Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes.

Abstract:

:Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of lower motor neurons. We have assayed deletions in two candidate genes, the survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes, in 108 samples, of which 46 were from SMA patients, and 62 were from unaffected subjects. The SMA patients included 3 from Bahrain, 9 from South Africa, 2 from India, 5 from Oman, 1 from Saudi Arabia, and 26 from Kuwait. SMN gene exons 7 and 8 were deleted in all type I SMA patients. NAIP gene exons 5 and 6 were deleted in 22 of 23 type I SMA patients. SMN gene exon 7 was deleted in all type II SMA patients while exon 8 was deleted in 19 of 21 type II patients. In 1 type II SMA patient, both centromeric and telomeric copies of SMN exon 8 were deleted. NAIP gene exons 5 and 6 were deleted in only 1 type II SMA patient. In 1 of the 2 type III SMA patients, SMN gene exons 7 and 8 were deleted with no deletion in the NAIP gene, while in the second patient, deletions were detected in both SMN and NAIP genes. None of the 62 unaffected subjects had deletions in either the SMN or NAIP gene. The incidence of biallelic polymorphism in SMN gene exon 7 (BsmAI) was found to be similar (97%) to that (98%) reported in a Spanish population but was significantly different from that reported from Taiwan (0%). The incidence of a second polymorphism in SMN gene exon 8 (presence of the sequence ATGGCCT) was markedly different in our population (97%) and those reported from Spain (50%) and Taiwan (0%).

journal_name

J Biomed Sci

authors

Haider MZ,Moosa A,Dalal H,Habib Y,Reynold L

doi

10.1007/BF02256412

keywords:

subject

Has Abstract

pub_date

2001-03-01 00:00:00

pages

191-6

issue

2

eissn

1021-7770

issn

1423-0127

pii

54032

journal_volume

8

pub_type

杂志文章
  • Sensing acidosis: nociception or sngception?

    abstract:BACKGROUND:Sensing tissue acidosis is an important function of the somatosensory nervous system to response to noxious stimuli. MAIN BODY:In the pain clinic, acid or soreness sensation is a characteristic sensory phenotype of various acute and chronic pain syndromes, such as delayed onset muscle soreness, fibromyalgia...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章,评审

    doi:10.1186/s12929-018-0486-5

    authors: Lin JH,Hung CH,Han DS,Chen ST,Lee CH,Sun WZ,Chen CC

    更新日期:2018-11-29 00:00:00

  • Induction of Fas and Fas-ligand expression in plasmacytoma cells by a cytotoxic factor secreted by murine macrophages.

    abstract::Induction of tumoricidal activity is one of the major functions of activated macrophages. Our previous study demonstrated that P388D1 murine macrophage-like cells secreted a plasmacytoma cytotoxic factor (PCF) that selectively killed certain tumor cell lines including MOPC-315 plasmacytoma in vitro. Our subsequent stu...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02255919

    authors: Chu CY,Tseng J

    更新日期:2000-01-01 00:00:00

  • Distinct population of highly malignant cells in a head and neck squamous cell carcinoma cell line established by xenograft model.

    abstract::The progression and metastasis of solid tumors, including head and neck squamous cell carcinoma (HNSCC), have been related to the behavior of a small subpopulation of cancer stem cells. Here, we have established a highly malignant HNSCC cell line, SASVO3, from primary tumors using three sequential rounds of xenotransp...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/1423-0127-16-100

    authors: Chen CY,Chiou SH,Huang CY,Jan CI,Lin SC,Tsai ML,Lo JF

    更新日期:2009-11-16 00:00:00

  • Expression of cyclooxygenase-2 related to angiogenesis in uterine cervical cancers.

