Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I

[1] Birrane G(2009)Structural basis for DNA recognition by the human pax3 homeodomain Biochemistry 48 1148-1155

[2] Soni A(2000)Interaction among sox10, pax3 and mitf, three genes altered in waardenburg syndrome Hum Mol Genet 9 1907-1917

[3] Ladias JA(2012)Predicting the functional effect of amino acid substitutions and indels PLoS ONE 7 e46688-438

[4] Bondurand N(2005)Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations Pigment Cell Res 18 427-2650

[5] Pingault V(1996)Cooperative interactions between paired domain and homeodomain Development (Camb Engl) 122 2639-645

[6] Goerich DE(2008)Pigmentation pax-ways: the role of pax3 in melanogenesis, melanocyte stem cell maintenance, and disease Pigment Cell Melanoma Res 21 627-366

[7] Lemort N(2018)Identification and functional analysis of a novel mutation in the pax3 gene associated with waardenburg syndrome type i Gene 642 362-406

[8] Sock E(2010)Review and update of mutations causing waardenburg syndrome Hum Mutat 31 391-665

[9] Le Caignec C(1997)Waardenburg syndrome J Med Genet 34 656-362

[10] Wegner M(2014)Mutationtaster2: Mutation prediction for the deep-sequencing age Nat Methods 11 361-41

[1] Birrane G(2009)Structural basis for DNA recognition by the human pax3 homeodomain Biochemistry 48 1148-1155

[2] Soni A(2000)Interaction among sox10, pax3 and mitf, three genes altered in waardenburg syndrome Hum Mol Genet 9 1907-1917

[3] Ladias JA(2012)Predicting the functional effect of amino acid substitutions and indels PLoS ONE 7 e46688-438

[4] Bondurand N(2005)Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations Pigment Cell Res 18 427-2650

[5] Pingault V(1996)Cooperative interactions between paired domain and homeodomain Development (Camb Engl) 122 2639-645

[6] Goerich DE(2008)Pigmentation pax-ways: the role of pax3 in melanogenesis, melanocyte stem cell maintenance, and disease Pigment Cell Melanoma Res 21 627-366

[7] Lemort N(2018)Identification and functional analysis of a novel mutation in the pax3 gene associated with waardenburg syndrome type i Gene 642 362-406

[8] Sock E(2010)Review and update of mutations causing waardenburg syndrome Hum Mutat 31 391-665

[9] Le Caignec C(1997)Waardenburg syndrome J Med Genet 34 656-362

[10] Wegner M(2014)Mutationtaster2: Mutation prediction for the deep-sequencing age Nat Methods 11 361-41