Temat: gene mutation - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome
Autorzy:: Piekutowska-Abramczuk, D
Popowska, E.
Pronicka, E.
Karczmarewicz, E.
Pronicki, M.
Kmiec, T.
Krajewska-Walasek, M.
Powiązania:: https://bibliotekanauki.pl/articles/2041946.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: Leigh disease
polymorphism
deletion
patient
substitution
Polska
SURF1 gene
gene mutation
Leigh syndrome
cytochrome oxidase
Źródło:: Journal of Applied Genetics; 2001, 42, 1; 103-108
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: Somaclonal variation in winter wheat [Triticum aestivum L.]: frequency, occurrence and inheritance
Autorzy:: Cheng, X Y
Gao, M.W.
Liang, Z.Q.
Liu, G.Z.
Powiązania:: https://bibliotekanauki.pl/articles/2044461.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: inheritance
tissue culture
Triticum aestivum
occurrence
in vitro
winter wheat
gene mutation
plant breeding
callus induction
frequency
somaclonal variation
wheat
embryo
Opis:: Plants were regenerated from immature embryo cultures of 35 winter wheat genotypes. General responses of regenerated plants were investigated and a total of 7142 R₂ spike lines from 1593 R₁ plants were assessed in the field for somaclonal variants in 1985/86, 1986/87 and 1987/88. Selected variants were studied for their possible genetic inheritance. From regenerated plantlets, 81% survived and 63% produced fertile plants. Forms with reduced plant height, length of spike and other morphological abnormalities were found in this progeny. Populations of R₁ plants were highly variable due mainly to the physiological disturbances resulting from the in vitro process. Overall somaclonal variation frequencies were 14.2% per plant basis and 5.3% per R₂ spike basis. The variants were similar in the three different R₂ generations with predominant variants being negative in plant height, maturity, awns, spike type and plant type. Both uniform R₂ variant families and spike lines were found in addition to the segregating variants which constituted the majority. On average, in a variant family or line, 18% and 14% of their component lines and plants were variants, respectively. Inheritability was demonstrated for the uniform variant families and spike lines as well as segregated variants. Of those 134 selections, about 70% were classified as inheritable. Both recessive and dominant gene mutations at one, two or three loci were evident in some variants as suggested by the segregating data.
Źródło:: Journal of Applied Genetics; 1998, 39, 1; 59-72
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: Ornithine transcarbamylase gene mutations and genotype-phenotype correlation in Polish patients with hyperammonemia type 2
Autorzy:: Popowska, E
Ciara, E.
Rokicki, D.
Pronicka, E.
Powiązania:: https://bibliotekanauki.pl/articles/2043869.pdf
Data publikacji:: 1999
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: metabolic disease
genotype-phenotype correlation
polymorphism
patient
Polska
ornithine transcarbamylase
urea cycle
child
hyperammonemia type 2
mitochondrial enzyme
gene mutation
Źródło:: Journal of Applied Genetics; 1999, 40, 1; 43-52
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 4.

Tytuł:: Potential genotoxicity of Fusarium mycotoxins in Vicia and Pisum cytogenetic tests
Autorzy:: Packa, D
Powiązania:: https://bibliotekanauki.pl/articles/2048288.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: mycotoxin
cytogenetic analysis
plant cell
mitosis
cytotoxicity
gene mutation
Fusarium
chromosome
genotoxicity
fusarial toxin
mitotic cell
cytogenetic test
Vicia faba var.minor
morphological analysis
mutagenic behaviour
Pisum sativum
Opis:: Several fusarial toxins (DAS, DON, FUS-X and MON) were assayed for their genotoxic activity with Vicia faba var. minor and Pisum sativum used as eukaryotic, whole-organism, test systems. Four concentrations: 1, 5, 10 and 20 µg mL⁻¹ were applied for 24 hours, and three fixing times: 24, 48 and 72 hours after the beginning of the treatment. Nuclei and chromosomes in mitotic cells were stained by the Feulgen method. Generally, fusarial toxins in plant cells produced three types of effects: prevented proliferating cells from entering mitosis, caused mitotic alterations and were cytotoxic. Mitotic alterations included C-mitoses, a higher incidence of metaphases/anaphases, excessive condensation of chromosomes, multipolar spindles, disturbed anatelophases and micronuclei. Both type and range of each effect were related to plant species, toxin concentration and duration of the recovery period. The results obtained from our plant bioassays were compared with those reported from other assay systems.
Źródło:: Journal of Applied Genetics; 1998, 39, 2; 171-192
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 5.

