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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 | Predictors of response and survival for neo - adjuvant treated patients with esophageal adenocareinoma 显示文摘 | Theisen J Danenberg K Ott K | 2008 | Dis Esophagus2008，21，7： | 1 |
| 3 | A human nuclear shuttling protein that interacts with human immunodeficiency virus type 1 matrix is packaged into viriom显示文摘 | Gupta K Ott D Hope TJ | 2000 | J Viral2000，74，11： | 1 |
| 4 | Target modification in the excimer laser deposition of YBa2Cu3O7- x thin films显示文摘 | Foltyn S R Dye R C Ott K C | 1991 | Appl Phys Lett1991，59，： | 1 |
| 5 | Broad diversity of neutralizing antibodies isolated from memory B cells in HIV-infected individuals显示文摘 | Scheid J F Mouquet H Feldhahn N Seaman M S Velinzon K Pietzsch J Ott R G Anthony R M Zebroski H Hurley A Phogat A Chakrabarti B Li Y Connors M Pereyra F Walker B D Wardemann H Ho D Wyatt R T Mascola J R Ravetch J V Nussenzweig M C | 2009 | Nature2009，458，7238： | 1 |
| 6 | Dynamic colloidal processes in water- borne two -component polyurethanes and their effects on solution and film morphology 显示文摘 | Otts D B Pereira K J Jarret W L | 2005 | Polymer2005，46，13： | 1 |
| 7 | Acute lung injury is reduced in fit-1 mice endogenously synthesizing n-3 fatty acids显示文摘 | Mayer K Kiessling A Ott J | 2009 | Am Respir Crit Care Med2009，179，6： | 1 |
| 8 | Tuning RED for web traffic 显示文摘 | Christiansen M Jeffay K Ott D | 2000 | IEEE/ACM Transactions on Networking2000，9，3： | 1 |
| 9 | Large-Scale Preparation of B-Lactoglobulin a and B by Ultrafiltration and Ion-Exchange Chromatography显示文摘 | KRISTIANSEN K R OTTE J IPSEN R | 1998 | International Dairy Journal1998，7，： | 1 |
| 10 | 23-Year-Old Female with an In- flammatory Myofibrob]astic Tumour of the Breast: A Case Report and a Review of the Literature 显示文摘 | Bosse K Ott C Biegner T | 2014 | Geburtshilfe Frauenheilkd2014，74，2： | 1 |
| 11 | Oblimersen in combination with temozolomide and albumin-bound paclitaxel in patients with advanced melanoma: a phase Ⅰ trial显示文摘 | Ott PA Chang J Madden K | 2013 | Cancer Chemother Phar- macol2013，71，1： | 1 |
| 12 | C-met protooncogene expression and its regulation by cytokines in the regenerating pancreas and in pancreatic cancer cells 显示文摘 | Otte JM Kiehne K Schmitz F | 2000 | Scand J Gastroenterol2000，35，1： | 1 |
| 13 | Accuracy of the quasistatic treatment of spatial reactor kinetics 显示文摘 | OTT K O MENELEY D A | 1969 | Nucl Sci Eng1969，36，： | 1 |
| 14 | Basotect melamine based foam显示文摘 | Ott K Gilligan B P | 1991 | Cellular Polymers1991，10，4： | 1 |
| 15 | Conductivity type conversion of p-type CuInSe2 due to hydrogenation显示文摘 | Otte K Lippold G Hirsch D | 2001 | Applied Surface Science2001，179，14： | 1 |
| 16 | Reproductive outcome after hystero- scopie septoplasty in patients with septate uterus-a retrospective co- hort study and systematic review of the literature 显示文摘 | Nouri K Ott J Huber JC | 2010 | Reprod Biol Endoerinol2010，21，8： | 1 |
| 17 | Tuning RED for Web traffic显示文摘 | Christiansen M Jeffay K Ott D | 2000 | ACM Computer Communication Review2000，30，4： | 1 |
| 18 | FDG PET imaging of locally advanced gastric carcinomas: correlation with endoscopic and histopathological findings显示文摘 | Stahl A Ott K Weber W A | 2003 | Eur J Nucl Meal Mol Imaging2003，30，2： | 1 |
| 19 | FDG PET imaging of locally advanced gastric carcinomas: correlation with endoscopic and histopathological findings显示文摘 | Stahl A Ott K Weber WA | 2003 | Eur J Nucl Med Mol Imaging2003，30，2： | 1 |
| 20 | Early metabolic response e- valuation by ^18F-fluorodeoxyglucose positron emission tomography allows in vivo testing of chemosensitivity in gastric cancer: long- term results of a prospective study 显示文摘 | Ott K Herrmann K Lordick F | 2008 | Clin Cancer Res2008，14，： | 1 |
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