Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

@article{Kim2017LocalizedTA,
  title={Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans},
  author={Sharon Kim and Stephen R F Twigg and Victoria A Scanlon and Aditi Chandra and Tyler J. Hansen and Arwa Alsubait and Aim{\'e}e L. Fenwick and Simon J. McGowan and Helen Lord and Tracy Lester and Elizabeth M. Sweeney and Astrid P Weber and Helen Cox and Andrew O. M. Wilkie and Andy Golden and Ann K. Corsi},
  journal={Human Molecular Genetics},
  year={2017},
  volume={26},
  pages={2118–2132}
}
Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders. Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding… Expand
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution
TLDR
A male infant with the distinctive facial features of ablepharon, hypertelorism, cheek pads adjacent to the corners of the mouth, and bilateral coronal suture craniosynostosis who had a de novo heterozygous mutation in the basic domain of TWIST1 is document. Expand
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
TLDR
A pipeline that uses Caenorhabditis elegans as a genetic model to screen for phenotype-changing missense alleles inferred from human ASD studies is designed, indicating that certain missense variants in the C. elegans orthologs of human CACNA1D, CHD7,CHD8, CUL3, DLG4, GLRA2, NAA15, PTEN, SYNGAP1 and TPH2 impact neurodevelopment and movement functions. Expand
Specific missense mutations in FGFR 2 , p . ( Ser 252 Trp ) and p . ( Pro 253 Arg ) , can lead to the autosomal dominant Apert syndrome ( OMIM 101200 ) [
In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57Expand
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  • A. Golden
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In this review, a few examples of how suppressor screens in model organisms can identify new genes that function in a conserved pathway in many other organisms are given and how the identification of such genes can lead to important insights into mammalian biology. Expand
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Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome.
TLDR
The case of a pediatric patient with a clinical diagnosis of Barber-Say syndrome with ocular symptoms related to exposure keratitis is presented, and molecular analysis of her DNA revealed a mutation on TWIST2 gene confirming the diagnosis. Expand
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