Sample records for MUTATIONEN (mutations)
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6

The Kallikrein-Related Peptidases hK2 and PSA with Emphasis on Genetic Variation, Secretion, and Sperm Motility

Sävblom, Charlotta

Prostate-specific antigen (PSA) and human glandular kallikrein 2 (hK2) are secreted by the prostate into seminal plasma and through leakage into blood. This leakage increases rapidly in prostate disease, and PSA is used worldwide as a marker of prostate cancer. PSA is activated in vitro by hK2, and ...

DRIVER (German)

10

TRANSTHYRETIN GENE-MUTATIONS IN BRITISH AND FRENCH PATIENTS WITH AMYLOID NEUROPATHY

BHATIA, K; REILLY, M; ADAMS, D; DAVIS, MB; HAWKES, CH; THOMAS, PK; SAID, G; HARDING, AE

Five patients, two British and three French, with late onset amyloid neuropathy were found to have mutations of the transthyretin (TTR) gene associated with the Portuguese and German types of familial amyloid polyneuropathy. Familial amyloid polyneuropathy is rare in the United Kingdom and has not p...

DRIVER (German)

13

Sauver la solidarite

Racine, J.; Conseil Pontifical de la Culture
2000-01-01

German National Library of Science and Technology (GetInfo) (German)

16

Rice breeding with induced mutations II : report of an FAO/IAEA Research Co-Ordination Meeting on the Use of Induced Mutations in Rice Breeding, held in Oiso, Japan, 12 - 14 August, 1968

Research Co-ordination Meeting on the Use of Induced Mutations in Rice Breeding < 1968, Oiso>; Food and Agriculture Organization; International Atomic Energy Agency
1970-01-01

German National Library of Science and Technology (GetInfo) (German)

17

Rice breeding with induced mutations II : report of an FAO/IAEA Research Co-Ordination Meeting on the Use of Induced Mutations in Rice Breeding, held in Oiso, Japan, 12 - 14 August, 1968

Research Co-ordination Meeting on the Use of Induced Mutations in Rice Breeding < 1968, Oiso>; Food and Agriculture Organization; International Atomic Energy Agency
1970-01-01

German National Library of Science and Technology (GetInfo) (German)

22

Problematique

Harvey, F.; Conseil Pontifical de la Culture
2000-01-01

German National Library of Science and Technology (GetInfo) (German)

26

Parental origin of factor IX gene mutations, and their distribution in the gene.

Olek, K; Ludwig, M; Brackmann, H H; Grimm, T

Genomic amplification followed by direct sequencing enabled us to establish the causative mutation in 67 unrelated hemophilia B patients of predominantly German origin. With the detection of the mutation, extensive pedigree analysis has become feasible. We therefore anticipated that determination of...

DRIVER (German)

29

NPHS2 mutations

Al-Morsy, Zakaria; Hammad, Ayman; Ragab, Mohamed
2008-01-01

German National Library of Science and Technology (GetInfo) (German)

31

Mutations within the Autographa californica Nucleopolyhedrovirus FP25K Gene Decrease the Accumulation of ODV-E66 and Alter Its Intranuclear Transport

Harrison, Robert L.; Braunagel, Sharon C.; Rosas-Acosta, German; Burks, Jared K.; Ma, H.; Summers, M. D.

Previous reports indicate that mutations within the Autographa californica nucleopolyhedrosis virus FP25K gene (open reading frame 61) significantly reduce incorporation of enveloped nucleocapsids into viral occlusions. We report that FP25K is a nucleocapsid protein of both the budded virus (BV) and...

DRIVER (German)

34

Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia

Nürnberg, G.; Reis, A.; Nürnberg, P.; Frank, J.; Ekici, A. B.; Poblete-Gutiérrez, P.; Thiel, C. T.; Bergmann, C.

Anonychia is an autosomal recessive disorder characterized by the congenital absence of finger- and toenails. In a large German nonconsanguineous family with four affected and five unaffected siblings with isolated total congenital anonychia, we performed genomewide mapping and showed linkage to 20p...

DRIVER (German)

42

Molekulare Analyse von Tumorsuppressorgen-Kandidaten auf Chromosom 10 in Tumoren des Nervensystems

Köhler, Benjamin

Deletionen des Chromosoms 10 stellen eine häufige Veränderung in unterschiedlichen Tumoren des Nervensystems dar. Sie finden sich u.a. in der Mehrzahl der Glioblastome, aber auch in Subgruppen von atypischen und anaplastischen Meningeomen sowie Medulloblastomen. Der häufige Verlust von genetischem M...

