Dominant spinocerebellar ataxias: a molecular approach to classification, diagnosis, pathogenesis and the future.

abstract：:The measurement of numerous samples as in drug screening or diagnostics has been improved significantly over recent years. The processing of a great number of carriers with 96, 384 or 1536 wells is not the limiting step anymore and more than 100,000 samples can be analyzed within 24 h. New challenges arise in optimizi...

journal_title：Expert review of molecular diagnostics

authors： Schaertl S,Meyer-Almes FJ

更新日期：2001-11-01 00:00:00

abstract：:Mass spectrometry (MS) has found numerous applications in life sciences. It has high accuracy, sensitivity and wide dynamic range in addition to medium- to high-throughput capabilities. These features make MS a superior platform for analysis of various biomolecules including proteins, lipids, nucleic acids and carbohy...

journal_title：Expert review of molecular diagnostics

authors： Ganova-Raeva LM,Khudyakov YE

更新日期：2013-05-01 00:00:00

abstract：:Deciphering the cellular and molecular interactions that drive disease within the tissue microenvironment holds promise for discovering drug targets of the future. In order to recapitulate the in vivo interactions through molecular analysis, one must be able to analyze specific cell populations within the context of t...

journal_title：Expert review of molecular diagnostics

authors： Espina V,Heiby M,Pierobon M,Liotta LA

更新日期：2007-09-01 00:00:00

abstract：:Activating mutation of KRAS plays a significant role in the pathogenesis of common human malignancies and molecular testing of KRAS mutation has emerged as an essential biomarker in the current practice of clinical oncology. The presence of KRAS mutation is generally associated with clinical aggressiveness of the canc...

journal_title：Expert review of molecular diagnostics

authors： Perincheri S,Hui P

更新日期：2015-03-01 00:00:00

abstract：:Introduction: Chlamydia trachomatis and Neisseria gonorrhoeae infection rates continue to rise worldwide. Increasing screening of the largely asymptomatic infections is critical for timely and effective disease control. Laboratory solutions that can handle increasing volumes and generate highly accurate test results a...

journal_title：Expert review of molecular diagnostics

authors： Van Der Pol B

更新日期：2020-04-01 00:00:00

abstract：:Although comprehensive molecular diagnostics and personalized medicine have sparked excitement among researchers and clinicians, they have yet to be fully incorporated into today's standard of care. This is despite the discovery of disease-related oncogenes, tumor-suppressor genes and protein biomarkers, as well as ot...

journal_title：Expert review of molecular diagnostics

authors： Zoon CK,Starker EQ,Wilson AM,Emmert-Buck MR,Libutti SK,Tangrea MA

更新日期：2009-07-01 00:00:00

abstract：:Leptospirosis is a bacterial zoonotic disease that remains a public health problem worldwide. Unfortunately, the current gold standard test used for the serological diagnosis of leptospirosis has some drawbacks and there is no vaccine available for successful prevention of leptospirosis in humans. Therefore, recent re...

journal_title：Expert review of molecular diagnostics

authors： Thongboonkerd V

更新日期：2008-01-01 00:00:00

abstract：INTRODUCTION:Syphilis remains an important and preventable cause of stillbirth and neonatal mortality. About 1 million women with active syphilis become pregnant each year. Without treatment, 25% of them will deliver a stillborn baby and 33% a low birth weight baby with an increased chance of dying in the first month o...

journal_title：Expert review of molecular diagnostics

authors： Marks M,Mabey DC

更新日期：2017-04-01 00:00:00

abstract：:Alzheimer's disease is the most common form of dementia in the elderly and its prevalence is rapidly rising. Although there is no cure for Alzheimer's disease, treatment can be administered to slow progression or delay the onset of symptoms. A major challenge is the early identification of patients who will develop Al...

journal_title：Expert review of molecular diagnostics

authors： Chang CY,Silverman DH

更新日期：2004-01-01 00:00:00

abstract：:Several biomarkers associated with spontaneous preterm birth (PTB) have been discovered over the last decade. Many of these markers, such as cytokines, are associated with infection and inflammation. As such, these biomarkers represent biologically plausible candidates for assessing those at risk of PTB. However, in t...

