default.
- W3126394444 cites W2006846278 @default.
- W3126394444 cites W2012203291 @default.
- W3126394444 cites W2015765031 @default.
- W3126394444 cites W2017954097 @default.
- W3126394444 cites W2019432665 @default.
- W3126394444 cites W2023497062 @default.
- W3126394444 cites W2024914489 @default.
- W3126394444 cites W2027886945 @default.
- W3126394444 cites W2031188043 @default.
- W3126394444 cites W2033090591 @default.
- W3126394444 cites W2033690523 @default.
- W3126394444 cites W2035850583 @default.
- W3126394444 cites W2039376144 @default.
- W3126394444 cites W2043218606 @default.
- W3126394444 cites W2045462596 @default.
- W3126394444 cites W2045756395 @default.
- W3126394444 cites W2046060229 @default.
- W3126394444 cites W2059605036 @default.
- W3126394444 cites W2060484473 @default.
- W3126394444 cites W2065911402 @default.
- W3126394444 cites W2066132043 @default.
- W3126394444 cites W2066699807 @default.
- W3126394444 cites W2067244408 @default.
- W3126394444 cites W2075521237 @default.
- W3126394444 cites W2075560840 @default.
- W3126394444 cites W2077423081 @default.
- W3126394444 cites W2084557287 @default.
- W3126394444 cites W2087417530 @default.
- W3126394444 cites W2088704425 @default.
- W3126394444 cites W2090268833 @default.
- W3126394444 cites W2091858601 @default.
- W3126394444 cites W2093028191 @default.
- W3126394444 cites W2093075439 @default.
- W3126394444 cites W2096679749 @default.
- W3126394444 cites W2102066606 @default.
- W3126394444 cites W2111559291 @default.
- W3126394444 cites W2116393117 @default.
- W3126394444 cites W2118161962 @default.
- W3126394444 cites W2118712914 @default.
- W3126394444 cites W2120272758 @default.
- W3126394444 cites W2131674676 @default.
- W3126394444 cites W2131915737 @default.
- W3126394444 cites W2134413846 @default.
- W3126394444 cites W2135064842 @default.
- W3126394444 cites W2150129913 @default.
- W3126394444 cites W2151360491 @default.
- W3126394444 cites W2151941355 @default.
- W3126394444 cites W2152142189 @default.
- W3126394444 cites W2157062249 @default.
- W3126394444 cites W2163008799 @default.
- W3126394444 cites W2170486694 @default.
- W3126394444 cites W2171508208 @default.
- W3126394444 cites W2184436455 @default.
- W3126394444 cites W2201975485 @default.
- W3126394444 cites W2288579995 @default.
- W3126394444 cites W2337288008 @default.
- W3126394444 cites W2344849204 @default.
- W3126394444 cites W2470643774 @default.
- W3126394444 cites W2792949448 @default.
- W3126394444 cites W2887827906 @default.
- W3126394444 cites W2893526875 @default.
- W3126394444 cites W2894239944 @default.
- W3126394444 cites W2951859448 @default.
- W3126394444 cites W2986886534 @default.
- W3126394444 cites W2996196773 @default.
- W3126394444 cites W3003682012 @default.
- W3126394444 cites W4210992355 @default.
- W3126394444 cites W4243969377 @default.
- W3126394444 cites W4320300899 @default.
- W3126394444 cites W4323238746 @default.