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1

Construction of synthetic gene coding for K2L-tPA ? deletion variant of tissue plasminogen activator. Expression in E. coli and renaturation of recombinant protein

100%
Sierant M., Okruszek A.
Biotechnologia
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2003
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issue 4
124-141
EN
2 The human fibrinolytic system comprises an inactive proenzyme ? plasminogen which can be converted to the active form ? plasmin which, in turn, degrades fibrin clots into soluble fibrin degradation products. Tissue plasminogen activator (t-PA) has been identified as a main physiological factor responsible for plasminogen - plasmin conversion. The high fibrin specificity of t-PA, which allows efficient activation on the surface of fibrin clots, has stimulated great interest in its preparation to be used for thrombolytic therapy. Several approaches have been followed to further improve the thrombolytic properties of recombinant t-PA by protein engineering to enhance its plasminogen - activating potency as well as fibrin specificity, and to reduce its plasma clearance. One of the approaches involves the conjugation of its deletion variant, so called K2L-tPA, to various biomolecules. K2L-tPA is a 351-aminoacid C-terminal fragment of human t-PA. The protein is composed of two major domains: Kringle-2 (K2), responsible for fibrin binding, and so-called Light Chain domain (L), containing active centre of the enzyme. In this paper, we describe our efforts on expression of synthetic gene coding for K2L-tPA, and on renaturation and purification of recombinant protein
2

Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24)

100%
Vasquez-Velasquez A. I., Arnaud-Lopez L., Figuera L. E., Padilla-Gutierrez J. R., Rivas F., Rivera H.
Journal of Applied Genetics
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2005
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vol. 46
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issue 4
415-418
EN
We describe here a 3-month-old male infant with brachy-plagyocephaly, short neck, widely spaced nipples, mild hypertonia, and ambiguous external genitalia but with both testes in the scrotum and no Mullerian derivates. His karyotype was 45,X,der(Y;9)(q12;p24).ish der(Y;9)(DYZ3+,SRY+,9ptel?) de novo. This patient's impaired sex differentiation is consistent with gonadal dysgenesis and compares with the male-to-female sex reversal secondary to a partial 9p deletion in spite of an intact Yp or SRY locus documented in 24 patients including a sex-reversed girl with a (Y;9) dicentric derivative. As for the cytogenetic findings, this case represents the second instance of a de novo pseudodicentric (Y;9) chromosome with loss of both distal 9p and Yq12 regions, apparent intactness of SRY, and consistent or preferential inactivation of the Y centromere. In addition, the possible 9p23p-p22 duplication observed in this case evokes the concomitant 9p22-p21 duplication documented in the previous girl with a (Y;9) derivative. Hence, these striking similarities point to a nonrandom Y;9 rearrangement in patients with either sex reversal or gonadal dysgenesis. Even if the present pseudodicentric derivative had inactivated the Y centromere, the existence of some variant cells points to functional dicentricity as it has been documented in other Y;autosome dicentric derivatives.
3

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism

100%
Simioni M., Freitas E. L., Vieira T. P., Lopes-Cendes I., Gil-da-Silva-Lopes V. L.
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vol. 51
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issue 2
219-221
EN
Midline facial defects with hypertelorism (MFDH) are mainly characterized by ocular hypertelorism and bifid nose. They are often associated with structural and functional anomalies of the central nervous system similar to those found in 22q11.2 deletion syndromes. In addition, there are some isolated reports of MFDH and 22q11.2 deletion. These findings suggest that MFDH may be part of the spectrum of 22q11.2 deletion syndromes. To test this hypothesis, 10 individuals with MFDH were analyzed by fluorescent in situ hybridization (FISH), but no 22q11.2 deletion was detected. In view of this result, the TBX1 gene located within the 22q11.2 candidate region was screened. A new sequence variant (1132GA) was identified in one patient. This variant was not found in 110 control individuals genotyped. Considering the rarity of this condition and results of this study, the involvement of the 22q11.2 chromosomal region in the pathogenesis of MFDH could not be excluded.
4

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

100%
Bogdanowicz J., Pawlowska B., Ilnicka A., Gawlik-Zawislak S., Jozwiak A., Sobiczewska B., Zdzienicka E., Korniszewski L., Zaremba J.
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vol. 51
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issue 2
215-217
EN
Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions, an unbalanced translocation involving chromosomes 1 and 12 with 1p36 deletion, and a de novo balanced translocation involving chromosomes 19 and 22. Thus, 3 cases of 1p36 subtelomeric deletion were found (3.95%). To confirm subtelomeric rearrangements in 2 patients, comparative genomic hybridization (CGH) was applied. Moreover, 3 cases of polymorphism without phenotypic effects were found: in 2 patients, the polymorphism involved the long arm of chromosome 2 (maternal derivative in both patients), while in the third patient, a polymorphism of the long arm of chromosome 7 was diagnosed. The latter polymorphism was also found in the patient's mother and grandfather.
5

