|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | 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 |
| 2 | Helicobacter pylori infection prevents allergic asthma in mouse models through the induction of regulatory T cells显示文摘 | Arnold Isabelle C Dehzad Nina Reuter Sebastian Martin Helen Becher Burkhard Taube Christian Müller Anne | 2011 | Journal of Clinical Investigation2011，，8： | 4 |
| 3 | Challenging aspects of treatment strategies in heart failure with preserved ejection fraction: “Why did recent clinical trials fail?”显示文摘Heart failure(HF) is the leading cause of hospitalization among older adults and the prevalence is growing with the aging populations in the Western countries. Epidemiologic reports suggest that approximately 50% of patients who have signs or symptoms of HF have preserved left ventricular ejection fraction. This HF type predominantly affects women and the elderly with other co-morbidities, such as diabetes, hypertension, and overt volume status. Most of the current treatment strategies are based on morbidity benefits such as quality of life and reduction of clinical HF symptoms. Treatment of patients with HF with preserved ejection fraction displayed disappointing results from several large randomized controlled trials. The heterogeneity of HF with preserved ejection fraction, understood as complex syndrome, seems to be one of the primary reasons. Here, we present an overview of the current management strategies with available evidence and new therapeutic approach from drugs currently in clinical trials, which target diastolic dysfunction, chronotropic incompetence, and risk factor management. We provide an outline and interpretation of recent clinical trials that failed to improve outcome and survival in patients with HF with preserved ejection fraction. | Peter Moritz Becher Nina Fluschnik Stefan Blankenberg Dirk Westermann | 2015 | World Journal of Cardiology2015，7，9： | 3 |
| 4 | RORγ-Expressing Th17 Cells Induce Murine Chronic Intestinal Inflammation via Redundant Effects of IL-17A and IL-17F显示文摘 | Moritz Leppkes Christoph Becker Ivaylo I. Ivanov Sebastian Hirth Stefan Wirtz Clemens Neufert Sandrine Pouly Andrew J. Murphy David M. Valenzuela George D. Yancopoulos Burkhard Becher Dan R. Littman Markus F. Neurath | 2009 | Gastroenterology2009，，1： | 2 |
| 5 | Low-actuation voltage RF MEMS shunt switch with cold switching lifetime of seven billion cycles 显示文摘 | CHAN R LESNICK R BECHER D | 2003 | Journal of Microelectromechanical Systems2003，12，5： | 1 |
| 6 | The association of leukocyte count, fibrinogen and C reactive prolein with vascular risk factors and ischemic vascular disease显示文摘 | Graw AJ Buggle F Becher H | 1996 | Thromb Res1996，82，： | 1 |
| 7 | Interferon-g modulates human oligodendrocyte susceptibility to Fas-mediated apoptosis 显示文摘 | Pouly S Becher B Blain M Antel J P | 2000 | J Neuropathol Exp Neurol2000，59，： | 1 |
| 8 | The construct of re- silience: a critical evaluation and guidelines for future work显示文摘 | Luthar S S Cicchetti D Becher B | 2000 | Child Dev2000，71，3： | 1 |
| 9 | JAm Ceram Soc显示文摘 | Sun E Y Becher P F Plucknett K P | 1998 | 81 (11): 2 831~2 8401998，81，11： | 1 |
| 10 | Cardiac imaging with rapid, retrospective ECG synchronized multilever spiral CT显示文摘 | Ohnesorge B Flohr T Becher C | 2000 | Radiology2000，40，： | 1 |
| 11 | Multiple-bridged bis-tetrathiafulvalenes:new synthetic protocols and spectroelectrochemicalinvestigations显示文摘 | Spanggard H Prehn J Becher J | 2000 | J Am Chem Soc2000，122，： | 1 |
| 12 | Primry prevention of ischemic stroke : a statement for health cam professionals from the Subke Council of the American Heart显示文摘 | Coidstein LB Adams R Becher K | 2001 | Associa- tion Circulation2001，103，1： | 1 |
| 13 | Periodontal disease as a risk factor for ischemic stroke 显示文摘 | Grau AJ Becher H Ziegler CM | 2004 | Stroke2004，35，2： | 1 |
| 14 | The concept of residual confounding in regression models and some apphcations显示文摘 | Becher H | 1992 | Stat Med1992，11，13： | 1 |
| 15 | The influence of the diatary intake of fatty acids and antioxidants on hay fever in adults 显示文摘 | Nagel G Nieter A Becher N | 2003 | Allergy2003，58，19： | 1 |
| 16 | Imaging of noncalcified coronary plaques using helical CT with retrospective ECG gating显示文摘 | Knez A Ohnesorge B | 2000 | AJR2000，175，： | 1 |
| 17 | Press-forged Al2 O3 -rich spinel srystals for IR application 显示文摘 | Becher P F | 1977 | Am Ceram Soc Bull1977，56，11： | 1 |
| 18 | Microstructund design of silicon nitride with improved fracture toughness: Ⅰ, Effect of grain shape and size 显示文摘 | Becher P F Son E Y Plucknett K P | 1998 | J Am Ceram Soc1998，81，11： | 1 |
| 19 | Pediatric rehabilitation in children with cerebral palsy: general management, classification of motor disorders 显示文摘 | Becher J G | 2002 | J Ortho Prosth2002，14，4： | 1 |
| 20 | Efficient frequency down conver- sion at the single photon level from red spectral region to the telecom- munication C-band 显示文摘 | Zaske S Lenhard A BECHER C | 2011 | Optics Express2011，19，12： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员