Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy.

abstract：:The fundamental strategy of the current postgenomic era or the era of functional genomics is to expand the scale of biologic research from studying single genes or proteins to studying all genes or proteins simultaneously using a systematic approach. As recently developed methods for obtaining genome-wide mRNA express...

journal_title：Expert review of molecular diagnostics

authors： Ewis AA,Zhelev Z,Bakalova R,Fukuoka S,Shinohara Y,Ishikawa M,Baba Y

更新日期：2005-05-01 00:00:00

abstract：INTRODUCTION:Aspergillus species, primarily Aspergillus fumigatus, are still the most emerging fungal pathogens. Within recent years, novel molecular methods have been developed to improve the diagnosis of life-threatening invasive aspergillosis in high risk patients. Especially patients with malignant hematological di...

journal_title：Expert review of molecular diagnostics

authors： Buchheidt D,Reinwald M,Hofmann WK,Boch T,Spiess B

更新日期：2017-06-01 00:00:00

abstract：:High throughput gene sequencing is transforming the utilization of genomics in patient care by providing physicians with a powerful tool to aid the diagnosis and management of disease, particularly in precision oncology. As next-generation sequencing (NGS)-based diagnostic assays are developed, significant hurdles suc...

journal_title：Expert review of molecular diagnostics

authors： Kruglyak KM,Lin E,Ong FS

更新日期：2014-07-01 00:00:00

abstract：:Non-targeted identification of microbes is now possible directly in biological samples, based on whole-genome-NGS (WG-NGS) techniques that allow deep sequencing of nucleic acids, data mining and sorting out of sequences of pathogens without any a priori hypothesis. WG-NGS was first only used as a research tool due to ...

journal_title：Expert review of molecular diagnostics

authors： Lecuit M,Eloit M

更新日期：2015-01-01 00:00:00

abstract：:Introduction: Human prion diseases are a heterogeneous group of incurable and debilitating conditions characterized by a progressive degeneration of the central nervous system. The conformational changes of the cellular prion protein and its formation into an abnormal isoform, spongiform degeneration, neuronal loss, a...

journal_title：Expert review of molecular diagnostics

authors： Thüne K,Schmitz M,Villar-Piqué A,Altmeppen HC,Schlomm M,Zafar S,Glatzel M,Llorens F,Zerr I

更新日期：2019-11-01 00:00:00

abstract：:Introduction: The use of liquid biopsy on the blood from solid malignancies provides a convenient way of detecting actionable mutations, monitoring treatment response, detecting early recurrence and prognosticating outcomes. The aim of this review is to discuss the current status and future direction of serum biomarke...

journal_title：Expert review of molecular diagnostics

authors： Kouba E,Lopez-Beltran A,Montironi R,Massari F,Huang K,Santoni M,Chovanec M,Cheng M,Scarpelli M,Zhang J,Cimadamore A,Cheng L

更新日期：2020-02-01 00:00:00

abstract：INTRODUCTION:Minimally invasive methods will augment the clinical approach for establishing the diagnosis or monitoring treatment response of central nervous system tumors. Liquid biopsy by blood or cerebrospinal fluid sampling holds promise in this regard. Areas covered: In this literature review, the authors highligh...

journal_title：Expert review of molecular diagnostics

authors： Shankar GM,Balaj L,Stott SL,Nahed B,Carter BS

更新日期：2017-10-01 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：:It is becoming increasingly clear that the herpes simplex viruses (HSVs) 1 and 2 constitute a major, global, public health problem, particularly as genital herpes is implicated in the causation of a significant percentage of onwards transmission of the HIV virus. A major factor in the transmission of HSV is that most ...

journal_title：Expert review of molecular diagnostics

authors： Ryan C,Kinghorn G

更新日期：2006-09-01 00:00:00

abstract：:Interview with Professor Manuel Salto-Tellez by Claire Raison, Commissioning Editor Professor Manuel Salto-Tellez of Queen's University, Belfast, Northern Ireland is an expert histopathologist and molecular diagnostician. Professor Salto-Tellez is a lead investigator at the Northern Ireland Molecular Pathology Laborat...

journal_title：Expert review of molecular diagnostics

authors： Salto-Tellez M,Raison C

更新日期：2015-05-01 00:00:00

abstract：INTRODUCTION:The role of copy number variants (CNVs) in disease is now well established. In parallel NGS technologies, such as long-read technologies, there is continual development and data analysis methods continue to be refined. Clinical exome sequencing data is now a reality for many diagnostic laboratories in both...

journal_title：Expert review of molecular diagnostics

authors： Hehir-Kwa JY,Tops BBJ,Kemmeren P

更新日期：2018-10-01 00:00:00

abstract：:The emergence of drug resistance remains one of the most challenging issues in the treatment of HIV-1 infection. The extreme replication dynamics of HIV facilitates its escape from the selective pressure exerted by the human immune system and by the applied combination drug therapy. This article reviews computational ...

journal_title：Expert review of molecular diagnostics

authors： Cordes F,Kaiser R,Selbig J

更新日期：2006-03-01 00:00:00

abstract：INTRODUCTION:The antimicrobial aspect of management of patients with blood stream infections (BSI) and sepsis is time critical. In an era of increasing antimicrobial resistance, rapid detection and identification of bacteria with antimicrobial susceptibility is crucial to direct therapy early in the course of illness. ...

