当前位置： SCI文献检索 > CLINICAL BIOCHEMISTRY期刊下所有文献 > Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.

Abstract：

OBJECTIVES:To characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling. DESIGN AND METHODS:We performed a wide mutational analysis of CFTR gene, using reverse dot blot, Multiplex Ligation-dependent Probe Amplification (MLPA) assay and Real Time Quantitative PCR, in a carrier male and two CF patients with the F508del mutation. RESULTS:We found a novel isolate 538bp deletion of exon 3, described as 328del538, giving rise to a nonsense codon 60bp at the 3' end of the new coding sequence or, alternatively, a novel splice site at the breakpoints. CONCLUSIONS:The 328del538 is a rare lesion with the characteristics of a complete, but moderate, phenotypic expression. Its finding underlines the importance of improving the detection of mutations using different methods.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Tomaiuolo AC,Sirleto P,Centrone C,Surace C,Alghisi F,Petrocchi S,Lombardo A,Rossi M,Torricelli F,Lucidi V,Angioni A

doi

10.1016/j.clinbiochem.2011.03.140

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

799-803

issue

10-11

eissn

0009-9120

issn

1873-2933

pii

S0009-9120(11)00300-6

journal_volume

44

pub_type

杂志文章

相关文献

CLINICAL BIOCHEMISTRY文献大全
  • Enzyme-linked immunosorbent assay (ELISAs) for metalloproteinase derived type II collagen neoepitope, CIIM--increased serum CIIM in subjects with severe radiographic osteoarthritis.

    abstract：OBJECTIVES:In joint degenerative diseases, the collagens are degraded by matrix metalloproteinases and protein fragments are released to serum as potential biomarkers. METHODS:A collagen type II specific neoepitope, CIIM, was identified (…RDGAAG(1053)) by mass spectrometry. Two ELISAs against the neoepitope were devel...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2011.01.001

    authors： Bay-Jensen AC,Liu Q,Byrjalsen I,Li Y,Wang J,Pedersen C,Leeming DJ,Dam EB,Zheng Q,Qvist P,Karsdal MA

    更新日期：2011-04-01 00:00:00

  • Serum galectin-3 levels in patients with nonalcoholic fatty liver disease.

    abstract：OBJECTIVES:Galectin-3 might serve as a biomarker of human metabolic alterations. We measured serum levels of galectin-3 in patients with nonalcoholic fatty liver disease (NAFLD) and examined their association with clinical and histological phenotypes. DESIGN AND METHODS:Serum levels of galectin-3 were assayed in 71 pa...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2011.05.015

    authors： Yilmaz Y,Eren F,Kurt R,Yonal O,Polat Z,Senates E,Bacha M,Imeryuz N

    更新日期：2011-08-01 00:00:00

  • Systemic redox biomarkers and their relationship to prognostic risk markers in autosomal dominant polycystic kidney disease and IgA nephropathy.

    abstract：BACKGROUND:Oxidative stress is evident from an early stage in chronic kidney disease (CKD). Therefore, we investigated redox biomarkers in polycystic kidney disease (ADPKD) and IgA nephropathy (IGAN). METHODS:This is a case-control study with three groups: ADPKD (n = 54), IGAN (n = 58) and healthy controls (n = 86). T...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2018.04.010

    authors： Tariq A,Mansoor MA,Marti HP,Jonsson G,Slettan A,Weeraman P,Apeland T

    更新日期：2018-06-01 00:00:00

  • Slow beta-migrating lipoprotein: an atherogenic subclass of low density lipoproteins.

    abstract：OBJECTIVE:To clarify the possibility that midband Lp in LDL fractions might act as an atherogenic lipoprotein in their interaction with macrophages. DESIGN AND METHODS:Low density lipoproteins (LDL) isolated by zonal ultracentrifugation from midband lipoprotein-positive serum in type lib hyperlipidemics were subjected...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/0009-9120(96)00009-c

    authors： Kawano M,Shinomiya M,Kanzaki T,Morisaki N,Shirai K,Saito Y,Yoshida S

    更新日期：1996-06-01 00:00:00

  • The production of creatine kinase isozyme BB in sera of a patient with prostatic carcinoma and in tumor homogenates.

