当前位置： SCI文献检索 > Biomed Research International期刊下所有文献 > Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.

Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.

Abstract：

:Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997) are mainly responsible for this disease. In this research, we enrolled two BHD families and applied direct sequencing of FLCN to explore the genetic lesions in them. Two FLCN mutations were identified: one is a novel deletion variant (c.668delA/p.N223TfsX19), while the other is a previously reported insertion mutation (c.1579_1580insA/p.R527QfsX75). And the pathogenicity of both variants was confirmed by cosegregation assay. Bioinformatics analysis showed that c.668delA may lead to functional haploinsufficiency of FLCN because mRNA carrying this mutation exhibits a faster degradation rate comparing to the wild type. Real-time qPCR also confirmed that the mRNA level of FLCN expression in the proband was decreased significantly compared with the controls, which may disrupt the mTOR pathway and lead to BHD. The insertion mutation (c.1579_1580insA) was predicted to cause a prolonged amino acid sequence of FLCN. The present identification of two mutations not only further supports the important role of tumor suppressor FLCN in BHD and primary spontaneous pneumothorax, but also expands the spectrum of FLCN mutations and will provide insight into genetic diagnosis and counseling of families with BHD.

journal_name

Biomed Res Int

journal_title

BioMed research international

authors

Liu L,Yang K,Wang X,Shi Z,Yang Y,Yuan Y,Guo T,Xiao X,Luo H

doi

10.1155/2017/8751384

subject

Has Abstract

pub_date

2017-01-01 00:00:00

pages

8751384

eissn

2314-6133

issn

2314-6141

journal_volume

2017

pub_type

杂志文章

相关文献

Biomed Research International文献大全
  • Speed of Retinal Vascularization in Retinopathy of Prematurity: Risk and Protective Factors.

    abstract：Objective:The objective was to study the risk and protective factors involved in retinal vascular development of preterm infants with retinopathy of prematurity. Methods:Between 2000 and 2017, 185 preterm infants were included in the protocol for retinopathy of prematurity. Risk factors associated with speed of retina...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2019/2721578

    authors： Solans Pérez de Larraya AM,Ortega Molina JM,Uberos Fernández J,González Ramírez AR,García Serrano JL

    更新日期：2019-04-24 00:00:00

  • Metabolic Comorbidities and Risk of Development and Severity of Drug-Induced Liver Injury.

    abstract：:The incidence and rates of diagnosis of drug-induced liver injury (DILI) have been increasing in recent years as findings from basic research and the examination of clinical databases reveal information about the clinical course, etiology, and prognosis of this complex disease. The prevalence of metabolic comorbiditie...

    journal_title：BioMed research international

    pub_type： 杂志文章,评审

    doi：10.1155/2019/8764093

    authors： Li X,Gao P,Niu J

    更新日期：2019-08-18 00:00:00

  • Electrophysiological and Behavioral Responses of Theocolax elegans (Westwood) (Hymenoptera: Pteromalidae) to Cereal Grain Volatiles.

    abstract：:Volatiles emitted by the host's food would be the first signals used by parasitoids in the host location process and are thought to play an important role in host habitat location. In this study, the olfactory responses of Theocolax elegans (Westwood), a Pteromalid wasp that parasitizes immature stages of stored-produ...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2016/5460819

    authors： Germinara GS,De Cristofaro A,Rotundo G

    更新日期：2016-01-01 00:00:00

  • Neural Plastic Changes in the Subcortical Auditory Neural Pathway after Single-Sided Deafness in Adult Mice: A MEMRI Study.

    abstract：:Single-sided deafness (SSD) induces cortical neural plastic changes according to duration of deafness. However, it is still unclear how the auditory cortical changes accompany the subcortical neural changes. The present study aimed to find the neural plastic changes in the cortical and subcortical auditory system foll...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2018/8624745

    authors： Kim SY,Heo H,Kim DH,Kim HJ,Oh SH

    更新日期：2018-11-26 00:00:00

  • Based on Network Pharmacology to Explore the Molecular Targets and Mechanisms of Gegen Qinlian Decoction for the Treatment of Ulcerative Colitis.