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gen

88%
Popowska E., Pronicka P. E., Pronicka E., Sulek S. A., Sulek A., Jurkiewicz J. D., Jurkiewicz D., Rowe R. P., Rowe P., Rowinska R. E., Rowinska E., Krajewska-Walasek K.-W. M., Krajewska-Walasek M.
Journal of Applied Genetics
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2000
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vol. 41
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issue 4
293-302
EN
We present twenty-nine PHEX gene mutations extending our previous work, giving it to a total of 37 different mutations identified in Polish patients with familial or sporadic X-linked hypophosphatemia. Deletions, insertions and nucleotide substitutions leading to frameshift (27%), stop codon (29%), splice site (24%), and missense mutations (20%) were found. The mutations are distributed along the gene, exons 3, 4, 11, 12, 14, 15, 17, 20 and 22 are regions with the most frequent mutation events. Four mutations, P534L, G579R, R549X and IVS15+1nt, recurred in three, four, two and three unrelated patients, respectively. They have also been detected in affected persons from other countries. Twenty-eight mutations are specific for Polish population and almost all of them are unique. Most of the identified mutations are expected to result in major changes in protein structure and/or function.
6

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

88%
Popowska E., Sulek A., Kubalska J., Jezewska M., Trembacz H., Goryluk-Kozakiewicz B., Krajewska-Walasek M.
Journal of Applied Genetics
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1998
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vol. 39
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issue 1
103-111
EN
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 (Pro176Ser) and G481?A (Ala161Thr), in patients with a milder form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency were detected. In patients with the Lesch-Nyhan syndrome two transitions, G569?A (Gly190Glu) 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.
7

Novel 12-bp deletion in the coding region of the bovine NPM1 gene affects growth traits

88%
Huang Y.-Z., Zhang E.-P., Chen H., Wang J., Li Z.-J., Huai Y.-T., Ma L., Lan X.-Y., Ren G., Lei C.-Z., Fang X.-T., Wang J.-Q.
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vol. 51
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issue 2
199-202
EN
The nucleophosmin 1 gene (NPM1) encodes a multifunctional nucleolar phosphoprotein that plays a crucial role in the control of various aspects of cell growth and homeostasis. In this study, the coding region of the NPM1 gene was screened in 1035 individuals of 4 Chinese cattle breeds by DNA sequencing and polyacrylamide gel electrophoresis. A novel 12-bp deletion mutation was identified in the coding region of the NPM1 gene. The PCR products of primer NPM1-P2 exhibited 3 genotypes and 2 alleles: 178 bp (denoted as W) and 166 bp (denoted as D). Genotype DD and allele D were predominant in the studied populations. Association analysis with growth traits in the Nanyang breed (N = 265) showed that the animals with genotype DD had significantly greater birth weight, body weight, body length, and heart girth than those with genotype WD (P < 0.01 or P < 0.05) at birth and after 6 months and 12 months, but not at 18 and 24 months of age. Results of this study suggest that the NPM1 gene is a candidate gene for growth traits in cattle.
8

Detecting a deletion in the coding region of the bovine bone morphogenetic protein 15 gene (BMP15)

75%
Zhang L.-P., Gan Q.-F., Zhang X.-H., Li H.-D., Hou G.-Y., Li Y.-J., Gao X., Ren H.-Y., Chen J. B., Xu S.-Z.
Journal of Applied Genetics
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2009
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vol. 50
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issue 2
145-148
EN
The aim of this study was to detect polymorphism in the bovine bone morphogenetic protein 15 (BMP15) gene. On the basis of PCR-SSCP and DNA sequencing, a 4-bp deletion was identified in the coding region of the gene. Sequence analysis revealed that the deletion altered the reading frame and introduced a stop codon at position 264. Eight breeds (Luxi, Qinchuan, Nanyang, Jinnan, Bohai Black, Menggolian, Holstein, and Simmental) were genotyped by PCR-SSCP. No cows homozygous for this mutation were observed in these breeds. Heterozygous cows were detected in Luxi, Qinchuan, Nanyang, Jinnan and Bohai Black cattle. Fecundity was not increased in heterozygous individuals.
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