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dominant retinitis pigmentosa (ADRP). The Unfolded Protein Response (UPR) is implicated in the pathophysiology of several retinal disorders including ADRP in P23H Rho rats. The aim of this study ...
the role of this variation and the genes or pathways which modify disease will lead to improved personalized therapeutic predictions, strategies, and diagnostics. One process implicated in many genetic ...
of autosomal dominant retinitis pigmentosa as described in the later part of this article. Fig. 3. Open in new tabDownload slide Comparison of the expression levels of IMPDH isozymes among tissues. Protein ...
pathway required for the initiation of neural tube closure and provides an important new candidate that may be implicated in the aetiology of human NTDs. INTRODUCTION The neural tube is the embryonic ...
of CLN3 disease include rapidly progressive blindness due to retinitis pigmentosa , epileptic seizures, psychomotor decline and premature death [1]. The presence of characteristic ultrastructural fingerprint ...
receptor], nonautoimmune hyperthyroidism [thyroid-stimulating hormone receptor], and retinitis pigmentosa [rhodopsin]) (for reviews, see de Ligt et al., 2000; Parnot et al., 2002; Milligan, 2003; Smit et al ...
/lysozyme MMP-9 100 Retinitis pigmentosa Rhodopsin ADAM-9 101 Cataract Crystallins MMPs, ADAM, ADAMTS 102 and 103 Cancer p53 MMPs, IDE, ADAMs 104 and 105 Friedreich's ataxia Frataxin, aconitase MPP 106 ...
to the forming U5 snRNP allowing completion of the cytoplasmic part of the U5 snRNP biogenesis pathway necessary to meet the cellular demand for functional spliceosomes. INTRODUCTION The defining feature of most ...
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