当前位置： SCI文献检索 > MOLECULAR AND CELLULAR PROBES期刊下所有文献 > What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

Abstract：

:The impact that next-generation sequencing technology (NGS) is having on many aspects of molecular and cell biology, is becoming increasingly apparent. One of the most noticeable outcomes of the new technology in human genetics, has been the accelerated rate of identification of disease-causing genes. Especially for rare, heterogeneous disorders, such as autosomal recessive primary microcephaly (MCPH), the handful of genes previously known to harbour disease-causing mutations, has grown at an unprecedented rate within a few years. Knowledge of new genes mutated in MCPH over the last four years has contributed to our understanding of the disorder at both the clinical and cellular levels. The functions of proteins such as WDR62, CASC5, PHC1, CDK6, CENP-E, CENP-F, CEP63, ZNF335, PLK4 and TUBGPC, have been added to the complex network of critical cellular processes known to be involved in brain growth and size. In addition to the importance of mitotic spindle assembly and structure, centrosome and centriole function and DNA repair and damage response, new mechanisms involving kinetochore-associated proteins and chromatin remodelling complexes have been elucidated. Two of the major contributions to our clinical knowledge are the realisation that primary microcephaly caused by mutations in genes at the MCPH loci is seldom an isolated clinical feature and is often accompanied either by additional cortical malformations or primordial dwarfism. Gene-phenotype correlations are being revisited, with a new dimension of locus heterogeneity and phenotypic variability being revealed.

journal_name

Mol Cell Probes

journal_title

Molecular and cellular probes

authors

Morris-Rosendahl DJ,Kaindl AM

doi

10.1016/j.mcp.2015.05.015

subject

Has Abstract

pub_date

2015-10-01 00:00:00

pages

271-81

issue

5

eissn

0890-8508

issn

1096-1194

pii

S0890-8508(15)30012-8

journal_volume

29

pub_type

杂志文章,评审

相关文献

MOLECULAR AND CELLULAR PROBES文献大全
  • Rapid prediction of inducible clarithromycin resistance in Mycobacterium abscessus.

    abstract：:We have developed a single tube TaqMan(®) real-time PCR assay that differentiates the full-length and truncated erm(41) gene to predict inducible resistance to clarithromycin in Mycobacterium abscessus. A study of 87 clinical isolates found this assay to be 90.8% concordant to conventional drug susceptibility testing ...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2015.08.007

    authors： Zhu YC,Mitchell KK,Nazarian EJ,Escuyer VE,Musser KA

    更新日期：2015-12-01 00:00:00

  • Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion.

    abstract：:Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron 1 (SMN1) gene. Approximately 94% of SMA patients carry homologous deletions of SMN1 exon(...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2009.12.001

    authors： Baris I,Etlik O,Koksal V,Arican-Baris ST

    更新日期：2010-06-01 00:00:00

  • Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

    abstract：:The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation, delta F508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been ac...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/s0890-8508(95)80038-7

    authors： Férec C,Novelli G,Verlingue C,Quéré I,Dallapiccola B,Audrézet MP,Mercier B

    更新日期：1995-04-01 00:00:00

  • Non-radioactive detection of Mycobacterium tuberculosis LCR products in a microtitre plate format.

    abstract：:As part of the development of the ligase chain reaction (LCR) into a tool which can be used by a wide variety of researchers, we have investigated several analytical detection systems for the products of this amplification reaction. While early work with this technology has used gel electrophoresis to separate the LCR...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1006/mcpr.1993.1027

    authors： Winn-Deen ES,Batt CA,Wiedmann M

    更新日期：1993-06-01 00:00:00

  • Development of TaqMan RT-qPCR for the detection of type A human respiratory syncytial virus.

