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Patterns of Antinuclear Antibodies in a New Variant of Endemic Pemphigus in El Bagre, Colombia, Colocalizing with Antigens against MIZAP, ARVCF, p0071, and Desmoplakins I and II.
J Appl Lab Med
October 2022
Georgia Dermatopathology Associates, Atlanta, GA, USA.
Article Synopsis
- A new variant of pemphigus foliaceus, named El Bagre-EPF, exhibits a distinctive pattern of antinuclear antibodies (ANAs) that was studied in 57 patients compared to 57 control subjects.
- The research revealed that 24% of El Bagre-EPF patients showed a unique ANA pattern, characterized by specific nuclear staining, which was statistically significantly different from the control group.
- This new ANA pattern was linked with certain proteins (MIZAP, ARVCF, p0071, and desmoplakins I-II) and also showed that 14% of patients exhibited classic homogeneous ANA patterns related to other specific autoantibodies.
The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.
Wiley Interdiscip Rev Dev Biol
January 2014
Department of Molecular Medicine, UCL Institute of Child Health, London, UK.
Hemizygous deletion of 22q11 affects approximately 1:4000 live births and may give rise to many different malformations but classically results in a constellation of phenotypes that receive a diagnosis of DiGeorge syndrome or velocardiofacial syndrome. Particularly affected are the heart and great vessels, the endocrine glands of the neck, the face, the soft palate, and cognitive development. Although up to 50 genes may be deleted, it is haploinsufficiency of the transcription factor TBX1 that is thought to make the greatest contribution to the disorder.
View Article and Find Full Text PDFStranded, part II: Velocardiofacial syndrome, behavioral neurogenetics, and the study of developmental psychopathology.
J Am Acad Child Adolesc Psychiatry
November 2009
AT-rich palindromes mediate the constitutional t(11;22) translocation.
Am J Hum Genet
January 2001
Department of Molecular Genetics, Albert Einstein College of Medicine, New York, NY, USA.
The constitutional t(11;22) translocation is the only known recurrent non-Robertsonian translocation in humans. Offspring are susceptible to der(22) syndrome, a severe congenital anomaly disorder caused by 3&rcolon;1 meiotic nondisjunction events. We previously localized the t(11;22) translocation breakpoint to a region on 22q11 within a low-copy repeat termed "LCR22" and within an AT-rich repeat on 11q23.
View Article and Find Full Text PDFEndothelial claudin: claudin-5/TMVCF constitutes tight junction strands in endothelial cells.
J Cell Biol
October 1999
Department of Cell Biology, Faculty of Medicine, Kyoto University, Kyoto 606-8501, Japan.
Tight junctions (TJs) in endothelial cells are thought to determine vascular permeability. Recently, claudin-1 to -15 were identified as major components of TJ strands. Among these, claudin-5 (also called transmembrane protein deleted in velo-cardio-facial syndrome [TMVCF]) was expressed ubiquitously, even in organs lacking epithelial tissues, suggesting the possible involvement of this claudin species in endothelial TJs.
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