journal_title：Expert review of molecular diagnostics

authors： Williams SM,Velez DR,Menon R

更新日期：2010-01-01 00:00:00

abstract：:The Introduction of targeted therapeutics into clinical practice has created major opportunities for further development of the molecular diagnostics industry. Emerging genomic and proteomic technologies and information are now resulting in the molecular subclassification of disease as the basis for diagnosis, prognos...

journal_title：Expert review of molecular diagnostics

authors： Ross JS,Ginsburg GS

更新日期：2002-11-01 00:00:00

abstract：INTRODUCTION:The 2014-16 outbreak of ebola virus disease (EVD) in West Africa resulted in 11,308 deaths. During the outbreak only 60% of patients were laboratory confirmed and global health authorities have identified the need for accurate and readily deployable molecular diagnostics as an important component of the id...

journal_title：Expert review of molecular diagnostics

authors： Tembo J,Simulundu E,Changula K,Handley D,Gilbert M,Chilufya M,Asogun D,Ansumana R,Kapata N,Ntoumi F,Ippolito G,Zumla A,Bates M

更新日期：2019-04-01 00:00:00

abstract：:Despite numerous technical hurdles, the realization of true personalized medicine is becoming a progressive reality for the future of patient care. With the development of new techniques and tools to measure the genetic signature of tumors, biomarkers are increasingly being used to detect occult tumors, determine the ...

journal_title：Expert review of molecular diagnostics

authors： Guzzetta AA,Pisanic Ii TR,Sharma P,Yi JM,Stark A,Wang TH,Ahuja N

更新日期：2014-09-01 00:00:00

abstract：:Among nucleic acid analytical methods, high-resolution melting analysis is gaining more and more attention. High-resolution melting provides simple, homogeneous solutions for variant scanning and genotyping, addressing the needs of today's overburdened laboratories with rapid turnaround times and minimal cost. The fle...

journal_title：Expert review of molecular diagnostics

authors： Montgomery JL,Sanford LN,Wittwer CT

更新日期：2010-03-01 00:00:00

abstract：:Introduction: This review concerns biomarkers of blood activation and their measurement in plasma, as described in the literature up to 2019, and from our personal experience. How their measurement can be informative and useful, for research studies or for diagnostic applications, is presented and discussed.Areas cove...

journal_title：Expert review of molecular diagnostics

authors： Amiral J

更新日期：2020-01-01 00:00:00

abstract：:Acute pancreatitis has a mortality rate of 5-10%. Early deaths are mainly due to multiorgan failure and late deaths are due to septic complications from pancreatic necrosis. The recently described 2012 Revised Atlanta Classification and the Determinant Classification both provide a more accurate description of edemato...

journal_title：Expert review of molecular diagnostics

authors： Gomatos IP,Xiaodong X,Ghaneh P,Halloran C,Raraty M,Lane B,Sutton R,Neoptolemos JP

更新日期：2014-04-01 00:00:00

abstract：:Differences in protein levels and the activation of signaling pathways have been extensively studied in tumor tissues, but the implementation of protein profiling methods in routine hospital workflows lags far behind that of nucleic acid-based approaches. In this review, major technologies that are currently used for ...

journal_title：Expert review of molecular diagnostics

authors： Boellner S,Becker KF

更新日期：2015-01-01 00:00:00

abstract：:MicroRNAs regulate target gene expression through translation repression or mRNA decay, and they are emerging as important modulators in cellular pathways. Previous studies have shown the occurrence of epigenetically modified miRNAs in colorectal cancer (CRC), identifying these miRNA methylation signatures may provide...

journal_title：Expert review of molecular diagnostics

authors： Cho WC

更新日期：2011-09-01 00:00:00

abstract：:Prostate cancer (PCa) is one of the leading causes of cancer death among males, especially in more developed countries. Diagnosis is often achieved at an early stage of the disease with prostate biopsy, following a screening test showing elevated serum levels of prostate-specific antigen or a positive digital rectal e...

journal_title：Expert review of molecular diagnostics

authors： Kontos CK,Adamopoulos PG,Scorilas A

更新日期：2015-01-01 00:00:00

abstract：:In recent years, the real time-based TaqMan(®) technology has allowed the development of highly sensitive hepatitis viral load tests with broad dynamic ranges. The increasing applications of these tests in clinical diagnostics have shown the utility of viral load as a predictive marker of treatment response and proven...

