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Fong, L.G., Vickers, T.A., Farber, E.A., Choi, C., Yun, U.J., Hu, Y., Yang, S.H., Coffinier, C., Lee, R., Yin, L., Davies, B.S., Andres, D.A., Spielmann, H.P., Bennett, C.F. and Young, S.G. (2009) Activating the Synthesis of Progerin, the Mutant Prelamin A in Hutchinson-Gilford Progeria Syndrome, with Antisense Oligonucleotides. Human Molecular Genetics, 18, 2462-2471.
http://dx.doi.org/10.1093/hmg/ddp184
has been cited by the following article:
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TITLE:
Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
AUTHORS:
Monem Makki Alshok
KEYWORDS:
Progeria, Autoimmune Diseases, Pemphigus, Autoimmune Hemolytic Anemia, Acquired Von Willebrand Disease
JOURNAL NAME:
International Journal of Clinical Medicine,
Vol.5 No.20,
November
11,
2014
ABSTRACT: Ammar A., a 23-year-old male patient, who lives in Babylon, Haswa District, and his mother describes symptoms of growth retardation, skin changes, hair changes early graying and alopecia. These manifestation started early during his childhood period. There is canseguanity between the patient’s mother & father also one of the patient’s sister has similar illness and one male brother died few months following his birth. We admit the patient to hospital due acute pulmonary infection in Jan 2009, which is controlled after a course of antibiotic and after 5 months he develops generalised mucocuteneous bullous eruption which shows partial response to oral prednisolone 2 mg/Kg. The patient has normal IQ and he is in the secondary school and he has normal blood picture and the only abnormal biochemical abnormalities is mild hyperlipidemia Serum cholestrol of 5.8 mmol/L and Serum Triglyceride of 260 mg/dl. Ammar’s Sister Qawthar A., who has a similar phenotypic manifestations, presented skin vitiligo and hepatosplenomegaly associated with sever anemia and jaundice and her presentation suggestive of autoimmune haemolytic anemia improved following blood transfusion, corticosteroid and azothioprim. In February 2014 Ammer presented with multiple and diffuse cuteneous ecchymymosis with markedly prolonged PTT and slightly proloned bleeding time highly consistent with acquired Von Willebrand’s disease. In conclusion premature aging is a predisposing factor for disturbed immunity and development of autoimmune diseases.
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