NOL11, implicated in the pathogenesis of North American Indian Childhood Cirrhosis, is required for pre‐rRNA transcription and processing

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NOL11, 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 However, some of the required proteins in yeast are not found in humans, raising the possibility that they have been replaced by functional analogs.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...

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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...

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The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus

The production of ribosomes is ubiquitous and fundamental to life. As such, it is surprising that defects in ribosome biogenesis underlie a growing number of symptomatically distinct inherited disorders, collectively called ribosomopathies. We previously determined that the nucleolar protein, NOL11, is essential for optimal pre-rRNA transcription and processing in human tissue culture cells. Ho...

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Indian 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 ...

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Indian childhood cirrhosis in the United Kingdom.

Two young brothers with cirrhosis are reported. They are the issue of a first-cousin marriage between Bangladeshi parents. The older boy was born in Bangladesh, the younger in England. A diagnosis of Indian childhood cirrhosis (ICC) was made on the basis of the clinical features and the liver histology. The younger brother represents the first example of this disease in a patient born in the Un...

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ژورنال

عنوان ژورنال: The FASEB Journal

سال: 2013

ISSN: 0892-6638,1530-6860

DOI: 10.1096/fasebj.27.1_supplement.552.1