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Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances 22 Aug 2013 | 07:11 pm
Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption, we perf...
Silencing of the Drosophila ortholog of SOX5 in heart leads to cardiac dysfunction as detected by optical coherence tomography 22 Aug 2013 | 07:11 pm
The SRY-related HMG-box 5 (SOX5) gene encodes a member of the SOX family of transcription factors. Recently, genome-wide association studies have implicated SOX5 as a candidate gene for susceptibility...
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome 22 Aug 2013 | 07:11 pm
Snyder–Robinson syndrome (SRS, OMIM: 309583) is an X-linked intellectual disability (XLID) syndrome, characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, h...
The giant spectrin {beta}V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route 22 Aug 2013 | 07:11 pm
Mutations in the myosin VIIa gene cause Usher syndrome type IB (USH1B), characterized by deaf-blindness. A delay of opsin trafficking has been observed in the retinal photoreceptor cells of myosin VII...
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome 22 Aug 2013 | 07:11 pm
The sulfated polysaccharide dermatan sulfate (DS) forms proteoglycans with a number of distinct core proteins. Iduronic acid-containing domains in DS have a key role in mediating the functions of DS p...
GATA3 controls the specification of prosensory domain and neuronal survival in the mouse cochlea 22 Aug 2013 | 07:11 pm
HDR syndrome (also known as Barakat syndrome) is a developmental disorder characterized by hypoparathyroidism, sensorineural deafness and renal disease. Although genetic mapping and subsequent functio...