    abstract：:1. A CK(BB) fraction was observed in sera of a patient with prostatic carcinoma. The fraction accounted for 59% of the total enzyme activity. A metastatic tumor of a prostatic carcinoma was observed to contain solely the CK(BB) isozyme. An embryonal testicular carcinoma was observed to have a higher percentage of the ...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(78)90641-0

    authors： Hoag G,Amies DR,Colquhoun BD

    更新日期：1978-04-01 00:00:00

  • A novel (A)γδβ(0)-thalassemia caused by DNA deletion-inversion-insertion of the β-globin gene cluster and five olfactory receptor genes: Genetic interactions, hematological phenotypes and molecular characterization.

    abstract：OBJECTIVE:To report the phenotypes and genetic basis of a novel (A)γδβ(0)-thalassemia found in Thai individuals with several forms of thalassemia. DESIGNS AND METHODS:An initial study was done in an adult Thai woman who had hypochromic microcytic red cells with unusually 100% Hb F. Extended study was carried out on he...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2015.03.023

    authors： Singha K,Fucharoen G,Hama A,Fucharoen S

    更新日期：2015-07-01 00:00:00

  • Detection of circulating tumor cells in peripheral blood from patients with gastric cancer using piRNAs as markers.

    abstract：OBJECTIVE:To investigate the feasibility of detecting circulating cancer cells in peripheral blood from gastric cancer patients using Piwi-interacting RNAs (piRNAs) as markers. DESIGN AND METHODS:Real-time quantitative reverse transcription-polymerase chain reaction was used to analyze piR-651 and piR-823 levels in th...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2011.06.004

    authors： Cui L,Lou Y,Zhang X,Zhou H,Deng H,Song H,Yu X,Xiao B,Wang W,Guo J

    更新日期：2011-09-01 00:00:00

  • Cyclosporine nephrotoxicity--experimental models.

    abstract：:Cyclosporine A (CsA) represents one of the more important therapeutic advances in the field of kidney transplantation. However, its effectiveness is limited by serious side effects, most notably nephrotoxicity. Investigation of the mechanisms of CsA-induced renal dysfunction has been hampered by the lack of a suitable...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章,评审

    doi：10.1016/0009-9120(91)90357-k

    authors： Thliveris JA,Yatscoff RW,Lukowski MP,Copeland KR

    更新日期：1991-02-01 00:00:00

  • Correlation between the administered dose of DHEA and serum levels of DHEA and DHEA-S in human volunteers: analysis of published data.

    abstract：OBJECTIVES:Studies from both experimental animals and humans suggest that administration of exogenous DHEA may have beneficial endocrine-metabolic, immunologic and neurologic effects. Several groups have administered DHEA to humans, but to the best of our knowledge, no one at this point has published a summary of the r...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(99)00021-1

    authors： Tummala S,Svec F

    更新日期：1999-07-01 00:00:00

  • Relationship between measured average glucose by continuous glucose monitor and HbA1c measured by three different routine laboratory methods.

    abstract：OBJECTIVES:The relationship between glycated hemoglobin A1c (HbA1c) and average glucose has been described by the empirically derived estimated average glucose (eAG) equation in the A1c-Derived Average Glucose (ADAG) study, with extensive calibration efforts in four secondary reference HbA1c methods. It is not known if...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2015.02.012

    authors： Loh TP,Sethi SK,Wong MS,Tai ES,Kao SL

    更新日期：2015-05-01 00:00:00

  • Identification of apo- and holo-forms of ceruloplasmin in patients with Wilson's disease using native polyacrylamide gel electrophoresis.

