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101.
Jeroen Bremer Duco Kramer Daryll S. Eichhorn Antoni Gostyski Gilles F. H. Diercks Marcel F. Jonkman Peter C. van den Akker Anna M. G. Pasmooij 《Experimental dermatology》2019,28(10):1153-1155
Human skin graft mouse models are widely used to investigate and develop therapeutic strategies for the severe generalized form of recessive dystrophic epidermolysis bullosa (RDEB), which is caused by biallelic null mutations in COL7A1 and the complete absence of type VII collagen (C7). Most therapeutic approaches are focused on reintroducing C7. Therefore, C7 and anchoring fibrils are widely used as readouts in therapeutic research with skin graft models. In this study, we investigated the expression pattern of human and murine C7 in a grafting model, in which human skin is reconstituted out of in vitro cultured keratinocytes and fibroblasts. The model revealed that murine C7 was deposited in both human healthy control and RDEB skin grafts. Moreover, we found that murine C7 is able to form anchoring fibrils in human grafts. Therefore, we advocate the use of human‐specific antibodies when assessing the reintroduction of C7 using RDEB skin graft mouse models. 相似文献
102.
Oana Nicoară-Farcău Ioana Rusu Horia Stefănescu Marcel Tanțău Radu Ion Badea Bogdan Procopeț 《World journal of gastroenterology : WJG》2020,26(22):3000-3011
Non-cirrhotic portal hypertension consists of a group of diseases characterized by signs and complications of portal hypertension,which differ from cirrhosis through histological alterations,hemodynamic characterization and, clinical outcome.Because of the similarities in clinical presentation and imaging signs,frequently these patients,and particularly those with porto-sinusoidal vascular disease(PSVD), are misdiagnosed as having liver cirrhosis and thus raising difficulties in their diagnosis.The most challenging differentiation to be considered is between PSVD and cirrhosis and, although not pathognomonic,liver biopsy is still the standard of diagnosis.Although they still require extended validation before being broadly used,new non-invasive methods for the diagnosis of porto-sinusoidal vascular disease,like transient elastography,contrast-enhanced ultrasound or metabolomic profiling,have shown promising results.Another issue is the differentiation between PSVD and chronic extrahepatic portal vein obstruction,especially now when it is known that 40% of patients suffering from PSVD develop portal vein thrombosis.In this particular case,once the portal vein thrombosis occurred,the diagnosis of PSVD is impossible according to the current guidelines.Moreover,so far,the differentiation between PSVD and sinusoidal obstruction syndrome has not been dear so far in particular circumstances.In this review we highlighted the diagnostic challenges regarding the PSVD, as well as the current techniques used in the evaluation of these patients. 相似文献
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Jaap J. A. J. van der Velden Michel van Geel Ruud G. L. Nellen Marcel F. Jonkman John A. McGrath Arti Nanda Eli Sprecher Maurice A. M. van Steensel W. H. Irwin McLean Andrew J. Cassidy 《Experimental dermatology》2015,24(4):285-289
Acral peeling skin syndrome (APSS, MIM #609796) is a rare autosomal recessive disorder characterized by superficial exfoliation and blistering of the volar and dorsal aspects of hands and feet. The level of separation is at the junction of the stratum granulosum and stratum corneum. APSS is caused by mutations in the TGM5 gene encoding transglutaminase‐5, which is important for structural integrity of the outermost epidermal layers. The majority of patients originate from Europe and carry a p.(Gly113Cys) mutation in TGM5. In this study, we report both European and non‐European families carrying other mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T. To confirm their pathogenicity, we performed functional analyses with a transglutaminase activity assay, determined alternative splicing by reverse‐transcribed PCR analysis and used databases and in silico prediction tools. 相似文献
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106.
Elimination of heparin interference during microarray processing of fresh and biobank‐archived blood samples 下载免费PDF全文
107.
Kristin Julia Glaas Marcel Fabian Schipper Jörg Klenzner Thomas Eysel-Gosepath Katrin Jansen Philipp Franz Matthias Schäfer Ralf 《European archives of oto-rhino-laryngology》2019,276(9):2441-2447
European Archives of Oto-Rhino-Laryngology - Since the 1980s, health-related quality of life (HRQOL) has been recognized in the assessment of medical treatment. To determine the health-related... 相似文献
108.
Marcel Cerqueira Cesar Machado Heraldo Possolo Souza 《Hepatobiliary & pancreatic diseases international : HBPD INT》2018,17(6):575-577
正To the Editor:Severeacutepancreatitisintheelderlyischaracterizedby significantmorbidityandmortalityrates,withahigherfinancial impact when compared to the same disease in younger patients [1]. There are some obvious differences between these two populations. The most glaring one is the presence of multiple co- 相似文献
109.
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Human leukocyte antigen typing using buccal swabs as accurate and non‐invasive substitute for venipuncture in children at risk for celiac disease 下载免费PDF全文