Výsledky vyhledávání - "Rodica Sandulache"

Relationship of Pax6 Activity Levels to the Extent of Eye Development in the Mouse, Mus musculus

Autor: Walter Pretsch, Angelika Neuhäuser-Klaus, Rodica Sandulache, Irmgard Zaus, Jack Favor, Christian Johannes Gloeckner, Simon Saule

Publikováno v: Genetics 179, 1345-1355 (2008)

In this study we extend the mouse Pax6 mutant allelic series to include a homozygous and hemizygous viable hypomorph allele. The Pax6132-14Neu allele is a Phe272Ile missense mutation within the third helix of the homeodomain. The mutant Pax6 homeodom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5844a53f06b95940d01f3ed2f3e1e812
https://doi.org/10.1534/genetics.108.088591

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Molecular Characterization of Pax62Neu Through Pax610Neu: An Extension of the Pax6 Allelic Series and the Identification of Two Possible Hypomorph Alleles in the Mouse Mus musculus

Autor: Angelika Neuhäuser-Klaus, Jack Favor, Bimal Chatterjee, Thomas Hermann, Wolfgang W. Schmahl, Heiko Peters, Rodica Sandulache

Publikováno v: Genetics. 159:1689-1700

Phenotype-based mutagenesis experiments will increase the mouse mutant resource, generating mutations at previously unmarked loci as well as extending the allelic series at known loci. Mapping, molecular characterization, and phenotypic analysis of n

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https://doi.org/10.1093/genetics/159.4.1689

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Aphakia (ak), a mouse mutation affecting early eye development: Fine mapping, consideration of candidate genes and alteredPax6 andSix3 gene expression pattern

Autor: Thomas Immervoll, Jochen Graw, Christina Grimm, Jack Favor, N Klopp, Bimal Chatterjee, Rodica Sandulache, Jana Löster

Publikováno v: Developmental Genetics. 23:299-316

The homozygous mouse mutant aphakia (ak) has been characterized by bilaterally aphakic eyes without a pupil [Varnum DS, Stevens, LC (1968): J Hered 59:147-150]. The mutation was mapped to chromosome 19 [Varnum DS, Stevens, LC (1975): Mouse News Lett

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https://doi.org/10.1002/(sici)1520-6408(1998)23:4<299::aid-dvg5>3.0.co

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Molecular analysis of four lactate dehydrogenase-A mutants in the mouse

Autor: Rodica Sandulache, Bimal Chatterjee, W. Gimbel, Jack Favor, Jochen Graw, Walter Pretsch

Publikováno v: Mammalian Genome. 5:777-780

Four electrophoretic and/or enzyme-activity variants of murine LDH-A subunit (Ldhla-m1Neu, Ldhla-m5Neu, Ldhla-m6Neu, Ldhla-m9Neu), induced by procarbazine hydrochloride or ethylnitrosourea (ENU), were analyzed at the DNA level. The exons of the Ldhl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104582df1085b1284d7474f114f2448e
https://doi.org/10.1007/bf00292012

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Genetic instability at the agouti locus of the mouse (Mus musculus). I. Increased reverse mutation frequency to the Aw allele in A/a heterozygotes

Autor: Jack Favor, Angelika Neuhäuser-Klaus, Rodica Sandulache

Publikováno v: Genetics. 137:1079-1087

We have compiled the reverse mutation rate data to the white bellied agouti (Aw) allele in heterozygous A/a mice and shown it to be increased by a factor of at least 350 in comparison to the reverse mutation rate in homozygous a/a mice. Employing tig

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https://doi.org/10.1093/genetics/137.4.1079

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Molecular, genetic and biochemical characterization of lactate dehydrogenase-A enzyme activity mutations in Mus musculus

Autor: Bimal Chatterjee, Walter Pretsch, Siegbert Merkle, Rodica Sandulache, Jack Favor

Publikováno v: Mammalian genome : official journal of the International Mammalian Genome Society. 9(2)

Four independent heterozygous lactate dehydrogenase (LDH) mutations with approximately 60% of wild-type enzyme activity in whole blood have been recovered. The mutant line Ldh1 a2Neu proved to be homozygous lethal, whereas for the three lines Ldh1 a7

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https://pubmed.ncbi.nlm.nih.gov/9457676

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The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

Autor: Jack Favor, Veronique Blanquet, Patricia A. Grimes, Klaus Schughart, Ralf Spörle, Wolfgang Wurst, Walter Pretsch, Angelika Neuhäuser-Klaus, Rodica Sandulache, Bimal Chatterjee, Elfriede Senft

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 93(24)

We describe a new mouse frameshift mutation ( Pax2 1Neu ) with a 1-bp insertion in the Pax2 gene. This mutation is identical to a previously described mutation in a human family with renal-coloboma syndrome [Sanyanusin, P., McNoe, L. A., Sullivan, M.

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https://pubmed.ncbi.nlm.nih.gov/8943028

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Novel Allele ofCrybb2in the Mouse and Its Expression in the Brain

Autor: Johannes Beckers, Marion Horsch, Jack Favor, Oliver Puk, Koustav Ganguly, Sandra Schädler, Jochen Graw, Daniela M. Vogt Weisenhorn, Angelika Neuhäuser-Klaus, Rodica Sandulache, Wolfgang Wurst

Publikováno v: Investigative Opthalmology & Visual Science. 49:1533

PURPOSE. O377 was identified as a new dominant cataract mutation in mice after radiation experiments. The purpose of this study was to genetically characterize the mutation and to analyze its biological consequences. METHODS. Linkage analysis of the

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https://doi.org/10.1167/iovs.07-0788

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The cell wall receptor for bacteriophage Mu G(â) inErwiniaandEscherichia coliC

Autor: Rodica Sandulache, Peter Prehm, Dominique Expert, Ariane Toussaint, Dietmar Kamp

Publikováno v: FEMS Microbiology Letters. 28:307-310

Adsorption of bacteriophage Mu with its invertible DNA segment in the G(−) orientation requires a terminal glucose residue for binding to the core lipopolysaccharide (LPS) of Gram-negative bacteria. Analysis of a Mu-resistant mutant shows that the

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https://doi.org/10.1111/j.1574-6968.1985.tb00811.x

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