Role of molecular genetics in transforming diagnosis of diabetes mellitus.

abstract：INTRODUCTION:A classification of rhabdomyosarcoma (RMS) with prognostic relevance has primarily relied on clinical features and histologic classification as either embryonal or alveolar RMS. The PAX3-FOXO1 and PAX7-FOXO1 gene fusions occur in 80% of cases with the alveolar subtype and are more predictive of outcome tha...

journal_title：Expert review of molecular diagnostics

authors： Arnold MA,Barr FG

更新日期：2017-02-01 00:00:00

abstract：:The CCN genes encode secreted signaling proteins that participate in fundamental processes including cell adhesion, proliferation and differentiation, embryogenesis, tissue remodeling and patterning. Abnormal expression of CCN proteins is associated with several pathological conditions, including vascular diseases, fi...

journal_title：Expert review of molecular diagnostics

authors： Perbal B

更新日期：2003-09-01 00:00:00

abstract：:Methylation of cytosines in cytosine-guanine (CpG) dinucleotides is one of the most important epigenetic alterations in animals. The presence of methylcytosine in the promoter of specific genes has profound consequences on local chromatin structure and on the regulation of gene expression. Changes in DNA methylation p...

journal_title：Expert review of molecular diagnostics

authors： Dehan P,Kustermans G,Guenin S,Horion J,Boniver J,Delvenne P

更新日期：2009-10-01 00:00:00

abstract：INTRODUCTION:A reliable liver autoimmune serology for the diagnosis of primary biliary cholangitis (PBC) is of particular importance. Recognition of patients at early stages and prompt treatment initiation may alter the outcome, slow progression, delays liver failure, and improves survival. AREAS COVERED:In this revie...

journal_title：Expert review of molecular diagnostics

authors： Gatselis NK,Dalekos GN

更新日期：2016-09-01 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：: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:Advances in the biology of non-small-cell lung cancer, especially adenocarcinoma, reveal multiple molecular subtypes driving oncogenesis. Accordingly, individualized targeted therapeutics are based on mutational diagnostics. AREAS COVERED:Advances in strategies and techniques for individualized treatment,...

journal_title：Expert review of molecular diagnostics

authors： Salgia R

更新日期：2016-07-01 00:00:00

abstract：:Fluorescence in situ hybridization, spectral karyotyping, multiplex fluorescence in situ hybridization, comparative genomic hybridization, and more recently array comparative genomic hybridization, represent advancements in the field of molecular cytogenetics. The application of these techniques for the analysis of sp...

journal_title：Expert review of molecular diagnostics

authors： Dorritie K,Montagna C,Difilippantonio MJ,Ried T

更新日期：2004-09-01 00:00:00

abstract：:Introduction: Sepsis, defined as a life-threatening organ dysfunction resulting from dysregulated host response to infection, is still a major challenge for healthcare systems. Early diagnosis is highly needed, yet challenging, due to the non-specificity of clinical symptoms. Rapid and targeted application of therapy ...

journal_title：Expert review of molecular diagnostics

authors： Schenz J,Weigand MA,Uhle F

更新日期：2019-12-01 00:00:00

abstract：:The natural history of high-grade cervical intraepithelial neoplasia (CIN) is largely unpredictable and current histopathological examination is unable to differentiate between lesions that will regress and those that will not. Therefore, most high-grade lesions are currently treated by surgical excision, leading to o...

journal_title：Expert review of molecular diagnostics

authors： Koeneman MM,Kruitwagen RF,Nijman HW,Slangen BF,Van Gorp T,Kruse AJ

更新日期：2015-04-01 00:00:00

abstract：:The microscopic pathology of Hodgkin lymphoma has been recognized for well over a century; however, only in the past 15 years has the enigmatic nature of this peculiar neoplasm been somewhat unraveled. This has been accomplished via a combination of the acquisition, via microdissection, of the prototypically rare mali...

journal_title：Expert review of molecular diagnostics

authors： Roullet MR,Bagg A

更新日期：2007-11-01 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

abstract：INTRODUCTION:Prostate cancer (PCa) is a common cancer in men, but variable clinical behaviors make its management challenging. Risk stratification is a key issue in disease management. Patient-tailored strategies are strongly advocated to reduce unnecessary treatment while maximizing the oncological outcomes of patient...

journal_title：Expert review of molecular diagnostics

authors： Colicchia M,Morlacco A,Cheville JC,Karnes RJ

更新日期：2017-04-01 00:00:00

abstract：:A concise survey of the emerging PD-loop technology is presented, which outlines several exemplary methods with robust DNA diagnostic potential: duplex DNA capture, topological DNA labeling, nondenaturing DNA sequencing and hybridization of molecular beacons to double-stranded DNA. Advantages of these new PNA-based as...

journal_title：Expert review of molecular diagnostics

authors： Demidov VV

更新日期：2001-09-01 00:00:00

abstract：:Introduction Thousands of genes are implicated in spermatogenesis, testicular development and endocrine regulation of testicular function. The genetic contribution to male infertility is therefore considerable, and basic and clinical research in the last years found a number of genes that could potentially be used in ...