Tytuł:: Intermedium mutants in barley [Hordeum vulgare L.] - diversity, interactions and plant breeding value
Autorzy:: Lundqvist, U
Lundqvist, A.
Powiązania:: https://bibliotekanauki.pl/articles/2044458.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: mutant combination
gene interaction
diversity
barley
mutation
Hordeum vulgare
intermedium gene
plant breeding
Opis:: Mutation research has given an insight into the rather complex genetics of kernel rows in barley. At least 12 gene loci can act to promote the spike development, fertility, and kernel development. Mutants with such effects as sixrow and intermedium phenotypes show clear morphological distinctions among different loci, but also among different allelic mutants. These genes, without exception, are capable of unexpected synergistic reinforcing or disturbing intraction, the extremes being typically six-rowed or deformed spikes, respectively. The investigations have centered on 69 intermedium mutants, representing 9 loci, in double mutant combinations, in double combinations with the six-row gene hex-v, in triple combinations with hex-v, and in triple and quadruple mutant combinations. The effects of the interaction may differ among the three characters of lateral floret development, among intermedium loci, and among alleles of the particular locus. Particular types of gene interaction are indicated, particular loci being more competent than others, and the particular alleles being more competent in relation to the constellation of loci. Accumulation of intermedium genes in more complex gene systems leads to progressive promotion of lateral floret development, but there are indications that such systems may be more sensitive to environmental stress, leading to irregular or even deformed spike formation. Probably, representatives of the hex-v locus should form the fundamental constituent in the synthesis of gene systems with the most efficient promotion of lateral floret development in the breeding of six-row barley.
Źródło:: Journal of Applied Genetics; 1998, 39, 1; 85-96
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 6.

Tytuł:: SSCP polymorphism within 5 region of bovine lactoglobulin [LGB] gene
Autorzy:: Kaminski, S
Zabolewicz, T.
Powiązania:: https://bibliotekanauki.pl/articles/2044462.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: lactoglobulin gene
polymorphism
SSCP method
cattle
gene transcription
electrophoresis
hormonal receptor
mutation
beta-lactoglobulin
milk
Opis:: In the paper the detection of the SSCP polymorphism within the 5’ fragment of bovine beta-lactoglobulin (LGB) gene is described. The 5’ fragment of LGB gene (209 bp) was PCR-amplified and then subjected to electrophoresis allowing the detection of SSCP polymorphism. Among 124 animals (50 cows and 74 bulls) six SSCP patterns were identified and named Rl, R2, R3, R4, R5 and R6, which occured with the frequency of 0.32, 0.51, 0.09, 0.06, 0.01 and 0.01, respectively. The PCR-SSCP method is simple, fast, and relatively inexpensive. The SSCP polymorphism reported in the paper may be useful in looking for the associations between different SSCP patterns and LGB gene expression and milk properties.
Źródło:: Journal of Applied Genetics; 1998, 39, 1; 97-102
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 7.

Tytuł:: The first Rb-1 gene promoter germ-line de novo mutation in patient with retinoblastoma
Autorzy:: Zajaczek, S
Jakubowska, A.
Kurzawski, G.
Krzystolik, Z.
Lubinski, J.
Powiązania:: https://bibliotekanauki.pl/articles/2043638.pdf
Data publikacji:: 1999
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: retinoblastoma
genetics
patient
Rb-1 gene
de novo mutation
Źródło:: Journal of Applied Genetics; 1999, 40, 3; 241-247
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 8.

Tytuł:: Mutations in the human rhodopsin gene and polymorphisms in peripherin-RDS gene in Lithuanian autosomal dominant retinitis pigmentosa patients
Autorzy:: Kucinskas, V
Payne, A.M.
Ambrasiene, D.
Jurgelevicius, V.
Steponaviciute, D.
Arciuliene, J.V.
Daktaraviciene, E.
Bhattacharya, S.
Powiązania:: https://bibliotekanauki.pl/articles/2043868.pdf
Data publikacji:: 1999
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: retinal degeneration
polymorphism
patient
rhodopsin gene
man
retinitis pigmentosa
mutation
Lithuania
Źródło:: Journal of Applied Genetics; 1999, 40, 1; 53-61
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 9.

