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 than 200 gene mutations have been identified. We herein report a Lebanese boy born with a novel combined mutation L371V/Rec-NciI, who presented with moderate-severe type 1 GD. An overview of the clinical and biomarker improvement following enzyme replacement therapy with imiglucerase is described in a follow-up of 30 months. Imiglucerase seems to be efficacious in decreasing the severity of the disease associated with this mutation. However, a high dose may be required to achieve optimal growth, platelet count, and hemoglobin level.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Yassin NA,Muwakkit SA,Ibrahim AO,Kayim IM,Habbal MZ,Chamseddine NM,Musallam KM,Shamseddine AIdoi
10.1007/BF03195642subject
Has Abstractpub_date
2008-01-01 00:00:00pages
421-4issue
4eissn
1234-1983issn
2190-3883pii
477journal_volume
49pub_type
杂志文章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：: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：: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：:In this work, a seed-set-based screening was performed on 70 lines of Arabidopsis thaliana after activation tagging mutagenesis to identify mutations in reproductive mechanisms. Five mutants showed significantly lower seed set than the wild type and confirmed the phenotype in the progeny. This phenotype was linked wit...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03194608
更新日期：2006-01-01 00:00:00
abstract：:This article reviews and updates current information on the possible genetic basis for cutaneous lupus erythematosus. The aetiology of this condition remains unknown and is believed to be multifactorial, involving genetic, environmental and retroviral factors. A genetic predisposition is probably the greatest risk fac...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：
更新日期：2004-01-01 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：: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：: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：: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：: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：: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：:Chicken body weight (BW) is an economically important trait, and many studies have been conducted on genetic selection for BW. However, previous studies have detected functional chromosome mutations or regions using gene chips. The present study used the specific-locus amplified fragment sequencing (SLAF-seq) technolo...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-018-0452-7
更新日期：2018-08-01 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：: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 ce...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195222
更新日期：2007-01-01 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：: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：:The mechanisms of root hair formation have been studied extensively in Arabidopsis but knowledge about these processes in monocot species is still limited, especially in relation to the proteome level. The aim of this study was to identify the proteins that are involved in the initiation and the early stage of root ha...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-012-0105-1
更新日期：2012-11-01 00:00:00
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 selectiv...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195698
更新日期：2009-01-01 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：: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 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：:In addition to their normal developmental processes, plants have evolved complex genetic and epigenetic regulatory mechanisms to cope with various environmental stresses. It has been shown that both DNA methylation and histone modifications are involved in DNA damage response to various types of stresses. In this stud...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-014-0226-9
更新日期：2014-11-01 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：: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：: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：:Powdery mildew is a prevalent fungal disease affecting oat (Avena sativa L.) production in Europe. Common oat cultivar Rollo was previously shown to carry the powdery mildew resistance gene Eg-3 in common with cultivar Mostyn. The resistance gene was mapped with restriction fragment length polymorphism (RFLP) markers ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-011-0077-6
更新日期：2012-05-01 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：: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：:The study aimed at development of a multiplex PCR system for amplification of three Y-chromosome STR loci: DYS390, DYS392 and DYS393, and its application in haplotype polymorphism analysis in the population of northern Poland. Due to interactions between originally published primers, a new DYS392 primer pair was propo...
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 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
