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Träfflista för sökning "WFRF:(Grigelioniene G) ;pers:(Tham E.)"

Sökning: WFRF:(Grigelioniene G) > Tham E.

  • Resultat 1-10 av 14
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  • Jacob, P., et al. (författare)
  • Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
  • 2023
  • Ingår i: NPJ GENOMIC MEDICINE. - 2056-7944. ; 8:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasia affecting primarily the lower limbs. The genetic cause was first reported in 2019 by Le Caignec et al., and six disease-causing variants in the gene coding for a ribosomal protein, RPL13 (NM_000977.3) have been identified to date. This study presents clinical and radiographic data from 12 affected individuals aged 2-64 years from seven unrelated families, showing highly variable manifestations. The affected individuals showed a range from mild to severe short stature, retaining the same radiographic pattern of spondylar- and epi-metaphyseal dysplasia, but with varying severity of the hip and knee deformities. Two new missense variants, c.548 G>A, p.(Arg183His) and c.569 G>T, p.(Arg190Leu), and a previously known splice variant c.477+1G>A were identified, confirming mutational clustering in a highly specific RNA binding motif. Structural analysis and interpretation of the variants' impact on the protein suggests that disruption of extra-ribosomal functions of the protein through binding of mRNA may play a role in the skeletal phenotype of SEMD-RPL13. In addition, we present gonadal and somatic mosaicism for the condition.
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  • Ferreira, CR, et al. (författare)
  • Defining the clinical phenotype of Saul-Wilson syndrome
  • 2020
  • Ingår i: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 22:5, s. 857-866
  • Tidskriftsartikel (refereegranskat)
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  • Xue, JY, et al. (författare)
  • SLC4A2 Deficiency Causes a New Type of Osteopetrosis
  • 2022
  • Ingår i: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. - : Wiley. - 1523-4681. ; 37:2, s. 226-235
  • Tidskriftsartikel (refereegranskat)
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  • Resultat 1-10 av 14

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