منابع مشابه
MSX1 Mutation in Witkop Syndrome; A Case Report
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...
متن کاملInfrequent Mutation of the WTl Gene 77 Wilrns ' Turnors • tn
Institut fur Humangenetik der Philipps-Universitiit, 0-35037 Marburg, Germany (M. G., A. K.), Ludwig Institute for Cancer Research and Department of Medicine, University of California at San Diego, La l olla, California 92093-0660 (K.A., W.c. ) , Cross Cancer Institute, Edmonton, Alberta, Canada (P.G. ), Division of HematologylOncology, Children's Hospital, Department of Pediatrics, Harvard Med...
متن کاملEpigenetic silencing of the chaperone Cosmc in human leukocytes expressing tn antigen.
Cosmc is the specific molecular chaperone in the endoplasmic reticulum for T-synthase, a Golgi β3-galactosyltransferase that generates the core 1 O-glycan, Galβ1-3GalNAcα-Ser/Thr, in glycoproteins. Dysfunctional Cosmc results in the formation of inactive T-synthase and consequent expression of the Tn antigen (GalNAcα1-Ser/Thr), which is associated with several human diseases. However, the molec...
متن کاملPresence of the Tn antigen on hematopoietic progenitors from patients with the Tn syndrome.
The Tn syndrome is an acquired clonal disorder characterized by the exposure of a normally hidden determinant, the Tn antigen, on the surface of human erythrocytes, platelets, granulocytes, and lymphocytes. Two distinct populations, Tn positive (Tn+) and Tn negative (Tn-), of mature hemopoietic cells are present in Tn patients. To determine whether the Tn antigen is already expressed on erythro...
متن کاملNovel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)
Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....
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ژورنال
عنوان ژورنال: Nature
سال: 2005
ISSN: 0028-0836,1476-4687
DOI: 10.1038/4371252a