Wyniki wyszukiwania

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Efficient SNP analysis enabled by joint application of the micro TGGE and heteroduplex methods

100%

Salimullah M., Hamano K., Tachibana M., Inoue K., Nishigaki K.

Cellular and Molecular Biology Letters

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2005

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tom 10

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nr 2

2

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Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

86%

Popowska E., Sulek A., Kubalska J., Pronicka E., Jezewska M., Trembacz H., Goryluk-Kozakiewicz B., Krajewska-Walasek M.

Journal of Applied Genetics

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1998

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tom 39

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nr 1

Five families with the Lesch-Nyhan syndrome (LNS) and two families with the Kelley-Seegmiller syndrome (KSS) were studied. Seven different mutations were identified. Two transitions, C526→ T (Prol76Ser) and G481→A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569→A (Glyl90Glu) and C508→T (Arg170Ter), two transversions, C222→A (Phe74Leu) and C482→A (Ala161Glu), and a deletion of seven nucleotides (from A394 to G400) were observed. All except two of the identified mutations are novel. The C222→A substitution in exon III is located within one of the clusters of hot spots of the HPRT gene and has been previously described in four unrelated patients. The other recurrent mutation C508→T in exon VII has been reported in eight families.

3

Identification of point mutation in c-FOS gene from displastic cells and squamous cell cervical neoplasms

72%

Kwasniewska A., Gozdzicka-Jozefiak A., Skoczynski M., Kuzma D., Pochylski T.

Polish Journal of Environmental Studies

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2004

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tom 13

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nr Suppl.2, Part 1

Human Papillomavirus (HPV) is one of the DNA viruses which are closely related to cervical carcinogenesis. c-FOS plays a key role in initiation and maintenance of expression of HPV E6 and E7 oncoproteins in cervical carcinogenesis combined with infection with oncogenic types of HPV. AP-1 is considered to be a positive regulator which recognizes sequences in 5'HPV DNA regulatory region (LCR). Mutations in FOS gene, nuclear transcription factor coding proteins binding to specific DNA sequences occur with a frequency of 20-25% in various neoplasms in humans. The purpose of the study was identification of point mutation in c-FOS gene from cervical squamous carcinoma cells, high grade cervical intraepithelial neoplasia cells and normal cervical epithelium.The study group consisted of 35 postoperative tissues from patients diagnosed with high grade dysplasia and 29 postoperative tissues from patients diagnosed with squamous cell cervical carcinoma. The control group consisted of normal cervical tissue specimens obtained from 33 patients that underwent hysterectomy due to uterine leiomyomas. Identification of point mutation in c-FOS gene exon 4 was performed using PCR - SSCP technique. Mutation in 450 nucleotide fragment of c-FOS gene was found in none of the studied samples.

4

Mutations of the KRAS oncogene in endometrial hyperplasia and carcinoma

72%

Dobrzycka B., Terlikowski S. J., Mazurek A., Kowalczuk O., Niklinska W., Chyczewski L., Kulikowski M.

Folia Histochemica et Cytobiologica

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2009

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tom 47

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nr 1

65-68

5

Governing the monomer-dimer ratio of human cystatin C by single amino acid substitution in the hinge region

72%

Szymanska A., Radulska A., Czaplewska P., Grubb A., Grzonka Z., Rodziewicz-Motowidlo S.

Acta Biochimica Polonica

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2009

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tom 56

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nr 3

455-463

Three dimensional domain swapping is one of the mechanisms involved in formation of insoluble aggregates of some amyloidogenic proteins. It has been proposed that proteins able to swap domains may share some common structural elements like conformationally constrained flexible turns/loops. We studied the role of loop L1 in the dimerization of human cystatin C using mutational analysis. Introduction of turn-favoring residues such as Asp or Asn into the loop sequence (in position 57) leads to a significant reduction of the dimer fraction in comparison with the wild type protein. On the other hand, introduction of a proline residue in position 57 leads to efficient dimer formation. Our results confirm the important role of the loop L1 in the dimerization process of human cystatin C and show that this process can be to some extent governed by single amino acid substitution.

6

Mutations in the KRAS gene in ovarian tumors

72%

Dobrzycka B., Terlikowski S. J., Kowalczuk O., Niklinska W., Chyczewski L., Kulikowski M.

Folia Histochemica et Cytobiologica

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2009

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tom 47

|

nr 2

221-224

7

Domain truncation, point mutation, and surrogation for structure based kinase inhibitor design

72%

Breitenlechner C. B., Huber R., Bossemeyer D., Gassel M., Masjost B., Engh R. A.

Cellular and Molecular Biology Letters

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2005

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tom 10

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nr Suppl.2

8

Plasmodium falciparum Pfs25 gene promoter has no polymorphism in natural isolates of Eastern India

58%

Raj D. K., Mishra S., Das B. R., Dash A. P.

Acta Protozoologica

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2005

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tom 44

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nr 4

9

Diagnostyka molekularna niedoboru syntetazy argininobursztynianowej u bydla

44%

Janik A.

Biuletyn Informacyjny. Instytut Zootechniki

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2000

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tom 38

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nr 4

21-28

Ograniczanie wyników

Efficient SNP analysis enabled by joint application of the micro TGGE and heteroduplex methods

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

Identification of point mutation in c-FOS gene from displastic cells and squamous cell cervical neoplasms

Mutations of the KRAS oncogene in endometrial hyperplasia and carcinoma

Governing the monomer-dimer ratio of human cystatin C by single amino acid substitution in the hinge region

Mutations in the KRAS gene in ovarian tumors

Domain truncation, point mutation, and surrogation for structure based kinase inhibitor design

Plasmodium falciparum Pfs25 gene promoter has no polymorphism in natural isolates of Eastern India

Diagnostyka molekularna niedoboru syntetazy argininobursztynianowej u bydla