Abstract:
:Exploring the genetic basis for idiopathic congenital nystagmus is critical for improving our understanding of its molecular pathogenesis. In the present study, direct sequencing using gene specific primers was performed in order to identify the causative mutations in two brothers from a Chinese family who had been diagnosed with idiopathic congenital nystagmus. A comprehensive ophthalmological examination, including eye movement recordings, fundus examination, and retinal optical coherence tomography imaging was also conducted, to characterize the disease phenotype. The results revealed that the two brothers exhibited clear signs of nystagmus without any other ocular anomalies. Direct sequencing revealed a G to T transition (c.886G>T) in exon 9 of the four‑point‑one, ezrin, radixin, moesin domain‑containing 7 (FRMD7) gene, which resulted in a conservative substitution of glycine to cysteine at codon 296 (p.G296C), leading to idiopathic congenital nystagmus in the two affected brothers. c.886G>T is a novel idiopathic congenital nystagmus‑inducing mutation in the FRMD7 gene. This finding expands the spectrum of known gene mutations in idiopathic congenital nystagmus, and may be useful for faster gene diagnosis, prenatal testing, the development of potential gene therapies, and for improving the understanding of the molecular pathogenesis of idiopathic congenital nystagmus.
journal_name
Mol Med Repjournal_title
Molecular medicine reportsauthors
Xiu Y,Yao Y,Yang T,Pan M,Yang H,Fang W,Gu F,Zhao J,Zhu Ydoi
10.3892/mmr.2018.9260subject
Has Abstractpub_date
2018-09-01 00:00:00pages
2816-2822issue
3eissn
1791-2997issn
1791-3004journal_volume
18pub_type
杂志文章abstract::Transcription intermediary factor 1γ (Tif1γ), a ubiquitous nuclear protein, is a regulator of transforming growth factor‑β (TGF‑β)/Smad signaling. Tif1γ can function as an oncogene and as a tumor suppressor. In the present study, Tif1γ levels were measured in the plasma of patients with breast cancer in order to inves...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2019.10033
更新日期:2019-05-01 00:00:00
abstract::Down syndrome (DS) is the most common birth defect in children. To investigate the mechanisms of DS, the present study analyzed the bisulfite‑sequencing (seq) data GSE42144, which was downloaded from the Gene Expression Omnibus. GSE42144 included DNA methylation data of three DS samples and three control samples, and ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.5778
更新日期:2016-11-01 00:00:00
abstract::Hepatocellular carcinoma (HCC) is one of the most common malignancies worldwide. Although numerous studies have suggested the potentially oncogenic roles of wild‑type or mutant hepatitis B virus X (HBx) protein in hepatocarcinogenesis, their exact mechanism remains unclear. Increasing evidence suggests that microRNAs ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2012.1203
更新日期:2013-02-01 00:00:00
abstract::In Crohn's disease (CD), clinical symptoms correspond poorly to inflammatory disease activity. Biomarkers, which reflect the level of intestinal inflammation are considered to enable effective monitoring of disease activity. The present study evaluated the role of serum pentraxin 3 (PTX3) as a marker of disease activi...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2015.3451
更新日期:2015-07-01 00:00:00
abstract::Glucocorticoid receptor (GR) function is essential for glucocorticoid action on various effector cells. The aim of the present study was to investigate the mRNA expression profiles of GRα and GRβ in peripheral blood mononuclear cells (PBMC) and examine the association between the expression levels of the GR isoforms a...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2014.2931
更新日期:2015-03-01 00:00:00
abstract::Doxorubicin (Dox)-induced cardiotoxicity has been a well‑known phenomenon to clinicians and scientists for decades. It has been confirmed that Dox‑dependent cardiotoxicity is accompanied by cardiac cellular senescence. However, the molecular mechanisms underlying Dox cardiotoxicity remains to be fully elucidated. Long...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.8169
更新日期:2018-02-01 00:00:00
abstract::Reamed intramedullary nailing (RIN) is a surgical method of choice for treatment of diaphyseal fractures. This procedure affects the biological environment of bone tissue locally and systemically. This study investigated the influence of RIN on mesenchymal stem cells (MSCs) in patients with long bone fractures. The ax...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2020.11320
