当前位置： SCI文献检索 > BIOSCIENCE REPORTS期刊下所有文献 > Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.

Abstract：

:LGMD (limb-girdle muscular dystrophy) and CMD (congenital muscular dystrophy) are two common forms of neuromuscular disorders which are distinguishable by their age of onset but with probably a similar underlying pathway. In the present study, we report immunohistochemical, Western-blot and genetic analyses in a large consanguineous Tunisian family with two branches, including seven patients sharing similar LGMD2 phenotype in one branch and one CMD patient in the other branch. Linkage analyses were compatible with the LGMD2A locus in one branch and the MDC1A (muscular dystrophy congenital type 1A) locus in the other branch. This result was supported by deficiency in merosin and calpain3 in the CMD patient and LGMD patients respectively. Mutation analysis revealed two distinct mutations: a c.8005delT frameshift deletion in exon 56 of the LAMA2 (laminin-α2) gene (MDC1A) was found in the CMD patient and a new homozygous mutation c.1536+1G>T in the donor splice site of intron 12 of the CAPN3 (calpain3) gene (LGMD2A) was found in the LGMD patients. RT-PCR (reverse transcription-PCR) performed on total RNA from a LGMD2A patient's muscle biopsy showed complete retention of intron 12 in CAPN3 cDNA, generating a PTC (premature termination codon) that potentially elicits degradation of the nonsense mRNA by NMD (nonsense-mediated mRNA decay). Our results indicate that mRNA analysis is necessary to clarify the primary effect of genomic mutations on splicing efficiency that alters mRNA processing and expression level.

journal_name

Biosci Rep

journal_title

Bioscience reports

authors

Hadj Salem I,Kamoun F,Louhichi N,Rouis S,Mziou M,Fendri-Kriaa N,Makni-Ayadi F,Triki C,Fakhfakh F

doi

10.1042/BSR20100026

subject

Has Abstract

pub_date

2011-04-01 00:00:00

pages

125-35

issue

2

eissn

0144-8463

issn

1573-4935

pii

BSR20100026

journal_volume

31

pub_type

杂志文章

相关文献

BIOSCIENCE REPORTS文献大全
  • Comprehensive assessment of the association between XPC rs2228000 and cancer susceptibility based on 26835 cancer cases and 37069 controls.

    abstract：:Objectives In the present study, we examined available articles from online databases to comprehensively investigate the effect of the XPC (xeroderma pigmentosum complementation group C) rs2228000 polymorphism on the risk of different types of clinical cancer. Methods We conducted a group of overall and subgroup pooli...

    journal_title：Bioscience reports

    pub_type： 杂志文章,meta分析

    doi：10.1042/BSR20192452

    authors： Dai Y,Song Z,Zhang J,Gao W

    更新日期：2019-12-20 00:00:00

  • Comparative analysis of the complete mitochondrial genomes of three rockfishes (Scorpaeniformes, Sebastiscus) and insights into the phylogenetic relationships of Sebastidae.

    abstract：:Mitochondrial genome is a powerful molecule marker to provide information for phylogenetic relationships and revealing molecular evolution in ichthyological studies. Sebastiscus species, a marine rockfish, are of essential economic value. However, the taxonomic status and phylogenetic relationships of Sebastidae have ...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20203379

    authors： Jia C,Zhang X,Xu S,Yang T,Yanagimoto T,Gao T

    更新日期：2020-12-23 00:00:00

  • Watching small molecules move: interrogating ionic channels using neutral solutes.

    abstract：:Whether they are small enough to wriggle through the current-carrying part of an ionic channel or big enough to be kept outside and thus able to exert an osmotic stress on the channel space, polymers interact with channels in several instructive ways. The osmotic stress of excluded polymers allows one to measure the n...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1007/BF01204353

    authors： Parsegian VA,Bezrukov SM,Vodyanoy I

    更新日期：1995-12-01 00:00:00

  • New developments in crystallography: exploring its technology, methods and scope in the molecular biosciences.

