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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia schneider Abdul Halawi Izzeldin Elmubarak katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt Medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

Development of an active-site titrant for SARS-CoV-2 main protease as an indispensable tool for evaluating enzyme kinetics

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Acta Pharmaceutica Sinica B 2024年第5期14卷 2349-2357页

作者： Rabea Voget Julian Breidenbach Tobias Claff Alexandra Hingst katharina Sylvester Christian Steinebach Lan Phuong Vu Renato H.Weiße Ulrike Bartz Norbert Sträter Christa E.Müller Michael Gütschow Pharmaceutical Institute Pharmaceutical&Medicinal ChemistryUniversity of BonnBonn 53121Germany Institute of Bioanalytical Chemistry Center for Biotechnology and BiomedicineLeipzig UniversityLeipzig 04103Germany Department of Natural Sciences University of Applied Sciences Bonn-Rhein-SiegRheinbach 53359Germany

A titrant for the SARS-CoV-2 main protease(M^(pro))was developed that enables,for the first time,the exact determination of the concentration of the enzymatically active M^(pro) by active-site *** covalent binding mode of the tetrapeptidic titrant was elucidated by the determination of the crystal structure of the enzyme–titrant *** fluorogenic substrates of M^(pro),including a prototypical,internally quenched Dabcyl-EDANS peptide,were compared in terms of solubility under typical assay *** exploiting the new titrant,key kinetic parameters for the M^(pro)-catalyzed cleavage of these substrates were determined.

关键词： COVID-19 SARS-CoV-2 Main protease Peptide nitriles Fluorogenic substrates Active-site titration X-ray crystallography Inner filter effect

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上海漕河泾现代服务业集聚区三方办公楼项目

建筑创作 2016年第1期 266-301页

作者：曼哈德.冯.格康尼古劳斯.格茨玛德琳.唯斯蔡磊陈竞成 Saeed Granfar 林易 katharina schneider 张砚张杨钟鸣 gmp

漕河泾“三方”办公楼远不像照片里那样有距离感，而是出乎意料的尺度宜人。这样一座看似普通的办公建筑，有两点引起了编者的兴趣：一是在办公建筑中使用参数化设计，二是经此合作，建筑师与业主建立了非常好的互信关系，并在其他项目... 详细信息

漕河泾“三方”办公楼远不像照片里那样有距离感，而是出乎意料的尺度宜人。这样一座看似普通的办公建筑，有两点引起了编者的兴趣：一是在办公建筑中使用参数化设计，二是经此合作，建筑师与业主建立了非常好的互信关系，并在其他项目上继续合作。

关键词：办公楼漕河服务业集聚上海办公建筑参数化设计建筑师

Behavior of circulating epithelial tumor cells(CETC)and FISH(fluorescence in situ hybridisation)of epidermal growth factor receptor(EGFR)-gene amplification in lung cancer patients during the course of therapy

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Advances in Lung Cancer 2013年第1期2卷 1-8页

作者： May El Sherif Claus Peter schneider Carola Rabenstein Amina Hessein Hassab Magdy Mamdouh El Bordiny Mona Wagdy Ayad katharina Pachmann Departement of Experimental Heamatology and Oncology Clinic for Internal Medicine II Friedrich-Schiller-Universität JenaJenaGermany Oncology Departement Bad Berka Central Clinic Bad BerkaGermany Transfusion Center Bayreuth BayreuthGermany Clinical Pathology Department Faculty of MedicineAlexandria UniversityAlexandriaEgypt

Introduction: Monitoring the response of CETC to therapy in lung cancer allows early detection of patients at risk of progression. Analysis of the EGFR-gene amplification in these cells may help to characterize patients who might benefit from tyrosine kinase inhibitors. Methods: CETCs were quantified at least twice during treatment from blood of 52 patients with advanced non small cell lung cancer (NSCLC) using fluorescence labelled anti-EpCAM. EGFR-gene amplification was analysed in these cells with double probe (EGFR/CEP7) using FISH analysis. Results: Progression of the tumor was observed in 30 of the 52 patients (58%). With respect to changes in CETCs during therapy and progression free survival 31 patients showed a decrease in CETCs, 2 developing a single brain metastasis and 12 progressive disease;20 patients showed an increase in CETC more than twofold 16 of which developed progressive disease. The difference was highly significant (p=0.007 Fisher’s exact test) irrespective of age, sex, tumor size, pathological type and therapy. Kaplan-Meier progression free survival was significantly different between patients with decreasing and increaseing CETC (p=0.038). 5/20 patients tested were positive for EGFR amplification with 85-100% of EpCAM positive cells showing this chromosomal abnormality. One patient could be followed during therapy with increasing CETC during therapy with bevacizumab followed by relapse. He subsequently received erlotinib resulting in a decrease in CETC and is still free of progress after 516 days. Conclusions: These results show that peripherally circulating tumor cells in patients with advanced NSCLC are influenced by systemic chemotherapy and an increase in spite of therapy is a marker of aggressiveness of the tumor cells. Determination of the EGFR amplification might help to better treat part of these patients.