journal_title：Expert review of molecular diagnostics

authors： Colucci G,Knobel R

更新日期：2011-11-01 00:00:00

abstract：:The hematogenous dissemination of cancer and development of distant metastases is the cause of nearly all cancer deaths. Detection of circulating tumor cells (CTCs) as a surrogate biomarker of metastases has gained increasing interest. There is accumulating evidence on development of novel technologies for CTC detecti...

journal_title：Expert review of molecular diagnostics

authors： Balic M,Lin H,Williams A,Datar RH,Cote RJ

更新日期：2012-04-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is an inherited metabolic disease with an autosomal dominant pattern of inheritance. The disease is caused by a partial deficiency of porphobilinogen deaminase (PBGD) in heme biosynthesis. Since biochemical measurements of patients and their healthy relatives overlap, the diagnosis o...

journal_title：Expert review of molecular diagnostics

authors： Kauppinen R

更新日期：2004-03-01 00:00:00

abstract：INTRODUCTION:Osteoarthritis (OA) is a highly heterogenous disease influenced by different molecular, anatomic, and physiologic imbalances. Some of the bottlenecks for enhanced diagnosis and therapeutic assessment are the lack of validated biomarkers and early diagnosis tools. In this narrative review, we analyze the po...

journal_title：Expert review of molecular diagnostics

authors： Casal-Beiroa P,González P,Blanco FJ,Magalhães J

更新日期：2020-08-01 00:00:00

abstract：INTRODUCTION:There is a significant interest in developing inexpensive portable biosensing platforms for various applications including disease diagnostics, environmental monitoring, food safety, and water testing at the point-of-care (POC) settings. Current diagnostic assays available in the developed world require so...

journal_title：Expert review of molecular diagnostics

authors： Sher M,Zhuang R,Demirci U,Asghar W

更新日期：2017-04-01 00:00:00

abstract：INTRODUCTION:Esophageal and esophago-gastric junction (EGJ) adenocarcinomas remain a major health problem worldwide with a worryingly increasing incidence. Recent trials indicate survivals benefit for preoperative or perioperative chemoradiotherapy compared to surgery alone. Beside standard chemoradiotherapy regimens, ...

journal_title：Expert review of molecular diagnostics

authors： Piro G,Carbone C,Santoro R,Tortora G,Melisi D

更新日期：2018-04-01 00:00:00

abstract：:Most common diseases also run in families as rare, monogenic forms. Diabetes is no exception. Mutations in approximately 20 different genes are now known to cause monogenic diabetes, a disease group that can be subclassified into maturity-onset diabetes of the young, neonatal diabetes and mitochondrial diabetes. In so...

journal_title：Expert review of molecular diagnostics

authors： Molven A,Njølstad PR

更新日期：2011-04-01 00:00:00

abstract：:Neurodevelopmental disorders, such as autism, are complex entities that can be caused by biological and social factors. In a subset of patients with congenital neurodevelopmental disorders, clear diagnosis can be achieved using DNA sequence-based analysis to identify changes in the DNA sequence (genetic variation). Ho...

journal_title：Expert review of molecular diagnostics

authors： Kubota T,Miyake K,Hariya N,Mochizuki K

更新日期：2014-07-01 00:00:00

abstract：:Introduction: Osteoarthritis (OA) is a degenerative disease which primarily affects hyaline cartilage, leading to pain, stiffness and loss of mobility of the entire articulation. Diagnosis is commonly based on symptoms and radiographs, but there is a growing interest in detecting novel biomarkers, in serum, urine and ...

journal_title：Expert review of molecular diagnostics

authors： Ravalli S,Szychlinska MA,Lauretta G,Di Rosa M,Musumeci G

更新日期：2020-04-01 00:00:00

abstract：:Endometriosis is defined as the presence of endometrial glands and stroma outside the uterus, in different parts of the peritoneal cavity. It affects up to 10% of reproductive-age women and up to 50% of women with infertility. Surgical diagnosis of endometriosis is still the gold standard, with no diagnostic biomarker...

journal_title：Expert review of molecular diagnostics

authors： Rižner TL

更新日期：2015-04-01 00:00:00

abstract：:Hearing loss has a genetic etiology in the majority of cases and is very common. The universal newborn hearing screening program, together with remarkable recent progress in the characterization of genes associated with the function of hearing, have resulted in increased demand and exciting possibilities of detecting ...

journal_title：Expert review of molecular diagnostics

authors： Schrijver I,Gardner P

更新日期：2006-05-01 00:00:00