Wyniki wyszukiwania

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Fluorescence in situ hybridization [FISH] - application in research and diagnostics

100%

Budny B., Kanik M., Latos-Bielenska A.

Folia Histochemica et Cytobiologica

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2002

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tom 40

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nr 2

2

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia

64%

Jamsheer A., Wisniewska M., Szpak A., Bugaj G., Krawczynski M. R., Budny B., Wawrocka A., Latos-Bielenska A.

Journal of Applied Genetics

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2009

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tom 50

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nr 3

297-299

Oculodentodigital dysplasia (ODDD) (OMIM #164200) is a rare congenital, autosomal dominant disorder comprising craniofacial, ocular, dental, and digital anomalies. The syndrome is caused by GJA1 mutations. The clinical phenotype of ODDD involves a characteristic dysmorphic facies, ocular findings (microphthalmia, microcornea, glaucoma), syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis. In a Polish child with the clinical symptoms typical of ODDD, we demonstrated a novel missense mutation C.C31A resulting in p.L11F substitution. Our report provides evidence on the importance of this highly conserved amino acid residue for the proper functioning of GJA1 protein.

3

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Obesity as a tumour development triggering factor

64%

Budny A., Grochowski C., Kozlowski P., Kolak A., Kaminska M., Budny B., Abramiuk M., Burdan F.

Annals of Agricultural and Environmental Medicine

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2019

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tom 26

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nr 1

4

Alternative 3’ acceptor site in the exon 2 of human PAX8 gene resulting in the expression of unknown mRNA variant found in thyroid hemiagenesis and some types of cancers

64%

Szczepanek-Parulska E., Szaflarski W., Piatek K., Budny B., Jaszczynska-Nowinka K., Biczysko M., Wierzbicki T., Skrobisz J., Zabel M., Ruchala M.

Acta Biochimica Polonica

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2013

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tom 60

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nr 4

PAX8 gene encodes one of the transcription factors engaged in the regulation of proper development of thyroid gland as well as Müllerian and renal/upper urinary tracts. So far, six alternatively spliced transcripts were reported, however, sequences of only four were deposited in the NCBI database. Here, we evaluate a fragment of a novel variant of PAX8 mRNA formed by an alternative 3' acceptor site located in the second exon. The molecular outcome encompasses extension of the 5' untranslated region of exon two by 97 nucleotides as is evident from mRNA. This new insert may impair binding of mRNA to the ribosome and in consequence significantly decrease expression of the PAX8 protein. Here, we show for the first time that the novel insert in exon two might be associated with congenital thyroid hemiagenesis and influence development of different types of cancer.

5

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency

64%

Ziemnicka K., Budny B., Drobnik K., Baszko-Blaszyk D., Stajgis M., Katulska K., Wasko R., Wrotkowska E., Slomski R., Ruchala M.

Journal of Applied Genetics

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2016

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tom 57

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nr 3

6

Pituitary microsomal autoantibodies in patients with childhood-onset combined pituitary hormone deficiency: an antigen identification attempt

52%

Ziemnicka K., Gut P., Golab M., Dworacki G., Wrotkowska E., Stajgis M., Katulska K., Rabska-Pietrzak B., Obara-Moszynska M., Niedziela M., Budny B., Kaluzna M., Wasko R., Ruchala M.

Archivum Immunologiae et Therapiae Experimentalis

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2016

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tom 64

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nr 6

7

The role of serum C-reactive protein measured by high-sensitive method in thyroid disease

52%

Czarnywojtek A., Owecki M., Zgorzalewicz-Stachowiak M., Wolinski K., Szczepanek-Parulska E., Budny B., Florek E., Waligorska-Stachura J., Miechowicz I., Baczyk M., Sawicka N., Dhir S., Ruchala M.