journal_title：Expert review of molecular diagnostics

authors： Ferlin A,Dipresa S,Delbarba A,Maffezzoni F,Porcelli T,Cappelli C,Foresta C

更新日期：2019-07-01 00:00:00

abstract：:The generation of a draft sequence of a the human genome has provided the opportunity to characterize human diversity, even as it pertains to differences in host response to parasitic infection with organisms that cause lymphatic filariasis, malaria and schistosomiasis. Worldwide, human infection with filarial pathoge...

journal_title：Expert review of molecular diagnostics

authors： Choi EH,Nutman TB,Chanock SJ

更新日期：2003-05-01 00:00:00

abstract：INTRODUCTION:Drug-induced liver injury (DILI) is a severe adverse drug reaction which is of major concern to patients, clinicians and the pharmaceutical industry. Accurate and rapid detection of DILI is important for patient stratification and treatment in the clinic and benefits preclinical drug design and risk assess...

journal_title：Expert review of molecular diagnostics

authors： Howell LS,Ireland L,Park BK,Goldring CE

更新日期：2018-01-01 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：:Early diagnosis of Alzheimer's disease is important in initiating symptomatic treatment with acetylcholine esterase inhibitors, and will be of even greater significance if drugs with a potential to slow down the degenerative process, such as beta-secretase inhibitors and beta-amyloid vaccination, prove to have a clini...

journal_title：Expert review of molecular diagnostics

authors： Blennow K

更新日期：2005-09-01 00:00:00

abstract：:Stroke is a multifactorial disease responsible for nearly 10% of deaths each year in industrialized countries. While some monogenic forms of stroke have been described, the vast majority result from the common polygenic form of the disease. Progress in molecular genetics has allowed the identification, through genome-...

journal_title：Expert review of molecular diagnostics

authors： Domingues-Montanari S,Mendioroz M,del Rio-Espinola A,Fernández-Cadenas I,Montaner J

更新日期：2008-07-01 00:00:00

abstract：:Skin melanoma, a life-threatening disease, has a recently reported worldwide increase in incidence, despite primary prevention. Skin melanoma statistics emphasize the need for finding markers related to the immune response of the host. The mechanisms that are able to over-power the local immune surveillance comprise m...

journal_title：Expert review of molecular diagnostics

authors： Neagu M,Constantin C,Tanase C

更新日期：2010-10-01 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：:The molecular investigation of lung cancer has opened up an advanced area for the diagnosis and therapeutic management of lung cancer patients. Gene alterations in cancer initiation and progression provide not only information on molecular changes in lung cancer but also opportunities in advanced therapeutic regime by...

journal_title：Expert review of molecular diagnostics

authors： Li CM,Chu WY,Wong DL,Tsang HF,Tsui NB,Chan CM,Xue VW,Siu PM,Yung BY,Chan LW,Wong SC

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：INTRODUCTION:Bipolar disorder is a chronic and disabling mood disorder with a complex pathophysiological basis. A significant percentage of patients do not receive correct diagnosis which directly influences therapeutic response, rendering recovery troublesome. There is a long-standing need for proper non-clinically ba...

journal_title：Expert review of molecular diagnostics

authors： Teixeira AL,Salem H,Frey BN,Barbosa IG,Machado-Vieira R

更新日期：2016-11-01 00:00:00

abstract：BACKGROUND:The aim of this manuscript was to explore the molecular basis and identify novel biomarkers for the diagnosis and prognosis of patients with chronic disorder of consciousness. METHODS:A coupled isobaric tag for relative and absolute quantitation-based approach was used to screen differentially expressed pro...

journal_title：Expert review of molecular diagnostics

authors： Bao W,He F,Gao J,Meng F,Zou H,Luo B

更新日期：2018-03-01 00:00:00

abstract：INTRODUCTION:Rapidity, simplicity, and portability are highly desirable characteristics of tests and devices designed for performing diagnostics at the point of care (POC), either near patients managed in healthcare facilities or to offer bioanalytical alternatives in external settings. By reducing the turnaround time ...

journal_title：Expert review of molecular diagnostics

authors： Bissonnette L,Bergeron MG

更新日期：2017-05-01 00:00:00

abstract：:With the emergence of new viral infections, it is necessary to set up new target-specific assays, based on existing molecular techniques such as real-time PCR, as quickly as possible. Without these diagnostic tools, the geographical spread of new infections, follow-up of the disease outbreak and analysis of the pathog...

journal_title：Expert review of molecular diagnostics

authors： Pas SD,Koopmans MP,Niedrig M

更新日期：2016-01-01 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：:Testing for amplification of the human EGF receptor 2 (HER2) gene by in situ hybridization is a central principle for the identification of breast cancer patients likely to respond to treatments directed toward HER2. However, its application in clinical routine has been somewhat restricted by the typical use of a visu...

journal_title：Expert review of molecular diagnostics

authors： Foged NT,Brügmann A,Jørgensen JT

更新日期：2013-04-01 00:00:00