    abstract：:Since the Protein Data Bank (PDB) was founded in 1971, there are now over 120,000 depositions, the majority of which are from X-ray crystallography and 90% of those made use of synchrotron beamlines. At the Cambridge Structure Database (CSD), founded in 1965, there are more than 800,000 'small molecule' crystal struct...

    journal_title：Bioscience reports

    pub_type： 杂志文章,评审

    doi：10.1042/BSR20170204

    authors： Helliwell JR

    更新日期：2017-07-04 00:00:00

  • Osteogenic protein-1 attenuates apoptosis and enhances matrix synthesis of nucleus pulposus cells under high-magnitude compression though inhibiting the p38 MAPK pathway.

    abstract：BACKGROUND:Disc degeneration is correlated with mechanical load. Osteogenic protein-1 (OP-1) is potential to regenerate degenerative disc. OBJECTIVE:To investigate whether OP-1 can protect against high magitude compression-induced nucleus pulposus (NP) cell apoptosis and NP matrix catabolism, and its potential mechani...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20180018

    authors： Fang H,Li X,Shen H,Sun B,Teng H,Li P

    更新日期：2018-02-13 00:00:00

  • Regulation of circGOLPH3 and its binding protein CBX7 on the proliferation and apoptosis of prostate cancer cells.

    abstract：:To clarify the mechanism of circGOLPH3 regulation on prostate cancer cells, we performed an overexpression and interference circGOLPH3 assay in prostate cancer cells PC-3 and then evaluated cellular viability, proliferation, cell cycle, and apoptosis of prostate cancer cells by MTT, CCK8, Edu stain, TUNEL stain, and f...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20200936

    authors： Gong L,Tang Y,Jiang L,Tang W,Luo S

    更新日期：2020-12-23 00:00:00

  • Increased expression of SET domain-containing proteins and decreased expression of Rad51 in different classes of renal cell carcinoma.

    abstract：:In the present study, we aimed to examine whether SET domain-containing methyltransferases are up-regulated in different classes of renal cell carcinoma. We immunoblotted against SET domain and quantified the expression of these modular domains. Furthermore, we examined the expression of Rad51, the key protein that co...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20160122

    authors： Liu S,Li Y,Xu H,Wang K,Li N,Li J,Sun T,Xu Y

    更新日期：2016-06-30 00:00:00

  • The catalytic inactivation of the N-half of human hexokinase 2 and structural and biochemical characterization of its mitochondrial conformation.

    abstract：:The high proliferation rate of tumor cells demands high energy and metabolites that are sustained by a high glycolytic flux known as the 'Warburg effect'. The activation and further metabolism of glucose is initiated by hexokinase, a focal point of metabolic regulation. The human hexokinase 2 (HK2) is overexpressed in...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20171666

    authors： Nawaz MH,Ferreira JC,Nedyalkova L,Zhu H,Carrasco-López C,Kirmizialtin S,Rabeh WM

    更新日期：2018-02-21 00:00:00

  • Chondroitin sulphate at the endothelial lumen of pig aorta: assay by radiolabelling and by X-ray microanalysis.

    abstract：:Trypsin-releasable glycosaminoglycans from the luminal surface of intact pig aorta were measured following metabolic labelling with [35S]sulphate. Chondroitin sulphate was found to be present at a surface density equal to that already established for heparan sulphate (5 X 10(11) chains per cm2). This result was confir...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1007/BF01124788

    authors： Hale G,Streeter HB,Hann AC,Gacesa P,Wusteman FS

    更新日期：1987-03-01 00:00:00

  • Up-regulation of KIF14 is a predictor of poor survival and a novel prognostic biomarker of chemoresistance to paclitaxel treatment in cervical cancer.