    abstract::Angiogenesis is essential for development, growth and advancement of solid tumors. Cyclooxygenase (COX)-2 is recognized as an angiogenic factor in various tumors. This prompted us to study the clinical implications of COX-2 expression related to angiogenesis in uterine cervical cancers. There was a significant correla...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/s11373-006-9114-6

    authors: Fujimoto J,Toyoki H,Sato E,Sakaguchi H,Jahan I,Alam SM,Tamaya T

    更新日期:2006-11-01 00:00:00

  • Ciz1, Cip1 interacting zinc finger protein 1 binds the consensus DNA sequence ARYSR(0-2)YYAC.

    abstract::The matrin 3 family of nuclear proteins consists of members with potentially diverse activities. Matrin 3 and NP220 share RNA-binding domains, and NP220 has been shown to recognize and bind to the DNA sequence, CCCCC (G/C). We have isolated and characterized another member of the matrin 3 family, designated NP94, from...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02256432

    authors: Warder DE,Keherly MJ

    更新日期:2003-07-01 00:00:00

  • Reactive oxygen species-dependent mitochondrial dynamics and autophagy confer protective effects in retinal pigment epithelial cells against sodium iodate-induced cell death.

    abstract:BACKGROUND:Oxidative stress is a major factor in retinal pigment epithelium (RPE) cells injury that contributes to age-related macular degeneration (AMD). NaIO3 is an oxidative toxic agent and its selective RPE cell damage makes it as a reproducible model of AMD. Although NaIO3 is an oxidative stress inducer, the roles...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/s12929-019-0531-z

    authors: Chan CM,Huang DY,Sekar P,Hsu SH,Lin WW

    更新日期:2019-05-22 00:00:00

  • Age-related expressions of p63 and other keratinocyte stem cell markers in rat cornea.

    abstract::In this study, we examined the postnatal expression patterns of p63 and other keratinocyte stem cell markers in the rat cornea in an attempt to determine the markers that best represent characteristics of corneal keratinocyte stem cells. We show that the expression of p63 in the rat cornea is unique and differs from t...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02256130

    authors: Hsueh YJ,Wang DY,Cheng CC,Chen JK

    更新日期:2004-09-01 00:00:00

  • Enhancement of DNA vaccine potency through linkage of antigen gene to ER chaperone molecules, ER-60, tapasin, and calnexin.

    abstract::DNA vaccines have emerged as an attractive approach for generating antigen-specific immunotherapy. Strategies that enhance antigen presentation may potentially be used to enhance DNA vaccine potency. Previous experiments showed that chimeric DNA vaccines utilizing endoplasmic reticulum (ER) chaperone molecules, such a...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/s11373-005-0334-y

    authors: Lin CT,Chang TC,Chao A,Dzeng E,Soong YK,Hung CF,Lai CH

    更新日期:2005-01-01 00:00:00

  • Detection of Divergent Hepatitis C Virus Envelope Sequences.

    abstract::The nucleotide sequences of the putative envelope region (E1) and the junction between the E1 and envelope 2/nonstructural 1 (E2/NS1) region of the hepatitis C virus (HCV) genome are divergent among different genotypes. To characterize them, we introduced a set of nested primers that are conserved among four different...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02253343

    authors: Kao JH,Chen PJ,Lai MY,Yang PM,Sheu JC,Wang TH,Chen DS

    更新日期:1994-06-01 00:00:00

  • Differential behaviour of normal, transformed and Fanconi's anemia lymphoblastoid cells to modeled microgravity.

    abstract:BACKGROUND:Whether microgravity might influence tumour growth and carcinogenesis is still an open issue. It is not clear also if and how normal and transformed cells are differently solicited by microgravity. The present study was designed to verify this issue. METHODS:Two normal, LB and HSC93, and two transformed, Ju...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/1423-0127-17-63

    authors: Cuccarolo P,Barbieri F,Sancandi M,Viaggi S,Degan P

    更新日期:2010-07-28 00:00:00

  • Recombinant Lactobacillus plantarum expressing and secreting heterologous oxalate decarboxylase prevents renal calcium oxalate stone deposition in experimental rats.

