Abstract:
:Hirschsprung disease (HSCR) is a newborn colorectal disease characterized by an absence of ganglia in the distal gut. Hedgehog (Hh) and endothelin signaling serve important roles in gastrointestinal tract formation. Alterations in the signaling pathways disrupt the development of enteric neural crest cells (ENCCs). It is not known whether there is any coordination between these pathways in the pathogenesis of HSCR. In the present study, tissue samples from 35 patients with HSCR, including stenotic aganglionosis gut and normal ganglionic gut, were obtained. The expression of Gli family zinc finger 1 (Gli1) and endothelin receptor type B (EDNRB) was determined using reverse transcription‑quantitative polymerase chain reaction, immunohistochemistry and western blotting. In addition, the SK‑N‑SH cell line was used to investigate the association between Hh signaling and the expression of EDNRB. The results revealed aberrant expression of Gli1 in the aganglionic segments, as well as decreased expression of Gli1 in tissues from 7 patients with HSCR exhibited, whereas tissues from 9 patients with HSCR exhibited increased Gli1 expression compared with the expression in the normal tissues. There was a negative association between EDNRB expression and Gli1 expression in the same sample. Knockdown of Gli1 by small interfering RNA and inhibition of Hh signaling by Vismodegib in SK‑N‑SH cells increased EDNRB expression. By contrast, upregulation of Gli1 expression by plasmids and activation of Hh signaling by Purmorphamine decreased EDNRB expression. Furthermore, premature enteric ganglia were observed in 4 patients with HSCR with decreased Gli1 expression. Thus, the results of the present study suggest that altered Gli1 expression negatively regulates EDNRB expression in patients with HSCR. The increased expression of EDNRB induced by decreased Gli1 expression may represent a novel mechanism in HSCR.
journal_name
Mol Med Repjournal_title
Molecular medicine reportsauthors
Liu W,Pan J,Gao J,Shuai X,Tang S,Wang G,Tao K,Wu Cdoi
10.3892/mmr.2018.8612subject
Has Abstractpub_date
2018-04-01 00:00:00pages
5844-5850issue
4eissn
1791-2997issn
1791-3004journal_volume
17pub_type
杂志文章abstract::Heat stress is demonstrated to have an effect on the function of the male testis, however, limited information has been reported on its effects on sperm maturation. In the present study, a comparative proteomic analysis was performed on the rat caput epididymal fluids responsible for sperm maturation, to identify key ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.4958
更新日期:2016-04-01 00:00:00
abstract::Full‑thickness and large area defects of articular cartilage are unable to completely repair themselves and require surgical intervention, including microfracture, autologous or allogeneic osteochondral grafts, and autologous chondrocyte implantation. A large proportion of regenerative cartilage exists as fibrocartila...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.7009
更新日期:2017-09-01 00:00:00
abstract::Brain metabolism is closely associated with neuronal activity and enables the accurate synthesis and function of neurotransmitters. Although previous studies have demonstrated that chronic stress is associated with the overproduction of reactive oxygen species (ROS), which leads to oxidative stress and the disruption ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2019.9865
更新日期:2019-03-01 00:00:00
abstract::Uveal melanoma (UM) is characterized by high metastasis and poor prognosis. A more improved understanding of the metastatic mechanism in UM cells is essential for the design of molecular therapy. Grb2‑associated binder 2 (Gab2) has been reported to serve important roles in the progression of various types of human can...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.7151
更新日期:2017-10-01 00:00:00
abstract::Lower back pain (LBP) is one of the predominant factors contributing to dyskinesia and remains a serious social and economic burden worldwide. Intervertebral disc degeneration (IDD) is the leading cause of LBP; the existing IDD treatments cannot completely prevent IDD. Circular RNAs (circRNAs) are non‑coding RNAs resu...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2020.11437
更新日期:2020-10-01 00:00:00
abstract::The healing of diabetic wounds represents a formidable clinical challenge, and the molecular mechanisms involved in diabetic wound healing are far from clear. In this study, we investigated the expression of β-catenin and cyclin D1 in the epidermal stem cells (ESCs) of diabetic rats, and explored whether the reduction...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2011.435
更新日期:2011-03-01 00:00:00
abstract::Breast cancer (BC) is the most common cancer among women worldwide. However, there is insufficient research that focuses on the expression and molecular mechanisms of microRNA (miR)‑204‑5p in BC. In the current study, data were downloaded from the Cancer Genome Atlas (TCGA), the Gene Expression Omnibus (GEO) and the U...
