Search results

1

Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population

100%

Alharbi K., Kashour T., Al-Hussaini W., Nbaheen M., Hasanato R., Mohamed S., Tamimi W., Khan I.

|

EN

Familial hypercholesterolemia (FH) is caused by genetic defects involving the low density lipoprotein-receptor (LDL-R), predisposing affected people to premature atherosclerotic cardiovascular disease and death. The aim of the present study was to assess certain exons in the LDLR gene mutation detection analysis affecting in the Saudi population with FH. This case-control study was carried out with 200 subjects; 100 were FH cases and 100 were healthy controls. Five mL of venous blood samples were collected from all the subjects and used for biochemical and genetic analysis. DNA was extracted from 2 mL of the EDTA samples, and precise primers were designed for LDL-R gene which includes Exon 3, 4 and 8. PCR was followed by DNA sequencing. In our study, we found 25 mutations in cases in Exon-3 and 2 mutations in controls, however, we have found only 5 mutations in exon 4 and none of the mutations were identified in exon 8. We conclude that screening of FH among Saudi population is very important to identify individuals who are prone to develop the disease.

2

Identification of selected microorganisms from activated sludge capable of benzothiazole and benzotriazole transformation

88%

Kowalska K., Felis E.

|

issue 4

935-939

EN

Benzothiazole (BT) and benzotriazole (BTA) are present in the environment - especially in urban and industrial areas, usually as anthropogenic micropollutants. BT and BTA have been found in the municipal and industrial wastewater, rivers, soil, groundwater, sediments and sludge. The origins of those substances' presence in the environment are various industry branches (food, chemical, metallurgical, electrical), households and surface runoff from industrial areas. Increasingly strict regulations on water quality and the fact that the discussed compounds are poorly biodegradable, make them a serious problem in the environment. Considering this, it is important to look for environmentally friendly and socially acceptable ways to remove BT and BTA. The aim of this study was to identify microorganisms capable of BT and BTA transformation or/and degradation in aquatic environment. Selected microorganisms were isolated from activated sludge. The identification of microorganisms capable of BT and BTA removal was possible using molecular biology techniques (PCR, DNA sequencing). Among isolated microorganisms of activated sludge are bacteria potentially capable of BT and BTA biotransformation and/or removal. The most common bacteria capable of BT and BTA transformation were Rhodococcus sp., Enterobacter sp., Arthrobacter sp. They can grow in a medium with BT and BTA as the only carbon source. Microorganisms previously adapted to the presence of the studied substances at a concentration of 10 mg/l, showed a greater rate of growth of colonies on media than microorganisms unconditioned to the presence of such compounds. Results of the biodegradation test suggest that BT was degraded to a greater extent than BTA, 98-100% and 11-19%, respectively.

3

The genetics of the XXI century

75%

Węgleński P., Węgleński P.

Nauka

|

2020

|

issue 1

4

Resolving power of isothermic DNA sequencing chips

75%

Formanowicz P.

Bulletin of the Polish Academy of Sciences: Technical Sciences

|

2004

|

vol. 52

|

issue 3

5

Field and Laboratory Methods for DNA Studies on Deep-sea Isopod Crustaceans

63%

Riehl T., Brenke N., Brix S., Driskell A., Kaiser S., Brandt A.

Polish Polar Research

|

2014

|

issue 2

Refine search results

2 Acta Biochimica Polonica

1 Bulletin of the Polish Academy of Sciences: Technical Sciences

1 Nauka

1 Polish Polar Research

1 2020

2 2015

1 2014

1 2004

1 Al-Hussaini W.

1 Alharbi K.

1 Brandt A.

1 Brenke N.

1 Brix S.

1 Driskell A.

1 Felis E.

1 Formanowicz P.

1 Hasanato R.

1 Kaiser S.

1 Kashour T.

1 Khan I.

1 Kowalska K.

1 Mohamed S.

1 Nbaheen M.

1 Riehl T.

1 Tamimi W.

1 Węgleński P.

Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population

Identification of selected microorganisms from activated sludge capable of benzothiazole and benzotriazole transformation

The genetics of the XXI century

Resolving power of isothermic DNA sequencing chips

Field and Laboratory Methods for DNA Studies on Deep-sea Isopod Crustaceans