    abstract：Background:Gegen Qinlian (GGQL) decoction is a common Chinese herbal compound for the treatment of ulcerative colitis (UC). In this study, we aimed to identify its molecular target and the mechanism involved in UC treatment by network pharmacology and molecular docking. Material and Methods. The active ingredients of P...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2020/5217405

    authors： Wei M,Li H,Li Q,Qiao Y,Ma Q,Xie R,Wang R,Liu Y,Wei C,Li B,Zheng C,Sun B,Yu B

    更新日期：2020-11-24 00:00:00

  • Can Limited Education of Lung Ultrasound Be Conducted to Medical Students Properly? A Pilot Study.

    abstract：:Objectives. Lung ultrasonography (LUS) is a useful examination to identify lung problems. Unfortunately, there are currently no LUS educational programs for medical students. We designed a brief LUS training course for medical students during the ED rotation. The purpose of training was improving cognitive and psychom...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2017/8147075

    authors： Lim JS,Lee S,Do HH,Oh KH

    更新日期：2017-01-01 00:00:00

  • Potential Anticancer Mechanisms of a Novel EGFR/DNA-Targeting Combi-Molecule (JDF12) against DU145 Prostate Cancer Cells: An iTRAQ-Based Proteomic Analysis.

    abstract：:The development of multitargeting drugs is an emerging trend in cancer research. To promote further development and clinical application of multitargeting drugs, this research was performed. MTT assay and flow cytometry of Annexin V/propidium iodide staining were used to confirm the proapoptotic efficacy of a novel co...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2017/8050313

    authors： Zheng H,Liang G,Chen Y,Lin S,Liu W,Fang Y

    更新日期：2017-01-01 00:00:00

  • The increase of intra-abdominal pressure can affect intraocular pressure.

    abstract：OBJECTIVE:This study aims to explore the usage of intraocular pressure measurements as the early indicator of the increase in intra-abdominal pressure. METHODS:In this prospective study, 40 patients undergoing elective surgery were included. Patients were divided into four groups of 10 patients. The control group (Gro...

    journal_title：BioMed research international

    pub_type： 临床试验,杂志文章

    doi：10.1155/2015/986895

    authors： Ece I,Vatansev C,Kucukkartallar T,Tekin A,Kartal A,Okka M

    更新日期：2015-01-01 00:00:00

  • Autologous bone marrow mesenchymal stem cells associated with tantalum rod implantation and vascularized iliac grafting for the treatment of end-stage osteonecrosis of the femoral head.

    abstract：:Tantalum rod implantation with vascularized iliac grafting has been reported to be an effective method for the treatment of young patients with osteonecrosis of the femoral head (ONFH) to avert the need for total hip arthroplasty (THA). However, there have been unsatisfactory success rates for end-stage ONFH. The auth...

    journal_title：BioMed research international

    pub_type： 杂志文章,随机对照试验

    doi：10.1155/2015/240506

    authors： Zhao D,Liu B,Wang B,Yang L,Xie H,Huang S,Zhang Y,Wei X

    更新日期：2015-01-01 00:00:00

  • CYLD Deubiquitinase Negatively Regulates High Glucose-Induced NF-κB Inflammatory Signaling in Mesangial Cells.

    abstract：:Nuclear factor-kappa B (NF-κB) is the key part of multiple signal transduction of inflammation in the pathogenesis of diabetic nephropathy (DN). The ubiquitin-proteasome system is extensively involved in the regulation of the NF-κB pathway. Cylindromatosis (CYLD) has deubiquitinase activity and acts as a negative regu...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2017/3982906

    authors： Li Y,Huang W,Xu Y,Zhou L,Liang Y,Gao C,Long Y,Xu Y

    更新日期：2017-01-01 00:00:00

  • Pyrosequencing reveals fungal communities in the rhizosphere of Xinjiang Jujube.

