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
More filters
••
TL;DR: The identification of GJB2 as the DFNB1 gene should provide a better understanding of the biology of normal and abnormal hearing, help form the basis for diagnosis and may facilitate development of strategies for treatment of this common genetic disorder.
Abstract: Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on the long arm of chromosome 13, accounts for approximately 80% of cases in the Mediterranean area. Further analysis with additional markers now identifies several recombinants which narrow the candidate region to approximately 5 cM, encompassed by markers D13S141 and D13S232 and including several ESTs and candidate genes, including the connexin26 (GJB2) gene. Analysis of PCR products from our affected patients' DNA shows two frameshift mutations in the connexin26 gene. Deletion of a G within a stretch of six Gs at position 35 of the GJB2 cDNA (mutation 35delG) leads to premature chain termination and is present in 63% of NSRD chromosomes, demonstrating linkage to chromosome 13. Deletion of a T at position 167 of GJB2 (mutation 167delT), also resulting in premature chain termination, was detected in another patient. Four neutral sequence polymorphisms were also identified. These findings are in agreement with a recent study showing that mutations in the connexin26 gene are associated with genetic forms of deafness in three Pakistani families and that GJB2 is DFNB1. Connexin26 is a member of a large family of proteins involved in formation of gap junctions, which are involved in electrical synapses and the direct transfer of small molecules and ionic currents between neighboring cells. The identification of GJB2 as the DFNB1 gene should provide a better understanding of the biology of normal and abnormal hearing, help form the basis for diagnosis and may facilitate development of strategies for treatment of this common genetic disorder.
608 citations
••
TL;DR: In patients with HCV‐related, histologically proven cirrhosis, achievement of a SVR after IFNα therapy was associated with a reduction of liver‐related mortality lowering both the risk of complications and HCC development.
605 citations
•
TL;DR: These findings demonstrate for the first time that LKB1/STK11 inactivation is a very common event and may be integrally involved in the development of sporadic lung adenocarcinoma.
Abstract: Frequent losses of chromosome 19p have recently been observed in sporadic lung adenocarcinomas, targeting the location of a critical tumor suppressor gene. Here we performed fine mapping of the short arm of chromosome 19 and found that the LKB1/STK11 gene mapped in the minimal-deleted region. Because germ-line mutations at LKB1/STK11 result in the Peutz-Jeghers syndrome and an increased risk of cancer, we performed a detailed genetic screen of the LKB1/STK11 gene in lung tumors. We detected a high frequency of somatic alterations (mainly nonsense mutations) in primary lung adenocarcinomas and in lung cancer cell lines. Thus, our findings demonstrate for the first time that LKB1/STK11 inactivation is a very common event and may be integrally involved in the development of sporadic lung adenocarcinoma.
584 citations
••
TL;DR: CAG trinucleotide expansion is the molecular basis of Huntington's disease worldwide and is a highly sensitive and specific marker for inheritance of the disease mutation.
Abstract: Background Huntington's disease is associated with an expanded sequence of CAG repeats in a gene on chromosome 4p16.3. However, neither the sensitivity of expanded CAG repeats in affected persons of different ethnic origins nor the specificity of such repeats for Huntington's disease as compared with other neuropsychiatric disorders has been determined. Methods We studied 1007 patients with diagnosed Huntington's disease from 565 families and 43 national and ethnic groups. In addition, the length of the CAG repeat was determined in 113 control subjects with a family history of Alzheimer's disease (44 patients), schizophrenia (39), major depression (16), senile chorea (5), benign hereditary chorea (5), neuroacanthocytosis (2), and dentatorubropallidoluysian atrophy (2). The number of CAG repeats was also assessed in 1595 control chromosomes, with the size of adjacent polymorphic CCG trinucleotide repeats taken into account. Results Of 1007 patients with signs and symptoms compatible with a diagnosis of Hun...
569 citations
••
Katholieke Universiteit Leuven1, Wellcome Trust Sanger Institute2, Montreal Heart Institute3, Canterbury Christ Church University4, Wellcome Trust Centre for Human Genetics5, University of Chicago6, University of Kiel7, Peninsula College of Medicine and Dentistry8, University of Adelaide9, Royal Adelaide Hospital10, Casa Sollievo della Sofferenza11, Ludwig Maximilian University of Munich12, Johns Hopkins University13, Yale University14, Broad Institute15, Cedars-Sinai Medical Center16, University of Pittsburgh17, University of Auckland18, Christchurch Hospital19, University of Otago20, Children's Hospital of Philadelphia21, Örebro University22, Oslo University Hospital23, University of Edinburgh24, Lithuanian University of Health Sciences25, University of Western Australia26, University of Cambridge27, University of Liège28, Leiden University Medical Center29, University Medical Center Groningen30, Royal Hospital for Sick Children31, Newcastle University32, University of Toronto33, QIMR Berghofer Medical Research Institute34, Royal Brisbane and Women's Hospital35
TL;DR: The largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases.
563 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 |