当前位置： SCI文献检索 > CHINESE MEDICAL JOURNAL期刊下所有文献 > A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis.

A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis.

Abstract：

BACKGROUND:Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy. According to previous researches, mutations of the RPE65 gene account for 16% of all cases of LCA. This study aimed to identify RPE65 gene mutations in Chinese patients with LCA. METHODS:We recruited 52 sporadic patients from Peking University Third Hospital in 2016 and applied Sanger sequencing to identify variants among exons responsible for the disease. The genomic DNAs from blood leukocytes of these patients were isolated, and the entire coding region of the RPE65 gene was amplified by polymerase chain reaction. We then determined the sequence of RPE65 using ABI 3100 Genetic Analyzer. RESULTS:Our study identified that only 1 out of the 52 patients with LCA carried the previously unreported homozygosis missense mutation c1174A>C (T392P) of the RPE65 gene. However, the mutation was associated with the disease phenotype and not detected in 100 normal controls. CONCLUSIONS:Though we identified a novel missense mutation in the RPE65 gene that causes LCA, our result indicates that RPE65 mutations may not play a major role in the LCA patients in China since only 1 out of the 52 patients carried mutation in the RPE65 gene.

journal_name

Chin Med J (Engl)

journal_title

Chinese medical journal

authors

Liu J,Bu J

doi

10.4103/0366-6999.218007

subject

Has Abstract

pub_date

2017-11-20 00:00:00

pages

2709-2712

issue

22

eissn

0366-6999

issn

2542-5641

pii

ChinMedJ_2017_130_22_2709_218007

journal_volume

130

pub_type

杂志文章

相关文献

CHINESE MEDICAL JOURNAL文献大全
  • Role of nitric oxide during early phase myocardial ischemic preconditioning in rats.

    abstract：BACKGROUND:To date, there have been no reports on altered nitric oxide (NO) content in ischemia/reperfusion with regard to in vivo preconditioning procedures. These studies are important for understanding the mechanisms of NO during early myocardial ischemic preconditioning. The aim of the present study was to investig...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Han HG,Wang ZW,Zhang NB,Zhu HY

    更新日期：2008-07-05 00:00:00

  • New Delhi Metallo-β-Lactamase-Mediated Carbapenem Resistance: Origin, Diagnosis, Treatment and Public Health Concern.

    abstract：OBJECTIVE:To review the origin, diagnosis, treatment and public health concern of New Delhi metallo-β-lactamase (NDM)-producing bacteria. DATA SOURCES:We searched database for studies published in English. The database of PubMed from 2007 to 2015 was used to conduct a search using the keyword term "NDM and Acinetobact...

    journal_title：Chinese medical journal

    pub_type： 杂志文章,评审

    doi：10.4103/0366-6999.160566

    authors： Wei WJ,Yang HF,Ye Y,Li JB

    更新日期：2015-07-20 00:00:00

  • Orthotopic ileal neobladder similar to original bladder.

    abstract：OBJECTIVE:To report the surgical techniques and results of an 8-year follow-up study of 42 patients with a modified orthotopic ileal neobladder restoring normal anatomical relationship. METHODS:Total cystoprostatectomy was performed extraperitoneally. A 45 - 50 cm segment of the ileal loop was isolated, detubularized,...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Huang J,Xu K,Yao Y,Guo Z,Lin T,Jiang C

    更新日期：2003-12-01 00:00:00

  • Using Ultrasonography to Evaluate the Relationship between Capsular Invasion or Extracapsular Extension and Lymph Node Metastasis in Papillary Thyroid Carcinomas.

    abstract：BACKGROUND:Previous studies have demonstrated that ultrasonography is the recommended imaging modality for preoperative staging of papillary thyroid carcinomas (PTCs). However, only a few studies have kept watch on preoperative evaluation of capsular invasion (CI) or extracapsular extension (ECE) and cervical lymph nod...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：10.4103/0366-6999.206339

    authors： Jiao WP,Zhang L

    更新日期：2017-06-05 00:00:00

  • Safety and immunogenicity of live attenuated hepatitis A virus vaccine (H2 strain) in humans.

    abstract：:A study was made in Neijiang City, Sichuan Province to observe the safety and immunogenicity of a live attenuated hepatitis A virus (HAV) vaccine (H2 strain). 3,031 children, aged 6 to 9 years, were injected subcutaneously with 10(6.0) TCID50, 10(5.5) TCID50, and 10(5.0) TCID50 of HAV vaccine; the seroconversion rate ...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Ran LA,Wang DZ,Duan QY,Yan TY,Liu QL,Luo YG,Yang DZ,Yang DF,Xiao Z,Xie QJ

