Publications by authors named "Charles J Shaw-Smith"
Article Synopsis
- * The study identifies RNU4-2, a non-coding RNA gene, as a significant contributor to syndromic NDD, revealing a specific 18-base pair region with low variation that includes variants found in 115 individuals with NDD.
- * RNU4-2 is highly expressed in the developing brain, and its variants disrupt splicing processes, indicating that non-coding genes play a crucial role in rare disorders, potentially aiding in the diagnosis of thousands with NDD worldwide.
Neonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive and X-linked subtypes. Biallelic truncating or mis-sense mutations in the DNA-binding domain of the RFX6 transcription factor cause an autosomal recessive, syndromic form of neonatal diabetes previously described as Mitchell-Riley syndrome.
View Article and Find Full Text PDFHuman ileal bile acid-binding protein promoter and the effects of CDX2.
Biochim Biophys Acta
November 2003
The ileal bile acid-binding protein (IBABP) is important for the reabsorption of bile salts in the distal small intestine. Studies with the human IBABP gene (FABP6, on chromosome 5q33.3-q34) defined the major transcription start site and identified conserved elements.
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