Abstract:
:The present study aimed to identify the mutation causing an atypical syndrome. High-resolution single nucleotide polymorphism (SNP) arrays are considered to be a major detection method for submicroscopic chromosomal rearrangements smaller than 5 Mb in size. Genomic DNA samples of the patient and his parents were converted to a final concentration of 50 ng/ml. The Illumina BeadScan genotyping system and the HumanOmni1‑Quad Chip were employed to obtain the signal intensities of SNP probes. The patient presented with congenital heart disease, autism, mental retardation, growth retardation, hypercalcemia, nephroliths and cleft palate. The karyotypes of the patient and his parents were normal. The present study employed high‑resolution SNP arrays to analyze the whole genome for copy number variations (CNVs). A total of 309 CNVs were discovered. A de novo 1.5 Mb gain of chromosome 7q11.23 (Chr7: 72,357,322‑73,856,472) was identified following exclusion of CNVs presented in the Database of Genomic Variants. In conclusion, to the best of our knowledge, the current study describes the first case of a patient presenting with Williams‑Beuren syndrome alongside supravalvular aortic stenosis, autism and cleft palate, and identifies an atypical deletion at 7q11.23.
journal_name
Mol Med Repjournal_title
Molecular medicine reportsauthors
Hu S,Yang Y,Liu L,Tan Z,Zhao Tdoi
10.3892/mmr.2017.6279subject
Has Abstractpub_date
2017-05-01 00:00:00pages
2709-2712issue
5eissn
1791-2997issn
1791-3004journal_volume
15pub_type
杂志文章abstract::Leukemia inhibitory factor (LIF) modulates various biological processes. Although previous studies have described the effects of LIF on adipocyte differentiation, the role of LIF receptor (LIFR) on adipocyte differentiation remains unclear. Using reverse transcription‑quantitative PCR (RT‑qPCR), LIFR expression was de...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2019.10140
更新日期:2019-06-01 00:00:00
abstract::Hepatocellular carcinoma (HCC) is one of the most common cancer types worldwide. The signal transducer and activator of transcription 3 (STAT3) protein is a member of the STAT transcription factor family. Oncogenesis, invasion, and metastasis of HCC are associated with activation of STAT3. However, whether aberrant ex...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2014.2510
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abstract::Cheonggukjang (CKJ), a fermented soybean product, has been reported to have beneficial effects on various chronic diseases, including cardiovascular disease, cancer and immune diseases. To investigate whether CKJ induces growth sensitivity in mammals, alterations of key parameters related to their growth were analyzed...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2013.1757
更新日期:2014-01-01 00:00:00
abstract::The present study aimed to investigate the effects of electrical stimulation (ES) on cell activity, cell cycle and apoptosis in injured rat dorsal root ganglion (DRG) cells induced by cyclic mechanical stretching (CMS). The present study also investigated whether the Wnt/β‑catenin pathway is involved in this process. ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2020.11058
更新日期:2020-06-01 00:00:00
abstract::Galectin-3 is an important mediator of cardiac fibrosis and heart failure. Cell viability of cardiomyocytes was measured using a CCK‑8 assay; flow cytometry was employed for the detection of the cell cycle and cardiomyocytes apoptosis. Reverse transcription‑quantitative polymerase chain reaction and western blotting w...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.8323
更新日期:2018-03-01 00:00:00
abstract::The aim of the present study was to determine the role of interleukin-6 (IL-6) in the epithelial-mesenchymal transition (EMT) of human intrahepatic biliary epithelial cell (HIBEC) lines in vitro. HIBECs were stimulated with IL-6 at concentrations of 0, 10, 20, 50 and 100 µg/l for 24 h. A wound healing and Transwell as...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2015.4706
更新日期:2016-02-01 00:00:00
abstract::Portal hypertension (PHT) is one of the most severe consequences of liver cirrhosis. Carvedilol is a first‑line pharmacological treatment of PHT. However, the antifibrogenic effects of carvedilol on liver cirrhosis and the intrinsic mechanisms underlying these effects have not been thoroughly investigated. The present...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2019.10401