    abstract：:Fungi are important soil components as both decomposers and plant symbionts and play a major role in ecological and biogeochemical processes. However, little is known about the richness and structure of fungal communities. DNA sequencing technologies allow for the direct estimation of microbial community diversity, av...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2015/972481

    authors： Liu P,Wang XH,Li JG,Qin W,Xiao CZ,Zhao X,Jiang HX,Sui JK,Sa RB,Wang WY,Liu XL

    更新日期：2015-01-01 00:00:00

  • Exploring and Promoting Prosocial Vaccination: A Cross-Cultural Experiment on Vaccination of Health Care Personnel.

    abstract：:Influenza vaccination for health care personnel (HCP) is recommended particularly because it indirectly protects patients from contracting the disease. Vaccinating can therefore be interpreted as a prosocial act. However, HCP vaccination rates are often far too low to prevent nosocomial infections. Effective intervent...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2016/6870984

    authors： Böhm R,Betsch C,Korn L,Holtmann C

    更新日期：2016-01-01 00:00:00

  • Platelet rich plasma and knee surgery.

    abstract：:In orthopaedic surgery and sports medicine, the knee joint has traditionally been considered the workhorse. The reconstruction of every damaged element in this joint is crucial in achieving the surgeon's goal to restore the knee function and prevent degeneration towards osteoarthritis. In the last fifteen years, the f...

    journal_title：BioMed research international

    pub_type： 杂志文章,评审

    doi：10.1155/2014/890630

    authors： Sánchez M,Delgado D,Sánchez P,Fiz N,Azofra J,Orive G,Anitua E,Padilla S

    更新日期：2014-01-01 00:00:00

  • Demineralized Bone Matrix Add-On for Acceleration of Bone Healing in Atypical Subtrochanteric Femoral Fracture: A Consecutive Case-Control Study.

    abstract：BACKGROUND:Delayed union and nonunion are common complications in atypical femoral fractures (AFFs) despite having good fracture fixation. Demineralized bone matrix (DBM) is a successfully proven method for enhancing fracture healing of the long bone fracture and nonunion and should be used in AFFs. This study aimed to...

    journal_title：BioMed research international

    pub_type： 临床试验,杂志文章

    doi：10.1155/2016/4061539

    authors： Kulachote N,Sa-ngasoongsong P,Sirisreetreerux N,Chanplakorn P,Fuangfa P,Suphachatwong C,Wajanavisit W

    更新日期：2016-01-01 00:00:00

  • Analysis of Synonymous Codon Usage Bias in Flaviviridae Virus.

    abstract：Background:Flaviviridae viruses are single-stranded, positive-sense RNA viruses, which threat human constantly mediated by mosquitoes, ticks, and sandflies. Considering the recent increase in the prevalence of the family virus and its risk potential, we investigated the codon usage pattern to understand its evolutionar...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2019/5857285

    authors： Yao H,Chen M,Tang Z

    更新日期：2019-06-27 00:00:00

  • Assessment of Random Error in Phantom Dosimetry with the Use of Error Simulation in Statistical Software.

    abstract：OBJECTIVE:To investigate if software simulation is practical for quantifying random error (RE) in phantom dosimetry. MATERIALS AND METHODS:We applied software error simulation to an existing dosimetry study. The specifications and the measurement values of this study were brought into the software (R version 3.0.2) to...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2015/596858

    authors： Hoogeveen RC,Martens EP,van der Stelt PF,Berkhout WE

    更新日期：2015-01-01 00:00:00

  • Predicting the types of J-proteins using clustered amino acids.

    abstract：:J-proteins are molecular chaperones and present in a wide variety of organisms from prokaryote to eukaryote. Based on their domain organizations, J-proteins can be classified into 4 types, that is, Type I, Type II, Type III, and Type IV. Different types of J-proteins play distinct roles in influencing cancer propertie...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2014/935719

    authors： Feng P,Lin H,Chen W,Zuo Y

    更新日期：2014-01-01 00:00:00

  • An alternative approach to protein folding.