    abstract:BACKGROUND:Calcium oxalate (CaOx) is the major constituent of about 75% of all urinary stone and the secondary hyperoxaluria is a primary risk factor. Current treatment options for the patients with hyperoxaluria and CaOx stone diseases are limited. Oxalate degrading bacteria might have beneficial effects on urinary ox...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/s12929-014-0086-y

    authors: Sasikumar P,Gomathi S,Anbazhagan K,Abhishek A,Paul E,Vasudevan V,Sasikumar S,Selvam GS

    更新日期:2014-08-30 00:00:00

  • Suberoylanilide hydroxamic acid represses glioma stem-like cells.

    abstract:BACKGROUND:Glioma stem-like cells (GSCs) are proposed to be responsible for high resistance in glioblastoma multiforme (GBM) treatment. In order to find new strategies aimed at reducing GSC stemness and improving GBM patient survival, we investigated the effects and mechanism of a histone deacetylases (HDACs) inhibitor...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/s12929-016-0296-6

    authors: Hsu CC,Chang WC,Hsu TI,Liu JJ,Yeh SH,Wang JY,Liou JP,Ko CY,Chang KY,Chuang JY

    更新日期:2016-11-18 00:00:00

  • The tumor suppressor DAP-kinase links cell adhesion and cytoskeleton reorganization to cell death regulation.

    abstract::Death-associated protein (DAP)-kinase, an actin-cytoskeleton localized serine/threonine kinase, functions as a novel tumor suppressor and participates in a wide variety of cell death systems. Recent studies indicate that DAP-kinase elicits a potent cytoskeletal reorganization effect and is capable of modulating integr...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章,评审

    doi:10.1007/s11373-005-9063-5

    authors: Chen RH,Wang WJ,Kuo JC

    更新日期:2006-03-01 00:00:00

  • Amelioration of beryllium induced alterations in hepatorenal biochemistry and ultramorphology by co-administration of tiferron and adjuvants.

    abstract::Influence of adjuvants i.e., alpha-tocopherol (25 mg/kg, p.o.) and piperine (10 mg/kg, p.o.) on therapeutic potential of chelator tiferron (300 mg/kg, i.p.) was evaluated to encounter toxicogenic events of beryllium exposure. Albino rats were exposed to beryllium nitrate (1 mg/kg, i.p.) daily for 28 days followed by t...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/s11373-007-9147-5

    authors: Nirala SK,Bhadauria M,Mathur R,Mathur A

    更新日期:2007-05-01 00:00:00

  • Glass needle-mediated microinjection of macromolecules and transgenes into primary human mesenchymal stem cells.

    abstract::Human mesenchymal stem cells (hMSCs) are multipotent cells that can differentiate into various tissue types, including bone, cartilage, tendon, adipocytes, and marrow stroma, making them potentially useful for human cell and gene therapies. Our objective was to demonstrate the utility of glass needle-mediated microinj...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02256452

    authors: Tsulaia TV,Prokopishyn NL,Yao A,Carsrud ND,Carou MC,Brown DB,Davis BR,Yannariello-Brown J

    更新日期:2003-05-01 00:00:00

  • Comprehensive comparison of three different animal models for systemic inflammation.

    abstract:BACKGROUND:To mimic systemic inflammation in humans, different animal models have been developed. Since these models are still discussed controversially, we aimed to comparatively evaluate the most widely used models with respect to the systemic effects, the influence on organ functions and to the underlying pathophysi...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/s12929-017-0370-8

    authors: Seemann S,Zohles F,Lupp A

    更新日期:2017-08-24 00:00:00

  • TGF-β induces HLA-G expression through inhibiting miR-152 in gastric cancer cells.

