Abstract：
:Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Ser334del) of the LMNA gene was found. The patient presented with overlapping syndrome of heart failure secondary to dilated cardiomyopathy, limb-girdle dystrophy and partial lipodystrophy. Endomyocardial biopsy revealed strong up-regulation of HLA classes I and II antigens on microvessels and induction of the class I antigens on cardiomyocytes. On muscle biopsy, a wide range of fiber sizes and small clusters of inflammatory infiltrations were found. In the rapid progression of heart failure with arrhythmias or conduction defect, accompanied with muscle atrophy and lipodystrophy, the genetic disease should be taken into consideration. In addition, undefined inflammatory response and fibrosis in the heart or skeletal muscle might further justify screening of the lamin A/C gene.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Madej-Pilarczyk A,Niezgoda A,Janus M,Wojnicz R,Marchel M,Fidziańska A,Grajek S,Hausmanowa-Petrusewicz Idoi
10.1007/s13353-016-0365-2subject
Has Abstractpub_date
2017-02-01 00:00:00pages
87-91issue
1eissn
1234-1983issn
2190-3883pii
10.1007/s13353-016-0365-2journal_volume
58pub_type
杂志文章abstract：:Kernel size and morphology influence the market value and milling yield of bread wheat (Triticum aestivum L.). The objective of this study was to identify quantitative trait loci (QTLs) controlling kernel traits in hexaploid wheat. We recorded 1000-kernel weight, kernel length, and kernel width for 185 recombinant inb...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03208872
更新日期：2010-01-01 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 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：: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：: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 matrix metalloproteinase-2 gene (MMP2) was found to be associated with hip structure in pigs. Recently three quantitative trait loci (QTLs) for loin muscle area were found on chromosome 6, to which MMP2 was mapped. In the present study, association analyses were conducted in two pig populations for a single-nucleo...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03195679
更新日期：2009-01-01 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：: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：:The long QT syndrome (LQTS) is a disorder of ventricular repolarization that exposes affected individuals to cardiac arrhythmias and sudden death. The first gene for LQTS has been mapped to chromosome 11 p.15.5 by genome-wide linkage analysis. This gene, originally named KVLQT1 (and later KCNQ1), is a novel potassium ...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2002-01-01 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：: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：: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：: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：:Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deoxyguanosine kinase (DGUOK) gene mutations. Four affected patients (14...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-010-0008-y
更新日期：2011-02-01 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：: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 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：: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：: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 mode of replication and organisation of bacterial genomes impose asymmetry on their nucleotide composition. The asymmetry is seen in coding and non-coding sequences and is reflected in the amino acid composition of proteins. The mechanisms generating asymmetry include: unequal mutation rates connected with replica...
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 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：: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：:Genetic relationships among 20 elite wheat genotypes were studied using microsatellite markers and pedigree analysis. A total of 93 polymorphic bands were obtained with 25 microsatellite primer pairs. Coefficient of parentage (COP) values were calculated using parentage information at the expansion level of 5. The ped...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2005-01-01 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
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：: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：:Phenylketonuria (PKU) is a metabolic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Although the PAH genotype remains the main determinant of PKU phenotype severity, genotype-phenotype inconsistencies have been reported. In this study, we focused on unanalysed sequences in non-coding PAH gene...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-016-0359-0
更新日期：2017-02-01 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：: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：: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