    更新日期：1993-08-01 00:00:00

  • Hypothermia ameliorates gastrointestinal ischemic injury sustained in a porcine cardiac arrest model.

    abstract：BACKGROUND:During cardiac arrest, the gastrointestinal tract is sensitive to ischemia. Protection of the gastrointestinal tract is a critical factor in determining prognosis following cardiopulmonary resuscitation (CPR). This study seeks to determine the extent of gastrointestinal tract injury and the potential protect...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Lu Y,Wang S,Li CS

    更新日期：2012-12-01 00:00:00

  • Soft tissue release on the concave side in the treatment of scoliosis. A preliminary report of 23 cases.

    abstract：:Since February 1982, 23 patients with scoliosis were treated by releasing the soft tissues on the concave side and plaster spinal fusion jacket. Of these patients, 13 had congenital scoliosis and 10 idiopathic scoliosis. Follow-up for 1 to 8.5 years showed that the results of correction were satisfactory. The maximum ...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Dong L

    更新日期：1992-02-01 00:00:00

  • Effects of ketamine-midazolam anesthesia on the expression of NMDA and AMPA receptor subunit in the peri-infarction of rat brain.

    abstract：BACKGROUND:Activation of N-methyl-D-aspartate (NMDA) receptors and alpha-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) receptors play an important role in the neurons death induced by ischemia. The mitigating effect of intravenous anesthetics on ischemic neuron injury is related to their influence on NMDA ...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Zhang YL,Zhang PB,Qiu SD,Liu Y,Tian YF,Wang Y

    更新日期：2006-09-20 00:00:00

  • Blockade of the OX40/OX40L pathway and induction of PD-L1 synergistically protects mouse islet allografts from rejection.

    abstract：BACKGROUND:OX40/OX40 ligand (OX40/OX40L) and programmed death-1/programmed death ligand-1 (PD-1/PD-L1) costimulatory signals play important roles in T cell-induced immune responses. The aim of this study was to investigate the roles of OX40/OX40L and PD-1/PD-L1 costimulatory pathways in mouse islet allograft rejection....

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Li T,Ma R,Zhu J,Wang F,Huang L,Leng X

    更新日期：2014-01-01 00:00:00

  • Cutaneous Rosai-Dorfman disease presenting as a granulomatous rosacea-like rashs.

    abstract：:A case of cutaneous Rosai-Dorfman disease (CRDD) presenting as a granulomatous rosacea-like rashs was reported. A 45-year-old Chinese woman presented with a 1-month history of a widespread nonpruiginous papulonodular eruption. The rash had begun on her face and rapidly progressed to involve the neck and extremities. S...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Shi XY,Ma DL,Fang K

    更新日期：2011-03-01 00:00:00

  • Prostasin gene polymorphism at rs12597511 is associated with severe preeclampsia in Chinese Han women.

    abstract：BACKGROUND:Preeclampsia, characterized by hypertension and proteinuria, is a multifactorial disease associated with shallow invasion of trophoblast cells and inadequate spiral artery remodeling. Trophoblast and tumor cells have similar invasion mechanism. Prostasin is closely related to tumor development, invasion and ...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Luo D,Zhang Y,Bai Y,Liu X,Gong Y,Zhou B,Zhang L,Luo L,Zhou R

    更新日期：2014-01-01 00:00:00

  • Common variants in PERK, JNK, BIP and XBP1 genes are associated with the risk of prediabetes or diabetes-related phenotypes in a Chinese population.

    abstract：BACKGROUND:Prediabetes is an early stage of β-cell dysfunction presenting as insulin resistance. Evidences suggest that endoplasmic reticulum (ER) stress is involved in the pathogenesis of type 2 diabetes mellitus and prediabetes. In a Chinese population with prediabetes, we investigated single nucleotide polymorphisms...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Feng N,Ma X,Wei X,Zhang J,Dong A,Jin M,Zhang H,Guo X

    更新日期：2014-01-01 00:00:00

  • Intermittent Oxygen Inhalation with Proper Frequency Improves Overall Health Conditions and Alleviates Symptoms in a Population at High Risk of Chronic Mountain Sickness with Severe Symptoms.

    abstract：BACKGROUND:Oxygen inhalation therapy is essential for the treatment of patients with chronic mountain sickness (CMS), but the efficacy of oxygen inhalation for populations at high risk of CMS remains unknown. This research investigated whether oxygen inhalation therapy benefits populations at high risk of CMS. METHODS...

    journal_title：Chinese medical journal

    pub_type： 杂志文章,随机对照试验

    doi：10.4103/0366-6999.182831

    authors： Feng B,Xu WH,Gao YQ,Liu FY,Li P,Zheng SJ,Gai LY,Zhang G

    更新日期：2016-06-05 00:00:00

  • Assessment of cardiac function and synchronicity in subjects with isolated bundle branch block using Doppler imaging.

