Abstract:
:MicroRNAs (miRs) are non-coding RNA molecules involved in cancer initiation and progression. Deregulated miR expression has been implicated in cancer; however, there are no studies implicating an miR signature associated with progression in oral squamous cell carcinoma (OSCC). Although OSCC may develop from oral leukoplakia, clinical and histological assessments have limited prognostic value in predicting which leukoplakic lesions will progress. Our aim was to quantify miR expression changes in leukoplakia and same-site OSCC and to identify an miR signature associated with progression. We examined miR expression changes in 43 sequential progressive samples from 12 patients and four non-progressive leukoplakias from four different patients, using TaqMan Low Density Arrays. The findings were validated using quantitative RT-PCR in an independent cohort of 52 progressive dysplasias and OSCCs, and five non-progressive dysplasias. Global miR expression profiles distinguished progressive leukoplakia/OSCC from non-progressive leukoplakias/normal tissues. One hundred and nine miRs were highly expressed exclusively in progressive leukoplakia and invasive OSCC. miR-21, miR-181b and miR-345 expressions were consistently increased and associated with increases in lesion severity during progression. Over-expression of miR-21, miR-181b and miR-345 may play an important role in malignant transformation. Our study provides the first evidence of an miR signature potentially useful for identifying leukoplakias at risk of malignant transformation.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Cervigne NK,Reis PP,Machado J,Sadikovic B,Bradley G,Galloni NN,Pintilie M,Jurisica I,Perez-Ordonez B,Gilbert R,Gullane P,Irish J,Kamel-Reid Sdoi
10.1093/hmg/ddp446subject
Has Abstractpub_date
2009-12-15 00:00:00pages
4818-29issue
24eissn
0964-6906issn
1460-2083pii
ddp446journal_volume
18pub_type
杂志文章abstract::Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase C gamma (PKC gamma). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension with inc...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddp298
更新日期:2009-10-01 00:00:00
abstract::Cytosolic accumulation of TAR DNA binding protein 43 (TDP-43) is a major neuropathological feature of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the mechanisms involved in TDP-43 accumulation remain largely unknown. Previously, we reported that inhibitors of cyclin-depen...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu578
更新日期:2015-03-15 00:00:00
abstract::Valosin-containing protein (VCP)-associated disease caused by mutations in the VCP gene includes combinations of a phenotypically heterogeneous group of disorders such as hereditary inclusion body myopathy, Paget's disease of bone, frontotemporal dementia and amyotrophic lateral sclerosis. Currently, there are no effe...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt523
更新日期:2014-03-01 00:00:00
abstract::Mammalian oocytes are arrested at the prophase of meiosis I during fetal or postnatal development, and the meiosis is resumed by the preovulatory surge of luteinizing hormone. The in vivo functional roles of cyclin-dependent kinases (Cdks) during the resumption of meiosis in mammalian oocytes are largely unknown. Prev...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds061
更新日期:2012-06-01 00:00:00
abstract::KDM6B/JMJD3 is a histone H3 lysine demethylase with an important gene regulatory role in development and physiology. Here, we show that human JMJD3 expression is induced by the active vitamin D metabolite 1α,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3)) and that JMJD3 modulates the gene regulatory action of this hormone....
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr399
更新日期:2011-12-01 00:00:00
abstract::Meta-analysis of genome-wide association studies has resulted in the identification of hundreds of genetic variants associated with growth and stature. Determining how these genetic variants influence growth is important, but most are non-coding, and there is little understanding of how these variants contribute to ad...
journal_title:Human molecular genetics
pub_type: 杂志文章,meta分析
doi:10.1093/hmg/ddw165
更新日期:2016-08-01 00:00:00
abstract::Aneuploidy is prevalent in human embryos and is the leading cause of pregnancy loss. Many aneuploidies arise during oogenesis, increasing with maternal age. Superimposed on these meiotic aneuploidies are frequent errors occurring during early mitotic divisions, contributing to widespread chromosomal mosaicism. Here we...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy147
更新日期:2018-07-15 00:00:00
abstract::While several high-resolution recombination maps exist for European-descent populations, the recombination landscape of African populations remains relatively understudied. Given that there is high genetic divergence among groups in Africa, it is possible that recombination hotspots also diverge significantly. Both li...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddab020
更新日期:2021-01-14 00:00:00
abstract::Positional cloning has previously resulted in the identification of a gene which is disrupted by deletions in patients with the classic choroideremia (CHM) phenotype. More subtle mutations had been identified in 4 exons of the 3' portion but not elsewhere in the CHM gene. We have now isolated and characterized the com...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.7.1041
更新日期:1994-07-01 00:00:00
abstract::Mucopolysaccharidosis type VI (MPS-VI), caused by mutational inactivation of the glycosaminoglycan-degrading enzyme arylsulfatase B (Arsb), is a lysosomal storage disorder primarily affecting the skeleton. We have previously reported that Arsb-deficient mice display high trabecular bone mass and impaired skeletal grow...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddaa006
更新日期:2020-03-27 00:00:00
abstract::Understanding mediation is useful for identifying intermediates lying between an exposure and an outcome which, when intervened upon, will block (some or all of) the causal pathway between the exposure and outcome. Mediation approaches used in conventional epidemiology have been adapted to understanding the role of mo...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw197
更新日期:2016-10-01 00:00:00
abstract::Proximal spinal muscular atrophy (SMA) is a common autosomal recessive childhood form of motor neuron disease. Previous studies have highlighted nerve- and muscle-specific events in SMA, including atrophy of muscle fibres and post-synaptic motor endplates, loss of lower motor neuron cell bodies and denervation of neur...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddm367
更新日期:2008-04-01 00:00:00
abstract::We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII errors. The latter ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddm148
更新日期:2007-08-15 00:00:00
abstract::Although hundreds of genome-wide association studies-implicated loci have been reported for adult obesity-related traits, less is known about the genetics specific for early-onset obesity and with only a few studies conducted in non-European populations to date. Searching for additional genetic variants associated wit...
