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| 1 | High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease显示文摘AIM: To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson's disease (WD) in Lithuania. METHODS: Eleven unrelated Lithuanian families, including 13 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system. Genomic DNA was extracted fromwhole venous blood using a salt precipitation method. Firstly, the semi-nested polymerase chain reaction (PCR) technique was used to detect the c.3207C>A (p.H1069Q) mutation. Patients not homozygous for the c.3207C>A (p.H1069Q) mutation were further analyzed. The 21 exons of the WD gene were amplified in a thermal cycler (Biometra T3 Thermocycler, G?ttingen, Germany). Direct sequencing of the amplified PCR products was performed by cycle sequencing using fluorescent dye terminators in an automatic sequencer (Applied Biosystems, Darmstadt, Germany). RESULTS: Total of 13 WD patients (mean age 26.4 years; range 17-40; male/female 3/10) presented with hepatic disorders and 16 their first degree relatives (including 12 siblings) were studied. Some of WD patients, in addition to hepatic symptoms, have had extrahepatic disorders (hemolytic anemia 3; Fanconi syndrome 1; neurophsychiatric and behavioural disorder 2). Liver biopsy specimens were available in all of 13 WD patients (8 had cirrhosis; 1-chronic hepatitis; 3-acute liver failure, 1-liver steatosis). Twelve of 13 (92.3%) WD patients had the c.3207C>A (p.H1069Q) mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C>T (p.R1041W) or unknown mutations. For one patient with liver cirrhosis and psychiatric disorder (Leipzig score 6), no mutations were found. Out of 16 first degree WD relatives, 11 (68.7%) were heterozygous for the c.3207C>A (p.H1069Q) mutation. Two patients with fulminant WD died from acute liver failure and 11 are in full remission under penicillamine or zinc acetate treatment. Three women with WD successfully delivered healthy babies. CONCLUSION: The c.3207C>A (p.H1069Q) missense mutation is the most characteristic mutation for Lithuanian patients with WD. Even 92.3% of WD patients with hepatic presentation of the disease are homozygous or compound heterozygotes for the p.H1069Q mutation. | Laimutis Kucinskas Jolanta Jeroch Astra Vitkauskiene Raimundas Sakalauskas Vitalija Petrenkiene Vaidutis Kucinskas Rima Naginiene Hartmut Schmidt Limas Kupcinskas | 2008 | World Journal of Gastroenterology2008，14，38： | 5 |
| 2 | Patterns of airway inflammation and MMP - 12 expression in smokers and ex -smokers with COPD显示文摘 | Babusyte A Stravinskaite K Jeroch J Lotvall J Sakalauskas R Sitkauskiene B | 2007 | Respir Res2007，14，8： | 1 |
| 3 | Lysine requirement of growing male Peking ducks显示文摘 | Timmler R Bons A Jeroch H | 2002 | British Poultry Sci2002，43，： | 1 |
| 4 | Xylanase supplementation of wheat - based rations for broilers: influence of wheat characteristics显示文摘 | Dusel G Kluge H Jeroch | 1998 | Journal of Applied Poultry Research1998，7，2： | 1 |
| 5 | Investigations on the influence of a xylanase supplement in wheat based energy-graded diets on the performance of laying hens 显示文摘 | Oloffs K Samli E Jeroch H | 2000 | Journal of Animal Physiology and Animal Nutrition2000，84，： | 1 |
| 6 | Lysine require- ment of growing male Pekin ducks 显示文摘 | BONS A TIMMLER R JEROCH H | 2002 | British Poultry Science2002，43，5： | 1 |
| 7 | Baley in poultry feeding:A review 显示文摘 | Jeroch H Danicke S | 1995 | Journal of World''s Poultry Science1995，51，： | 1 |
| 8 | Xylanase supplementation of wheat-based rations for broilers: Influence of wheat characteristics显示文摘 | Dusel G Kluge H Jeroch H | 1998 | J Appl Pouh Res1998，，7： | 1 |
| 9 | Effects of dietary fat type and xylanase supplementation to rye-based broiler diets on selected bacterial groups adhering to the intestinal epithelium,on transit time of feed,and on nutrient digestibility显示文摘 | Danicke S Vahjen W Simon O Jeroch H | 1999 | Pout Sci1999，78，： | 1 |
| 10 | Feeding value of wheat and wheat-based diets with different content of soluble pentosans when fed to broiler chickens without or with enzyme supplementation显示文摘 | Seskeviciene J Jeroch H Danicke S | 1999 | Arch Geflugelkd1999，63，： | 1 |
| 11 | The influence of enzyme preparations on the nutritional value of ferias for poultry: a review 显示文摘 | Jeroch H Danicke S Brufan J | 1995 | Journal of Animal feed Science1995，4，： | 1 |
| 12 | Replacement of soybean oil with tallow in rye-based diets without xylanase increases protein synthesis in small intestine of broilers 显示文摘 | D~NICKE S BOTYCHER W JEROCH H | 2000 | J Nutr2000，130，4： | 1 |
| 13 | Investigations on the influence of a xylanase supplement in the wheat-based,energy-graded diets on the performance of laying hens显示文摘 | Oloffs K Samli E Jeroch H | 2000 | J Anim Physiol Anim Nutr2000，84，： | 1 |
| 14 | Investigations on the influence of a xy-lanase supplement in wheat-based, energy-graded diets on the performance of laying hens显示文摘 | Olloffs K Samli E Jeroch H | 2000 | Journal of Animal Physiol-ogy and Animal Nutrition2000，84，： | 1 |
| 15 | lnvestigationgs on the influence of a xylanase supplement in wheat based energy gradede diets on the performance of laying hens 显示文摘 | Ollofs K Samli E Jeroch H | 2000 | Jourmal of Animal Physiology and Animal Nutritiong2000，，84： | 1 |
| 16 | Pseudomonas aeruginosa padermiu,sukelusiu bakteriemija,sasajos su infekcijos zi diniu ir jq atsparumas antibiotikams显示文摘 | Asta Dambrauskiene Dalia Adukauskienel Jolanta Jeroch | 2009 | Medicina (Kaunas)2009，45，1： | 1 |
| 17 | Lysine requirement of growing male pekin ducks显示文摘 | Bons Timmler Jeroch H | 2002 | Br Poult Sci2002，43，： | 1 |
| 18 | The effect of induced sputum and bronchoalveolar lavage fluid from pa- tients with chronic obstructive pulmonary disease on neu- trophil migration in vitro显示文摘 | Babusyte A Jeroch J Stakauskas R | 2010 | Medicina (Kaunas)2010，46，5： | 1 |
| 19 | Lysine requirement of growing male Pekin ducks显示文摘 | Bonds A Timmler Jeroch H | 2002 | British Poultry Science2002，43，： | 1 |
| 20 | The influence of enzyme preparations on the nutritional value of ferias for poultry: a review 显示文摘 | Jeroch H Danicke S Brufau J | 1995 | Journal of Animal feed Science1995，4，： | 1 |
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