    abstract：:Kinesin family member 14 (KIF14) is a member of kinesin family proteins which have been found to be dysregulated in various cancer types. However, the expression of KIF14 and its potential prognostic significance have not been investigated in cervical cancer. Real-time PCR was performed to assess the expression levels...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20150314

    authors： Wang W,Shi Y,Li J,Cui W,Yang B

    更新日期：2016-04-05 00:00:00

  • Cocktail supplement with rosiglitazone: a novel inducer for chicken preadipocyte differentiation in vitro.

    abstract：:The preadipocyte differentiation biological process involves a cascade of transcriptional events that culminates in the expression of peroxisome proliferator-activated receptor (PPAR) γ. The differentiation cocktail [insulin (INS), dexamethasone (DEX) and isobutylmethylxanthine (IBMX)] can induce preadipocyte differen...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20160049

    authors： Cheng B,Wu M,Xu S,Zhang X,Wang Y,Wang N,Leng L,Li H

    更新日期：2016-11-03 00:00:00

  • Mitochondria of adult human brown adipose tissue contain a 32 000-Mr uncoupling protein.

    abstract：:Using both immunohistological study and photoaffinity labelling with radioactive azido-ATP, evidence is presented that the mitochondrial membranes of the brown adipose tissue of the human adult contain a 32 000-Mr uncoupling protein, which is probably similar to the uncoupling protein of BAT of rodents. ...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1007/BF01120989

    authors： Bouillaud F,Combes-George M,Ricquier D

    更新日期：1983-08-01 00:00:00

  • Effect of rivaroxaban on preventing deep vein thrombosis in aged diabetics with femoral neck fractures after hip replacement.

    abstract：:The present study estimates the effect of rivaroxaban on preventing deep vein thrombosis (DVT) in aged diabetics with femoral neck fractures after hip replacement. Our study consisted of 236 aged diabetics with femoral neck fractures, which were divided into the rivaroxaban and control groups. Reaction time (R time), ...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20170289

    authors： Zhang YM,Jiang X,Sun YS

    更新日期：2017-06-21 00:00:00

  • Silencing of MBD1 and MeCP2 in prostate-cancer-derived PC3 cells produces differential gene expression profiles and cellular phenotypes.

    abstract：:Alterations in genomic CpG methylation patterns have been found to be associated with cell transformation and neoplasia. Although it is recognized that methylation of CpG residues negatively regulates gene expression, how the various MBPs (methyl-binding proteins) contribute to this process remains elusive. To determi...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20080032

    authors： Yaqinuddin A,Abbas F,Naqvi SZ,Bashir MU,Qazi R,Qureshi SA

    更新日期：2008-12-01 00:00:00

  • Lytic effect of heparin on liposomes: possible mechanism of lysis of red blood cells by heparin.

    abstract：:Heparin causes lysis of the multilamellar liposomes of all three charges, positive, neutral, and negative, and thus releases the entrapped [3H]glucose or chromate. The lytic effect of heparin is also observed in liposomes prepared from the lipids extracted from human red blood cells. Heparin is found to interact with ...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1007/BF01121569

    authors： Patel HM,Parvez N,Field J,Ryman BE

    更新日期：1983-01-01 00:00:00

  • Characterization of the somatostatin-like immunoreactivity extracted from an adrenal medullary tumour.

    abstract：:Significant amounts of somatostatin-like immunoreactivity (SLI) were detected in the extract of a human catecholamine-secreting adrenal medullary tumour. After salt fractionation and reconstitution the major portion of SLI was purified by gel filtration and two HPLC steps; in all three systems it eluted in the positio...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1007/BF01116377

    authors： Corder R,Sykes JE,Lowry PJ

    更新日期：1982-03-01 00:00:00

  • The exon junction complex senses energetic stress and regulates contractility and cell architecture in cardiac myocytes.

