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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 | The origin and early diversification of angiosperms 显示文摘 | Crane P R Friis E M Pederson K J | 1995 | Nature1995，374，： | 1 |
| 3 | Development of early diagenetic silica and quartz morphologies-Examples from the Siri Canyon, Danish North Sea显示文摘 | Weibel R Friis H Kazerouni A M Svendsen J B Stokken- dal J Poulsen M L K | 2010 | Sedimentary Geology2010，228，： | 1 |
| 4 | Regulation of renin secretion by renal juxtaglomerular cells显示文摘 | Friis UG Madsen K Stubbe J | | 0，，1： | 1 |
| 5 | Toxicological Studies on Caltose Oxidase from Microduchium mivale expreused in Fusdrium Venenatum显示文摘 | Abmad S K Brinch D S Friis E P | | 0，，03： | 1 |
| 6 | Length of the solar cycle:An indicator of solar activity closely associated with climate显示文摘 | E Friis Christensen K Lassen | 1991 | Science1991，254，： | 1 |
| 7 | Testing and modelingof new tribo-systemsfor industrial sheet forming ofstainless steels显示文摘 | Nielsen P S Friis K S Bay N | 2011 | Journal of Engineering Tribology2011，225，10： | 1 |
| 8 | Predictive permeability variations in a Hermod sand reservoir, Stine Segments, Siri Field, Danish North Sea显示文摘 | Stokkendal J Friis H Svendsen J B Poulsen M L K Ham- berg L | 2009 | Marine and Petroleum Geology2009，26，： | 1 |
| 9 | Prolactin regulation of β-casein gene expression and of a cytosolic 120 KD protein in a cloned mouse mammary epithelial cell line显示文摘 | Ball R K Friis R R Schoenenberger C A | 1988 | EMBO1988，7，20： | 1 |
| 10 | Complentary feeding: a global persective显示文摘 | HAELSEN K F FRIIS H | 1998 | Nutirtion1998，14，10： | 1 |
| 11 | The origin and early diversification of angiosperms 显示文摘 | Crane P R Friis EM Pedersen K R | 1995 | Nature1995，374，6517： | 1 |
| 12 | Temperature dependence of anaerobic tce-dechlorination in a highly enriched dehalococcoides-containing culture显示文摘 | Friis A K Heimann A C Jakobsen R | 2007 | Water Research2007，41，： | 1 |
| 13 | Length of the solar cycle:An indi- cator of solar activity closely associated with climate 显示文摘 | Friis C E Lassen K | 1991 | Science1991，245，5032： | 1 |
| 14 | Malignant melanoma, breast cancer and other cancers in patients with Parkinson' s disease显示文摘 | Rugbjerg K Friis S Lassen CF | 2012 | IntJ Cancer2012，131，8： | 1 |
| 15 | Length of the solar cycle: An indicator of solar activity closely associated with climate显示文摘 | Friis C E Lassen K | 1991 | Science1991，245，： | 1 |
| 16 | Malignant melanoma and other types of cancer preceding Parkinson disease显示文摘 | Olsen JH Friis S Frederiksen K | 2006 | Epi demidogy2006，17，5： | 1 |
| 17 | Progress of emphysema in severe alpha 1-antitrypsin deficiency as assessed by annual CT显示文摘 | Dirksen A Friis M Olesen K P | 1997 | Acta Radiol1997，38，5： | 1 |
| 18 | Variability of the Solar cycle length during the past five centuries and the apparent assoeiatinn with terrestrial climate显示文摘 | Lassen K Friis - Christensen E | 1995 | Journal of Atmospheric and Solar - Terrestrial Physics1995，57，： | 1 |
| 19 | Grain size correlation during normal grain growth in one dimension 显示文摘 | Hunderi O Friis J Marthinsenb K | 2006 | Scripta Mater2006，55，： | 1 |
| 20 | The dexamethasone suppression test and DSM- III -R diagnoses in suicide attempters显示文摘 | Westrin A Frii K Traskman-Bendz L | 2003 | Eur Psychiatry2003，18，7： | 1 |
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