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 indirectly to limb development.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Duran-Gonzalez J,Gutierrez-Angulo M,Garcia-Cruz D,Ayala Mde L,Padilla M,Davalos IPdoi
10.1007/BF03195240subject
Has Abstractpub_date
2007-01-01 00:00:00pages
405-7issue
4eissn
1234-1983issn
2190-3883pii
421journal_volume
48pub_type
杂志文章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：: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：: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：:Tibetan semi-wild wheat (Triticum aestivum ssp. tibetanum Shao) is one of the Chinese endemic hexaploid wheat genetic resources, distributed only in the Qinghai-Xizang Plateau of China. It has special characters, such as a hulled glume and spike disarticulation. However, seed dormancy, another important character for ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2005-01-01 00:00:00
abstract：:Recently, leaf rust and yellow rust caused by the fungi Puccinia triticina Erikss. and P. striiformis Westend f. sp. tritici Eriks and Henn are diseases of increasing threat in triticale (× Triticosecale Wittmack, AABBRR, 2n = 6x = 42) growing areas. The use of genetic resistance is considered the most economical, eff...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-020-00562-8
更新日期：2020-09-01 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：:Group-1 homoelog genes in wheat genomes encode storage proteins and are the major determinants of wheat product properties. Consequently, understanding the genetic diversity of group-1 homoelogs and genes encoding storage proteins, especially the low-molecular-weight glutenins (LMW-GSs), within wheat landrace genomes ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-020-00564-6
更新日期：2020-09-01 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：: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：:A moderate genotoxic activity of halothane and isoflurane applied as volatile anaesthetics has already been shown. The aim of this work was to estimate a potential genotoxicity of sevoflurane, introduced to clinical practice later than halothane and isoflurane. A genotoxic activity of all three compounds was estimated...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2004-01-01 00:00:00
abstract：:The white coat colour of sheep is an important economic trait. For unknown reasons, some animals are born with, and others develop with time, black skin spots that can also produce pigmented fibres. The presence of pigmented fibres in the white wool significantly decreases the fibre quality. The aim of this work was t...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-011-0066-9
更新日期：2012-02-01 00:00:00
abstract：:Genetic diversity among 35 rice accessions, which included 19 landraces, 9 cultivars and 7 wild relatives, was investigated by using microsatellite (SSR) markers distributed across the rice genome. The mean number of alleles per locus was 4.86, showing 95.2% polymorphism and an average polymorphism information content...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195230
更新日期：2007-01-01 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：: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 milk fatty acid (FA) profile is far from the optimal fat composition in regards to human health. The natural sources of variation, such as feeding or genetics, could be used to increase the concentrations of unsaturated fatty acids. The impact of feeding is well described. However, genetic effects on the milk FA c...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195649
更新日期：2009-01-01 00:00:00
abstract：:Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned o...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-017-0397-2
更新日期：2017-08-01 00:00:00
abstract：:Myostatin (GDF-8) is a key protein responsible for skeletal muscle growth and development, thus mutations in the mstn gene can have major economic and breeding consequences. The aim of the present study was to investigate myostatin gene expression and transcriptional profile in skeletal muscle of Holstein-Friesian (Bl...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195620
更新日期：2008-01-01 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：: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：: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：:The long QT syndrome (LQTS) is an inherited cardiac arrhythmia that may lead to sudden death in the absence of structural heart disease. Mutations in the cardiac potassium and sodium channel genes can be found in approximately 70 percent of patients with a highly probable clinical diagnosis. In this study, we aimed to...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03208882
更新日期：2010-01-01 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 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：:The ErbB signalling network plays a crucial role in the growth and progression of several cancers, including colorectal cancer (CRC), and includes potentially drug-targetable genes. Oncogenic activation of the ErbB pathway by mutations and focal amplifications have emerged recently as an important predictive marker of...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-014-0253-6
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：: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：: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：: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：:In this study we have developed protocols for induced triploidy and gynogenesis of Senegalese sole (Solea senegalensis), a promising flatfish species for marine aquaculture, in order to: 1) identify the sex-determination mechanism; and 2) to improve its production by generating a) sterile fish, avoiding problems relat...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-014-0233-x
更新日期：2015-02-01 00:00:00
abstract：:Interleukin-15 (IL-15) is a cytokine that has been proposed to modulate skeletal muscle and adipose tissue mass. In the present study, an F(2) resource population of Gushi chickens crossed with Anka broilers was used to investigate the genetic effects of the chicken IL-15 gene. Two single nucleotide polymorphisms (SNP...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-012-0111-3
更新日期：2012-11-01 00:00:00