    abstract:BACKGROUND:Mounting evidences have showed the important role of transforming growth factor-β (TGF-β) in immunological surveillance of tumors. Some studies have also indicated human leukocyte antigen (HLA)-G-associated immune escape involving TGF-β management in gastric cancer (GC). However, the mechanism underlying it ...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/s12929-015-0177-4

    authors: Guan Z,Song B,Liu F,Sun D,Wang K,Qu H

    更新日期:2015-12-02 00:00:00

  • Adeno-associated virus-based vectors in gene therapy.

    abstract::Adeno-associated virus (AAV) vectors were shown capable of high efficiency transduction of both dividing and nondividing cells and tissues. AAV-mediated transduction leads to stable, long-term transgene expression in the absence of apparent immune response. These properties and the broad host range of AAV vectors indi...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章,评审

    doi:10.1007/BF02253246

    authors: Tal J

    更新日期:2000-07-01 00:00:00

  • Differential expression of protein kinases in cultured primary neurons derived from the cerebral cortex, hippocampus, and sympathetic ganglia.

    abstract::Protein kinases play pivotal roles in the development of the nervous system. They are involved in almost every stage of neuronal development, from initial proliferation and differentiation of progenitor cells to pathfinding of neurites and formation of synapses. Activation of protein kinases is also critical for neuro...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02258364

    authors: Lin SD,Fann MJ

    更新日期:1998-01-01 00:00:00

  • Different pathways leading to activation of extracellular signal-regulated kinase and p38 MAP kinase by formyl-methionyl-leucyl-phenylalanine or platelet activating factor in human neutrophils.

    abstract::The signaling pathways leading to extracellular signal-regulated kinase (ERK) and p38 mitogen-activated protein kinase (MAPK) activation by N-formyl-Met-Leu-Phe (fMLP) or platelet activating factor (PAF) in human neutrophils were examined. Previously, we found that changes of intracellular Ca2+ ([Ca2+]i) stimulated by...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/s11373-005-1704-1

    authors: Chen LW,Lin MW,Hsu CM

    更新日期:2005-01-01 00:00:00

  • An LKB1-interacting protein negatively regulates TNFalpha-induced NF-kappaB activation.

    abstract::The Peutz-Jeghers syndrome (PJS) is a hereditary disorder that predisposes an individual to benign and malignant tumors in multiple organ systems. Recently, the locus responsible for PJS was mapped genetically to the LKB1 gene, with a subsequent investigation proving that it is responsible for most cases of PJS. LKB1 ...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02256059

    authors: Liu WK,Chien CY,Chou CK,Su JY

    更新日期:2003-03-01 00:00:00

  • Purification of Moloney murine leukemia virus chromatin from infected cells by an affinity method.

    abstract::Our goal was to develop a system to study proteins that associate in vivo with the Moloney murine leukemia virus (M-MuLV) enhancer elements by the isolation of intact proviral chromatin. The M-MuLV long terminal repeats (LTRs) contain tandemly repeated transcriptional enhancer sequences consisting of smaller motifs th...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02256602

    authors: Granger SW,Fan H

    更新日期:2001-05-01 00:00:00

  • Involvement of lipid rafts in adhesion-induced activation of Met and EGFR.

    abstract:BACKGROUND:Cell adhesion has been shown to induce activation of certain growth factor receptors in a ligand-independent manner. However, the mechanism for such activation remains obscure. METHODS:Human epidermal carcinoma A431 cells were used as a model to examine the mechanism for adhesion-induced activation of hepat...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/1423-0127-18-78

    authors: Lu YC,Chen HC

    更新日期:2011-10-27 00:00:00

  • Whole blood-derived microRNA signatures in mice exposed to lipopolysaccharides.