journal_title:Molecular medicine reports
pub_type: 杂志文章,meta分析
doi:10.3892/mmr.2018.9764
更新日期:2019-02-01 00:00:00
abstract::Neutrophilic airway inflammation in chronic lung infections caused by Pseudomonas aeruginosa (PA) is associated with T helper (Th)17 responses. Suppressor of cytokine signaling 3 (SOCS3) is the major negative modulator of Th17 function through the suppression of signal transducer and activator of transcription (STAT)3...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.6630
更新日期:2017-07-01 00:00:00
abstract::Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of e...
journal_title:Molecular medicine reports
pub_type: 杂志文章,评审
doi:10.3892/mmr.2016.5209
更新日期:2016-07-01 00:00:00
abstract::Cholangiocarcinoma is an intractable carcinoma originating from the bile duct epithelium. To gain an understanding of the cell biology of cholangiocarcinoma, in vitro cell culture is valuable. However, well‑characterized cell lines are limited. In the present study, the morphology of the TK cholangiocarcinoma cell lin...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2014.1939
更新日期:2014-04-01 00:00:00
abstract::The present report aimed to evaluate the results of screen mutations of the fibrillin (FBN) 1 gene and analyze the symptoms in one Chinese patient clinically diagnosed with Marfan syndrome (MFS). Clinical data were collected and FBN1 gene sequencing was performed. Genomic DNA was extracted from the blood sample of the...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.9041
更新日期:2018-07-01 00:00:00
abstract::Colorectal cancer (CRC) remains a primary contributor to cancer‑associated mortality. The Lin28/let‑7 axis has previously been verified to participate in numerous pathophysiological processes involved in CRC. However, the potential roles and underlying mechanisms of this axis in apoptosis during CRC remain to be fully...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.8483
更新日期:2018-04-01 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::As well-known regulators of gene expression, microRNAs (miRNAs) are important not only in cell proliferation and differentiation, but also in tumorigenesis and organ development. It has been estimated that miRNAs may be responsible for regulating the expression of almost one third of the human genome. Simultaneously, ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2015.3699
更新日期:2015-08-01 00:00:00
abstract::Osteosarcoma is a malignant bone tumor which is found most commonly in adolescents and young adults. Local perfusion thermochemotherapy has long been proposed as an alternative strategy for the treatment of osteosarcoma. As a standard anticancer drug, paclitaxel plays a significant ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2012.1058
更新日期:2012-11-01 00:00:00
abstract::Numerous studies have demonstrated that microRNAs (miRNAs) are upregulated or downregulated in retinoblastoma (RB), and that this phenomenon is associated with the modulation of various malignant behaviours during RB occurrence and development. Therefore, the mechanisms that associate deregulated miRNAs with RB initia...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.9784
更新日期:2019-03-01 00:00:00
abstract::Trichohepatoenteric syndrome (THES) is a rare autosomal, recessively inherited disorder. Mutations in the tetratricopeptide repeat domain 37 (TTC37) gene and the superkiller viralicidic activity 2‑like (SKIV2L) gene have been identified to cause THES. The present study reported a case of a Chinese boy, who presented c...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.5503
更新日期:2016-09-01 00:00:00
abstract::Hypothermia is an effective neuroprotective treatment for brain injury caused by intracerebral hemorrhage (ICH). It is reported to reduce brain edema and neuronal cell death. Thrombin, a coagulation protease released from blood clots, is critical in brain edema formation following ICH. Protease activated receptor‑1 (P...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2014.3111
更新日期:2015-04-01 00:00:00
abstract::Low molecular weight heparin (LMWH) has a structure similar to heparan sulfate, which exerts anti‑inflammatory effects via inhibiting elastase (Ela) activity. Release of Ela along the glomerular capillary wall may induce glomerular injury and proteinuria. The present study aimed to investigate the influence of LMWH on...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.7697
更新日期:2017-12-01 00:00:00
