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| 1 | High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes显示文摘Screening gene function in vivo is a powerful approach to discover novel drug targets. We present high-throughput screening(HTS) data for 3 762 distinct global gene knockout(KO) mouse lines with viable adult homozygous mice generated using either gene-trap or homologous recombination technologies. Bone mass was determined from DEXA scans of male and female mice at 14 weeks of age and by microCT analyses of bones from male mice at 16 weeks of age. Wild-type(WT) cagemates/littermates were examined for each gene KO. Lethality was observed in an additional 850 KO lines. Since primary HTS are susceptible to false positive findings, additional cohorts of mice from KO lines with intriguing HTS bone data were examined. Aging,ovariectomy, histomorphometry and bone strength studies were performed and possible non-skeletal phenotypes were explored. Together, these screens identified multiple genes affecting bone mass: 23 previously reported genes(Calcr, Cebpb, Crtap, Dcstamp, Dkk1, Duoxa2, Enpp1, Fgf23, Kiss1/Kiss1 r, Kl(Klotho),Lrp5, Mstn, Neo1, Npr2, Ostm1, Postn, Sfrp4, Slc30a5, Slc39a13, Sost, Sumf1, Src, Wnt10b), five novel genes extensively characterized(Cldn18, Fam20 c, Lrrk1, Sgpl1, Wnt16), five novel genes with preliminary characterization(Agpat2, Rassf5, Slc10a7, Slc26a7, Slc30a10) and three novel undisclosed genes coding for potential osteoporosis drug targets. | Robert Brommage Jeff Liu Gwenn M Hansen Laura L Kirkpatrick David G Potter Arthur T Ss Brian Zambrowicz David R Powell Peter Vogel | 2014 | Bone Research2014，2，3： | 7 |
| 2 | New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report显示文摘BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)encompasses a group of autosomal recessive disorders with high morbidity and mortality.Variants in the gene encoding tight junction protein-2(TJP2)have been linked to PFIC type 4(PFIC4),which predominantly presents in childhood.However,there are only limited data from adults with TJP2-related PFIC4.We report a family with an autosomal recessive disorder with a novel variant in the TJP2 gene in adults with very variable expression of PFIC4.CASE SUMMARY The index patient presented at 19 years old with liver cirrhosis and variceal bleeding and was treated with endoscopic banding and beta-blockers.In 2018,he developed primary liver cancer that was treated with radiofrequency ablation followed by liver transplantation in 2019.Genetic testing revealed a novel homozygous TJP2 variant causing PFIC4(TJP2([NM_004817.3]:c.[3334C>T];[3334C>T])).The consanguineous family consists of the father and mother(both heterozygous)and their 12 children,of which five carry the variant in a homozygous state;however,these five siblings have highly variable expression of PFIC4.Two homozygous brothers had cirrhosis and portal hypertension at diagnosis at the ages of 19 and 36.Two other homozygous brothers,age 23 and 19,and the homozygous sister,age 21,have elevated liver enzymes but presently no cirrhosis,which may suggest an age-dependent penetrance.In addition,five sisters had severe and mild intrahepatic cholestasis of pregnancy and carry the TJP2 variant in a homozygous and heterozygous state,respectively.CONCLUSION This novel TJP2 variant is associated with PFIC4 causing severe liver disease with cirrhosis and primary liver cancer in adolescents/adults. | Chun-Shan Wei Naja Becher Jenny Blechingberg Friis Peter Ott Ida Vogel Henning Grønbæk | 2020 | World Journal of Gastroenterology2020，26，5： | 6 |
| 3 | ATG16L1 and NOD2 polymorphisms enhance phagocytosis in monocytes of Crohn's disease patients显示文摘AIM:To investigate if the presence of relevant genetic polymorphisms has effect on the effectual clearance of bacteria by monocytes and granulocytes in patients with Crohn’s disease(CD).METHODS:In this study,we assessed the differential responses in phagocytosis by measuring the phagocytic activity and the percentage of active phagocytic monocytes and granulocytes in inflammatory bowel disease patients as well as healthy controls.As both autophagy related like 1(ATG16L1)and immunityrelated guanosine triphosphatase gene are autophagy genes associated with CD and more recently nucleo-tide-binding ligomerization domain-containing protein2(NOD2)has been identified as a potent inducer of autophagy we genotyped the patients for these variants and correlated this to the phagocytic reaction.The genotyping was done with restriction fragment length polymorphisms analysis and the phagocytosis was determined with the pHrodo?Escherichia coli Bioparticles Phagocytosis kit for flowcytometry.RESULTS:In this study,we demonstrate that analysis of the monocyte and granulocyte populations of patients with CD and ulcerative colitis showed a comparable phagocytic activity(ratio of mean fluorescence intensity)between the patient groups and the healthy controls.CD patients show a significantly higher phagocytic capacity(ratio mean percentage of phagocytic cells)compared to healthy controls(51.91%±2.85%vs 37.67%±7.06%,P=0.05).The extend of disease was not of influence.However,variants of ATG16L1(WT:2.03±0.19 vs homozygoot variant:4.38±0.37,P<0.009)as well as NOD2(C-ins)(heterozygous variant:42.08±2.94 vs homozygous variant:75.58±4.34(P=0.05)are associated with the phagocytic activity in patients with CD.CONCLUSION:Monocytes of CD patients show enhanced phagocytosis associated with the presence of ATG16L1 and NOD2 variants.This could be part of the pathophysiological mechanism resulting in the disease. | Simone CS Wolfkamp Caroline Verseyden Esther WM Vogels Sander Meisner Kirsten Boonstra Charlotte P Peters Pieter CF Stokkers Anje A te Velde | 2014 | World Journal of Gastroenterology2014，20，10： | 2 |
