Abstract：
:Niemann-Pick type C1 (NPC) disease is an autosomal recessive neurodegenerative disorder. One feature of the mouse model of NPC1 is it's infertility. We have made transgenic mice which express the Npc1 protein exclusively in fibrillary astrocytes, using the glial fibrillary acidic protein (GFAP) promoter. This selective expression of Npc1 corrects sterility in GFAP-Npc1(-/-), Npc1(-/-) mice. Counts of acidophils in the pituitary of GFAP-Npc1E, Npc1(-/-) mice, as compared Npc1(-/-) mice, and measurements of dopamine D2 receptor (DRD2) mRNA in the pituitary, suggest mechanisms for fertility enhancement. We conclude that the correction of sterility in GFAP-Npc1E, Npc1(-/-) mice is a result of restoring hypothalamic control of the pituitary.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Donohue C,Marion S,Erickson RPdoi
10.1007/BF03195698subject
Has Abstractpub_date
2009-01-01 00:00:00pages
385-90issue
4eissn
1234-1983issn
2190-3883pii
533journal_volume
50pub_type
杂志文章abstract：:The psbA-trnH intergenic region is among the most variable regions in the gymnosperm chloroplast genome. It is proposed as suitable for DNA barcoding studies and is useful in phylogenetics at the species level. This region consists of two parts differing in their evolutionary characteristics: 1) the psbA 3’UTR (...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03208855
更新日期：2010-01-01 00:00:00
abstract：:Wild relatives, landraces and cultivars from different geographical regions have been demonstrated as the sources of genetic variation for resistance to rust diseases. This study involved assessment of diversity for resistance to three rust diseases among a set of Nordic spring wheat cultivars. These cultivars were te...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-016-0345-6
更新日期：2016-11-01 00:00:00
abstract：:Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rea...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195731
更新日期：2010-01-01 00:00:00
abstract：:The number of functional teats is an important selection criterion in pig breeding. Inherited defects of the udder, such as the inverted teat, do have a considerable negative impact on the nursing ability of the sow. To investigate the genetic background of this defect and the number of functional teats in Swedish mat...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-016-0382-1
更新日期：2017-05-01 00:00:00
abstract：:Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome var...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/BF03194674
更新日期：2007-01-01 00:00:00
abstract：:The genetic basis of the regeneration process in cultured immature embryos of rye (Secale cereale L.) was analyzed. The experiments were designed to reveal differences between the in vitro culture responses of two inbred lines: L318 (a high regeneration ability) and L9 (a low potential for regeneration). The rye ortol...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-010-0015-z
更新日期：2011-02-01 00:00:00
abstract：:A rye doubled haploid (DH) mapping population (Amilo × Voima) segregating for pre-harvest sprouting (PHS) was generated through anther culture of F(1) plants. A linkage map was constructed using DHs, to our knowledge, for the first time in rye. The map was composed of 289 loci: amplified fragment length polymorphism (...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-011-0029-1
更新日期：2011-08-01 00:00:00
abstract：:The aim of this study was to evaluate phenotypic variation of R0 androgenic plants obtained from four seed sources and donor plants by anther culture. Several morphological traits (leaf size, petiole length, leaf division, cortex colour) and the range of diversity were evaluated. There was large variation in all trait...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
abstract：:A total of 244 domestic pigeons (Columba livia var. domestica) were genotyped using the PCR-RFLP method. A 999 bp fragment of the MTCYB gene was amplified. The amplification products were digested with restriction enzymes. PCR-RFLP for MvaI restriction enzyme was observed. Frequencies of alleles were as follows: MTCYB...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2005-01-01 00:00:00
abstract：:Hereditary hearing loss (HHL) is a neurosensory disorder that affects every 1/500 newborns worldwide and nearly 1/3 people over the age of 65. Congenital deafness is inherited as monogenetic or polygenic disorder. The delicacy, tissue heterogeneity, deep location of the inner ear down the brainstem, and minute quantit...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-019-00535-6
更新日期：2020-02-01 00:00:00
abstract：:The aim of this study was to assess the frequencies of three hemochromatosis gene (HFE) mutations in ethnic Roma/Gypsies in Slovakia. A cohort of 367 individuals representing general population and not preselected for health status was genotyped by TaqMan real-time PCR assay for C282Y, H63D and S65C mutations in HFE g...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-012-0088-y
更新日期：2012-05-01 00:00:00
abstract：:Selective DNA pooling is an advanced methodology for linkage mapping of quantitative trait loci (QTL) in farm animals. The principle is based on densitometric estimates of marker allele frequency in pooled DNA samples of phenotypically extreme individuals from half-sib, backcross and F(2) experimental designs in farm ...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：
更新日期：2002-01-01 00:00:00
abstract：:The distinctness, uniformity and stability (DUS) requirements involve expensive, space- and time-consuming measurements of morphological traits. Moreover, for a majority of traits, interactions between genotype and environment complicate the evaluation. Molecular markers have a potential to facilitate this procedure, ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195609
更新日期：2008-01-01 00:00:00
abstract：:Spring wheat nursery accessions, including 18 spring wheat lines derived in CIMMYT, Mexico, and 12 spring wheat cultivars bred in Poland, along with cultivars Frontana and Sumai 3 as resistant controls, were examined for resistance to leaf rust under field conditions. Multipathotype tests with 16 different pathogen is...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
