Search Results - "Széll, M"
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Identification of putative genetic modifying factors that influence the development of Papillon–Lefévre or Haim–Munk syndrome phenotypes
Published in Clinical and experimental dermatology (01-07-2020)“…Summary Background Papillon–Lefévre syndrome (PLS; OMIM 245000) and Haim–Munk syndrome (HMS; OMIM 245010), which are both characterized by palmoplantar…”
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HuCOP1 contributes to the regulation of DNA repair in keratinocytes
Published in Molecular and cellular biochemistry (01-03-2017)“…We have previously demonstrated that the E3 ligase Human Constitutive Photomorphogenic Protein (huCOP1) is expressed in human keratinocytes and negatively…”
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Detection of a rare CDKN2A intronic mutation in a Hungarian melanoma-prone family and its role in splicing regulation
Published in British journal of dermatology (1951) (01-07-2012)“…Summary Background The major locus for melanoma predisposition is the cell cycle regulatory CDKN2A gene on chromosome 9p21. However, the frequency of germline…”
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Scaling Law of Urban Ride Sharing
Published in Scientific reports (06-03-2017)“…Sharing rides could drastically improve the efficiency of car and taxi transportation. Unleashing such potential, however, requires understanding how urban…”
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Halogen bonding as a supramolecular dynamics catalyst
Published in Nature communications (22-02-2019)“…Dynamic processes have many implications in functional molecules, including catalysts, enzymes, host-guest complexes, and molecular machines. Here, we…”
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Thrombosis and risk factors in female patients with a rare acquired thrombophilia: chronic myeloproliferative disorder - polycythaemia vera and essential thrombocythaemia
Published in European review for medical and pharmacological sciences (01-12-2014)“…In polycythaemia vera (PV) and essential thrombocythaemia (ET), the life expectancy of the patients is greatly affected by thrombotic events. An investigation…”
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Characterization of human chymotrypsinogen activation
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01-11-2012)Get full text
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Abnormal regulation of fibronectin production by fibroblasts in psoriasis
Published in British journal of dermatology (1951) (01-03-2016)“…Summary Background Data indicate that in psoriasis, abnormalities are already present in nonlesional skin. Transforming growth factor‐β and keratinocyte growth…”
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Moxifloxacin versus standard therapy in patients with pneumonia hospitalized after failure of preclinical anti-infective treatment
Published in Infection (01-08-2006)“…The failure rate of primary empirical anti-infective treatment of community-acquired pneumonia is reported to range between 2 and 7%. These patients are…”
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The management and genetic background of pityriasis rubra pilaris: a single‐centre experience
Published in Journal of the European Academy of Dermatology and Venereology (01-05-2019)“…Background Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory dermatosis with multifactorial aetiology. It is known that particular caspase…”
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372 Mechanism of cytosolic nucleic acid-induced CX3CL1 expression of human keratinocytes
Published in Journal of investigative dermatology (01-12-2022)Get full text
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One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes
Published in Clinical and experimental dermatology (01-03-2016)“…Summary Background Papillon–Lefévre syndrome (PLS; OMIM 245000) and Haim–Munk syndromes (HMS; OMIM 245010) are phenotypic variants of the same rare disease…”
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Interevent time distributions of human multi-level activity in a virtual world
Published in Physica A (01-02-2015)“…Studying human behavior in virtual environments provides extraordinary opportunities for a quantitative analysis of social phenomena with levels of accuracy…”
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Rapid Identification of Halogen Bonds in Co‐Crystalline Powders via 127I Nuclear Quadrupole Resonance Spectroscopy
Published in Angewandte Chemie International Edition (16-09-2019)“…127I nuclear quadrupole resonance (NQR) spectroscopy is established as a rapid and robust method to indicate the formation of iodine–nitrogen halogen bonds in…”
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Simultaneous adeno- and squamous cell carcinoma with different phenotypic profiles in a rat model of chronic gastroesophageal reflux
Published in Diseases of the esophagus (01-08-2007)“…The aim of our study was to investigate the incidence of duodeno‐gastroesophageal reflux‐induced malignant transformation in a series of duodeno‐esophageal…”
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Splicing factors differentially expressed in psoriasis alter mRNA maturation of disease-associated EDA+ fibronectin
Published in Molecular and cellular biochemistry (01-12-2017)“…The EDA+ fibronectin splicing variant is overexpressed in psoriatic non-lesional epidermis and sensitizes keratinocytes to mitogenic signals. However,…”
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Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome
Published in Clinical and experimental dermatology (01-10-2017)“…Summary Neurofibromatosis type 1 (NF1; OMIM 162200), a dominantly inherited multitumor syndrome, results from mutations in the Neurofibromin 1 (NF1) gene. We…”
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BRAFV600E mutation in cutaneous lesions of patients with adult Langerhans cell histiocytosis
Published in Journal of the European Academy of Dermatology and Venereology (01-06-2015)“…Background Langerhans cell histiocytosis (LCH) is characterized by the proliferation of pathologic Langerhans cells. The disease can develop in any age and can…”
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