Abstract：
:We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Tassano E,Janis S,Canepa A,Zanotto E,Torello C,Gimelli G,Cuoco Cdoi
10.1007/s13353-015-0333-2subject
Has Abstractpub_date
2016-08-01 00:00:00pages
357-62issue
3eissn
1234-1983issn
2190-3883pii
10.1007/s13353-015-0333-2journal_volume
57pub_type
杂志文章,评审abstract：:The simplified AFLP method was developed and evaluated for identification and genetic diversity studies of wheat cultivars. Selective primers exploited in AFLP assay based on a single cutting enzyme PstI ((PstI)AFLP) generated total of 111 robust fragments, including 67 (60%) monomorphic and 12 (11%) cultivar-specific...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
abstract：:Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex. About ha...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-012-0126-9
更新日期：2013-02-01 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：: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：: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：:Investigations on the impact of chemicals on the environment and human health have led to the development of an exposome concept. The exposome refers to the totality of exposures received by a person during life, including exposures to life-style factors, from the prenatal period to death. The exposure to genotoxic ch...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-016-0380-3
更新日期：2017-08-01 00:00:00
abstract：:Atherosclerosis is the most common cause of death globally. It is a complex disease involving morphological and cellular changes in vascular walls. Studying molecular mechanism of the disease is hindered by disease complexity and lack of robust noninvasive diagnostics in human. Mouse models are the most popular animal...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-013-0134-4
更新日期：2013-05-01 00:00:00
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：:Progress in mammalian cloning started from cloning embryos (of mice, rats, rabbits, sheep, goats, pigs, cattle and rhesus monkeys) and culminated in obtaining clones of sheep, cattle, pigs and mice from adult somatic cells. Knowing the relationship between the cell cycles of the recipient and the donor of cell nucleus...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2001-01-01 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：:Polymorphisms in the coding region of the prion protein gene (PRNP) have been associated with the susceptibility and incubation period of prion diseases in humans and sheep. However, polymorphisms in this part of the bovine PRNP gene do not affect the classical bovine spongiform encephalopathy (BSE) susceptibility in ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-012-0102-4
更新日期：2012-08-01 00:00:00
abstract：:Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-containing protein 62. Patients with WDR62 mutation may have a wide range of...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-019-00486-y
更新日期：2019-05-01 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：:Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0408-3
更新日期：2017-11-01 00:00:00
abstract：:Pigs as a source of grafts for xenotransplantation can help to overcome the rapidly growing shortage of human donors. However, in the case of pig-to-human transplantation, the antibody-xenoantigen complexes lead to the complement activation and immediate hyperacute rejection. Methods eliminating hyperacute rejection (...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-014-0261-6
更新日期：2015-05-01 00:00:00
abstract：:Pre-harvest sprouting (PHS) and seed longevity (SL) are complex biological processes of major importance for agricultural production. In the present study, a recombinant inbred line (RIL) population derived from a cross between the German winter wheat (Triticum aestivum L.) cultivars History and Rubens was used to ide...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0422-5
更新日期：2018-02-01 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：: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：: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：:Interspecific amphihaploid and amphidiploid hybrids between Nicotiana glauca Grah. (2n = 24) and N. tabacum L. (2n = 48) cultivars BY 103 and K 326 were analysed. F1 amphihaploids (2n = 36) were viable and completely self- and cross-sterile, and mostly univalents were present during meiosis (with pairing range from 0 ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2003-01-01 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：: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：:Oil palm (Elaeis guineensis Jacq.) is an outbreeding perennial tree crop with long breeding cycles, typically 12 years. Molecular marker technologies can greatly improve the breeding efficiency of oil palm. This study reports the first use of the DArTseq platform to genotype two closely related self-pollinated oil pal...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0420-7
更新日期：2018-02-01 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：: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 glyceraldehyde-3-phosphate dehydrogenase promoter of the food yeast Candida utilis strain NRRL Y-660 was cloned to create a novel integrative vector for Agrobacterium tumefaciens-mediated transformation. The new binary vector harbors β-glucuronidase activity as reporter and kanamicin/geneticin resistance as select...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-013-0162-0
更新日期：2013-11-01 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：: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：:Relationship coefficients are particularly useful to improve genetic management of endangered populations. These coefficients are traditionally based on pedigree data, but in case of incomplete or inexistent pedigrees they are replaced by coefficients calculated from molecular data. The main objective of this study wa...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195664
更新日期：2009-01-01 00:00:00
abstract：:The Npc1nih/nih-null model and the Npc1nmf164/nmf164 hypomorph models of Niemann-Pick C1 (NPC1) disease show defects in olfaction. We have tested the effects of the life-prolonging treatment hydroxypropyl-beta-cyclodextrin (HPBCD) on olfaction and neural stem cell numbers when delivered either systemically or by nasal...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-019-00517-8
更新日期：2019-11-01 00:00:00