abstract::An outbreak of hepatitis C virus (HCV) infections, for which the risk factor was unknown, was previously identified in North Guangdong, China. In the present study, a total of 736 local residents were surveyed regarding their lifetime risk factors for HCV infection. Serum anti‑HCV antibodies and HCV RNA were examined ...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.5737
更新日期:2016-11-01 00:00:00
abstract::Vitiligo is a polygenic autoimmune disorder characterized by loss of pigmentation due to melanocyte destruction. Hydroxychloroquine (HCQ) is an effective immunosuppressant widely used in the treatment of autoimmune disorders. As generalized vitiligo (GV) is commonly considered to be a T cell and autoantibody-induced i...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.5354
更新日期:2016-08-01 00:00:00
abstract::The aim of the present study was to develop a reliable and reproducible canine model to mimic human diffuse hepatic vein obstruction (Budd‑Chiari syndrome, BCS). A total of 24 canines were divided into an experimental (n=18) and a control (n=6) group. Under the guidance of digital subtraction angiography, a balloon ca...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2013.1868
更新日期:2014-02-01 00:00:00
abstract::Rhus javanica Linn, a traditional medicinal herb from the family Anacardiaceae, has been used in the treatment of liver diseases, cancer, parasitic infections, malaria and respiratory diseases in China, Korea and other Asian countries for centuries. In the present study, the protective effects of R. javanica ethanolic...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2015.4603
更新日期:2016-01-01 00:00:00
abstract::Abnormal paired box 9 (PAX9) expression is associated with tumorigenesis, cancer development, invasion and metastasis. The present study investigated the prognostic significance of PAX9 in esophageal squamous cell carcinoma (ESCC) and its role in predicting radiation sensitivity. A total of 52.8% (121/229) ESCC tissue...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.6626
更新日期:2017-07-01 00:00:00
abstract::MicroRNA (miR)-185, which has been reported to be abnormally expressed in some types of cancer, exerts significant effects on the proliferation, apoptosis, drug resistance and metastasis of cancer cells. The present study aimed to explore the effects and underlying molecular mechanisms of miR‑185 upregulation on the a...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.8206
更新日期:2018-02-01 00:00:00
abstract::Dysregulation of microRNAs (miRNAs) is associated with the occurrence and development of clear cell renal cell carcinoma (ccRCC) through their participation in a number of critical biological processes. Therefore, an in‑depth investigation into miRNAs and their biological roles within ccRCC may provide useful insights...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2018.8755
更新日期:2018-05-01 00:00:00
abstract::Transforming growth factor (TGF)‑β1 has a key role in the regulation of fibrosis and organ dysfunction. During the pathogenesis and progression of vital organ fibrosis, the microRNA (miR)‑29 family is irregularly downregulated and exogenous supplementation of miR‑29b has a strong anti‑fibrotic capacity. However, wheth...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2016.5062
更新日期:2016-05-01 00:00:00
abstract::Inflammation contributes to acute pulmonary embolism (APE). However, the contributions of the extracellular signal‑regulated protein kinases (ERK) and phosphoinositide 3 kinase/protein kinase B (PI3K/Akt) signaling pathways have not yet been elucidated. The aim of this study was to examine the effects of aspirin on ER...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2013.1676
更新日期:2013-11-01 00:00:00
abstract::Matrix metalloproteinases (MMPs) are critical to vascular smooth muscle cell migration in vivo. The dysregulation of MMPs is involved in the pathogenesis of abnormal arterial remodeling, aneurysm formation and atherosclerotic plaque instability. It has been confirmed that lipopolysa...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2012.1010
更新日期:2012-10-01 00:00:00
abstract::Hypoxic exposure results in the vascular dysfunction and reduction of vasomotor responses and thus disrupts or reduces blood flow in the resistance arteries. Connexin (Cx)-mediated gap junctional intercellular communication (GJIC) serves a critical role in the regulation of vasomotor tone and the synchronized contract...
journal_title:Molecular medicine reports
pub_type: 杂志文章
doi:10.3892/mmr.2017.6188
更新日期:2017-04-01 00:00:00