Wyniki wyszukiwania

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Mutations of genes encoding components of two signal transduction pathway

100%

Wisniewski S., Marszalek B., Kobielak K., Trzeciak W.

Acta Biochimica Polonica

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2003

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tom 50

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nr Supplement 1

2

A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia

100%

Kobielak A., Kobielak K., Biedziak B., Trzeciak W. H.

Acta Biochimica Polonica

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2003

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tom 50

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nr 1

The structure of the EDA1 gene was investigated in a patient with anhidrotic ectodermal dysplasia. Sequence analysis revealed a novel A1270G transition in exon 9 of the EDA1 gene in the patient and his uncle, whereas the patient's mother and grandmother were heterozygotes. This mutation resulted in Tyr343Cys substitution in the extracellular domain of the EDA1 gene product — ectodysplasin-A. The additional Cys343 was located between Cys332 and Cys346 and formed with Cys352 a cluster of four closely situated residues that could potentially form disulfide bonds. This mutation might affect the tertiary structure of the receptor-binding domain of ectodysplasin-A and precipitate the clinical symptoms of anhidrotic ectodermal dysplasia.

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Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

100%

Kobielak K., Kobielak A., Limon J., Trzeciak W. H.

Acta Biochimica Polonica

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1998

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tom 45

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nr 1

We have investigated a fragment of the regulatory region of the EDA gene in a patient with clinical symptoms of anhidrotic ectodermal dysplasia (EDA), whose DNA sequence of exon 1 was normal. The single-strand conformation polymorphism (SSCP) analysis of PCR-amplified fragments of the regulatory region of the EDA gene suggested a mutation localized within the fragment extending from nucleotide -571 to -182 upstream of the 5' end of the cDNA. Sequence analysis of this fragment documented an additional adenine in position -452, located 32 nucleotides upstream from the response element HK-1, a target for transcription factor LEF-1, involved in the differentiation of tissues of ectodermal and mesodermal origin. We postulate that this mutation might interfere with the transcription process of the EDA gene and might be responsible, at least in part, for the clinical symptoms of anhidrotic ectodermal dysplasia.

4

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Is the recently discovered EDA gene associated with anhidrotic ectodermal dysplasia?

100%

Kobielak K., Kobielak A., Trzeciak W. H.

Journal of Applied Genetics

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1997

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tom 38

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nr 3

The evidence from literature strongly suggests that Christ-Siemens-Touraine (CST) syndrome is associated with mutations of the newly discovered EDA gene. The gene is situated on the long arm of the X chromosome (Xq12.2-q13.1) and contains two exons separated by a 200 kbp intron. The 5’-untranslated region and most of the coding sequence are localized in exon 1, while three C-terminal amino acids are encoded by exon 2. The coding sequence was interrupted by translocations in three affected females: t(X;l), t(X;12), t(X;9), and submicroscopic deletions of the EDA gene were found in five males with CST syndrome, and point mutations were discovered in exon 1 in nine other patients. Northern blot analysis and in situ hybridization studies revealed that the EDA gene was expressed in the foetus, and postnatally in a specific type of skin cell and that the expression was limited to cells of ectodermal origin. A predicted protein product of the EDA gene contains 135 to 140 amino acids, organized in three distinct domains and may belong to class II transmembrane receptors.

5

Cloning of the lymphoid enhancer binding factor-1 [Lef-1] cDNA from rat kidney: Homology to the mouse sequence

100%

Kobielak K., Kobielak A., Trzeciak W. H.

Acta Biochimica Polonica

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1999

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tom 46

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nr 4

We have cloned and sequenced rat cDNA that encodes the Lef-1 protein. The cDNA, containing 1194 nt exhibits 94% similarity to the mouse Lef-1 cDNA. The deduced amino-acids sequence of rat Lef-1 protein, consisting of 397 amino acids, exhibited 98% homology with the known sequence of mouse Lef-1 protein.

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Novel isoforms of transcript of the EDA gene confirm X-linked inheritance of anhidrotic ectodermal dysplasia

100%

Kobielak K., Kobielak A., Trzeciak W. H.

Journal of Applied Genetics

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1999

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tom 40

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nr 4

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A novel isoform of human lymphoid enhancer-binding factor-1 [LEF-1] gene transcript encodes a protein devoid of HMG domain and nuclear localization signal

100%

Kobielak A., Kobielak K., Trzeciak W. H.

Acta Biochimica Polonica

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2001

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tom 48

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nr 1

Lymphoid enhancer-binding factor-1 (LEF-1), a member of the high mobility group (HMG) family of proteins, regulates expression of T-cell receptor-a gene and is one of the key regulatory molecules in the epithelial-mesenchymal interactions during embryonic development. Among others, LEF-1 regulates expression of cytokeratin genes involved in formation of hair follicles and the gene encoding the cell-adhesion molecule E-cadherin. Transcription factor LEF-1, which acts as a dimer, binds ß-catenin and is involved in signal transduction by the wnt pathway. We have cloned and sequenced a novel isoform of human LEF-1 gene transcript. This isoform encodes a truncated protein devoid of HMG domain and nuclear localization signal but retaining ß-catenin binding domain. This isoform might either act in a dominant-negative manner by interfering with native LEF-1, or might bind ß-catenin in the cytosol, which would result in attenuation of the signals transmitted by theLEF-ß-catenin pathway.

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Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia

88%

Kobielak A., Kobielak K., Wisniewski S. A., Midro A. T., Trzeciak W. H.

Folia Histochemica et Cytobiologica

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2001

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tom 39

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nr 2

9

The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis

76%

Kobielak A., Kobielak K., Wisniewski A. S., Mostowska A., Biedziak B., Trzeciak W. H.

Folia Histochemica et Cytobiologica

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2001

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tom 39

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nr 2

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Regulation of hair follicle Stem Cells homeostasis by activation of gene inhibitory network

52%

Wang X., Boryn L., Daszczuk P., Mazurek P., Pieczonka T., Wang G., Ramos R., Wang X., Plikus M., Yun K., Israel M., Kandyba E., Kobielak K.

Acta Biochimica Polonica

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2018

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tom 65

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nr S2

Ograniczanie wyników

Mutations of genes encoding components of two signal transduction pathway

A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia

Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia

Is the recently discovered EDA gene associated with anhidrotic ectodermal dysplasia?

Cloning of the lymphoid enhancer binding factor-1 [Lef-1] cDNA from rat kidney: Homology to the mouse sequence

Novel isoforms of transcript of the EDA gene confirm X-linked inheritance of anhidrotic ectodermal dysplasia

A novel isoform of human lymphoid enhancer-binding factor-1 [LEF-1] gene transcript encodes a protein devoid of HMG domain and nuclear localization signal

Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia

The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis

Regulation of hair follicle Stem Cells homeostasis by activation of gene inhibitory network