DRIVER (German)

46

Low frequency of pathogenic mutations in the ubiquitin carboxyterminal hydrolase gene in familial Parkinson's disease

Lincoln, S; Vaughan, J; Wood, N; Baker, M; Adamson, J; Gwinn-Hardy, K; Lynch, T; Hardy, J; Farrer, M

A coding substitution (I93M) in the ubiquitin carboxyterminal L1 (UCH-L1) gene has recently been identified in a German family with Parkinson's disease. We have sequenced the entire coding region of the gene in 11 families who have a pattern of disease consistent with autosomal dominant inheritance....

DRIVER (German)

54

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

Dork, T; Neumann, T; Wulbrand, U; Wulf, B; Kalin, N; Maaß, G; Krawczak, M; Guillermit, H; Ferec, C; Horn, G; Klinger, K; Kerem, B

In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German non-CF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms ups...

DRIVER (German)

59

Induced mutations for disease resistance in crop plants : proceedings of a Research Co-Ordination Meeting on Induced Mutations for Disease Resistance in Crop Plants ; and held in Novi Sad, 4 - 8 June 1973

Joint FAO IAEA Division of Atomic Energy in Food and Agriculture; Research Co-Ordination Meeting on Induced Mutations for Disease Resistance in Crop Plants < 1973, Novi Sad>
1974-01-01

German National Library of Science and Technology (GetInfo) (German)

61

Induced mutations and marker assisted breeding approaches to crop improvement

Awan, M. A.; International Atomic Energy Agency; Food and Agriculture Organization
1995-01-01

German National Library of Science and Technology (GetInfo) (German)

63

Improving soybean seed quality

Kinney, A. J.; International Atomic Energy Agency; Food and Agriculture Organization
1995-01-01

German National Library of Science and Technology (GetInfo) (German)

64

Improvement of grain legume production using induced mutations : Proceedings of the final Research Co-ordination Meeting for four FAO/IAEA Co-ordinated Research Programmes

Joint FAO-IAEA Division of Isotope and Radiation Applications of Atomic Energy for Food and Agricultural Development; Workshop on the Improvement of Grain Legume Production Using Induced Mutations < 1986, Pullman, Wash.>
1988-01-01

German National Library of Science and Technology (GetInfo) (German)

68

Identification of plum cultivars using RAPDs

Goedhart, M. A.; Mansvelt, E. L.; International Atomic Energy Agency
1995-01-01

German National Library of Science and Technology (GetInfo) (German)

83

Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome.

German, J; Langlois, R G; Jensen, R H; Bigbee, W L

The glycophorin A assay was used to estimate the frequency of mutations that accumulate in vivo in somatic cells of persons with Bloom's syndrome (BS). This assay measures the frequency in persons of blood type MN of variant erythrocytes that lack the expression of one allelic form of glycophorin A,...

DRIVER (German)

84

Elements de problematique

Comite Du Programme; Conseil Pontifical de la Culture
2000-01-01

German National Library of Science and Technology (GetInfo) (German)

87

Different mutations are responsible for the elevated sister-chromatid exchange frequencies characteristic of Bloom's syndrome and hamster EM9 cells.

Ray, J H; German, J; Louie, E

Experimental hybridization of cultured cells was employed to determine whether the strikingly elevated rates of sister-chromatid exchange (SCE) exhibited by Bloom's syndrome (BS) and hamster cell line EM9 have the same or different bases. Seventeen cell lines were developed from polyethylene glycol-...

DRIVER (German)

99

Breeding of value added barley by mutation and protein engineering

Von Wettstein, D.; International Atomic Energy Agency; Food and Agriculture Organization
1995-01-01

German National Library of Science and Technology (GetInfo) (German)

101

Biotechnology approaches to rice improvement

Khush, G. S.; International Atomic Energy Agency; Food and Agriculture Organization
1995-01-01

German National Library of Science and Technology (GetInfo) (German)

102

Arylamine N-acetyltransferase (NAT2) mutations and their allelic linkage in unrelated Caucasian individuals: correlation with phenotypic activity.

Maurer, A; Cascorbi, I; Brockmöller, J; Drakoulis, N; Sperling, K; Roots, I

The polymorphic arylamine N-acetyltransferase (NAT2; EC 2.3.1.5) is supposed to be a susceptibility factor for several drug side effects and certain malignancies. A group of 844 unrelated German subjects was genotyped for their acetylation type, and 563 of them were also phenotyped. Seven mutations ...

DRIVER (German)

103

Apomixis and F~1 hybrids

Hanna, W. W.; International Atomic Energy Agency; Food and Agriculture Organization
1995-01-01

German National Library of Science and Technology (GetInfo) (German)