Parul H Kothari

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Systemic lupus erythematosus (SLE) is a prototypic autoimmune disorder with a complex pathogenesis in which genetic, hormonal and environmental factors have a role. Rare mutations in the TREX1 gene, the major mammalian 3′–5′ exonuclease, have been reported in sporadic SLE cases. Some of these mutations have also been identified in a rare pediatric(More)
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3′-5′ exonuclease. These truncated proteins retain exonuclease activity but lose normal perinuclear localization. These data have(More)
F.J. Mateen, MD K. Krecke, MD B.R. Younge, MD A.L. Ford, MD A. Shaikh, MD P.H. Kothari, MD J.P. Atkinson, MD EVOLUTION OF A TUMOR-LIKE LESION IN CEREBRORETINAL VASCULOPATHY AND TREX1 MUTATION Cerebroretinal vasculopathy (CRV) is an adult-onset autosomal dominant disorder involving the microvessels of the brain and retina due to frameshift mutations in the(More)
Cerebroretinal vasculopathy (CRV) and the related diseases hereditary endotheliopathy with retinopathy, neuropathy, and stroke (HERNS), hereditary vascular retinopathy (HVR) and hereditary systemic angiopathy (HSA) [subsequently combined as retinovasculopathy and cerebral leukodystrophy (RVCL)] are devastating autosomal-dominant disorders of early to(More)
Aicardi-Goutières syndrome (AGS), Systemic Lupus Erythematosus (SLE), Familial Chilblain Lupus (FCL) and Retinal Vasculopathy and Cerebral Leukodystrophy (RVCL) {a new term encompassing three independently described conditions with a common etiology--Cerebroretinal Vasculopathy (CRV), Hereditary Vascular Retinopathy (HVR) and Hereditary Endotheliopathy,(More)
TREX1/DNASE III, the most abundant 3'-5' DNA exonuclease in mammalian cells, is tail-anchored on the endoplasmic reticulum (ER). Mutations at the N-terminus affecting TREX1 DNase activity are associated with autoimmune and inflammatory conditions such as Aicardi-Goutières syndrome (AGS). Mutations in the C-terminus of TREX1 cause loss of localization to the(More)
leukoencephalopathy and systemic manifestations Anine H. Stam,* Parul H. Kothari,*Aisha Shaikh, Andreas Gschwendter, Joanna C. Jen, Suzanne Hodgkinson, Todd A. Hardy, Michael Hayes, Peter A. Kempster, Katya E. Kotschet, Ingeborg M. Bajema, Sjoerd G. van Duinen, Marion L. C. Maat-Schieman, Paulus T. V. M. de Jong, Marc D. de Smet, Didi de Wolff-Rouendaal,(More)
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