更新日期:2019-08-01 00:00:00
abstract::The present study aimed to investigate the effect of Dickkopf-related protein 3 (DKK3) on osteogenic differentiation of rat dental follicle cells (DFCs). A PCR array analysis of Wnt pathway activation in DFCs identified genes dysregulated by mineral induction. Among them, DKK3expression levels were decreased, and furt...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.6165
更新日期:2017-04-01 00:00:00
abstract::Cadmium (Cd) is a heavy metal that can accumulate and cause damage to a variety of tissues and organs. The kidney is the primary target organ for Cd accumulation and toxic damage. Autophagy, which is a critical intracellular process, serves an important role in maintaining the homeostasis of the intracellular environm...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2020.11301
更新日期:2020-09-01 00:00:00
abstract::Parkinson's disease (PD) is a type of movement disorder caused by loss of dopamine‑producing neurons in the midbrain. In order to identify the synergistic microRNA (miRNA) pattern in PD, miRNA and mRNA double expression profiles of PD were downloaded. Differentially expressed miRNA and mRNA were identified [P<0.01, fo...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2014.2837
更新日期:2015-02-01 00:00:00
abstract::Moscatilin is a bibenzyl derivative extracted from the Dendrobium aurantiacum var. denneanum, which has traditionally been used as an immunomodulatory treatment in China. The present study was designed to determine whether moscatilin is a pro‑apoptotic agent in pancreatic cancer, and to elucidate the underlying mechan...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.6144
更新日期:2017-03-01 00:00:00
abstract::Insulin resistance is associated with a poor prognosis in non‑alcoholic fatty liver disease (NAFLD) patients. Isomaltulose, a naturally‑occurring disaccharide, is reported to improve glucose and lipid metabolisms in obese patients. The present study aimed to investigate the effects of isomaltulose on insulin resistanc...
journal_title:Molecular medicine reports
pub_type: 杂志文章,随机对照试验
doi:10.3892/mmr.2018.9223
更新日期:2018-08-01 00:00:00
abstract::The anthrax lethal factor (LF) is a zinc dependent metalloproteinase that cleaves the majority of mitogen-activated protein kinase kinases and a member of NOD-like receptor proteins, inducing cell apoptosis. Despite efforts to fully understand the Bacillus anthracis toxin components, the gastrointestinal (GI) anthrax ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.5031
更新日期:2016-05-01 00:00:00
abstract::Hepatitis B virus X protein (HBx) has been previously demonstrated to be associated with the regulation of cell proliferation; however, the exact mechanisms underlying this effect remain unclear. The present study aimed to investigate the regulatory mechanism of HBx on the cycle progression of primary renal tubular ep...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.9197
更新日期:2018-08-01 00:00:00
abstract::Dbl-family guanine nucleotide exchange factors (GEFs) are important activators of Rho GTPases, which are significantly associated with tumorigenesis and metastasis. The catalytic ability of the Dbl-family GEFs to activate Rho GTPases depends on their Dbl-homology domain followed by a pleckstrin-homology domain. In the...
journal_title:Molecular medicine reports
pub_type: 临床试验,杂志文章
doi:10.3892/mmr.2012.783
更新日期:2012-05-01 00:00:00
abstract::The aim of the present study was to identify key genes and signaling pathways associated with the pathogenesis of juvenile spondyloarthritis (JSA). The gene expression profile dataset GSE58667, including data from 15 human whole blood samples collected from 11 patients with JSA and four healthy controls, was analyzed ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.9136
更新日期:2018-08-01 00:00:00
abstract::The present study aimed to investigate the expression of the Hedgehog (Hh) signaling pathway between microsatellite-unstable (MSI) and microsatellite-unstable (MSS) colorectal cancers (CRCs). A total of 61 samples of CRC tissue and corresponding blood samples were obtained from the surgical department of our hospital....
