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Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
(SPRINGERNATURE, 2022)
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases ...
Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders
(SPRINGERNATURE, 2022)
Neurodevelopmental disorders...
Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration
(Cell Press, 2022)
Tight regulation of mRNA isoform expression is essential for neuronal development, maintenance, and function; however, the repertoire of proteins that govern isoform composition and abundance remains incomplete. Here, we ...
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
(ELSEVIER, 2022)
Coenzyme Q10 (CoQ10) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ10 is synthesized by all cells and defects in the synthesis pathway result in primary CoQ10 deficiency ...
The Link between miR-96 Levels and the Developmental Dysplasia of the Hip
(GAZI UNIV, 2022)
Background: Developmental dysplasia of the hip (DDH) is a sophisticated skeletal disease ranging from subluxation to entire dislocation of the hip as a result of missing growth of the acetabulum and femur. DDH clearly has ...
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
(Wiley, 2022)
Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different ...