Abstract:
:In order to evaluate the phenotypic effects of implanted neural stem cells (NSCs) in the mouse model of Niemann-Pick C (NPC) disease, we injected a well-characterized clone of murine NSCs into the cerebella of neonatal Npc1(-/-) and control mice. The implanted cells survived and were abundant in some regions of the cerebellum. Life span was lengthened in NPC mice with the implanted NSCs. However, the rate of weight gain and subsequent weight loss, resulting from neurodegeneration, was not significantly different from un-injected controls. Ataxia was measured by Rota-Rod performance. The overall rate of decline in time on the Rota-Rod was not significantly slowed down. Thus, in this small group of NPC mice, a single administration in the neonatal period of the NSCs (which were not engineered to over-express the missing gene and not directed into the parenchyma) was only partially therapeutic.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Ahmad I,Hunter RE,Flax JD,Snyder EY,Erickson RPdoi
10.1007/BF03195222subject
Has Abstractpub_date
2007-01-01 00:00:00pages
269-72issue
3eissn
1234-1983issn
2190-3883pii
403journal_volume
48pub_type
杂志文章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::Hemp (Cannabis sativa L.) is a species considered as having one of the most complicated mechanisms of sex determination. Peroxidase and esterase isoenzymes in leaves of the two sexual phenotypes of hemp were studied. Significant differences in isoperoxidase and isoesterase patterns were found between male and female p...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
abstract::Hybrids derived from wheat (Triticum aestivum L.) × rye (Secale cereale L.) have been widely studied because of their important roles in wheat cultivar improvement. Repetitive sequences pAs1, pSc119.2, pTa-535, pTa71, CCS1, and pAWRC.1 are usually used as probes in fluorescence in situ hybridization (FISH) analysis of...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-014-0215-z
更新日期:2014-08-01 00:00:00
abstract::Soluble glycerol-3-phosphate dehydrogenase 1 (GPD1, EC 1.1.1.8) plays important roles in the synthesis of triacylglycerol and in the glycerol-3-phosphate shutter. Though GPD1 is expressed in most adult tissues, little is known about the regulation of its expression. In this study, we analyzed the characters, organizat...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-011-0050-4
更新日期:2011-11-01 00:00:00
abstract::The antibiotic doxycycline is used as an inducer of recombinase (cre)-based conditional gene knockout in mice, which is a common tool to show the effect of disrupted gene functions only in one period of a research animal's life. However, other types of such antibiotics have been shown to have a strong impact on the im...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-017-0401-x
更新日期:2017-11-01 00:00:00
abstract::Starting from two datasets of codon usage in coding sequences from mesophilic and thermophilic bacteria, we used internal correspondence analysis to study the variability of codon usage within and between species, and within and between amino acids. The first dataset included 18,958,458 codons from 58,482 coding seque...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2003-01-01 00:00:00
abstract::Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in the general population at a...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-012-0091-3
更新日期:2012-08-01 00:00:00
abstract::To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific con...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-016-0368-z
更新日期:2017-05-01 00:00:00
abstract::Candida sp. have been responsible for an increasing number of infections, especially in patients with immunodeficiency. Species-specific differentiation of Candida sp. is difficult in routine diagnosis. This identification can have a highly significant association in therapy and prophylaxis. This work has shown a new ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-017-0394-5
更新日期:2017-08-01 00:00:00
abstract::Porcine pregnancy-associated glycoprotein genes (pPAG) are known as a multigene family, in which five members have been cloned and sequences of their cDNAs identified. Porcine PAG1 and pPAG3 genes, belonging to the pPAG1-like subfamily, both encode enzymatically inactive precursors. In contrast, cDNAs of pPAG2, pPAG4 ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2001-01-01 00:00:00
abstract::Establishing translocated populations is a common process to preserve and maintain genetic diversity of threatened species. In 2001, three translocated populations of noble crayfish (Astacus astacus) were established in the Czech Republic, founded by either adult or juvenile individuals from three particular source po...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-015-0296-3