    abstract：BACKGROUND:Using tissue Doppler imaging and conventional echocardiographic technique, we examined the cardiac function and synchronicity in individuals with isolated right bundle branch block (RBBB) or left bundle branch block (LBBB) and assessed the relationship between QRS duration and synchronicity. METHODS:Subject...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Niu HX,Hua W,Zhang S,Sun X,Wang FZ,Chen KP,Wang H,Chen X

    更新日期：2006-05-20 00:00:00

  • Induction of apoptosis by homoharringtonine in G1 phase human chronic myeloid leukemic cells.

    abstract：BACKGROUND:Homoharringtonine (HHT) is a cephalotaxine ester derived from an evergreen tree found wildely throughout southern China, which has antileukemic activities against a variety of acute myeloid leukemic cells. For the sake of illustrating the mechanisms of HHT in the treatment of leukemia, we assessed the effect...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Mai WY,Lin MF

    更新日期：2005-03-20 00:00:00

  • Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment.

    abstract：BACKGROUND:There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI). Traditional linkage analysis and candidate gene sequen...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：10.4103/0366-6999.171440

    authors： Wang HY,Zhao YL,Liu Q,Yuan H,Gao Y,Lan L,Yu L,Wang DY,Guan J,Wang QJ

    更新日期：2015-12-20 00:00:00

  • Prevalence of depression in coronary heart disease in China: a systematic review and meta-analysis.

    abstract：BACKGROUND:Coronary heart diseases (CHD) have been identified as one of topmost diseases affecting the Chinese population. However, depression in CHD has not been reported and there are limited high quality empirical studies in China focused on the prevalence of the comorbidity. This study aimed to estimate the pooled ...

    journal_title：Chinese medical journal

    pub_type： 杂志文章,meta分析,评审

    doi：

    authors： Ren Y,Yang H,Browning C,Thomas S,Liu M

    更新日期：2014-01-01 00:00:00

  • Apparent protective effect of high density lipoprotein against coronary heart disease in the elderly.

    abstract：BACKGROUND:This study was designed to evaluate the relationship between high-density lipoprotein cholesterol (HDL-C) level and acute myocardial infarction (AMI) and coronary heart disease (CHD) death and to explore the protective effect of HDL against CHD in the elderly Chinese. METHODS:Started from 1986, 1211 retiree...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Li JZ,Chen ML,Wang S,Dong J,Zeng P,Hou LW

    更新日期：2004-04-01 00:00:00

  • Quantitative differentiation of dendritic cells in lung tissues of smokers with and without chronic obstructive pulmonary disease.

    abstract：BACKGROUND:Chronic obstructive pulmonary disease (COPD) is thought to be an inflammatory immune response disease. In most cases, the disease is caused by cigarette smoke, but it has been demonstrated that only 10% to 20% of smokers will definitely suffer from COPD. Dendritic cells (DCs) are considered to be the promote...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Su YW,Xu YJ,Liu XS

    更新日期：2010-06-01 00:00:00

  • Analysis of factors associated with disease outcomes in hospitalized patients with 2019 novel coronavirus disease.

    abstract：BACKGROUND:Since early December 2019, the 2019 novel coronavirus disease (COVID-19) has caused pneumonia epidemic in Wuhan, Hubei province of China. This study aimed to investigate the factors affecting the progression of pneumonia in COVID-19 patients. Associated results will be used to evaluate the prognosis and to f...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：10.1097/CM9.0000000000000775

    authors： Liu W,Tao ZW,Wang L,Yuan ML,Liu K,Zhou L,Wei S,Deng Y,Liu J,Liu HG,Yang M,Hu Y

    更新日期：2020-05-05 00:00:00

  • Altered angiotensin-converting enzyme and its effects on the brain in a rat model of Alzheimer disease.

    abstract：BACKGROUND:Alzheimer disease (AD) is a neurodegenerative disease related to aging. At present, its pathological mechanisms remain unclear. Family members of the renin-angiotensin system (RAS) play a role in neuronal plasticity, as well as formation of learning and memory. In this study, we explore the effects of altere...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Hou DR,Wang Y,Zhou L,Chen K,Tian Y,Song Z,Bao J,Yang QD

    更新日期：2008-11-20 00:00:00

  • Somatosensory evoked potentials in patients with cerebral hemorrhage and infarct. Correlation with CT, clinical data and their prognostic significance on limb function.

    abstract：:Somatosensory evoked potentials (SEP) arising from median nerve stimulation were recorded in 102 patients with unilateral cerebral hemorrhage or infarct located in basal ganglion, internal capsule, thalamus or cerebral lobe. Of them 42 cases were followed up and reexamined with SEPs. Three types of SEPs were observed:...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Lu ZN,Yu SZ