    abstract：:The human respiratory syncytial virus is a common respiratory pathogen in children. Improved diagnosis of the virus is dependent on the development of tools for the rapid detection and estimation of the viral loads. In the current study, RT-qPCR using TaqMan hydrolysis probe based on the F gene detection was developed...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2017.02.006

    authors： Abdel-Moneim AS,Shehab GM,Alsulaimani AA,Al-Malky MIR

    更新日期：2017-06-01 00:00:00

  • CircHIPK3 regulates melanoma cell behaviors by binding with miR-215-5p to upregulate YY1.

    abstract：OBJECT:To investigate the role of circHIPK3 in melanoma. METHODS:Bioinformatics analysis and experiments including RT-qPCR, Pearson's correlation analysis, luciferase reporter, Western blot, and RIP assays were applied to explore the function and mechanism of circHIPK3 in melanoma. RESULTS:CircHIPK3 expression was st...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2020.101644

    authors： Zhu X,Sun J

    更新日期：2020-10-01 00:00:00

  • Amplification of three hypervariable DNA regions by polymerase chain reaction for paternity determinations: comparison with conventional methods and DNA fingerprinting.

    abstract：:The present study evaluates the usefulness of a PCR-based method for routine paternity testing in 35 paternity cases. This identification method which is based on amplification of three hypervariable genetic loci, apoB, D1S80 and HLA-DQ alpha, is compared, with regard to reliability and technical feasibility, to the c...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/0890-8508(92)90067-8

    authors： Helminen P,Sajantila A,Johnsson V,Lukka M,Ehnholm C,Peltonen L

    更新日期：1992-02-01 00:00:00

  • DNA typing of HLA-B27 by polymerase chain reaction.

    abstract：:To find a specific method for HLA-B27 typing, we tested an HLA-B27-specific polymerase chain reaction. This method was used for screening 100 randomly selected blood donors, 10 of them being HLA-B27 positive. A flow cytometric method and this PCR method were compared. ...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1006/mcpr.1997.0112

    authors： Lucotte G,Burckel A

    更新日期：1997-08-01 00:00:00

  • Fast and sensitive quantitative detection of HIV DNA in whole blood leucocytes by SYBR green I real-time PCR assay.

    abstract：:The aim of this study was the development of a real-time PCR for HIV DNA quantification in whole blood leucocytes providing an alternative assay to those already described, almost based on the gag gene detection. The technique (pbs-rtPCR assay) is more rapid (the whole assay required less than 5h), easy to perform, om...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2007.05.005

    authors： Casabianca A,Gori C,Orlandi C,Forbici F,Federico Perno C,Magnani M

    更新日期：2007-10-01 00:00:00

  • No difference in antibody titers against xenotropic MLV related virus in prostate cancer cases and cancer-free controls.

    abstract：:New ELISA assays were developed to measure immunoreactivity for XMRV. Antibody titers were measured in a cohort of prostate cancer cases and cancer free controls from the central United States. No statistically significant differences were observed in immunoreactivity between cases and controls for either the XMRV-env...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2011.01.005

    authors： Sabunciyan S,Mandelberg N,Rabkin CS,Yolken R,Viscidi R

    更新日期：2011-04-01 00:00:00

  • PRPF4 is a novel therapeutic target for the treatment of breast cancer by influencing growth, migration, invasion, and apoptosis of breast cancer cells via p38 MAPK signaling pathway.

    abstract：:Pre-mRNA processing factor 4 (PRPF4), a core protein in U4/U6 snRNP, maintains snRNP structures by interacting with PRPF3 and cyclophilin H. Expression of the PRPF4 gene affects cell survival as well as apoptosis and is responsible for retinitis pigmentosa (RP). Proteomics analysis shows that PRPF4 may be a therapeuti...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2019.101440

    authors： Park S,Han SH,Kim HG,Jeong J,Choi M,Kim HY,Kim MG,Park JK,Han JE,Cho GJ,Kim MO,Ryoo ZY,Choi SK

    更新日期：2019-10-01 00:00:00

  • Evaluation of a DNA probe of plasmid origin for the detection of Chlamydia trachomatis in cultures and clinical specimens.