更新日期:2016-02-01 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::We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195240
更新日期:2007-01-01 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::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::Philomycus bilineatus is a highly common gastropod mollusk pest in China and is also utilized to treat infectious diseases. However, no genomic resources are available for this non-model species. In the present study, the transcriptomic analysis of P. bilineatus was completed. After sequencing using the next generatio...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-020-00566-4
更新日期:2020-09-01 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::Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, resulting from a deficiency of the enzyme glucocerebrosidase, causing an accumulation of the glycolipid glucocerebroside within lysosomes of macrophages in the reticuloendothelial system. Three major clinical forms have been assigned and more t...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195642
更新日期:2008-01-01 00:00:00
abstract::The role of genetic background in childhood-onset combined pituitary hormone deficiency (CPHD) has been extensively studied. The major contributors are the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes coding transcription factors implicated in pituitary organogenesis. The clinical consequences of mutations encompass impa...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-015-0328-z
更新日期:2016-08-01 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::The Rpi-phu1 gene originates from an interspecific hybrid between Solanum stenotomum and S. phureja, and confers a high level of resistance to Phytophthora infestans (late blight) in potato. The Rpi-phu1 was introduced by crossing at the diploid level into the S. tuberosum gene pool and then transferred to the tetrapl...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03195721
更新日期:2010-01-01 00:00:00
abstract::A linkage map of garden pea was constructed on the basis of 114 plants (F2 generation) derived from a cross combination Wt10245 x Wt11238. The map, consisting of 204 morphological, isozyme, AFLP, ISSR, STS, CAPS and RAPD markers, was used for interval mapping of quantitative trait loci (QTLs) controlling seed number, ...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:
更新日期:2004-01-01 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::Tumour necrosis factor alpha (TNF-α) is one kind of cytokines which is related to inflammation and lipid metabolism. TNF-α cDNA was cloned from the liver of blunt snout bream (Megalobrama amblycephala) through real-time polymerase chain reaction (PCR) and rapid amplification of cDNA ends (RACE) methods. The full-lengt...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-017-0390-9
更新日期:2017-08-01 00:00:00
abstract::This review presents the basic problems and currently available molecular techniques used for genetic profiling in disaster victim identification (DVI). The environmental conditions of a mass disaster often result in severe fragmentation, decomposition and intermixing of the remains of victims. In such cases, traditio...
journal_title:Journal of applied genetics
pub_type: 杂志文章,评审
doi:10.1007/s13353-011-0068-7
更新日期:2012-02-01 00:00:00
abstract::Functional lox-like sequences have been identified within the yeast and mammalian genome. These hetero-specific lox sites also allow Cre recombinase to specifically target efficient integration of exogenous DNA into the endogenous pseudo-lox (ψlox) sequences that occur naturally in the host genome using a Cre/loxP int...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-010-0011-3
更新日期:2011-02-01 00:00:00
abstract::Single-nucleotide polymorphisms in genes involved in DNA-damage-induced responses are reported frequently to be a risk factor in various cancer types. Here we analysed polymorphisms in 5 genes involved in DNA repair (XPD Asp312Asn and Lys751Gln, XRCC1 Arg399Gln, APE1 Asp148Glu, NBS1 Glu185Gln, and XPA G-4A) and in a g...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/BF03208865
更新日期:2010-01-01 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 quality of wheat depends on a large complex of genes and environmental factors. The objective of this study was to identify quantitative trait loci controlling technological quality traits and their stability across environments, and to assess the impact of interaction between alleles at loci Glu-1 and Glu-3 on gr...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-016-0362-5
更新日期:2017-02-01 00:00:00
abstract::Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental consanguinity may lead to higher risk of ASD and to more severe clinical presentations in the offspring. Studi...
journal_title:Journal of applied genetics
pub_type: 杂志文章
doi:10.1007/s13353-018-0472-3
更新日期:2019-02-01 00:00:00