    abstract:BACKGROUND:Lipopolysaccharide (LPS) is recognized as the most potent microbial mediator presaging the threat of invasion of Gram-negative bacteria that implicated in the pathogenesis of sepsis and septic shock. This study was designed to examine the microRNA (miRNA) expression in whole blood from mice injected with int...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/1423-0127-19-69

    authors: Hsieh CH,Rau CS,Jeng JC,Chen YC,Lu TH,Wu CJ,Wu YC,Tzeng SL,Yang JC

    更新日期:2012-07-31 00:00:00

  • Apolipoprotein E Genotyping in Turkish Myocardial Infarction Survivors and Healthy Controls.

    abstract::The apolipoprotein (Apo) E gene is known to be polymorphic. Three common alleles determine six phenotypes which can easily be detected by restriction fragment length polymorphism. We performed apo E genotyping in myocardial infarction survivors and healthy controls for the first time in the Turkish population. DNA was...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02257924

    authors: Hergenc G,Taga Y,Emerk K,Cirakoglu B

    更新日期:1995-01-01 00:00:00

  • Isoform-specific effects of apoE on neurite outgrowth in olfactory epithelium culture.

    abstract:BACKGROUND:The apolipoprotein E4 (apoE4) genotype is a major risk factor for developing late-onset Alzheimer's disease (AD). Inheritance of apoE4 is also associated with impairments in olfactory function in early stages of AD. In this project we examined the effects of the three common isoforms of human apoE (apoE2, ap...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/1423-0127-20-49

    authors: Hussain A,Luong M,Pooley A,Nathan BP

    更新日期:2013-07-12 00:00:00

  • Toward characterizing extracellular vesicles at a single-particle level.

    abstract::Extracellular vesicles (EVs) are cell-derived membrane-bound vesicles that serve a means of cell-cell communication. Studying EVs at a single-particle level is important because EVs are inherently heterogeneous. Novel micro- and nanotechnological tools have open opportunities for realizing single-EV measurements explo...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章,评审

    doi:10.1186/s12929-019-0502-4

    authors: Chiang CY,Chen C

    更新日期:2019-01-15 00:00:00

  • Organization of HIV-1 pol is critical for Pol polyprotein processing.

    abstract::The HIV pol sequentially encodes protease (PR), reverse transcriptase (RT), and integrase (IN) from the 5'-3' direction. We explored the significance of this gene arrangement. All six possible gene dispositions were examined. In two situations where PR was removed from the leading place and no two genes were in their ...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1007/BF02253522

    authors: Chang YY,Yu SL,Syu WJ

    更新日期:1999-09-01 00:00:00

  • Epigallocatechin-3-gallate-mediated cardioprotection by Akt/GSK-3β/caveolin signalling in H9c2 rat cardiomyoblasts.

    abstract:BACKGROUND:Epigallocatechin-3-gallate (EGCg) with its potent anti-oxidative capabilities is known for its beneficial effects ameliorating oxidative injury to cardiac cells. Although studies have provided convincing evidence to support the cardioprotective effects of EGCg, it remains unclear whether EGCg affect trans-me...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章

    doi:10.1186/1423-0127-20-86

    authors: Hsieh SR,Hsu CS,Lu CH,Chen WC,Chiu CH,Liou YM

    更新日期:2013-11-19 00:00:00

  • Association between genetic variant on chromosome 12p13 and stroke survival and recurrence: a one year prospective study in Taiwan.

    abstract:BACKGROUND:The association between ischemic stroke and 2 single nucleotide polymorphisms (SNPs) on chromosome 12p13, rs12425791 and rs11833579 appears inconsistent across different samples. These SNPs are close to the ninjurin2 gene which may alter the risk of stroke by affecting brain response to ischemic injury. The ...

    journal_title:Journal of biomedical science

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1423-0127-19-1

    authors: Hsieh YC,Seshadri S,Chung WT,Hsieh FI,Hsu YH,Lin HJ,Tseng HP,Lien LM,Bai CH,Hu CJ,Jeng JS,Tang SC,Chen CI,Yu CC,Chiou HY,Formosa Stroke Genetic Consortium (FSGC).

    更新日期:2012-01-03 00:00:00