    abstract：OBJECTIVES:To determine the serum ratio of holo-ceruloplasmin to total ceruloplasmin in patients with Wilson's disease (WD), we identified apo- and holo-forms of serum ceruloplasmin with native-PAGE electrophoresis. DESIGN AND METHODS:Serum obtained from nine patients with Wilson's disease was subjected to native-PAGE...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2004.09.008

    authors： Hirano K,Ogihara T,Ogihara H,Hiroi M,Hasegawa M,Tamai H

    更新日期：2005-01-01 00:00:00

  • Simplified method for determination of protocollagen proline hydroxylase.

    abstract：:Preparation of (14C) Pro labeled protocollagen and requirements for its hydroxylation by PPH was investigated. Protocollagen can be prepared by centrifugation of the biological material at 15.000 X g. Substances in current use, viz catalase, bovine serum albumin and dithiothreitol were found unnecessary under the hydr...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(76)80072-0

    authors： Blumenkrantz N,Asboe-Hansen G

    更新日期：1976-12-01 00:00:00

  • Correlation of endothelin 1 plasma levels with plasma antioxidant capacity in elderly patients treated for hypertension.

    abstract：UNLABELLED:Experimental studies confirmed that reactive oxygen species increase endothelin-1 (ET-1) synthesis, and modulate ET-1 signaling pathway resulting in vasoconstriction and vascular remodeling. The aim of this study was to evaluate the relationship between plasma ET-1 concentration and antioxidant status in pat...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2008.11.002

    authors： Skalska AB,Pietrzycka A,Stepniewski M

    更新日期：2009-03-01 00:00:00

  • Effects of non-pharmacological sympathetic sudomotor denervation on sweating in humans with essential palmar hyperhidrosis.

    abstract：OBJECTIVE:Quantitative sweat production and -ionic composition in Essential Hyperhidrosis (EH), and the effects of T2-T3 thoracoscopic sympathicolysis (TS) hereon, are unknown. Standardised pilocarpine iontophoresis sweat tests were performed before and after TS in order to study these issues. DESIGN AND METHODS:Piloc...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(96)00165-8

    authors： Noppen M,Sevens C,Vincken WG

    更新日期：1997-03-01 00:00:00

  • Development of a direct DNA sequencing method for detecting heterozygous mutations of the human lipoprotein lipase gene.

    abstract：OBJECTIVE:The purpose of this study was to develop an improved method of direct DNA sequencing, which makes it possible to identify heterozygous mutations of the lipoprotein lipase (LPL) gene in order to understand the underlying genetic disorder of type IV hyperlipoproteinemia. METHODS AND RESULTS:The direct sequenci...

    journal_title：Clinical biochemistry

    pub_type： 临床试验,杂志文章

    doi：10.1016/s0009-9120(97)00005-2

    authors： Mori A,Takagi A,Ikeda Y,Yamamoto A

    更新日期：1997-06-01 00:00:00

  • A method for the determination of sex hormone binding globulin in human serum.

    abstract：:A simple and rapid method for serum sex hormone binding globulin (SHBG) was developed. Sera from pregnant women were pooled and the SHBG concentration was measured by Rosner's method. This pool was diluted with charcoal-treated and heated serum to give standards ranging in concentrations from 26.8-0.8 micrograms/L. Tw...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(85)80031-x

    authors： Zachariah NY,Thornblom RV,Chakmakjian ZH,Sumner GG

    更新日期：1985-10-01 00:00:00

  • Expression of STK15 mRNA in hepatocellular carcinoma and its prognostic significance.

    abstract：OBJECTIVES:To investigate whether the STK15 mRNA expression correlates with clinicopathologic features and the prognosis of HCC patients. DESIGN AND METHODS:Three hepatoma cell lines, two normal liver epithelial cell lines, hepatoma tissues, adjacent tumor tissues and normal liver tissues were obtained from 46 HCC pat...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2009.01.023

    authors： Wang R,Wang JH,Chu XY,Geng HC,Chen LB

    更新日期：2009-05-01 00:00:00

  • Biochemical impact of a soccer match - analysis of oxidative stress and muscle damage markers throughout recovery.