    abstract：:This study evaluates five cryptic plasmid-derived DNA probes in a 4-h slot-blot hybridization assay for the detection of Chlamydia trachomatis in cultures and clinical specimens. The probes, consisting of either the entire cloned 7.5 kbp cryptic plasmid pSE8 or one of four Hin dIII/Eco RI fragments measuring 710, 1055...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/s0890-8508(05)80013-1

    authors： Cano RJ,Murrieta CM,Spaulding DC,Pascual A

    更新日期：1991-12-01 00:00:00

  • Evaluation of PCR and nested PCR for laboratory diagnosis of hepatitis C virus infection.

    abstract：:The detection of hepatitis C virus (HCV) RNA by nested polymerase chain reaction (PCR) is believed to be the most reliable method to diagnose HCV infections. A pitfall of nested PCR is that it is prone to contamination. Single step reverse transcription-PCR (RT-PCR) was performed, prospectively, on 80 sera from 59 pat...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1006/mcpr.1996.0024

    authors： Aslanzadeh J,Padilla BB,Shanley JD

    更新日期：1996-06-01 00:00:00

  • Insulin-like growth factor-I activates NFκB and NLRP3 inflammatory signalling via ROS in cancer cells.

    abstract：:Previous studies have demonstrated that insulin-like growth factor-I (IGF-1) and reactive oxygen species (ROS) are involved in the development and progression of various cancers. However, their regulatory mechanism remains unknown. In this study, we treated cancer cells (HeLa, HepG2 and SW1116 cells) and normal cells ...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2020.101583

    authors： Wang C,An Y,Wang Y,Shen K,Wang X,Luan W,Ma F,Ni L,Liu M,Yu L

    更新日期：2020-08-01 00:00:00

  • Human papillomavirus type 33 DNA and E6-E7 transcripts in late passages of the UT-DEC-1 vaginal keratinocyte cell line.

    abstract：:Transcription of human papillomavirus (HPV) type 33 early region was analysed in the UT-DEC-1 keratinocyte cell line, which has been derived from a HPV-33-containing mild vaginal dysplasia. Fifteen cDNA clones from transcripts from the E6-E7 open reading frames were constructed and analysed. Most clones represented vi...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1006/mcpr.1997.0144

    authors： Auvinen E,Hietanen S,Gissmann L,Alonso A

    更新日期：1998-02-01 00:00:00

  • Selective growth of mosaic cells in chromosomal analysis of chorionic villi by conventional karyotyping.

    abstract：:The major cause of first-trimester pregnancy loss is chromosomal abnormality, which could be detected by many methods. Conventional karyotyping based on chorionic villi (CV) culture is frequently used but may have limitations due to culture failure and selective growth of cells. In this study, we aimed to investigate ...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2020.101532

    authors： Zhang Y,Lei Q,Liu J,Lin M,Luo L,Li T,Wang Q,Zhou C

    更新日期：2020-06-01 00:00:00

  • TotalPlex gene amplification using bulging primers for pharmacogenetic analysis of acute lymphoblastic leukemia.

    abstract：:Genetic polymorphism among patients with acute lymphoblastic leukemia (ALL) is an important factor in the effectiveness and toxicity of anti-leukemic drugs. Genotyping of various polymorphisms that impact the outcome of anti-leukemic drug therapy (pharmacogenetics) presents an attractive approach for developing indivi...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2008.02.001

    authors： Kang HJ,Oh Y,Chun SM,Seo YJ,Shin HY,Kim CW,Ahn HS,Han BD

    更新日期：2008-06-01 00:00:00

  • Rapid PCR using nested primers of the 16S rRNA and the hippuricase (hip O) genes to detect Campylobacter jejuni and Campylobacter coli in environmental samples.