abstract：:Arylamine N-acetyltransferase (NAT) genes were targeted for inhibition using short hairpin RNA (shRNA) using two different RNA polymerase III promoters. Constructs were developed for NAT1 and NAT2, the endogenous mouse genes, and for human NAT1. There were fetal and neonatal deaths with these constructs, perhaps due i...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2005-01-01 00:00:00
abstract：:Winter wheat cultivars Aquileja (AQ) and Xian Nong 4(XN) were previously reported to possess durable, quantitative resistance to stripe rust disease. In the present study, AQ, XN and a susceptible wheat cultivar were reciprocally crossed in all 6 combinations. Parents, F1, F2, F3, BCP1 and BCP2 were used to determine ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03194656
更新日期：2007-01-01 00:00:00
abstract：:The aim of these studies was to characterize nucleotide substitutions leading to the phenotype of brassinosteroid-insensitive, semi-dwarf barley mutant 093AR. Two substitutions in the sequence of barley HvBRI1 gene, encoding leucine-rich repeats receptor kinase (LRR-RK), which participates in brassinosteroid (BR) sign...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-011-0031-7
更新日期：2011-08-01 00:00:00
abstract：:Observations of a specific rDNA locus behaviour during the cell cycle were made by fluorescent in situ hybridisation (FISH) in 12 Lupinus species. Due to the pattern of chromatin de-condensation in that locus, the number of relevant sites in interphase nuclei was twice as high as the number of signals on metaphase chr...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2004-01-01 00:00:00
abstract：:A simplified AFLP method, based on methylation-sensitive Alw44I restriction endonuclease, has been developed and evaluated for fingerprinting 15 wheat cultivars. The selected germplasms represented groups of spring and winter wheats with and without the 1BL.1RS translocation. Ten selective primers yielded 57 markers, ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2004-01-01 00:00:00
abstract：:Nearly all bacterial species, including pathogens, have the ability to form biofilms. Biofilms are defined as structured ecosystems in which microbes are attached to surfaces and embedded in a matrix composed of polysaccharides, eDNA, and proteins, and their development is a multistep process. Bacterial biofilms const...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-015-0309-2
更新日期：2016-05-01 00:00:00
abstract：:SDS-PAGE analysis of seed globulins covered 200 accessions of the following Lens taxa: L. culinaris subsp. culinaris, L. culinaris subsp. orientalis, L. odemensis, L. ervoides, L. nigricans, L. lamottei and L. tomentosus. The number of polypeptide bands detected in particular taxa varied from 22 in L. lamottei to 35 i...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
abstract：:In this study a wide range of genetic markers (12 microsatellites, 7 blood-group loci, 10 blood-protein loci) and mitochondrial DNA (mtDNA) were used to assess genetic diversity in Polish Heavy horses. Three random samples were sequenced for 421 bp of the mitochondrial D-loop region, but no clear phylogenetic patterns...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03194645
更新日期：2006-01-01 00:00:00
abstract：:Chromosome pairing in tetraploid Secalotriticum was analysed. In the studied plants wheat chromosomes in PMCs during metaphase I showed a higher degree of pairing, in comparison to the rye genome. This is reflected in a very low frequency of univalents and a higher frequency of ring bivalents. The occurrence of wheat ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
abstract：:Quantitative genetic analysis was performed on 10,919 data records collected over three generations from the selection programme for increased body weight at harvest in red tilapia (Oreochromis spp.). They were offspring of 224 sires and 226 dams (50 sires and 60 dams per generation, on average). Linear mixed models w...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0411-8
更新日期：2017-11-01 00:00:00
abstract：:In recent years, the emphasis of theoretical work on phylogenetic inference has shifted from the development of new tree inference methods to the development of methods to measure the statistical support for the topologies. This paper reviews 3 approaches to assign support values to branches in trees obtained in the a...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/BF03195249
更新日期：2008-01-01 00:00:00
abstract：:The introduction of non-native crayfish in aquatic ecosystems is very common due to human activities (e.g. aquaculture, recreational and commercial fisheries). The signal crayfish, Pacifastacus leniusculus (Dana, 1852), is one of the most widespread invasive species in Europe. Although several important ecological and...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-015-0272-y
更新日期：2015-08-01 00:00:00
abstract：:Psoriasis is a common skin disease with a genetic background and significant human leukocyte antigen (HLA) associations. HLA-Cw6 is the most frequently described association, particularly with psoriasis of the early onset type. Few studies of its correlation with various psoriasis clinical phenotypes and severity of t...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2004-01-01 00:00:00
abstract：:Differentiated thyroid cancer (DTC) has one of the lowest cancer mutational burdens, while anaplastic thyroid cancer (ATC) has a much higher mutation frequency. A fraction of ATC has an associated differentiated component, which suggests the coevolution of both cancers. Here, we aimed to compare mutation frequency in ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-020-00594-0
更新日期：2021-02-01 00:00:00
abstract：:Recent evidence indicates an important role of inflammation pathways, airways remodeling and epithelium activation in asthma genetics. In particular, transcriptome studies have detected differentially expressed genes involved in eosinophil apoptosis, the arginase pathway, response to allergens or interleukins, and to ...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：
更新日期：2005-01-01 00:00:00
abstract：:Myogenic factor 5 (myf-5) is the product of the MYF5 gene, belonging to the MyoD family. This transcription factor participates in the control of myogenesis. We identified 3 new mutations in the promoter region of the gene: A65C, C580T and C613T. The aim of this study was to evaluate the influence of the A65C transver...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03194600
更新日期：2006-01-01 00:00:00