    abstract：BACKGROUND:Exercise is a prone condition to enhanced oxidative stress and damage and the specific activity pattern of a soccer match may favour additional pro-oxidant redox alterations. To date, no studies have reported the impact of a soccer match on oxidative stress and muscle damage markers. AIM:To analyse the effe...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2008.04.008

    authors： Ascensão A,Rebelo A,Oliveira E,Marques F,Pereira L,Magalhães J

    更新日期：2008-07-01 00:00:00

  • Timing of specimen collection is crucial in urine screening of drug dependent mothers and newborns.

    abstract：:We compared results of urine drug analysis with clinical data and history to test the usefulness of peripartum drug screening and to establish guidelines for optimal testing. Urine from 28 mothers and 52 babies was analysed. Drugs not suspected by history were found in 10 mothers and six babies. Results assisted in th...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(88)80113-9

    authors： Halstead AC,Godolphin W,Lockitch G,Segal S

    更新日期：1988-01-01 00:00:00

  • Analytical interference of 4-hydroxy-3-methoxymethamphetamine with the measurement of plasma free normetanephrine by ultra-high pressure liquid chromatography-tandem mass spectrometry.

    abstract：OBJECTIVES:The diagnosis of pheochromocytoma relies on the measurement of plasma free metanephrines assay whose reliability has been considerably improved by ultra-high pressure liquid chromatography tandem mass spectrometry (UHPLC-MS/MS). Here we report an analytical interference occurring between 4-hydroxy-3-methoxym...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2014.04.003

    authors： Dunand M,Donzelli M,Rickli A,Hysek CM,Liechti ME,Grouzmann E

    更新日期：2014-08-01 00:00:00

  • Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.

    abstract：OBJECTIVES:Homologous recombination is a frequent phenomenon in multigene families and as such it occurs several times in both the alpha- and beta-like globin gene families. In numerous occasions, genetic recombination has been previously implicated as a major mechanism that drives mutagenesis in the human globin gene ...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章,评审

    doi：10.1016/j.clinbiochem.2009.07.014

    authors： Borg J,Georgitsi M,Aleporou-Marinou V,Kollia P,Patrinos GP

    更新日期：2009-12-01 00:00:00

  • APOC3 -482C>T polymorphism, circulating apolipoprotein C-III and smoking: interrelation and roles in predicting type-2 diabetes and coronary disease.

    abstract：OBJECTIVES:We determined the relationship of smoking status on APOC3 -482C>T polymorphism and apolipoprotein C-III (apoC-III) concentrations and the latter two parameters' influence on risk of diabetes and coronary heart disease (CHD). DESIGN AND METHODS:Prediction of incident cases was assessed at 5.5years' follow-up...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2010.12.009

    authors： Onat A,Erginel-Unaltuna N,Coban N,Ciçek G,Yüksel H

    更新日期：2011-04-01 00:00:00

  • Alterations of serum enzymes during therapy directed at human malignant sarcomas: a radiological follow-up study of tumor transformation.

    abstract：:1. When a malignant growth is developing in a patient, one often observes in the serum an increased activity of serum enzymes due to necrosis and increased membrane permeability caused by the altered metabolism of malignant cells. Conversely, I considered it interesting to check the enzymes of the malate-aspartate sh...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(77)92378-5

    authors： Nyandieka HS

    更新日期：1977-08-01 00:00:00

  • Predictors of inexplicable coronary artery spasm during coronary angiography in patients with stable angina--the role of intravascular oxidative stress.