    abstract：:Identification of sources Campylobacter infection in the poultry houses is in general problematic due to the lack of reliable methods to detect campylobacteria in environmental samples. Detection of campylobacteria in environmental samples by conventional culture methods is difficult and of limited sensitivity due to ...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1006/mcpr.2002.0434

    authors： Bang DD,Wedderkopp A,Pedersen K,Madsen M

    更新日期：2002-10-01 00:00:00

  • Direct identification of Pseudomonas aeruginosa from blood culture bottles by PCR-enzyme linked immunosorbent assay using oprI gene specific primers.

    abstract：:A PCR-enzyme-linked immunosorbent assay (PCR-ELISA) was developed for direct identification of Pseudomonas aeruginosa from positive BACTEC blood culture bottles. PCR primers were designed to target a 249 bp sequence of the oprI gene in P. aeruginosa. Biotin-labeled probe (PA3) targeted to the species-specific motif we...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2005.07.005

    authors： Kurupati P,Kumarasinghe G,Laa Poh C

    更新日期：2005-12-01 00:00:00

  • Use of stable dye-DNA intercalating complexes to detect cystic fibrosis mutations.

    abstract：:Several dyes are now known which intercalate into double-stranded DNA with fluorescence enhancement. One such is TOTO (1,1'-(4,4,7,7-tetramethyl-4,7-diazaundecamethylene)-bis-4-[3-meth yl-2,3- dihydro-(benzo-1,3-thiazole)-2-methlyidene]-quinolinium tetraiodide), a homodimer of thiazole orange, whose complexes with DNA...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1006/mcpr.1994.1035

    authors： Axton RA,Brock DJ

    更新日期：1994-06-01 00:00:00

  • Up-regulated miR-374a-3p relieves lipopolysaccharides induced injury in CHON-001 cells via regulating Wingless-type MMTV integration site family member 5B.

    abstract：BACKGROUND:Osteoarthritis (OA) is a frequent and incurable joint disease, inducing significant pain and seriously threatening to human health. It has been reported that microRNAs (miRNAs) play crucial roles on cancers and inflammatory diseases via cooperating with genes. However, the effect of miR-374a-3p/Wingless-type...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2020.101541

    authors： Shi FL,Ren LX

    更新日期：2020-06-01 00:00:00

  • Comparison of enzyme-linked immunosorbent assay (ELISA) with dot hybridization using 32P- or 2-acetylaminofluorene (AAF)-labelled cDNA probes for the detection and characterization of beet necrotic yellow vein virus.

    abstract：:Beet Necrotic Yellow Vein Virus (BNYVV) was detected by enzyme-linked immunosorbent assay (ELISA) and RNA/DNA dot hybridization using either radiolabelled or non-radioactive probes. Dot hybridization specifically distinguished isolates that could not be distinguished by ELISA. The detection thresholds for ELISA, hybri...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/0890-8508(89)90026-1

    authors： Sakamoto H,Lemaire O,Merdinoglu D,Guesdon JL

    更新日期：1989-06-01 00:00:00

  • Detection and molecular typing of Campylobacter jejuni in fecal samples by polymerase chain reaction.

    abstract：:In order to determine whether polymerase chain reaction (PCR) could be used to detect Campylobacter jejuni directly in stool samples, DNA from 66 frozen culture positive and negative fecal samples was purified by column chromatography. The flaA gene was amplified using primers directed against the conserved 5' and 3' ...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1006/mcpr.1996.0011

    authors： Waegel A,Nachamkin I

    更新日期：1996-04-01 00:00:00

  • Reverse transcription loop-mediated isothermal amplification for the rapid detection of infectious bronchitis virus in infected chicken tissues.

    abstract：:A reverse transcription loop-mediated isothermal amplification (RT-LAMP) assay targeting the nucleocapsid phosphoprotein gene of infectious bronchitis virus (IBV) was developed. The detection limits for the IBV RT-LAMP assay were 10(1) 50% egg infection dose (EID(50)) per 50 microl of titrated viruses and no cross-rea...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2009.10.001

    authors： Chen HT,Zhang J,Ma YP,Ma LN,Ding YZ,Liu XT,Cai XP,Ma LQ,Zhang YG,Liu YS

    更新日期：2010-04-01 00:00:00

  • Multiplex RT-PCR assay for simultaneous detection of six viruses of penaeid shrimp.

