Institution
Casa Sollievo della Sofferenza
Healthcare•San Giovanni Rotondo, Italy•
About: Casa Sollievo della Sofferenza is a healthcare organization based out in San Giovanni Rotondo, Italy. It is known for research contribution in the topics: Population & Cancer. The organization has 2234 authors who have published 6183 publications receiving 239811 citations. The organization is also known as: Home for Relief of the Suffering.
Topics: Population, Cancer, Gene, Diabetes mellitus, Type 2 diabetes
Papers published on a yearly basis
Papers
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TL;DR: It is shown that disease-causing mutations reduce Brf1 occupancy at tRNA target genes in Saccharomyces cerevisiae and impair cell growth, suggesting that BRF1-mediated Pol III transcription is required for normal cerebellar and cognitive development.
Abstract: RNA polymerase III (Pol III) synthesizes tRNAs and other small noncoding RNAs to regulate protein synthesis. Dysregulation of Pol III transcription has been linked to cancer, and germline mutations in genes encoding Pol III subunits or tRNA processing factors cause neurogenetic disorders in humans, such as hypomyelinating leukodystrophies and pontocerebellar hypoplasia. Here we describe an autosomal recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Whole-exome sequencing revealed biallelic missense alterations of BRF1 in three families. In support of the pathogenic potential of the discovered alleles, suppression or CRISPR-mediated deletion of brf1 in zebrafish embryos recapitulated key neurodevelopmental phenotypes; in vivo complementation showed all four candidate mutations to be pathogenic in an apparent isoform-specific context. BRF1 associates with BDP1 and TBP to form the transcription factor IIIB (TFIIIB), which recruits Pol III to target genes. We show that disease-causing mutations reduce Brf1 occupancy at tRNA target genes in Saccharomyces cerevisiae and impair cell growth. Moreover, BRF1 mutations reduce Pol III-related transcription activity in vitro. Taken together, our data show that BRF1 mutations that reduce protein activity cause neurodevelopmental anomalies, suggesting that BRF1-mediated Pol III transcription is required for normal cerebellar and cognitive development.
87 citations
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87 citations
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TL;DR: Treatment was effective in inducing weight loss, improving liver steatosis, and restoring some components of the metabolic syndrome.
87 citations
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TL;DR: FII A(20210) mutation is associated with DVT in the lower extremities alone or when complicated by PE, but it is not associated with isolated PE.
87 citations
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TL;DR: While conventional radiography clearly confirms the diagnosis of diffuse idiopathic skeletal hyperostosis, CT and MRI better detect associated findings and complications.
87 citations
Authors
Showing all 2237 results
Name | H-index | Papers | Citations |
---|---|---|---|
Ralph B. D'Agostino | 226 | 1287 | 229636 |
Cisca Wijmenga | 136 | 668 | 86572 |
Massimo Mangino | 116 | 369 | 84902 |
Xavier Estivill | 110 | 673 | 59568 |
Andrea Natale | 106 | 945 | 52520 |
Stefano Pileri | 100 | 635 | 43369 |
Bruno Dallapiccola | 94 | 935 | 43208 |
Fortunato Ciardiello | 94 | 695 | 47352 |
F. Bianchi | 91 | 1370 | 40011 |
Paolo Gasparini | 91 | 431 | 36059 |
Joseph G. Gleeson | 86 | 307 | 23345 |
Mario Rizzetto | 79 | 470 | 33693 |
Giuseppe Leone | 74 | 654 | 21451 |
Maurizio Pompili | 74 | 783 | 20649 |
Massimo Rugge | 74 | 594 | 25624 |