    更新日期：1993-01-01 00:00:00

  • Mechanisms of multiple organ damages in acute necrotizing pancreatitis.

    abstract：OBJECTIVE:To determine the role of systemic inflammatory response syndrome (SIRS) and multiple organ dysfunction syndrome (MODS), and evaluate the progress from SIRS to MODS and the therapeutic strategies for acute necrotizing pancreatitis (ANP). METHODS:Rat ANP models were made by retrograde injection of 3.5% sodium ...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Zhang Q,Ni Q,Cai D,Zhang Y,Zhang N,Hou L

    更新日期：2001-07-01 00:00:00

  • Apolipoprotein (a) phenotypes in cardio-cerebrovascular diseases.

    abstract：:Apolipoprotein (a) [Lp(a)] phenotypes of 69 myocardial infarction survivor and 56 stroke patients were reported and compared to those of 190 healthy Chinese. The results revealed that the distributions of apo(a) phenotype frequency in patients with cardio-cerebrovascular disease (CCVD) were different from those of con...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Zhuang YY,Li JJ,Wang JJ

    更新日期：1994-02-01 00:00:00

  • Surgical Outcomes of Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery in Children: An Echocardiography Follow-up.

    abstract：BACKGROUND:Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare but potentially life-threatening congenital heart defect. A retrospective analysis was carried out to elucidate the surgical outcomes of ALCAPA in infants and children using follow-up echocardiography. METHODS:From Sep...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：10.4103/0366-6999.215334

    authors： Gao Y,Zhang J,Huang GY,Liang XC,Jia B,Ma XJ

    更新日期：2017-10-05 00:00:00

  • A multi-center, double-blind, randomized, parallel group study to evaluate the effects of two different doses of losartan on morbidity and mortality in Chinese patients with symptomatic heart failure intolerant of angiotensin converting enzyme inhibitor t

    abstract：BACKGROUND:There have been no mortality/morbidity endpoint studies with losartan in Chinese heart failure patients. The objective was to evaluate the effects of high-dose vs. low-dose losartan on clinical outcomes in Chinese subjects with heart failure. METHODS:This study was a post hoc analysis of the Heart failure E...

    journal_title：Chinese medical journal

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：

    authors： Hu DY,Huang J,Cai NS,Zhu WL,Li YS,Massaad R,Hanson ME,Dickstein K

    更新日期：2012-11-01 00:00:00

  • Oxygen administration in the care of neonates: a double-edged sword.

    abstract：OBJECTIVE:To evaluate the use of oxygen in neonates in the past, present and future. DATA SOURCES:The data are mainly from Pubmed with relevant published articles from the 1940s to the present with some information gathered from web searches. STUDY SELECTION:Studies evaluating the use of oxygen in premature and term ...

    journal_title：Chinese medical journal

    pub_type： 杂志文章,评审

    doi：

    authors： Dennery PA

    更新日期：2010-10-01 00:00:00

  • Biomedical material for sutureless esophagogastrostomy. Analysis of 31 cases.

    abstract：:The results of 31 cases of sutureless esophagogastrostomy by intraluminal elastic circular ligation (IECL) with the biodegradable supporting tube were reported. The fate of the supporting tube could be tracked satisfactorily by X-ray. The tube-dislodge time was 15.03 +/- 2.23 days and unaffected by the size of support...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Chen L,Zhang Y,Du X,Wang Q,Zhang Z

    更新日期：1995-10-01 00:00:00

  • Iron chelator daphnetin against Pneumocystis carinii in vitro.

    abstract：BACKGROUND:Although there are several drugs and drug combinations for the treatment of Pneumocystis carinii (P. carinii) pneumonia, all drugs have the toxicity as well as low efficacy. Iron chelators have been proposed as a source of new drugs for combating these infections. We hypothesized that iron chelators would su...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Ye B,Zheng YQ,Wu WH,Zhang J

    更新日期：2004-11-01 00:00:00

  • Antileukemic effect of low-dose harringtonine.

    abstract：:The effect of harringtonine (HA) in various concentrations on HL-60 was evaluated. 0.10 microgram/ml HA showed a strong cell killing effect, and 0.025 microgram/ml HA a weak differentiation induction accompanied by cell growth retardation. Differentiation induction did not occur in 5 other human leukemic cell lines. W...

    journal_title：Chinese medical journal

    pub_type： 杂志文章

    doi：

    authors： Chen SS,Wang P,Fu JY,Chen LL,Zhao FS,Shan FX

    更新日期：1989-06-01 00:00:00