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| 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 | 胆固醇酯转移蛋白基因的蛋白质截断型变异体与冠状动脉性心脏病风险的关系显示文摘随机对照试验结果表明,抑制胆固醇酯转运蛋白(cholesteryl ester transfer protein,CETP)的疗法并不能降低冠状动脉性心脏病(coronary heart disease,CHD)的发生风险。研究失败的可能原因包括靶目标无效、靶目标外小分子的不良反应和随机对照设计因素影响等。在编码药物靶点的基因中具有天然存在的遗传变异,以此为基础,人类研究可以深入了解针对基因产物的治疗的潜在功效和安全性。 | Nomura A Won HH Khera AV Takeuchi F Ito K McCarthy S Emdin CA Klarin D Natarajan P Zekavat SM Gupta N Peloso GM Borecki IB Teslovich TM Asselta R Duga S Merlini PA Correa A Kessler T Wilson JG Bown MJ Hall AS Braund PS Carey DJ Murray MF Kirchner HL Leader JB Lavage DR Manus JN Hartze DN Samani NJ Schunkert H Marrugat J Elosua R McPherson R Farrall M Watkins H Juang JJ Hsiung CA Lin SY Wang JS Tada H Kawashiri MA Inazu A Yamagishi M Katsuya T Nakashima E Nakatochi M Yamamoto K Yokota M Momozawa Y Rotter JI Lander ES Rader DJ Danesh J Ardissino D Gabriel S Willer CJ Abecasis GR Saleheen D Kubo M Kato N Ida Chen YD Dewey FE Kathiresan S 刘莉 叶鹏 | 2017 | 中华高血压杂志2017，25，9： | 2 |
| 3 | Relationship between water mobility and distribution and sensory attributes in pork slaughtered at an age between 90 and 180 days 显示文摘 | Hanne Christine Bertram Ida K Straadt Jens A Jensen Margit Dall Aaslyng | 2007 | Meat Science2007，77，： | 1 |
| 4 | Incremental value ofT2-we i gh t ed and d i f f us i on-weighted MRI for predictionof biochemical recurrenceafter radical prostatectomy inclinically localized prostatecancer 显示文摘 | N i sh ida K Yuen S Kamo i K et a 1 | 2011 | Acta Radiol2011，52，2： | 1 |
| 5 | Clinical and genetic studies of Japanese homozygotes disease L444P muta- tion显示文摘 | IDA H RENNERT O M IWASAWA K | 1999 | Hum Genet1999，105，12： | 1 |
| 6 | Disturbances of Glucose Metabolism in Men Referred for Coronary Arteriography 显示文摘 | Irina K Ida K Jolanta P | 2001 | Diabetes Care2001，24，： | 1 |
| 7 | Clinical outcome of surgical per-iodontal therapy:a short-term retrospective study显示文摘 | Hayakawa H Fujinami K Ida A | | 0，，04： | 1 |
| 8 | Multirow machine layout problem in fuzzy environment using genetic algorithms 显示文摘 | Gen M Ida K Cheng C | 1995 | Computers and Industrial Engineering1995，29，1： | 1 |
| 9 | Molecular characterization of inv dup del (8p):analysis of five cases显示文摘 | Shimokawa O Kurosawa K Ida T | 2004 | Am J Med Genet A2004，128，： | 1 |
| 10 | Effect of lateral cerebroventricular injection of the appetite-stimulating neuropeptide, orexin and neuropeptide Y, on the various behavioral activities of rats显示文摘 | Ida T Nakahara K Katayama T | 1999 | Brain Res1999，821，： | 1 |
| 11 | Microendo- scopic discectomy in athletes 显示文摘 | Yoshimoto M Takebayashi T Ida K | 2013 | J Orthop Sci2013，18，6： | 1 |
| 12 | Fluid-attenuated inversion recovery intraarterial signal:an early sign of hyperacute cerebral ischemia显示文摘 | Toyoda K Ida M Fukuda K | | 0，，： | 1 |
| 13 | Effect of early forfomycin treatment on prevention of hemolytic uremic syndrome accompanying Escherichia Coli O157:H7 infection显示文摘 | Ida O Kimoto K | 1999 | Clin Nephrol1999，52，6： | 1 |
| 14 | Characterization of polypeptides that accumulate in cultured Nicotiana tabacum cells显示文摘 | Takeda S Sato F Ida K | 1990 | Plant Cell Physiology1990，31，： | 1 |
| 15 | C57BL/6 mice are more susceptible to antigen-induced pulmonary eoslnophilia than BALB/c mice, irrespective of systemic T helper 1/T helper 2 responses显示文摘 | MOROKATA T ISHIKAWA J IDA K | 1999 | Immunology1999，98，3： | 1 |
| 16 | Characterization of YM-90709 as a novel antagonist which inhibits the binding of interleukin-5 to interleukin-5 receptor显示文摘 | Morokata T Ida K Yamada T | 2002 | Int Immunopharmacol2002，2，12： | 1 |
| 17 | Neural network approach for multicriteria solid transportation problem显示文摘 | Li Y Ida K Gen M Kobuchi R | 1977 | Computers and Industrial Engineering1977，33，： | 1 |
| 18 | Staging of idiopathic choroidal neovascularization by optical coherence tomography 显示文摘 | Fukuchi T Takahashi K Ida H | 2001 | Graefe''s Arch Clin Exp Ophthalmol2001，239，： | 1 |
| 19 | Factors affecting successful prognosis of root canal treatment 显示文摘 | Matsumoto T Nagai T Ida K | 1987 | J Endod1987，13，5： | 1 |
| 20 | Fluid-attenuated inversion recovery intraarterial signal:an early sign of hyperacute cerebral ischemia显示文摘 | Toyoda K Ida M Fukuda K | | 0，，06： | 1 |
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