| 4 | 一座传授木材技术的木建筑显示文摘在瑞士的汝拉山脚下,有一座人口约5万的小城市——比尔(Biel/Bienne),自19世纪起就一直拥有繁荣的工业和手表制造业。与这座城市的工业氛围相得益彰的,是充满实用精神的应用科学教育。所属于伯尔尼应用科学大学(Bern University of Applied Sciences)的比尔高等木材技术学校(Higher Technical School of Wood Biel,HTS)即坐落于这里。 | Marcel Meili Markus Peter Zeno Vogel Thomas Kühne Marc Loeliger Andreas Schmidt Thomas Schnabel Urs Schnenberger Othmar Villiger | 2018 | 世界建筑2018，，7： | 2 |
| 5 | Dynamo显示文摘 | Giuseppe DeCandia Deniz Hastorun Madan Jampani Gunavardhan Kakulapati Avinash Lakshman Alex Pilchin Swaminathan Sivasubramanian Peter Vosshall Werner Vogels | 2007 | ACM SIGOPS Operating Systems Review2007，，6： | 2 |
| 6 | Mechanical characterisation of mullite-based ceramic matrix composites at test temperatures up to 1200°C显示文摘 | P.W.M. Peters B. Daniels F. Clemens W.D. Vogel | 2000 | Journal of the European Ceramic Society2000，，5： | 1 |
| 7 | Critical review of kinetic data for the oxidation of methanol in supercritical water显示文摘 | VOGEL F BLANCHARDJ L D MARRONE P A RICE SF WEBLEY P A PETERS W A SMITH K A TESTERJ W | 2005 | J Supercrit Fluid2005，34，3： | 1 |
| 8 | Africa's wild C4 plant foods and possible early hominid diets显示文摘 | Peters C R Vogel J C | 2005 | Journal of Human Evolution2005，48，： | 1 |
| 9 | Topography of the inferior rectal artery: A possible cause of chronic, primary anal fissure显示文摘 | Bernd Klosterhalfen Peter Vogel Helma Rixen Christian Mittermayer | 1989 | Diseases of the Colon & Rectum1989，，1： | 1 |
| 10 | Oxidative albumin damage in chronic liver failure: Relation to albumin binding capacity, liver dysfunction and survival显示文摘 | Karl Oettl Ruth Birner-Gruenberger Walter Spindelboeck Hans Peter Stueger Livia Dorn Vanessa Stadlbauer Csilla Putz-Bankuti Peter Krisper Ivo Graziadei Wolfgang Vogel Carolin Lackner Rudolf E. Stauber | 2013 | Journal of Hepatology2013，，5： | 1 |
| 11 | Response of soil biota to elevated atmospheric CO2 in poplar model systems显示文摘 | John Lussenhop Amy Treonis Peter S. Curtis James A. Teeri Christoph S. Vogel | 1998 | Oecologia1998，，2： | 1 |
| 12 | Chemoembolization followed by liver transplantation for hepatocellular carcinoma impedes tumor progression while on the waiting list and leads to excellent outcome显示文摘 | Ivo W. Graziadei Heiko Sandmueller Peter Waldenberger Alfred Koenigsrainer Karin Nachbaur Werner Jaschke Raimund Margreiter Wolfgang Vogel | 2003 | Liver Transplantation2003，，6： | 1 |
| 13 | Endogenous Skill Bias显示文摘 | Funk Peter Thorsten Vogel | 2004 | Journal of Economic Dynamics & Control2004，，28： | 1 |
| 14 | Targeted disruption of leucine‐rich repeat kinase 1 but not leucine‐rich repeat kinase 2 in mice causes severe osteopetrosis显示文摘 | Weirong Xing Jeff Liu Shaohong Cheng Peter Vogel Subburaman Mohan Robert Brommage | 2013 | J Bone Miner Res2013，，9： | 1 |
| 15 | The structureof the antimicrobial active center of lactoferricin B bound tosodium dodecyl sulfate micelles 显示文摘 | David J Schibli Peter M Hwang Hans J Vogel | 1999 | FEBS Letters1999，446，： | 1 |
| 16 | The NLRP3inflammasome protects against loss of epithelial integrity andmortality during experimental colitis显示文摘 | Hasan Zaki Kelli L Boyd Peter Vogel | 2010 | Immunity2010，32，： | 1 |
| 17 | Chemoembolization followed by liver transplantation for hepatocellular carcinoma impedes tumor progression while on the waiting list and leads to excellent outcome显示文摘 | Ivo W. Graziadei Heiko Sandmueller Peter Waldenberger Alfred Koenigsrainer Karin Nachbaur Werner Jaschke Raimund Margreiter Wolfgang Vogel | 2003 | Liver Transplantation2003，，6： | 1 |
| 18 | Dynamo显示文摘 | Giuseppe DeCandia Deniz Hastorun Madan Jampani Gunavardhan Kakulapati Avinash Lakshman Alex Pilchin Swaminathan Sivasubramanian Peter Vosshall Werner Vogels | 2007 | ACM SIGOPS Operating Systems Review2007，，6： | 1 |
| 19 | Chemoembolization followed by liver transplantation for hepatocellular carcinoma impedes tumor progression while on the waiting list and leads to excellent outcome显示文摘 | Ivo W. Graziadei Heiko Sandmueller Peter Waldenberger Alfred Koenigsrainer Karin Nachbaur Werner Jaschke Raimund Margreiter Wolfgang Vogel | 2003 | Liver Transplantation2003，，6： | 1 |
| 20 | Selectivity for 3D shape that reveals distinct areas within macaque inferior temporal cortex显示文摘 | Peter Janssen Rufin Vogels Guy A Orban | 2000 | Science2000，288，： | 1 |
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