Tytuł:: MELAS as an example of a mitochondrial disease
Autorzy:: Piechota, J
Mroczek, K.
Bartnik, E.
Powiązania:: https://bibliotekanauki.pl/articles/2041823.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: encephalopathia
pathogenesis
mitochondrial DNA
genetics
tRNA gene
mitochondrial disease
mutation
mitochondrial myopathy
Źródło:: Journal of Applied Genetics; 2001, 42, 3; 351-358
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 10.

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

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Skocz do pozycji: 11.

Tytuł:: X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene
Autorzy:: Popowska, E
Pronicka, E.
Sulek., A
Jurkiewicz, D.
Rowe, P.
Rowinska, E.
Krajewska-Walasek, M.
Powiązania:: https://bibliotekanauki.pl/articles/2042182.pdf
Data publikacji:: 2000
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: metabolic disease
hypophosphatemia
deletion
PHEX gene
patient
substitution
X-linked hypophosphatemia
Polska
insertion
mutation
Źródło:: Journal of Applied Genetics; 2000, 41, 4; 293-302
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 12.

Tytuł:: Associations between bovine beta-lactoglobulin polymorphism within coding and regulatory sequences and milk performance traits
Autorzy:: Kaminski, S
Zabolewicz, T.
Powiązania:: https://bibliotekanauki.pl/articles/2043147.pdf
Data publikacji:: 2000
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: chromosome
polymorphism
promoter
haplotype
beta-lactoglobulin gene
mutation
cattle breeding
amino acid
milk
dairy cattle
protein content
Źródło:: Journal of Applied Genetics; 2000, 41, 2; 91-99
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 13.

Tytuł:: Collagens, the basic proteins of the human body
Autorzy:: Czarny-Ratajczak, M
Latos-Bielenska, A.
Powiązania:: https://bibliotekanauki.pl/articles/2042040.pdf
Data publikacji:: 2000
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: human disease
human body
collagen gene
fibrillar collagen
classification
structure
non-fibrillar collagen
protein
mutation
collagen
Źródło:: Journal of Applied Genetics; 2000, 41, 4; 317-330
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 14.

Tytuł:: Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations
Autorzy:: Sikorska, A
Traczyk, Z.
Konopka, L.
Fiszer-Maliszewska, L.
Wojciechowska, B.
Pienkowska-Grela, B.
Rygier, J.
Woroniecka, R.
Witkowska, A.
Rusin, M.
Powiązania:: https://bibliotekanauki.pl/articles/2041808.pdf
Data publikacji:: 2001
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: germline mutation
Li-Fraumeni syndrome
brain tumour
carcinoma
child
chromosome aberration
cancer
p53 gene
young adult
Źródło:: Journal of Applied Genetics; 2001, 42, 3; 379-384
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 15.

Tytuł:: Linkages in Pisum L. VII. Locus for the sterile gene calf [cabbage leaf]
Autorzy:: Swiecicki, W K
Wolko, B.
Kruszka, K.
Powiązania:: https://bibliotekanauki.pl/articles/2048286.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: Pisum
monohybrid segregation
gene expression
linkage
chromosome map
mutation
leaf
cabbage leaf
genetic analysis
dihybrid segregation
F2 population
Opis:: Genetical analyses were conducted to find linkages and the locus of the gene calf on the Pisum chromosome map. The recessive, pleiotropic gene calf (enlarged and undulated leaflets, stipules, flowers and pods, plant sterile), artificially induced (the initial line-Large Podded G-20, the mutagene-DES and NMU) was described by Sharma in 1975. An identical mutant gene at the same locus was isolated in our research (the initial line - cv. Pegro, the mutagene - fast neutrons). Two lines were included in the Pisum gene bank - the type line for the gene calf - Wt 15873 and the representative line - Wt 16024. In linkage studies the representative line was crossed with tester lines bearing gene markers. Analyses of dihybrid segregation in F₂ generations revealed linkages of the gene calf with chromosome 2 markers. Two isozymic markers helped to reveal the calf locus on chromosome 2 with the following gene order: Orp - Calf - K - Pgm-p - Fum. This is in agreement with the current Pisum linkage map.
Źródło:: Journal of Applied Genetics; 1998, 39, 2; 163-169
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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