journal_title：Expert review of molecular diagnostics

authors： Poole S,Kidd SP,Saeed K

更新日期：2018-06-01 00:00:00

abstract：:Developing more precise diagnostics approaches to predict cancer progression and prognosis is the key to precision medicine. Overwhelming evidence now suggests that small non-coding RNAs such as miRNAs can be useful tools as biomarkers for molecular diagnostics. miRNAs can serve as biomarkers in a variety of diseases,...

journal_title：Expert review of molecular diagnostics

authors： Mishra PJ

更新日期：2014-11-01 00:00:00

abstract：:Lipoprotein-associated phospholipase (Lp-PL)A2 is a recently described and potentially useful plasma biomarker associated with cardiovascular disease. The enzyme, originally named platelet-activating factor acetylhydrolase (PAF-AH), has two prominent biological activities. First, it inactivates the prominent proinflam...

journal_title：Expert review of molecular diagnostics

authors： Carlquist JF,Muhlestein JB,Anderson JL

更新日期：2007-09-01 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: 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：:Introduction: The last decade has seen massive efforts towards the identification and the potential use of predictive biomarkers for the pregnancy pathology preeclampsia. The angiogenic factors sFlt-1 and placental growth factor (PGF) have been in focus and have been massively supported. Areas covered: This review des...

journal_title：Expert review of molecular diagnostics

authors： Huppertz B

更新日期：2018-12-01 00:00:00

abstract：INTRODUCTION:Fine needle aspiration (FNA) with cytologic examination remains the standard of care for investigation of thyroid nodules. However, as many as 30% of FNA samples are cytologically indeterminate for malignancy, which confounds clinical management. To reduce the burden of repeat diagnostic testing and unnece...

journal_title：Expert review of molecular diagnostics

authors： Moore MD,Panjwani S,Gray KD,Finnerty BM,Zarnegar R,Fahey TJ 3rd

更新日期：2017-06-01 00:00:00

abstract：:Renal cell carcinoma is one of the common malignancies of the genitourinary tract. In approximately one third of patients, distant metastases are present at the time of initial diagnosis and in another third, the tumor will recur even after nephrectomy with a curative intent. Renal cell carcinoma is resistant to all c...

journal_title：Expert review of molecular diagnostics

authors： Mohammed A,Shergill I,Little B

更新日期：2009-01-01 00:00:00

abstract：INTRODUCTION:Despite advances in surgery and chemotherapy for ovarian cancer, 70% of women still succumb to the disease. Biomarkers have contributed to the management of ovarian cancer by monitoring response to treatment, detecting recurrence, distinguishing benign from malignant pelvic masses and attempting to detect ...

journal_title：Expert review of molecular diagnostics

authors： Yang WL,Lu Z,Bast RC Jr

更新日期：2017-06-01 00:00:00

abstract：INTRODUCTION:Nanoparticle-based disease diagnostics harness a range of unique physical and chemical phenomena for the detection of biomarkers at exceedingly low levels. This capability potentially enables the diagnosis of disease earlier in its progression and improves the likelihood of positive treatment outcomes. Thi...

journal_title：Expert review of molecular diagnostics

authors： Laurentius LB,Owens NA,Park J,Crawford AC,Porter MD

更新日期：2016-08-01 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：:Parkinson's disease (PD) is a common, heterogeneous syndrome diagnosed clinically by the presence of classical neurological symptoms and the absence of 'red flags' that suggest alternative secondary parkinsonian disorders. Neuropathologically, nigrostriatal loss and the presence of proteinaceous inclusions (Lewy bodie...

journal_title：Expert review of molecular diagnostics

authors： Mellick GD,Silburn PA,Sutherland GT,Siebert GA

更新日期：2010-11-01 00:00:00

abstract：:This review focuses on the fluorescent protein microarrays applied to neurodegenerative disorders, a major health problem in our aging society. Biomarker discovery studies and work on new diagnostic tests are both included. Three platforms are described: antibody planar microarrays, comprising an array of well-defined...

journal_title：Expert review of molecular diagnostics

authors： Cretich M,Sola L,Gagni P,Chiari M

更新日期：2013-11-01 00:00:00

abstract：:Rheumatoid arthritis (RA) is a systemic, chronic and inflammatory disease of unknown etiology. HLA-DRB1 and PTPN22 1858T gene variants are risk factors of RA, clinical manifestations and rate of progression of joint destruction in this autoimmune disease. Currently, several immunopathogenetic models of other genes (CT...

journal_title：Expert review of molecular diagnostics

authors： Nagy ZB,Csanád M,Tóth K,Börzsönyi B,Demendi C,Rigó J Jr,Joó JG

更新日期：2010-07-01 00:00:00

abstract：:Signal-encoded microparticles and nanoparticles have been used to label many reactions simultaneously for target identification in assays, and thus are an indispensable part of multiplex technologies. With the increasing demand for multiplexed molecular detection, encoded particles have evolved from pattern encoding t...

journal_title：Expert review of molecular diagnostics

authors： Li Y,Luo D

更新日期：2006-07-01 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：:For most diseases, better biomarkers are urgently needed to enable (early) detection, diagnosis, prognosis, stratification for therapy and response monitoring. Proteomics delineates gene products that carry out the majority of cellular functions, and thereby may not only yield insight into altered signaling pathways i...

journal_title：Expert review of molecular diagnostics

authors： Pham TV,Piersma SR,Oudgenoeg G,Jimenez CR

更新日期：2012-05-01 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