    abstract：:The exon junction complex (EJC) is the main mechanism by which cells select specific mRNAs for translation into protein. We hypothesized that the EJC is involved in the regulation of gene expression during the stress response in cardiac myocytes, with implications for the failing heart. In cultured rat neonatal myocyt...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20170707

    authors： Pierrat OA,Paudyal A,Woodruff J,Koroleva O,Boateng SY

    更新日期：2017-07-07 00:00:00

  • Folic acid inhibits nasopharyngeal cancer cell proliferation and invasion via activation of FRα/ERK1/2/TSLC1 pathway.

    abstract：:Folic acid (FA), which is necessary for normal cell division of mammals, has been implicated to be involved in many tumors. Dietary FA intake has been reported to be associated with a lower risk of nasopharyngeal cancer (NPC). However, the molecular mechanisms of FA in NPC cells remain unclear. In the present study, w...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20170772

    authors： Liu Z,Jin X,Pi W,Liu S

    更新日期：2017-12-05 00:00:00

  • The exostosin family of glycosyltransferases: mRNA expression profiles and heparan sulphate structure in human breast carcinoma cell lines.

    abstract：:Breast cancer remains a leading cause of cancer-related mortality in women. In recent years, regulation of genes involved in heparan sulphate (HS) biosynthesis have received increased interest as regulators of breast cancer cell adhesion and invasion. The exostosin (EXT) proteins are glycosyltransferases involved in e...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20180770

    authors： Sembajwe LF,Katta K,Grønning M,Kusche-Gullberg M

    更新日期：2018-08-31 00:00:00

  • LncRNA XIST promotes the progression of laryngeal squamous cell carcinoma via sponging miR-125b-5p to modulate TRIB2.

    abstract：OBJECTIVE:X inactivate-specific transcript (XIST) is an attractive long noncoding RNA (lncRNA) functioning as an indicator of various human tumors, including laryngeal squamous cell carcinoma (LSCC). The present study was conducted to explore a novel regulatory network of lncRNA XIST in LSCC cells. MATERIALS AND METHO...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20193172

    authors： Liu C,Lu Z,Liu H,Zhuang S,Guo P

    更新日期：2020-04-30 00:00:00

  • Biosynthetic capacity of hepatocytes after storage at 4 degrees C.

    abstract：:Capacity to synthesize glucose, urea, and ketone bodies is well maintained in hepatocytes after storage for at least 24 h at 4 degrees C. Substrates and albumin are the only requirements. ...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1007/BF01120697

    authors： Farrell R,Lund P

    更新日期：1983-06-01 00:00:00

  • The regulatory effect of has-circ-0001146/miR-26a-5p/MNAT1 network on the proliferation and invasion of osteosarcoma.

    abstract：:Osteosarcoma is a malignant bone tumour with the lowest survival rates out of all paediatric cancers and is primarily diagnosed in children and adolescents. MNAT1 is a subunit in the cyclin-dependent kinase-activating kinase complex. Abnormal up-regulation of MNAT1 has been associated with the poor prognosis of multip...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20201232

    authors： Wang J,Ni J,Song D,Ding M,Huang J,Li W,He G

    更新日期：2020-06-26 00:00:00

  • Circulating endothelial microparticles and miR-92a in acute myocardial infarction.

    abstract：:Microparticles (MPs) and miRNAs have been shown to play important roles in coronary artery disease (CAD) by monitoring endothelial dysfunction. The present study aims to investigate the diagnostic value of endothelial MPs (EMPs) and miRNAs (miR-92a or miR-23a) as biomarkers in distinguishing patients with acute myocar...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20170047

    authors： Zhang Y,Cheng J,Chen F,Wu C,Zhang J,Ren X,Pan Y,Nie B,Li Q,Li Y

    更新日期：2017-03-27 00:00:00

  • LncRNA PACER is down-regulated in osteoarthritis and regulates chondrocyte apoptosis and lncRNA HOTAIR expression.