    abstract：OBJECTIVE:This study was conducted to investigate the potential role of intravascular oxidative stress in inexplicable episodes of coronary artery spasm (CAS) during coronary angiography (CAG). DESIGN AND METHODS:Serial patients with stable angina scheduled for routine CAG were prospectively evaluated. Patients with c...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2009.01.021

    authors： Leu HB,Lin WT,Lin CP,Wu TC,Lin SJ,Chen JW

    更新日期：2009-05-01 00:00:00

  • Effect of ethanol on tumor necrosis factor signaling during liver regeneration.

    abstract：OBJECTIVES:The liver has tremendous regenerative capacity but can be damaged by toxins, such as ethanol (EtOH). It has long been known that EtOH inhibits liver regeneration. Recent work demonstrates that the proinflammatory cytokine, tumor necrosis factor ( (TNF), is required for normal liver regeneration, as well as f...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(99)00057-0

    authors： Diehl AM

    更新日期：1999-10-01 00:00:00

  • Rapid and quantitative detection of CpG-methylation status using TaqMan PCR combined with methyl-binding-domain polypeptide.

    abstract：OBJECTIVES:To assess the medical applicability of CpG methylation as molecular markers for cancer diagnosis, we established a new system to determine DNA methylation based on TaqMan PCR combined with a methyl-binding-domain polypeptide 2. DESIGN AND METHODS:We evaluated the diagnostic applicability of this approach by...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2009.03.017

    authors： Kimura N,Moribe T,Iizuka N,Miura T,Tamatsukuri S,Ishitsuka H,Hamamoto Y,Oka M

    更新日期：2009-07-01 00:00:00

  • Dimethyl sulphoxide (DMSO) induced serum hyperosmolality.

    abstract：:We describe a patient who received intravenous dimethyl sulphoxide (DMSO) (as part of an experimental protocol) to control increased intracranial pressure. The patient died of a brain abscess. She developed extreme serum hyperosmolality from the DMSO with the osmolality peaking at 717 mosmol/kg. DMSO may induce extrem...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(83)90168-6

    authors： Wolf P,Simon M

    更新日期：1983-08-01 00:00:00

  • Enzyme linked lectin assay (ELLA) for direct analysis of transferrin sialylation in serum samples.

    abstract：OBJECTIVES:Glycosylation analysis provides many opportunities for diagnostics, but its complexity hampers its routine application. Aiming to alleviate this problem, we developed a simple assay that can measure sialylation of transferrin directly from serum. DESIGN AND METHODS:Transferrin samples with different levels ...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2007.01.010

    authors： Gornik O,Lauc G

    更新日期：2007-06-01 00:00:00

  • Prognostic significance of circulating intact and cleaved forms of urokinase plasminogen activator receptor in inoperable chemotherapy treated cholangiocarcinoma patients.

    abstract：BACKGROUND:High levels of intact and cleaved forms of the urokinase-type plasminogen activator receptor (uPAR) in both tissue and blood are associated with poor survival in several cancer diseases. The prognostic significance of uPAR in cholangiocarcinoma is unknown. The aims of this study were to determine if pre-trea...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2014.01.030

    authors： Grunnet M,Christensen IJ,Lassen U,Jensen LH,Lydolph M,Lund IK,Thurison T,Høyer-Hansen G,Mau-Sørensen M

    更新日期：2014-05-01 00:00:00

  • Quantification of the variation due to lysing technique in immunophenotyping of healthy and HIV-infected individuals.

    abstract：OBJECTIVE:We performed a side-by-side comparison between three stain-then-lyse commercially available methods (Ortho-mune Lysing solution, FACS lysing solution and ImmunoPrep reagent system) and a lyse-then-stain method using hypotonic NH4Cl. The major difference between these methods is that only in the latter the ali...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(98)00011-3

    authors： Pacifici R,Zuccaro P,Cozzi-Lepre A,di Carlo S,Bacosi A,Fattorossi A

    更新日期：1998-04-01 00:00:00