Temat: gene mutation - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: Homology of DNA sequences encompassing the malignant hyperthermia mutation site in the human, porcine, and zebrine ryrl gene
Autorzy:: Gronek, P
Slomski, R.
Lisiecka, D.
Plawski, A.
Nuc, K.
Banasiewicz, T.
Powiązania:: https://bibliotekanauki.pl/articles/2044249.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: homology
Equus grevyi
Sus scrofa
ryanodine receptor
chromosome
polymorphism
gene
porcine gene
man
mutation
polymerase chain reaction
DNA
malignant hyperthermia
skeletal muscle
Opis:: The RYR1 gene encoding the Ca²⁺ channel of sarcoplasmic reticulum of human skeletal muscle has been cloned and its nucleotide sequence has been determined earlier. We have used the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP), and sequencing analysis for human, porcine (Sus scrofa), and zebrine (Equus grevyi) ryanodine receptor (ryrl) gene. The fragment of exon 17 of the ryr1 gene was characterized by a high homology between all the analysed species (substitution of a nucleotide is underlined): porcine ryr1 ¹⁸³⁴GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁹ human RYR1 ¹⁸³¹GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁶ zebrine ryr1 GTG GCC GTG CGC TCC AAC CAA GAC CT.
Źródło:: Journal of Applied Genetics; 1998, 39, 3; 275-279
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

Artykuł

Skocz do pozycji: 2.

Tytuł:: Identification of mutations of selected genes causing retinal degeneration in the domestic cat (Felis catus) – in silico analysis
Identyfikacja mutacji wybranych genów powodujących zwyrodnienie siatkówki u kota domowego (Felis catus) – analiza in silico
Autorzy:: Kurowska, P.
Gruszczyńska, J.
Grzegrzółka, B.
Powiązania:: https://bibliotekanauki.pl/articles/29433585.pdf
Data publikacji:: 2022
Wydawca:: Zachodniopomorski Uniwersytet Technologiczny w Szczecinie. Wydawnictwo Uczelniane ZUT w Szczecinie
Tematy:: domestic cat
Felis catus
retinal degeneration
gene
mutation
diagnosis
CEP290
CRX
AIPL1
KIF3B
Źródło:: Acta Scientiarum Polonorum. Zootechnica; 2022, 21, 4; 39-46
1644-0714
Pojawia się w:: Acta Scientiarum Polonorum. Zootechnica
Dostawca treści:: Biblioteka Nauki

Artykuł

Skocz do pozycji: 3.

Tytuł:: Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene
Autorzy:: Milewski, M
Bal, J
Bocian, E
Obersztyn, E
Mazurczak, T
Powiązania:: https://bibliotekanauki.pl/articles/2047284.pdf
Data publikacji:: 1996
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: inactivation
human disease
gene
X chromosome
mental retardation
clinical parameter
mental status
full mutation
cytogenetic parameter
molecular parameter
fragile X syndrome
amplification size
Opis:: Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation. Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found. Possible explanations of this result are discussed. With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation. No such difference appeared when affected and normal females with full mutation were compared. The proportion of mutated active X chromosome was significantly higher in mentally retarded females than in those without any mental impairment.
Źródło:: Journal of Applied Genetics; 1996, 37, 2; 205-215
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

Artykuł

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