Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.

Dysferlinopathies are a group of limb-girdle muscular dystrophies causing significant disability in the young population. There is a need for studies on large cohorts to describe the clinical, genotypic and natural history in our subcontinent. To describe and correlate the clinical, genetic profile and natural history of genetically confirmed dysferlinopathies.

MITF is a novel transcriptional regulator of the calcium sensor STIM1: Significance in physiological melanogenesis.

Stromal Interaction Molecule1 (STIM1) is an endoplasmic reticulum membrane-localized calcium (Ca) sensor that plays a critical role in the store-operated Ca entry (SOCE) pathway. STIM1 regulates a variety of physiological processes and contributes to a plethora of pathophysiological conditions. Several disease states and enhanced biological phenomena are associated with increased STIM1 levels and activity.

Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy (IGIBi006-A and IGIBi008-A) carrying exonic deletions in the dystrophin gene.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder with defect in dystrophin gene that shows features of degeneration of muscle tissue at an early age. Here, we describe iPSC lines generated from LCL of two patients of Indian origin carrying 46-48 and 49-50 exons deletions in DMD. The resulting iPSC lines IGIBi006-A and IGIBi008-A showed all the characteristic features of pluripotency, differentiated into cells of three germ layers in vitro and have no major genetic alterations due to reprogramming process.

RETRACTED: hsa-miR-23a~27a~24-2 cluster members inhibit aggressiveness of breast cancer cells by commonly targeting NCOA1, NLK and RAP1B.

This article has been retracted: please see Elsevier Policy on Article Withdrawal (http://www.elsevier.com/locate/withdrawalpolicy).

Probing multifunctional azure B conjugated gold nanoparticles with serum protein binding properties for trimodal photothermal, photodynamic, and chemo therapy: Biophysical and photophysical investigations.

Multimodal or combination therapy has been considered as a powerful approach for treatment of complex diseases like cancer. The fascinating physicochemical and optoelectronic properties of gold nanoparticles make them potential candidate for cancer therapeutic and diagnostic applications. Herein, we design a multifunctional nanosystem by conjugating a photosensitizer, Azure B (AB) with citrate reduced gold nanoparticles (CI-Au NPs) through non-covalent interactions.

Comprehensive health risk assessment of microbial indoor air quality in microenvironments.

The higher airborne microbial concentration in indoor areas might be responsible for the adverse indoor air quality, which relates well with poor respiratory and general health effects in the form of Sick building syndromes. The current study aimed to isolate and characterize the seasonal (winter and spring) levels of culturable bio-aerosols from indoor air, implicating human health by using an epidemiological health survey. Microorganisms were identified by standard macro and microbiological methods, followed by biochemical testing and molecular techniques.

Mitofusin-2 Negatively Regulates Melanogenesis by Modulating Mitochondrial ROS Generation.

Inter-organellar communication is emerging as one of the most crucial regulators of cellular physiology. One of the key regulators of inter-organellar communication is Mitofusin-2 (MFN2). MFN2 is also involved in mediating mitochondrial fusion-fission dynamics.

Mechanistic Insight into Oxidative Stress-Triggered Signaling Pathways and Type 2 Diabetes.

Oxidative stress (OS) is a metabolic dysfunction mediated by the imbalance between the biochemical processes leading to elevated production of reactive oxygen species (ROS) and the antioxidant defense system of the body. It has a ubiquitous role in the development of numerous noncommunicable maladies including cardiovascular diseases, cancers, neurodegenerative diseases, aging and respiratory diseases. Diseases associated with metabolic dysfunction may be influenced by changes in the redox balance.

Orai3 Regulates Pancreatic Cancer Metastasis by Encoding a Functional Store Operated Calcium Entry Channel.

Store operated Ca entry (SOCE) mediated by Orai1/2/3 channels is a highly regulated and ubiquitous Ca influx pathway. Although the role of Orai1 channels is well studied, the significance of Orai2/3 channels is still emerging in nature. In this study, we performed extensive bioinformatic analysis of publicly available datasets and observed that Orai3 expression is inversely associated with the mean survival time of PC patients.

Protocols for Characterization of Cdk5 Kinase Activity.

Cyclin-dependent kinases (Cdks) are generally known to be involved in controlling the cell cycle, but Cdk5 is a unique member of this protein family for being most active in post-mitotic neurons. Cdk5 is developmentally important in regulating neuronal migration, neurite outgrowth, and axon guidance. Cdk5 is enriched in synaptic membranes and is known to modulate synaptic activity.

Development of an in-situ forming, self-healing scaffold for dermal wound healing: in-vitro and in-vivo studies.

The importance of the extra-cellular matrix (ECM) for wound healing has been extensively researched. Understanding its importance, multiple ECM mimetic scaffolds have been developed. However, the majority of such scaffolds are prefabricated.

Biological contaminants in the indoor air environment and their impacts on human health.