    abstract：:In the present study, multiplex reverse transcription-polymerase chain reaction (mRT-PCR) was developed for simultaneously detection of six major shrimp viruses including yellow-head virus (YHV), white spot syndrome virus (WSSV), Taura syndrome virus (TSV), hepatopancreatic parvovirus (HPV), infectious hypodermal and ...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2007.12.005

    authors： Khawsak P,Deesukon W,Chaivisuthangkura P,Sukhumsirichart W

    更新日期：2008-06-01 00:00:00

  • Development and validation of a multiplex real-time PCR for detection of Clostridium chauvoei and Clostridium septicum.

    abstract：:Clostridium chauvoei is the causative agent of blackleg in cattle and sheep. The clinical symptoms of this severe disease are very similar to that of malignant edema (Clostridium septicum), infections of other Clostridium species belonging to the gas edema complex, and anthrax (Bacillus anthracis). C. chauvoei and C. ...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2010.03.003

    authors： Lange M,Neubauer H,Seyboldt C

    更新日期：2010-08-01 00:00:00

  • Detection of Pseudomonas aeruginosa in sputum from cystic fibrosis patients by the polymerase chain reaction.

    abstract：:A DNA amplification procedure using heat stable Taq polymerase and the polymerase chain reaction is described for the detection of Pseudomonas aeruginosa in specimens from cystic fibrosis patients. A set of primers was selected on the basis of the nucleotide sequence of the algD gene encoding GDP mannose dehydrogenase...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/0890-8508(92)90005-i

    authors： McIntosh I,Govan JR,Brock DJ

    更新日期：1992-08-01 00:00:00

  • New polymorphisms within the variable number tandem repeat (VNTR) 7 locus of Mycobacterium avium subsp. paratuberculosis.

    abstract：:Variable number tandem repeat (VNTR) is a frequently employed typing method of Mycobacterium avium paratuberculosis (MAP) isolates. Based on whole genome sequencing in a previous study, allelic diversity at some VNTR loci seems to over- or under-estimate the actual phylogenetic variance among isolates. Interestingly, ...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2016.02.002

    authors： Fawzy A,Zschöck M,Ewers C,Eisenberg T

    更新日期：2016-06-01 00:00:00

  • SNP genotyping with FRET probes. Optimizing the resolution of heterozygotes.

    abstract：:Analysis of single nucleotide polymorphisms by PCR with fluorescence resonance energy transfer (FRET) probes often can produce a result where the melting peak corresponding to perfectly matched sequence (A allele) has a smaller area than the peak corresponding to the allele with a mismatch (B allele). This imbalance c...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2004.03.003

    authors： Martínez-García A,Sastre I,Tenorio R,Bullido MJ

    更新日期：2004-08-01 00:00:00

  • Tracking the extramedullary PML-RARα-positive cell reservoirs in a preclinical model: biomarker of long-term drug efficacy.

    abstract：:Using an acute promyelocytic leukemia (APL) preclinical model, we show that oncogene-specific PCR (Polymerase Chain Reaction)-based assays allow to evaluate the efficacy of immunotherapy combining all-trans retinoic acid (ATRA) and a DNA-based vaccine targeting the promyelocytic leukemia-retinoic acid receptor alpha (...

    journal_title：Molecular and cellular probes

    pub_type： 杂志文章

    doi：10.1016/j.mcp.2012.08.001

    authors： Pokorna K,Le Pogam C,Chopin M,Balitrand N,Reboul M,Cassinat B,Chomienne C,Padua RA,Pla M

    更新日期：2013-02-01 00:00:00