    abstract：:A diffusion theory-based, all-physical ab initio protein folding simulation is described and applied. The model is based upon the drift and diffusion of protein substructures relative to one another in the multiple energy fields present. Without templates or statistical inputs, the simulations were run at physiologic ...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2013/583045

    authors： Kang Y,Fortmann CM

    更新日期：2013-01-01 00:00:00

  • Moringa peregrina Leaves Extracts Induce Apoptosis and Cell Cycle Arrest of Hepatocellular Carcinoma.

    abstract：:Moringa grows in the tropical and subtropical regions of the world. The genus Moringa belongs to family Moringaceae. It is found to possess various medicinal uses including hypoglycemic, analgesic, anti-inflammatory, hypolipidemic, and antioxidant activities. In this study, we investigated the antimicrobial and the an...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2019/2698570

    authors： Mansour M,Mohamed MF,Elhalwagi A,El-Itriby HA,Shawki HH,Abdelhamid IA

    更新日期：2019-01-01 00:00:00

  • Kinetics of Tyrosinase Inhibitory Activity Using Vitis vinifera Leaf Extracts.

    abstract：:Natural medical plant is considered as a good source of tyrosinase inhibitors. Red vine leaf extract (RVLE) can be applied to a wide variety of medical disciplines, such as treatments for chronic venous insufficiency over many decades. This study investigated the tyrosinase inhibitory activity of RVLE containing galli...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2017/5232680

    authors： Lin YS,Chen HJ,Huang JP,Lee PC,Tsai CR,Hsu TF,Huang WY

    更新日期：2017-01-01 00:00:00

  • Synthesis, characterization, and acute oral toxicity evaluation of pH-sensitive hydrogel based on MPEG, poly(ε-caprolactone), and itaconic acid.

    abstract：:A kind of chemically cross-linked pH-sensitive hydrogels based on methoxyl poly(ethylene glycol)-poly(caprolactone)-acryloyl chloride (MPEG-PCL-AC, PECA), poly(ethylene glycol) methyl ether methacrylate (MPEGMA, MEG), N,N-methylenebisacrylamide (BIS), and itaconic acid (IA) were prepared without using any organic solv...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2013/239838

    authors： Tan L,Xu X,Song J,Luo F,Qian Z

    更新日期：2013-01-01 00:00:00

  • Robust Individual-Cell/Object Tracking via PCANet Deep Network in Biomedicine and Computer Vision.

    abstract：:Tracking individual-cell/object over time is important in understanding drug treatment effects on cancer cells and video surveillance. A fundamental problem of individual-cell/object tracking is to simultaneously address the cell/object appearance variations caused by intrinsic and extrinsic factors. In this paper, in...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2016/8182416

    authors： Zhong B,Pan S,Wang C,Wang T,Du J,Chen D,Cao L

    更新日期：2016-01-01 00:00:00

  • Increased production of interleukin-4, interleukin-10, and granulocyte-macrophage colony-stimulating factor by type 2 diabetes' mononuclear cells infected with dengue virus, but not increased intracellular viral multiplication.

    abstract：:It has been reported that diabetes mellitus (DM) was an epidemiologically identified risk factor for development of dengue hemorrhagic fever (DHF)/severe dengue in dengue virus (DENV) affected patients, and T helper 2 (Th2) cytokines such as interleukin-4 (IL-4) and IL-10 each plays an important role in the immunopath...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2013/965853

    authors： Lee IK,Hsieh CJ,Chen RF,Yang ZS,Wang L,Chen CM,Liu CF,Huang CH,Lin CY,Chen YH,Yang KD,Liu JW

    更新日期：2013-01-01 00:00:00

  • Intracellular secretory leukoprotease inhibitor modulates inositol 1,4,5-triphosphate generation and exerts an anti-inflammatory effect on neutrophils of individuals with cystic fibrosis and chronic obstructive pulmonary disease.

    abstract：:Secretory leukoprotease inhibitor (SLPI) is an anti-inflammatory protein present in respiratory secretions. Whilst epithelial cell SLPI is extensively studied, neutrophil associated SLPI is poorly characterised. Neutrophil function including chemotaxis and degranulation of proteolytic enzymes involves changes in cytos...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2013/560141

    authors： Reeves EP,Banville N,Ryan DM,O'Reilly N,Bergin DA,Pohl K,Molloy K,McElvaney OJ,Alsaleh K,Aljorfi A,Kandalaft O,O'Flynn E,Geraghty P,O'Neill SJ,McElvaney NG