关键词： Circulating Epithelial Tumor Cells Lung Cancer EGFR-Gene Mutation Amplification FISH

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宝马世界

城市环境设计 2020年第4期126卷 134-149页

作者：沃尔夫·狄·普瑞克斯 Paul Kath Tom Wiscombe Waltraut Hoheneder Mona Marbach Hans Aescht Beatrix Basting Guy Bebiè Chris Beccone Johannes Behrens Marcelo Bernardi Pawel Bodzak Verena Boyer Antja Bulthaup Claudia Buhmann Timo Carl Jan Chaldil Ing Tse Chen Tadeusz Chimiak Andrea Christmann Patrick Erhardt Stephan Exsternbrink Wolfgang Fiel Benedikt Frass Helmut Fr?tscher Volker Gessendorfer Andrea Graser Lukas Haller Markus Henning Armin Hess Jens Hoff Tamas Horvath Robert Huebser Astrid Jagersberger Marin Jurycz Gregor Kassl Areta Keller Markus Klausecker Tobias Klein Martin Konrad Quirin Krumbholz Caroline Kufferath Marion Lattenmayer Stefan Laub Wolfgang Leitgeb Andreas Mieling Karin Miesenberger Dennis Milam Elke Müller Henrike Münker Claudia Nehammer Martin Oberascher Alexander Ott Stefan Pfefferle Florian Pfeifer Markus Pillhofer Ekkehard Rehfeld Goswin Rothenthal Wolfgang Ruthensteiner Jasmin Sauerbier Florian Schafschetzy Kristina Schinegger Karolin Schmidbaur Patrick schneider katharina schneider Hubert Schoba Angus Schoenberger Andrea Sch?ning Anja Sorger Gernot Stangl Mark Steinmetz Sigrid Steinwender Martina Tippelskirch Dionicio Valdez Pascal Vauclair Akvile Rimantaite Andreas Weissenbach Heribert Wolfmayer Irina Zahler 2007 Ari Marcopoulos Gerald Zugmann Hélène Binet Duccio Malagamba Marcus Buck Christian Richters Richard Walch

项目大事记/CHRONOLOGY竞赛（一等奖）/Competition（1st Prize）:2001规划设计起始时间/Start of Planning:11/2001施工起始时间/Start of Construction:08/2003投入使用/Opening:20/10/2007-21/10/2007项目参数/PROJECT DATA用地面积/Site Area:约25 000m2/Approx. 25 000m2建筑毛面积/Gross Floor Area:约73 000m2（除坡道）=100%/Approx.73 000m2（excluding ramps）=100%地上建筑毛面积/Gross Floor Area above ground:约28 500m2=40%/Approx.28 500m2=40%地下建筑毛面积/Gross Floor Area underground:约44 500m2=60%/Approx.44 500m2=60%

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Association of mineral and bone biomarkers with adverse cardiovascular outcomes and mortality in the German Chronic Kidney Disease(GCKD)cohort

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Bone Research 2023年第4期11卷 764-771页

作者： katharina Charlotte Reimer Jennifer Nadal Heike Meiselbach Matthias Schmid Ulla T.Schultheiss Fruzsina Kotsis Helena Stockmann Nele Friedrich Matthias Nauck Vera Krane Kai-Uwe Eckardt Markus P.schneider Rafael Kramann Jürgen Floege Turgay Saritas Department of Nephrology Rheumatologyand Clinical ImmunologyUniversity Hospital RWTH AachenAachenGermany Institute of Experimental Medicine and Systems Biology RWTH Aachen UniversityAachenGermany Institute for Cell and Tumor Biology RWTH Aachen UniversityAachenGermany Institute of Medical Biometry Informatics and EpidemiologyUniversity Hospital of BonnBonnGermany Department of Nephrology and Hypertension University of Erlangen-NürnbergErlangenGermany Institute of Genetic Epidemiology Faculty of Medicine and Medical Center-University of FreiburgFreiburgGermany Department of Medicine IV-Nephrology and Primary Care Faculty of Medicine and Medical Center-University of FreiburgFreiburgGermany Department of Nephrology and Medical Intensive Care Charité-Universitätsmedizin BerlinBerlinGermany Department of Nephrology University Medical Center RegensburgRegensburgGermany Institute of Clinical Chemistry and Laboratory Medicine University Medicine GreifswaldGreifswaldGermany DZHK(German Centre for Cardiovascular Research) Partner Site GreifswaldUniversity MedicineGreifswaldGermany Department of Medicine I Division of NephrologyUniversity Hospital WürzburgWürzburgGermany

Mineral and bone disorder(MBD)in chronic kidney disease(CKD)is tightly linked to cardiovascular disease(CVD).In this study,we aimed to compare the prognostic value of nine MBD biomarkers to determine those associated best with adverse cardiovascular(CV)outcomes and *** 5217 participants of the German CKD(GCKD)study enrolled with an estimated glomerular filtration rate(eG FR)between 30–60 mL·min-1 per 1.73 m2 or overt proteinuria,serum osteoprotegerin(OPG),C-terminal fibroblast growth factor-23(FGF23),intact parathyroid hormone(iP TH),bone alkaline phosphatase(BAP),cross-linked C-telopeptide of type 1 collagen(CTX1),procollagen 1intact N-terminal propeptide(P1NP),phosphate,calcium,and 25-OH vitamin D were measured at *** with missing values among these parameters(n=971)were excluded,leaving a total of 4246 participants for *** a median follow-up of6.5 years,387 non-CV deaths,173 CV deaths,645 nonfatal major adverse CV events(MACEs)and 368 hospitalizations for congestive heart failure(CHF)were *** and FGF23 were associated with all outcomes,with the highest hazard ratios(HRs)for *** the final Cox regression model,adjusted for CV risk factors,including kidney function and all other investigated biomarkers,each standard deviation increase in OPG was associated with non-CV death(HR 1.76,95%CI:1.35–2.30),CV death(HR 2.18,95%CI:1.50–3.16),MACE(HR 1.38,95%CI:1.12–1.71)and hospitalization for CHF(HR 2.05,95%CI:1.56–2.69).Out of the nine biomarkers examined,stratification based on serum OPG best identified the CKD patients who were at the highest risk for any adverse CV outcome and mortality.

关键词： Kidney cardiovascular vitamin