Indoor air environment contains a complex mixture of biological contaminants such as bacteria, fungi, viruses, algae, insects, and their by-products such as endotoxins, mycotoxins, volatile organic compounds, etc. Biological contaminants have been categorized according to whether they are allergenic, infectious, capable of inducing toxic or inflammatory responses in human beings. At present, there is a lack of awareness about biological contamination in the indoor environment and their potential sources for the spreading of various infections.

Dysregulation of host cell calcium signaling during viral infections: Emerging paradigm with high clinical relevance.

Viral infections are one of the leading causes of human illness. Viruses take over host cell signaling cascades for their replication and infection. Calcium (Ca) is a versatile and ubiquitous second messenger that modulates plethora of cellular functions.

Seasonal variation and size distribution in the airborne indoor microbial concentration of residential houses in Delhi and its impact on health.

Unlabelled: Exposure of microbial agents in the air of indoor dwellings is associated with effects on respiratory and general health. The current study was conducted in the urban area of Delhi Metropolis for the seasonal quantitative assessment of viable microbial indoor air quality. Bioaerosol measurement was conducted by using Anderson six stage impactor with cut-off diameters of 7.

Ku70 modulation alleviates murine allergic asthma features and restores mitochondrial function in lungs.

The airway epithelium is continuously exposed to a variety of pollutants and allergens, thanks to both natural and manmade environmental pollution. With numerous protective mechanisms, the airway epithelium protects the lungs. DNA repair mechanism is one such protective response and its failure could lead to the accumulation of DNA mutations.

Corrigendum: Global Text Mining and Development of Pharmacogenomic Knowledge Resource for Precision Medicine.

[This corrects the article DOI: 10.3389/fphar.2019.

Molecular machinery regulating mitochondrial calcium levels: The nuts and bolts of mitochondrial calcium dynamics.

Mitochondria play vital role in regulating the cellular energetics and metabolism. Further, it is a signaling hub for cell survival and apoptotic pathways. One of the key determinants that calibrate both cellular energetics and survival functions is mitochondrial calcium (Ca) dynamics.

Advances in tuberculous meningitis diagnosis.

: Tuberculous meningitis (TBM) is the most devastating form of central nervous system tuberculosis (TB) and causes high mortality worldwide. Nonspecific clinical manifestations and limited sensitivity of existing laboratory methods make the diagnosis elusive due to the paucibacillary nature of the infection. : We reviewed current literature on the adequacy and limitations of globally existing laboratory methods for diagnosing TBM.

Orai3: Oncochannel with therapeutic potential.

Ion channels in particular Calcium (Ca) channels play a critical role in physiology by regulating plethora of cellular processes ranging from cell proliferation, differentiation, transcriptional regulation and programmed cell death. One such physiologically important and highly Ca selective channel family is Orai channels consisting of three homologs Orai1, Orai2 and Orai3. Orai channels are responsible for Ca influx across the plasma membrane in response to decrease in Endoplasmic Reticulum (ER) Ca stores.

Self assembly and hydrogelation of N-terminal modified tetrapeptide for sustained release and synergistic action of antibacterial drugs against methicillin resistant S. aureus.

Self assembly is a ubiquitous process of complex bio-molecules to perform various biological functions. This bottom-up approach applies in engineering of various nanostructures in different technological and biomedical applications. Here we report design and synthesis of phenolic acid conjugated tetra peptides which self assembled in uniform nanofibrils upon dissolution in aqueous solutions at physiological pH and formed stiff and transparent hydrogel.

Telomere repeat-binding factor 2 binds extensively to extra-telomeric G-quadruplexes and regulates the epigenetic status of several gene promoters.

The role of the telomere repeat-binding factor 2 (TRF2) in telomere maintenance is well-established. However, recent findings suggest that TRF2 also functions outside telomeres, but relatively little is known about this function. Herein, using genome-wide ChIP-Seq assays of TRF2-bound chromatin from HT1080 fibrosarcoma cells, we identified thousands of TRF2-binding sites within the extra-telomeric genome.

Global Text Mining and Development of Pharmacogenomic Knowledge Resource for Precision Medicine.

Understanding patients' genomic variations and their effect in protecting or predisposing them to drug response phenotypes is important for providing personalized healthcare. Several studies have manually curated such genotype-phenotype relationships into organized databases from clinical trial data or published literature. However, there are no text mining tools available to extract high-accuracy information from such existing knowledge.

Identification of novel circadian transcripts in the zebrafish retina.

High fecundity, transparent embryos for monitoring the rapid development of organs and the availability of a well-annotated genome has made zebrafish a model organism of choice for developmental biology and neurobiology. This vertebrate model, which is also a favourite in chronobiology studies, shows striking circadian rhythmicity in behaviour. Here, we identify novel genes in the zebrafish genome that are expressed in the zebrafish retina.