GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
Benares, India. In Congenit Anom (kyoto), 27 Nov 2015
The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); second one is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 gene reveals a previously reported nonsense truncation mutation g.42007251G>A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP).
Secondary pulmonary alveolar proteinosis in hematologic malignancies.
Weston, United States. In Hematol Oncol Stem Cell Ther, Dec 2014
Pulmonary alveolar proteinosis (PAP), characterized by deposition of intra-alveolar PAS positive protein and lipid rich material, is a rare cause of progressive respiratory failure first described by Rosen et al. in 1958.
A PtdIns4,5P2-regulated nuclear poly(A) polymerase controls expression of select mRNAs.
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Madison, United States. In Nature, 2008
Here we show that PIPKIalpha co-localizes at nuclear speckles and interacts with a newly identified non-canonical poly(A) polymerase, which we have termed Star-PAP (nuclear speckle targeted PIPKIalpha regulated-poly(A) polymerase) and that the activity of Star-PAP can be specifically regulated by PtdIns4,5P2.