Wyniki wyszukiwania

1

Gene mutations causing hereditary diseases in dogs

100%

Switonski M.

Animal Science Papers and Reports

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2004

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tom 22

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nr 1

2

Loss of heterozygosity at BRCA1-2 loci in hereditary and sporadic ovarian cancers

75%

Brozek I., Ochman K., Debniak J., Morzuch L., Ratajska M., Stepnowska M., Stukan M., Emerich J., Limon J.

Journal of Applied Genetics

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2009

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tom 50

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nr 4

379-384

Loss of heterozygosity at BRCA 1/2 loci in breast and ovarian tumors is a suggested risk factor for germline BRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q. Losses of heterozygosity of at least one microsatellite marker localized on chromosomes 17 and 13q were revealed in 123 (81.5%) and 104 (68.9%) tumors, respectively. Losses of all informative markers on chromosomes 17 and 13 occurred in 30 (19.9%) and 31 (20.5%) tumors, respectively. There was no difference in the frequency of losses at BRCA1 intragenic markers (D17S855 and D17S1323) between BRACA1-positive and BRCA1-negative patients. The frequency of losses on chromosome 17 was higher in high-grade than in low-grade carcinomas. Loss of heterozygosity on chromosomes 17 and 13q is a frequent phenomenon in both hereditary and sporadic ovarian cancers. The frequency of losses at BRCAl intragenic markers in the ovarian tumor tissue is not strongly related to the presence of BRCAl germline mutations.

3

The kinetics of haemolysis of spherocytic erythrocytes

75%

Pazdzior G., Langner M., Chmura A., Boguslawska D., Heger E., Chorzalska A., Sikorski A. F.

Cellular and Molecular Biology Letters

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2003

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tom 08

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nr 3

Spherocytosis is a hereditary disease. It results from mutations in genes that encode proteins participating in the attachment of the membrane skeleton to the plasma membrane bilayer of the erythrocyte. In affected cells, interaction between the spectrin-actin meshwork and integral membrane proteins is altered. This results in the weakening of plasma membrane mechanical resistance and diminishing its elasticity. Since defective cells are prone to mechanical destruction and phagocytosis in the spleen, the fraction of morphologically-altered erythrocytes is rather small; this in turn means such an examination is prone to errors. In this paper, we describe a simple method which could be useful in the identification of red blood cells with altered osmotic properties. The method is based on the measurement of the amount of light scattered by a suspension of the red blood cells, during which cells are exposed to osmotic stress in the stopped-flow regime. The obtained plots are fitted to a mathematical formula, the parameters of which can be used as quantitative indicators of the changes in red blood cells' osmotic features. Two types of spherocytotic samples were examined: those with a proven deficiency in ankyrin and those with a decrease in the band 3 anion transporting protein. The presented data show that this method gives a reliable indication of altered osmotic properties of the spherocytic cells.

4

The dog genome map and its use in mammalian comparative genomics

75%

Switonski M., Szczerbal I., Nowacka J.

Journal of Applied Genetics

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2004

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tom 45

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nr 2

5

Dog as a model in studies on human hereditary diseases and their gene therapy

63%

Switonski M.

Reproductive Biology

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2014

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tom 14

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nr 1

6

Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-[2-nitro-4-[trifluoromethyl]benzoyl]-1,3-cyclohexanedione

63%

Molchanov S., Gryff-Keller A.

Acta Biochimica Polonica

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2009

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tom 56

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nr 3

447-454

Triketone herbicides are inhibitors of 4-hydroxyphenylpyruvate dioxygenase (HPPD), a key enzyme of the tyrosine transformation pathway, common for plants and animals. One of these herbicides, 2-[2-nitro-4-(trifluoromethyl)benzoyl]-1,3-cyclohexanedione (NTBC), is so selective and efficient that it can be applied as a medicine in a hereditary metabolic disease - tyrosinemia type I. In this paper the available information concerning the molecular mechanism of HPPD inhibition by NTBC, originating from experimental investigations as well as theoretical modeling, has been collected. It is supplemented by results of additional theoretical DFT and/or MP2 calculations of the energetic effects of individual elementary molecular transformations. All these data are discussed and a consistent picture of HPPD inhibition by NTBC is proposed.

7

Some problems and prospects in the research of red cell skeletal proteins

63%

Boivin P.

Cellular and Molecular Biology Letters

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1996

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tom 01

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nr 1

8

Fur animal health - current status

63%

Henriksen P.

Zeszyty Naukowe. Przegląd Hodowlany

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1996

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tom 27

9

Wybrane zaburzenia steroidogenezy nadnerczowej ludzi i zwierzat o charakterze dziedzicznym

51%

Brzezinska K., Kosowska B., Moska M., Strzala T.

Acta Scientiarum Polonorum. Medicina Veterinaria

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2006

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tom 05

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nr 1

3-9

10

Effectiveness of modified Chiari osteotomy and intertrochnateric osteotomy in the treatment of canine hip dysplasia

51%

Aleksiewicz R., Adamiak Z., Fabisz R., Niedziela D., Bojarski M.

Bulletin of the Veterinary Institute in Puławy

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2010

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tom 54

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nr 3

This paper describes the results of Chiari osteotomy (CO) with simultaneous intertrochanteric osteotomy (IO) in dogs affected by bilateral hip dysplasia, score grade D. The dogs classified for the study were subjected to the following tests before and after surgery: abduction-external rotation test, hip extension test, dorso-lateral subluxation test (DLST), stand test, Ortolani sign, Barlow sign, measurements of the angle of flexion, angle of extension, angle of abduction, angle of adduction, and radiographic examinations determining the score grade for canine hip dysplasia in accordance with the scoring system recommended by the Fédération Cynologique Internationale. The test which most accurately reflected the post-operative improvement in patients was DLST where the negative response increased by 73% after CO and IO procedures. Changes in angle of inclination (AI) values were correlated with an improvement in hip functioning as a result of the administered treatment. The simultaneous application of CO and IO in dogs affected by hip dysplasia resulted in greater improvement of limb functioning in comparison with conventional IO.

Ograniczanie wyników

Gene mutations causing hereditary diseases in dogs

Loss of heterozygosity at BRCA1-2 loci in hereditary and sporadic ovarian cancers

The kinetics of haemolysis of spherocytic erythrocytes

The dog genome map and its use in mammalian comparative genomics

Dog as a model in studies on human hereditary diseases and their gene therapy

Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-[2-nitro-4-[trifluoromethyl]benzoyl]-1,3-cyclohexanedione

Some problems and prospects in the research of red cell skeletal proteins

Fur animal health - current status

Wybrane zaburzenia steroidogenezy nadnerczowej ludzi i zwierzat o charakterze dziedzicznym

Effectiveness of modified Chiari osteotomy and intertrochnateric osteotomy in the treatment of canine hip dysplasia