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2011.529
更新日期:2011-09-01 00:00:00
abstract::Trienones are curcuminoid analogues and are minor constituents in the rhizomes of numerous Curcuma plant species. Studies investigating the biological activities of trienones, particularly their anti‑inflammatory activities, are limited. In the present study, the trienone 1,7‑bis(4‑hydroxy‑3‑methoxyphenyl)‑1,4,6‑hepta...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2021.11848
更新日期:2021-03-01 00:00:00
abstract::The von Hippel‑Lindau (VHL) gene is a tumor suppressor gene, which is widely expressed in the kidney, lung, breast, eye, ovary and cervix. Mutations of the VHL gene are able to induce VHL disease and tumorigenesis. However, it has yet to be evaluated whether the VHL gene is expressed in the human endometrium. The obje...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2014.1962
更新日期:2014-04-01 00:00:00
abstract::The present study hypothesized that caffeic acid (3,4‑dihydroxycinnamic acid; CaA) may exert antidepressant‑like effects in rats with chronic unpredictable mild stress via epigenetic mechanisms, such as DNA methylation and hydroxymethylation. The chronic unpredictable mild stress (CUMS) model was used to analyze the e...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2020.11609
更新日期:2020-12-01 00:00:00
abstract::Tumor necrosis factor‑related apoptosis-inducing ligand (TRAIL) is well known as a transmembrane cytokine and has been proposed as one of the most effective anti‑cancer therapeutic agents, owing to its efficiency to selectively induce cell death in a variety of tumor cells. Suppression of autophagy flux has been incre...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.9757
更新日期:2019-02-01 00:00:00
abstract::Autogenous microfat grafting is widely used to augment depressed deformities or for other cosmetic purposes. Since the microfat survival rate is unpredictable due to absorption and calcification, previously cryopreserved fat is widely used for secondary procedures. Sphingosylphosphorylcholine (SPC) is a lysophospholip...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.5677
更新日期:2016-10-01 00:00:00
abstract::The clinical significance of microRNA (miR)‑136‑5p in hepatocellular carcinoma (HCC) has not been verified. Therefore, in the current study, the authors aimed to explore miR‑136‑5p expression and its clinical significance in HCC, as well as to investigate its potential target genes function. The authors detected the l...
journal_title:Molecular medicine reports
pub_type: 杂志文章,meta分析
doi:10.3892/mmr.2017.7275
更新日期:2017-10-01 00:00:00
abstract::Adipocytes have been demonstrated to promote the progression of various tumors through modulation of cancer cell metabolism. However, their role in lung cancer progression remains undetermined. In the present study, adipocytes and lung adenocarcinoma A549 cells were cultured in a Transwell co‑culture system. Cancer ce...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.9226
更新日期:2018-08-01 00:00:00
abstract::Hypertension affects one billion people worldwide and is an independent risk factor for death after acute coronary syndrome (ACS). The aim of this study was to examine the prevalence and medical treatment of hypertension among 1,301 ACS patients enrolled into the Chinese registry of acute coronary events (CRACE) trial...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2013.1461
更新日期:2013-07-01 00:00:00
abstract::Aquaporins (AQPs) are known to be important in cancer progression. The present study used a cDNA microarray to demonstrate that AQP3, a member of the AQP family, was overexpressed in prostate cancer cells. In order to determine the role of AQP3 in prostate cancer, AQP3 expression was silenced by transfection with smal...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2014.3097
更新日期:2015-04-01 00:00:00
abstract::Human glucose-6-phosphate dehydrogenase (G6PD) is a crucial enzyme in the pentose phosphate pathway, and serves an important role in biosynthesis and the redox balance. G6PD deficiency is a major cause of neonatal jaundice and acute hemolyticanemia, and recently, G6PD has been associated with diseases including inflam...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.6785
更新日期:2017-08-01 00:00:00
abstract::Previous genome-wide association studies have demonstrated that single nucleotide polymorphisms in T‑box (TBX)5 are associated with increased susceptibility to atrial fibrillation (AF), and a recent study has causally linked a TBX5 mutation to atypical Holt-Oram syndrome and paroxysmal AF. However, the prevalence and ...
journal_title:Molecular medicine reports
pub_type: 临床试验,杂志文章,多中心研究
doi:10.3892/mmr.2016.5043
更新日期:2016-05-01 00:00:00
abstract::Intracranial aneurysm (IA) is a devastating disease, the pathogenesis of which remains to be elucidated. The present study aimed to determine the molecular mechanism of IA and to identify potential therapeutic targets using bioinformatics analysis. The GSE54083 dataset, which includes data from patients with ruptured ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.7940
更新日期:2018-01-01 00:00:00
abstract::The primary aim of the present study was to examine the effects of microRNA‑21 (miR‑21) on the proliferation and differentiation of rat primary neural stem cells (NSCs) in vitro. miR‑21 was overexpressed in NSCs by transfection with a miR‑21 mimic. The effects of miR‑21 overexpression on NSC proliferation were reveale...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.7856
更新日期:2018-01-01 00:00:00