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- W1880346534 abstract "The evolutionarily conserved transmembrane anterior posterior transformation 1 protein, encoded by TAPT1, is involved in murine axial skeletal patterning, but its cellular function remains unknown. Our study demonstrates that TAPT1 mutations underlie a complex congenital syndrome, showing clinical overlap between lethal skeletal dysplasias and ciliopathies. This syndrome is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. We establish that wild-type TAPT1 localizes to the centrosome and/or ciliary basal body, whereas defective TAPT1 mislocalizes to the cytoplasm and disrupts Golgi morphology and trafficking and normal primary cilium formation. Knockdown of tapt1b in zebrafish induces severe craniofacial cartilage malformations and delayed ossification, which is shown to be associated with aberrant differentiation of cranial neural crest cells." @default.
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- W1880346534 date "2015-10-01" @default.
- W1880346534 modified "2023-10-15" @default.
- W1880346534 title "Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia" @default.
- W1880346534 cites W1503876310 @default.
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- W1880346534 cites W1963721371 @default.
- W1880346534 cites W1975249765 @default.
- W1880346534 cites W1978162436 @default.
- W1880346534 cites W1982780435 @default.
- W1880346534 cites W1983158422 @default.
- W1880346534 cites W1983256487 @default.
- W1880346534 cites W1987149071 @default.
- W1880346534 cites W1995401177 @default.
- W1880346534 cites W1999002383 @default.
- W1880346534 cites W1999984298 @default.
- W1880346534 cites W2004633696 @default.
- W1880346534 cites W2012270282 @default.
- W1880346534 cites W2012765331 @default.
- W1880346534 cites W2015512714 @default.
- W1880346534 cites W2015765825 @default.
- W1880346534 cites W2016252499 @default.
- W1880346534 cites W2017224987 @default.
- W1880346534 cites W2019413671 @default.
- W1880346534 cites W2019555020 @default.
- W1880346534 cites W2022607859 @default.
- W1880346534 cites W2027604326 @default.
- W1880346534 cites W2044569708 @default.
- W1880346534 cites W2053188090 @default.
- W1880346534 cites W2056967728 @default.
- W1880346534 cites W2059598606 @default.
- W1880346534 cites W2059847307 @default.
- W1880346534 cites W2065748477 @default.
- W1880346534 cites W2069566684 @default.
- W1880346534 cites W2084691568 @default.
- W1880346534 cites W2091760375 @default.
- W1880346534 cites W2093400989 @default.
- W1880346534 cites W2095726466 @default.
- W1880346534 cites W2096251733 @default.
- W1880346534 cites W2099481056 @default.
- W1880346534 cites W2100365118 @default.
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- W1880346534 cites W2108274213 @default.
- W1880346534 cites W2120644844 @default.
- W1880346534 cites W2121554092 @default.
- W1880346534 cites W2126845725 @default.
- W1880346534 cites W2132123037 @default.
- W1880346534 cites W2136336124 @default.
- W1880346534 cites W2136634912 @default.
- W1880346534 cites W2137564027 @default.
- W1880346534 cites W2138415257 @default.
- W1880346534 cites W2141773897 @default.
- W1880346534 cites W2142952274 @default.
- W1880346534 cites W2145307125 @default.
- W1880346534 cites W2146586155 @default.
- W1880346534 cites W2147016321 @default.
- W1880346534 cites W2151018720 @default.
- W1880346534 cites W2152506486 @default.
- W1880346534 cites W2159055793 @default.
- W1880346534 cites W2164493723 @default.
- W1880346534 cites W2164556807 @default.
- W1880346534 cites W2165400076 @default.
- W1880346534 cites W2166837353 @default.
- W1880346534 cites W2169875730 @default.
- W1880346534 cites W2401201457 @default.
- W1880346534 cites W4231857508 @default.
- W1880346534 cites W4246217303 @default.
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- W1880346534 doi "https://doi.org/10.1016/j.ajhg.2015.08.009" @default.
- W1880346534 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4596895" @default.
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- W1880346534 hasPublicationYear "2015" @default.
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