    更新日期：2013-01-01 00:00:00

  • In Vitro Anticancer Potential of Berberis lycium Royle Extracts against Human Hepatocarcinoma (HepG2) Cells.

    abstract：:Human liver cancer has emerged as a serious health concern in the world, associated with poorly available therapies. The Berberis genus contains vital medicinal plants with miraculous healing properties and a wide range of bioactivities. In this study, different crude extracts of B. lycium Royle were prepared and scre...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2020/8256809

    authors： Mustafa K,Mohamed H,Shah AM,Yu S,Akhlaq M,Xiao H,Li S,Naz T,Nosheen S,Bai X,Song Y

    更新日期：2020-10-14 00:00:00

  • Does Uterine Fibroid Adversely Affect Obstetric Outcome of Pregnancy?

    abstract：Background:Fibroid is the most common benign tumor of the uterus and if associated with pregnancy may adversely affect the outcome of pregnancy. Objective of the present study was to assess the obstetric outcome (maternal and fetal) in pregnancy with fibroid. Methods:A prospective observational study was performed ove...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2018/8367068

    authors： Saleh HS,Mowafy HE,Hameid AAAE,Sherif HE,Mahfouz EM

    更新日期：2018-03-26 00:00:00

  • Predictors for Unfavorable Early Outcomes in Elective Total Hip Arthroplasty: Does Extreme Body Mass Index Matter?

    abstract：Background:Studies of previous cohorts have demonstrated a controversial association between extreme body mass index (BMI) and complication rates following total hip arthroplasty (THA). The purpose of this study was to compare 30-day perioperative complications in underweight (BMI <18.50 kg/m2), normal-weight (BMI 18.5...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2019/4370382

    authors： Hung CY,Chang CH,Lin YC,Lee SH,Chen SY,Hsieh PH

    更新日期：2019-10-07 00:00:00

  • Modulation of the rat hepatic cytochrome P4501A subfamily using biotin supplementation.

    abstract：:Studies have found that biotin favors glucose and lipid metabolism, and medications containing biotin have been developed. Despite the use of biotin as a pharmacological agent, few studies have addressed toxicity aspects including the possible interaction with cytochrome P450 enzyme family. This study analyzed the eff...

    journal_title：BioMed research international

    pub_type： 杂志文章

    doi：10.1155/2013/627907

    authors： Ronquillo-Sánchez MD,Camacho-Carranza R,Fernandez-Mejia C,Hernández-Ojeda S,Elinos-Baez M,Espinosa-Aguirre JJ

    更新日期：2013-01-01 00:00:00

  • Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma.

    abstract：:The current data are still inconclusive in terms of a genetic component involved in the susceptibility to renal cell carcinoma. Our aim was to evaluate 40 selected candidate polymorphisms for potential association with clear cell renal cell carcinoma (ccRCC) based on independent group of 167 patients and 200 healthy c...

    journal_title：BioMed research international

    pub_type： 临床试验,杂志文章

    doi：10.1155/2015/860405

    authors： Pośpiech E,Ligęza J,Wilk W,Gołas A,Jaszczyński J,Stelmach A,Ryś J,Blecharczyk A,Wojas-Pelc A,Jura J,Branicki W

    更新日期：2015-01-01 00:00:00

  • Personalized Medicine Based on Theranostic Radioiodine Molecular Imaging for Differentiated Thyroid Cancer.

    abstract：:Molecular imaging based personalized therapy has been a fascinating concept for individualized therapeutic strategy, which is able to attain the highest efficacy and reduce adverse effects in certain patients. Theranostics, which integrates diagnostic testing to detect molecular targets for particular therapeutic moda...

    journal_title：BioMed research international

    pub_type： 杂志文章,评审

    doi：10.1155/2016/1680464

    authors： Ahn BC

    更新日期：2016-01-01 00:00:00