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91.
A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing 下载免费PDF全文
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Anna Szumera‐Ciekiewicz Grzegorz Rymkiewicz Kamil Sok Ewa Paszkiewicz‐Kozik Anita Borysiuk Jan Poleszczuk Katarzyna Bachnio Zbigniew Bystydzienski Renata Woroniecka Beata Grygalewicz Martyna Kotarska Monika Staczak Daria Owczarek Beata Pytlak Monika Prochorec‐Sobieszek Jan Walewski 《International journal of laboratory hematology》2020,42(4):453-463
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Antonino Missineo Antonella Di Poto Joan A. Geoghegan Simonetta Rindi Simon Heilbronner Valentina Gianotti Carla Renata Arciola Timothy J. Foster Pietro Speziale Giampiero Pietrocola 《Infection and immunity》2014,82(6):2448-2459
Staphylococcus lugdunensis is a coagulase-negative staphylococcus that is a commensal of humans and an opportunistic pathogen. It can cause a spectrum of infections, including those that are associated with the ability to form biofilm, such as occurs with endocarditis or indwelling medical devices. The genome sequences of two strains revealed the presence of orthologues of the ica genes that are responsible for synthesis of poly-N-acetylglucosamine (PNAG) that is commonly associated with biofilm in other staphylococci. However, we discovered that biofilm formed by a panel of S. lugdunensis isolates growing in iron-restricted medium was susceptible to degradation by proteases and not by metaperiodate, suggesting that the biofilm matrix comprised proteins and not PNAG. When the iron concentration was raised to 1 mM biofilm formation by all strains tested was greatly reduced. A mutant of strain N920143 lacking the entire locus that encodes iron-regulated surface determinant (Isd) proteins was defective in biofilm formation under iron-limited conditions. An IsdC-null mutant was defective, whereas IsdK, IsdJ, and IsdB mutants formed biofilm to the same level as the parental strain. Expression of IsdC was required both for the primary attachment to unconditioned polystyrene and for the accumulation phase of biofilm involving cell-cell interactions. Purified recombinant IsdC protein formed dimers in solution and Lactococcus lactis cells expressing only IsdC adhered to immobilized recombinant IsdC but not to IsdJ, IsdK, or IsdB. This is consistent with a specific homophilic interaction between IsdC molecules on neighboring cells contributing to accumulation of S. lugdunensis biofilm in vivo. 相似文献
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Renata Mojzikova Pavla Koralkova Dusan Holub Zuzana Zidova Dagmar Pospisilova Jaroslav Cermak Zuzana Striezencova Laluhova Karel Indrak Martina Sukova Martina Partschova Jana Kucerova Monika Horvathova Vladimir Divoky 《British journal of haematology》2014,165(4):556-563
Pyruvate kinase (PK) deficiency is an iron‐loading anaemia characterized by chronic haemolysis, ineffective erythropoiesis and a requirement for blood transfusion in most cases. We studied 11 patients from 10 unrelated families and found nine different disease‐causing PKLR mutations. Two of these mutations ‐ the point mutation c.878A>T (p.Asp293Val) and the frameshift deletion c.1553delG (p.(Arg518Leufs*12)) ‐ have not been previously described in the literature. This frameshift deletion was associated with an unusually severe phenotype involving neonatal hyperferritinaemia that is not typical of PK deficiency. No disease‐causing mutations in genes associated with haemochromatosis could be found. Inappropriately low levels of hepcidin with respect to iron loading were detected in all PK‐deficient patients with increased ferritin, confirming the predominant effect of accelerated erythropoiesis on hepcidin production. Although the levels of a putative hepcidin suppressor, growth differentiation factor‐15, were increased in PK‐deficient patients, no negative correlation with hepcidin was found. This result indicates the existence of another as‐yet unidentified erythroid regulator of hepcidin synthesis in PK deficiency. 相似文献
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Guaré RO Ferreira MC Leite MF Rodrigues JA Lussi A Santos MT 《Journal of oral pathology & medicine》2012,41(5):367-371
J Oral Pathol Med (2012) 41 : 367–371 Background: A high prevalence of gastroesophageal reflux (GERD) has been observed in individuals with cerebral palsy (CP). One of the main risks for dental erosion is GERD. This study aimed to evaluate the presence of GERD, variables related to dental erosion and associated with GERD (diet consumption, gastrointestinal symptoms, bruxism), and salivary flow rate, in a group of 46 non‐institutionalized CP individuals aged from 3 to 13 years. Methods: Twenty CP individuals with gastroesophageal reflux (GERDG) and 26 without gastroesophageal reflux (CG) were examined according to dental erosion criteria, drinking habits, presence of bruxism, and salivary flow rate. A face‐to‐face detailed questionnaire with the consumption and frequency of acid drinks, gastrointestinal symptoms (regurgitation and heart burn), and the presence of bruxism were answered by the caregivers of both groups. Unstimulated whole saliva was collected under slight suction, and salivary flow rate (ml/min) was calculated. Results: The GERDG presented higher percentages of younger quadriplegics individuals compared to CG. The presence of regurgitation, heart burn, and tooth erosion (Grade 1) was significantly more prevalent in GERDG. It was observed difference in the salivary flow rate between the studied groups. On logistic multivariate regression analysis, the unique variable independently associated with the presence of GERD was dental erosion (P = 0.012, OR 86.64). Conclusion: The presence of GERD contributes significantly to dental erosion in the most compromised individuals with quadriplegics cerebral palsy individuals, increasing the risk of oral disease in this population. 相似文献
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Rodrigues RC Almeida EP Faria AC Macedo AP de Mattos Mda G Ribeiro RF 《Journal of prosthodontic research》2012,56(1):58-64
PurposeThe aim of the present study was to evaluate commercially pure titanium (CP Ti) casting quality when a specific to titanium and a conventional phosphate bonded investments were used under different mold temperatures. For this, the evaluated parameters were surface roughness, bending strength, Vickers microhardness, casting quality by radiographies and microstructure of CP Ti.MethodsWax patterns (28 mm × 3 mm × 1 mm) were invested using two phosphate bonded investments: Rematitan Plus (REM), specific to titanium, and Castorit Super C (CAS), a conventional investment, fired and cooled until reaching two mold temperatures: 430 °C (430) and room temperature (RT). Specimens were cast from CP Ti by plasma. After casting, specimens were radiographically examined and submitted to Vickers microhardness, roughness and bending strength evaluation. Microstructure was analyzed in the center and at the surface of specimen.ResultsQualitative analysis of radiographs showed that specimens which were cast using CAS-RT presented more casting porosities while the specimens which were cast with REM-430 did not present any casting porosity. No significant difference was noted among the groups in the surface roughness and Vickers microhardness data, but the bending strength of the specimens cast using CAS was greater than REM groups. The microstructure of the specimens of the different groups was similar, presenting a feather-like aspect.ConclusionCasting porosities found in the specimens cast using conventional investments (CAS) and lower mold temperatures would limit their use, even mechanical properties were similar than in specimens cast using specific to titanium investment (REM) at temperatures recommended by the manufacturer. 相似文献
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