Institution
Gdańsk Medical University
Education•Gdańsk, Poland•
About: Gdańsk Medical University is a education organization based out in Gdańsk, Poland. It is known for research contribution in the topics: Population & Cancer. The organization has 4893 authors who have published 11216 publications receiving 260523 citations.
Topics: Population, Cancer, Medicine, Blood pressure, Transplantation
Papers published on a yearly basis
Papers
More filters
••
University of Lübeck1, University of Edinburgh2, University of Zaragoza3, University of Pennsylvania4, University of Tokyo5, University of Melbourne6, Stanford University7, Radboud University Nijmegen8, Carlos III Health Institute9, Autonomous University of Barcelona10, Pompeu Fabra University11, Dresden University of Technology12, Medical University of Warsaw13, Universidad Católica San Antonio de Murcia14, University of Kentucky15, University of Amsterdam16, Alberta Children's Hospital17, Greater Baltimore Medical Center18, Boston Children's Hospital19, University of California, Los Angeles20, Group Health Cooperative21, Our Lady's Children's Hospital22, Belfast Health and Social Care Trust23, Guy's Hospital24, New York University25, University of Antwerp26, Dalhousie University27, Aalborg University28, Université catholique de Louvain29, Baylor College of Medicine30, Cedars-Sinai Medical Center31, Izaak Walton Killam Health Centre32, University of Western Ontario33, University College London34, Gdańsk Medical University35, Drexel University36
TL;DR: It is demonstrated that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.
Abstract: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical facies. Mutations in the core cohesin complex proteins, encoded by the SMC1A, SMC3 and RAD21 genes, together account for ∼5% of subjects, often with atypical CdLS features. Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. Here, we report a cohort of 38 individuals with an emerging spectrum of features caused by HDAC8 mutations. For several individuals, the diagnosis of CdLS was not considered prior to genomic testing. Most mutations identified are missense and de novo. Many cases are heterozygous females, each with marked skewing of X-inactivation in peripheral blood DNA. We also identified eight hemizygous males who are more severely affected. The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of the eyelids, a broader nose and dental anomalies, which may be useful discriminating features. HDAC8 encodes the lysine deacetylase for the cohesin subunit SMC3 and analysis of the functional consequences of the missense mutations indicates that all cause a loss of enzymatic function. These data demonstrate that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.
126 citations
••
TL;DR: Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland tumour that harbours the recurrent ETV6-NTRK3 translocation and there is a growing body of evidence that it is not as rare as was assumed, as is also indicated by the first series of MASC cases identified with clinical/pathological correlation and follow-up data.
Abstract: Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland tumour that harbours the recurrent ETV6-NTRK3 translocation. This is the first series of MASC cases identified in the historic cohort of carcinomas of salivary glands with clinical/pathological correlation and follow-up data. We reviewed 183 primary carcinomas of major and minor salivary glands resected at the Medical University of Gdansk, Poland, between 1992 and 2012. Based on morphology and immunohistochemistry, cases suspicious for MASC were selected, and the diagnosis was confirmed by fluorescence in situ hybridization (FISH) for ETV6 rearrangement and by RT-PCR for the ETV6-NTRK3 fusion transcript. Seven carcinomas met the criteria of MASC, as they exhibited a typical appearance with solid/microcystic and papillary architecture and intraluminal secretions, and cells completely devoid of basophilic cytoplasmic zymogen granules indicative of true acinar differentiation. The only paediatric case was an unencapsulated tumour composed of macrocystic structures covered by a mostly single but, focally, double layer of cells with apocrine morphology. In all cases, the neoplastic cells revealed immunoreactivity for S100, mammaglobin, cytokeratin CK7, CK8, STAT5a and vimentin. FISH for ETV6 gene rearrangement was positive in six out of seven cases, and RT-PCR was positive in three cases. MASC is a new entity of malignant epithelial salivary gland tumours not included in the 2005 WHO Classification of Head and Neck Tumours. There is a growing body of evidence that it is not as rare as was assumed, as is also indicated by our series (3.8 %). In most cases, MASC shares some microscopic features with AciCC, adenocarcinoma/cystadenocarcinoma NOS and low-grade MEC. In rare cases, MASC with high-grade transformation may mimic the morphological appearances of high-grade salivary gland malignancies, such as salivary duct carcinoma.
126 citations
••
TL;DR: Knowing on signal transduction changes in the aging immune system is summarized and a unifying mechanism is proposed as one of the causes of immunosenescence to restore the immune response to functional levels.
126 citations
••
TL;DR: It is shown that metformin decreases production of ROS through reduction of NAD(P)H oxidase activity and relationship between activity of NAD-dependent kinase and AMPK is demonstrated.
126 citations
••
TL;DR: Soft tissue and especially byssus of M. edulis, in contrast to shells, appear to be a significantly better bioindicator for identification of coastal areas exposed to metallic contaminants.
126 citations
Authors
Showing all 4927 results
Name | H-index | Papers | Citations |
---|---|---|---|
Magdi H. Yacoub | 109 | 1267 | 52431 |
Virend K. Somers | 106 | 615 | 54203 |
Felix Mitelman | 95 | 578 | 35416 |
Andrzej Slominski | 91 | 469 | 27900 |
Nils Mandahl | 86 | 427 | 25006 |
Fredrik Mertens | 84 | 406 | 28705 |
Enriqueta Felip | 83 | 622 | 53364 |
Pieter E. Postmus | 81 | 384 | 24039 |
Wilhelm Kriz | 73 | 222 | 19335 |
Godefridus J. Peters | 73 | 523 | 28315 |
Jacek Jassem | 73 | 602 | 35976 |
Piotr Rutkowski | 72 | 563 | 42218 |
Thomas Frodl | 70 | 258 | 16469 |
Eric J. Velazquez | 70 | 396 | 27539 |
Argye E. Hillis | 68 | 398 | 22230 |