Publications by authors named "Duha Hejla"

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic testing begins with methylation-specific multiplex ligation-dependent probe amplification or methylation-sensitive PCR and then proceeds to molecular subtyping to determine the mechanism and recurrence risk.

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Pathogenic PHF21A variation causes PHF21A-related neurodevelopmental disorders (NDDs). Although amorphic alleles, including haploinsufficiency, have been established as a disease mechanism, increasing evidence suggests that missense variants as well as frameshift variants extending the BHC80 carboxyl terminus also cause disease. Expanding on these, we report a proposita with intellectual disability and overgrowth and a novel de novo heterozygous PHF21A splice variant (NM_001352027.

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Article Synopsis
  • PACS1-neurodevelopmental disorder (PACS1-NDD) is linked to a specific genetic variation, Arg203, which causes a type of intellectual disability due to its effect on PACS1 protein's client protein interactions.
  • Researchers hypothesize that other PACS1 variants that disrupt binding to adaptor proteins could also lead to similar intellectual disabilities.
  • A novel PACS1 variant (Ser252Phe) was identified in a mother-daughter pair, which may impair binding to an adaptor protein (GGA3), suggesting it could contribute to PACS1-NDD-like symptoms and enhancing understanding of how PACS1 variations cause intellectual disabilities.
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Hejla, D, Dror, N, Pantanowitz, M, Nemet, D, and Eliakim, A. Reduced growth hormone response to anaerobic exercise among children with overweight and obesity. J Strength Cond Res 36(8): 2194-2197, 2022-The aim of the present study was to examine the effect of an anaerobic exercise test on growth hormone (GH) secretion in children with overweight and obesity compared with children with normal weight.

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