journal_title:Human molecular genetics
pub_type: 杂志文章,meta分析
doi:10.1093/hmg/ddz161
更新日期:2019-10-01 00:00:00
abstract::Lysosomal storage diseases are due to inherited deficiencies in various enzymes involved in basic metabolic processes. As with other genetic diseases, accurate structure data for these enzymatic proteins should help in better understanding the molecular effects of mutations identified in patients with the correspondin...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/9.6.967
更新日期:2000-04-12 00:00:00
abstract::Multicentric chromosomes are often found in tumor cells and certain cell lines. How they are generated is not fully understood, though their stability suggests that they are non-functional during chromosome segregation. Growing evidence has implicated microtubule motor proteins in attachment of chromosomes to the mito...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.4.671
更新日期:1998-04-01 00:00:00
abstract::The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive chromatin insulator. Deletions removing part of IC1 have been found in patients affected by the overgrowth- and tumour-associated Beckwith-Wiedemann syndrome (BWS). T...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn031
更新日期:2008-05-15 00:00:00
abstract::Recombination, demographic history, drift and selection influence the extent of linkage disequilibrium (LD) in the human genome, but their relative contributions remain unclear. To investigate the effect of meiotic recombination versus population history on LD, three populations with different demographic histories (U...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg008
更新日期:2003-01-01 00:00:00
abstract::Parkinson's disease (PD) is characterized by selective degeneration of dopaminergic neurons. Although the etiology of PD remains incompletely understood, oxidative stress has been implicated as an important contributor in the development of PD. Oxidative stress can lead to oxidation and functional perturbation of prot...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu542
更新日期:2015-03-01 00:00:00
abstract::Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by clinical disease caused by weakly virulent mycobacteria, such as environmental mycobacteria and Bacillus Calmette-Guérin vaccines, in otherwise healthy individuals. All known genetic etiologies disrupt interferon (IFN)-γ immunity. Germline bi...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy275
更新日期:2018-11-15 00:00:00
abstract::Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the prese...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/3.11.1945
更新日期:1994-11-01 00:00:00
abstract::Growing evidence suggests that amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disease that primarily affects motor neurons and, though less evidently, other neuronal systems. About 75% of sporadic and familial ALS patients show a subclinical degeneration of small-diameter fibers, as measured by...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw035
更新日期:2016-04-15 00:00:00
abstract::Ubiquinone (UQ), a.k.a. coenzyme Q, is a redox-active lipid that participates in several cellular processes, in particular mitochondrial electron transport. Primary UQ deficiency is a rare but severely debilitating condition. Mclk1 (a.k.a. Coq7) encodes a conserved mitochondrial enzyme that is necessary for UQ biosynt...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt330
更新日期:2013-12-01 00:00:00
abstract::Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular disease that affects the aorta, carotid, coronary and pulmonary arteries. Previous molecular genetic data have led to the hypothesis that SVAS results from mutations in the elastin gene, ELN. In these studies, the disease phenotype was linked to...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/6.7.1021
更新日期:1997-07-01 00:00:00
abstract::Cardiac hypertrophy, an adaptive process that responds to increased wall stress, is characterized by the enlargement of cardiomyocytes and structural remodeling. It is stimulated by various growth signals, of which the mTORC1 pathway is a well-recognized source. Here, we show that loss of Flcn, a novel AMPK-mTOR inter...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu286
更新日期:2014-11-01 00:00:00
abstract::Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. Nuclear modifier genes are proposed to modify the phenotypic expression of LHON-associated mitochondrial DNA (mtDNA) mutations. By using an exome sequencing approach, we identified a LHON susceptibility allele (c.572G>T, p.191Gly>Val...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv498
更新日期:2016-02-01 00:00:00
abstract::Paroxysmal kinesigenic dyskinesia (PKD) is a heterogeneous movement disorder characterized by recurrent dyskinesia attacks triggered by sudden movement. PRRT2 has been identified as the first causative gene of PKD. However, it is only responsible for approximately half of affected individuals, indicating that other lo...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddx430
更新日期:2018-02-15 00:00:00
abstract::We studied a large Danish family of seven generations in which autosomal dominant retinitis pigmentosa (adRP), a heterogeneous genetic form of retinal dystrophy, was segregating. After linkage had been excluded to all known adRP loci on chromosomes 3q, 6p, 7p, 7q, 8q, 17p, 17q and 19q, a genome screening was performed...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/5.8.1193
更新日期:1996-08-01 00:00:00
abstract::Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one or more genes required in two copies for normal testis development. Recent studies have greatly narrowed the interval conta...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/8.6.989
更新日期:1999-06-01 00:00:00
abstract::The gene encoding heterogeneous ribonucleoprotein (hnRNP) G recently has been mapped to the X chromosome. All mammals have a Y chromosome-encoded homologue of HNRNP G called RBMY, which is implicated with a role in male fertility and is a candidate for the azoospermia factor gene. We have identified a new member of th...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.14.2117
更新日期:2000-09-01 00:00:00