    abstract：:LncRNA PACER is a chondrocyte inflammation-associated long non-coding RNA (lncRNA), and chondrocyte inflammation is involved in osteoarthritis (OA). We observed that plasma PACER was down-regulated, while plasma HOTAIR was up-regulated in OA patients. Altered plasma levels of PACER and HOTAIR distinguished OA patients...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20190404

    authors： Jiang M,Liu J,Luo T,Chen Q,Lu M,Meng D

    更新日期：2019-06-07 00:00:00

  • Global DNA demethylation as an epigenetic marker of human brain metastases.

    abstract：:Brain metastases are the most common intracranial tumors in adults. They usually originate from: lung, breast, renal cell and gastrointestinal cancers, as well as melanoma. Prognosis for brain metastases is still poor and classical treatment combining surgery and radiation therapy should be strongly supported with mol...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20180731

    authors： Barciszewska AM

    更新日期：2018-10-22 00:00:00

  • Lack of association between miR-218 rs11134527 A>G and Kawasaki disease susceptibility.

    abstract：:Kawasaki disease (KD) is a type of disease that includes the development of a fever that lasts at least 5 days and involves the clinical manifestation of multicellular vasculitis. KD has become one of the most common pediatric cardiovascular diseases. Previous studies have reported that miR-218 rs11134527 A>G is assoc...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20180367

    authors： Pi L,Fu L,Xu Y,Che D,Deng Q,Huang X,Li M,Zhang L,Huang P,Gu X

    更新日期：2018-05-22 00:00:00

  • Peroxisome proliferator-activated receptor-α-mediated transcription of miR-301a and miR-454 and their host gene SKA2 regulates endothelin-1 and PAI-1 expression in sickle cell disease.

    abstract：:Endothelin-1 (ET-1) and plasminogen activator inhibitor-1 (PAI-1) play important roles in pulmonary hypertension (PH) in sickle cell disease (SCD). Our previous studies show higher levels of placenta growth factor (PlGF) in SCD correlate with increased plasma levels of ET-1, PAI-1, and other physiological markers of P...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20150190

    authors： Gonsalves CS,Li C,Malik P,Tahara SM,Kalra VK

    更新日期：2015-10-12 00:00:00

  • Predicted the P2RX7rs3751143 Polymorphism Is Associated with Cancer Risk:A Meta-Analysis and Systematic Review.

    abstract：BACKGROUND:Both meta-analyses and systematic reviews were used to assess the relationship between purinergic receptor P2X ligand-gated ion channel 7 (P2RX7) rs3751143 polymorphism and the risk of cancer. MATERIALS AND METHODS:The data used in this research were collected from Google Scholar, Web of Science, CNKI, and ...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20193877

    authors： Wang BJ,Chen JY,Guan Y,Liu DC,Cao ZC,Kong J,Wu ZS,Wu WY

    更新日期：2021-01-27 00:00:00

  • Liraglutide inhibits the apoptosis of human nucleus pulposus cells induced by high glucose through PI3K/Akt/caspase-3 signaling pathway.

    abstract：:Diabetes mellitus (DM) is a potential etiology of disc degeneration. Glucagon-like peptide-1 (GLP-1) is currently regarded as a powerful treatment option for type 2 diabetes. Apart from the beneficial effects on glycaemic control, GLP-1 has been reported to exert functions in a variety of tissues on modulation of cell...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1042/BSR20190109

    authors： Ming-Yan Y,Jing Z,Shu-Qin G,Xiao-Liang B,Zhi-Hong L,Xue Z

    更新日期：2019-08-19 00:00:00

  • The role of lysolecithin in the relaxation of vascular smooth muscle.

    abstract：:The effect of lysolecithin (lysophosphatidylcholine) on the relaxation of rabbit aortic strip closely resembled that produced by acetylcholine (ACh) which releases the endothelium-derived relaxing factor (EDRF). Relaxation induced by lysolecithin depended on the presence of endothelium and was inhibited by hemoglobin ...

    journal_title：Bioscience reports

    pub_type： 杂志文章

    doi：10.1007/BF01116751

    authors： Bing RJ,Saeed M

    更新日期：1987-10-01 00:00:00