A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis
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چکیده
منابع مشابه
Indian Childhood Cirrhosis: Case Report and Pediatric Diagnostic Challenges
Introduction: Indian childhood cirrhosis is a chronic liver disease usually seen in paediatric age group and is unique to the Indian subcontinent. The definitive causative factor for the disease is not found till now but excess copper ingestion has been associated with it.Case presentation: An Indian origin one and half year old premorbidly normal male child presented with history of gradual di...
متن کاملp53-Mediated Biliary Defects Caused by Knockdown of cirh1a, the Zebrafish Homolog of the Gene Responsible for North American Indian Childhood Cirrhosis
North American Indian Childhood Cirrhosis (NAIC) is a rare, autosomal recessive, progressive cholestatic disease of infancy affecting the Cree-Ojibway first Nations of Quebec. All NAIC patients are homozygous for a missense mutation (R565W) in CIRH1A, the human homolog of the yeast nucleolar protein Utp4. Utp4 is part of the t-Utp subcomplex of the small subunit (SSU) processome, a ribonucleopr...
متن کاملIndian childhood cirrhosis.
Neviasa JS. Adhesive capsulitis of the shoulder. A study of the pathological findings in periarthritis of the shoulder. J Bone J'oint Surg 1945 ;27 :211-22. 2 Bruckner FE, Nye CJS. A prospective study of adhesive capsulitis of the shoulder ("frozen shoulder") in a high risk population. Q 7 Med 1981; 198:191-204. 3Wright V, Haq AMMM. Periarthritis of the shoulder. II. Radiological features. Ann ...
متن کاملNOL11, Implicated in the Pathogenesis of North American Indian Childhood Cirrhosis, Is Required for Pre-rRNA Transcription and Processing
The fundamental process of ribosome biogenesis requires hundreds of factors and takes place in the nucleolus. This process has been most thoroughly characterized in baker's yeast and is generally well conserved from yeast to humans. However, some of the required proteins in yeast are not found in humans, raising the possibility that they have been replaced by functional analogs. Our objective w...
متن کاملFindings in hepatitis and Indian childhood cirrhosis
Chandra, R. K. (1975). Archives of Disease in Childhood, 50, 559. Lymphocyte response to hepatitis B surface antigen: findings in hepatitis and Indian childhood cirrhosis. The lymphocyte delayed hypersensitivity response to phytohaemagglutinin (PHA) and hepatitis B antigen (HBsAg) was evaluated by two in vitro tests-leucocyte migration inhibition and DNA synthesis. Patients convalescing from HB...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2002
ISSN: 0002-9297
DOI: 10.1086/344580