更新日期:2020-09-01 00:00:00
abstract::Mesenchymal stem cells (MSCs) have been investigated in the treatment of numerous autoimmune diseases. However, the immune properties of MSCs on the development of asthma have remained to be fully elucidated. Airway dendritic cells (DCs) have an important role in the pathogenesis of allergic asthma, and disrupting the...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2015.3706
更新日期:2015-08-01 00:00:00
abstract::To investigate the genotype-phenotype correlation in Chinese familial and sporadic hypertrophic cardiomyopathy, specific exons of the myosin binding protein-c gene (MYBPC3) were screened in six families with hypertrophic cardiomyopathy (HCM; FHCM) and in 20 patients with sporadic HCM (SHCM) from the Anhui Province reg...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2010.333
更新日期:2010-09-01 00:00:00
abstract::Kashin-Beck disease (KBD) is a degenerative osteoarticular disease of unknown etiology. The management of KBD would benefit from the identification of the biomarkers related to this disease. In this study, mass spectrometry (MS)-based proteomic profiling was used to identify potential biomarkers of the disease. One hu...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2010.327
更新日期:2010-09-01 00:00:00
abstract::The oral fluoropyrimidine S-1 has marked efficacy in treating metastatic colorectal cancer patients. In the present study, we explored the therapeutic potential of combined in vivo treatment in the human colon cancer cell lines COL-1, KM12C and KM20C with consecutive oral S-1 and leucovorin (LV) in 2-week therapeutic ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr_00000111
更新日期:2009-05-01 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 use of non‑steroidal anti‑inflammatory drugs (NSAIDs) has been associated with a reduced risk of various types of cancer, including esophageal cancer. However, the mechanisms underlying the antineoplastic effects of NSAIDs in esophageal cancer remain to be elucidated. In the present study, a significant inhibition...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2015.3331
更新日期:2015-06-01 00:00:00
abstract::Mesenchymal stromal cells (MSCs) have therapeutic potential for repairing tissue damage and are involved in immune regulation. MSCs are predominantly isolated from bone marrow (BM), adipose tissue or placental tissue. Further to these well‑known sources, the isolation of MSCs from human tonsils was previously reported...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.5604
更新日期:2016-10-01 00:00:00
abstract::Aberrant DNA methylation is the most common type of epigenetic alteration and is associated with many types of cancer. Although previous studies have provided a few novel DNA methylation markers in hepatocellular carcinoma (HCC), specific DNA methylation patterns and comparisons of the aberrant alterations in methylat...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.9441
更新日期:2018-11-01 00:00:00
abstract::Colorectal cancer (CRC) is one of the primary causes of cancer‑associated mortality worldwide. However, the potential molecular mechanism of CRC progression remains unknown. Long non‑coding RNA small nucleolar RNA host gene 20 (SNHG20) has been demonstrated to be involved in the development and progression of a variet...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2020.11669
更新日期:2021-01-01 00:00:00
abstract::Promoter hypermethylation is a marginal approach to inactivating tumor suppressor genes in cancer. DNA hypermethylation is a well-recognized epigenetic malfunction observed in several malignancies, most predominantly in prostate cancer. Aberrant DNA methylation patterns are considered to be the earliest somatic genome...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2010.348
更新日期:2010-09-01 00:00:00
abstract::High glucose (HG) in peritoneal dialysates has been demonstrated to induce extracellular matrix (ECM) synthesis by peritoneal mesothelial cells (PMCs) and to contribute to peritoneal fibrosis during continuous ambulatory peritoneal dialysis (CAPD). In the present study, we investigated the effects of pioglitazone, a p...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2013.1309
更新日期:2013-04-01 00:00:00
abstract::Human mucin 1 (MUC1) is a target for immunotherapy. The major problem associated with MUC1‑based cancer vaccines is the weakness of the immunogenicity of MUC1. The present study aimed to develop an efficient cancer vaccine through generating a recombinant fusion protein consisting of MUC1 and maltose‑binding protein (...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2014.2306
更新日期:2014-08-01 00:00:00
abstract::Long non-coding RNAs (lncRNAs) exert regulatory functions on various biological processes in cancer cells, including proliferation, apoptosis and mobility. Prostate cancer-associated transcript 1 (PCAT-1) is a novel lncRNA that promotes cell proliferation in prostate cancer, however, the effect of PCAT‑1 in hepatocell...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.5075
更新日期:2016-05-01 00:00:00
abstract::Human glioma is a pernicious tumor from the central nervous system; it has been reported that microRNAs (miRs) may have carcinogenic or tumor suppressor effects on human glioma. The aim of the present study was to assess miR‑141 expression and functional role in human primary glioma, as well as in tumor‑derived cell l...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.9108
更新日期:2018-08-01 00:00:00
abstract::Macrophage cholesterol efflux is important in maintaining cellular lipid homeostasis and preventing the formation of lipid‑laden foam cells. Although radioactive [3H]‑cholesterol is widely used as a tracer in cholesterol efflux assays, the lengthy and labor‑intensive assay procedure, and the radioactivity disposal pro...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2015.4154
更新日期:2015-10-01 00:00:00
abstract::Advances in the treatment of nasopharyngeal carcinoma (NPC) have significantly improved the local control rate; however, distant metastasis remains a principal cause of mortality. Previous studies have demonstrated that the expression levels of amyloid β precursor protein (APP) are increased in NPC. The present study ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2019.10293
更新日期:2019-07-01 00:00:00
abstract::Benign thyroid nodules are among the most common endocrine disorders. Recent advances in diagnostic imaging and pathology have significantly contributed to better risk stratification of thyroid nodules. However, current treatment options, beyond surgical approaches are limited. The following placebo-controlled study p...
journal_title:Molecular medicine reports
pub_type: 临床试验,杂志文章
doi:10.3892/mmr.2019.10453
更新日期:2019-09-01 00:00:00
abstract::We extracted cucurmosin (CUS) from the sarcocarp of Cucrubita moschata (pumpkin). Recently, a number of studies have indicated that CUS has cytotoxic properties and induces apoptosis in a number of human tumor cells. However, the detailed mechanisms are largely unknown. The aim of this study was to confirm CUS's antic...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2011.605
更新日期:2012-01-01 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::Long non‑coding RNAs (lncRNAs) affect atherosclerosis by regulating the physiological and pathological processes of endothelial cells; however, the role of lncRNA WEE2 antisense RNA 1 (WEE2‑AS1) in arteriosclerosis obliterans (ASO) is not completely understood. The present study aimed to explore the function of lncRNA...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2020.11625
更新日期:2020-12-01 00:00:00
abstract::Long non-coding RNA (lncRNA), transcripts of >200 bp in length that do not appear to exhibit any coding capacity, are important in the occurrence and development of cancer, cardiovascular and neurological diseases. However, effects of lncRNAs on photo‑aging remain to be elucidated. To explore the potential effects of ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.6532
更新日期:2017-06-01 00:00:00
abstract::The aim of the present study was to investigate Fas expression in tumor samples from patients with gastric cancer, in order to determine the involvement of the Fas signaling pathway. The protein expression levels of Fas, caspase-8, caspase‑3 and poly (adenosine diphosphate‑ribose) polymerase 1 (PARP1) were examined in...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.6037
更新日期:2017-02-01 00:00:00
abstract::Gliomas are one of the most common and most aggressive types of central nervous system tumor. Angiogenesis is an important basis for the growth of solid tumors, including gliomas, which is regulated by microRNAs (miRNAs). However, the mechanism remains unclear. Recently, it was demonstrated that miR‑24 was upregulated...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.8978
更新日期:2018-07-01 00:00:00