Mutation analysis of androgen receptor gene: Multiple uses for a single test

Androgen receptor gene mutations are one of the leading causes of disorders of sex development (DSD) exhibited by sexual ambiguity or sex reversal. In this study, 2 families with patients whom diagnosed clinically as androgen insensitivity syndrome (AIS) were physically and genetically examined. This evaluation carried out by cytogenetic and molecular analysis including karyotype and sequencing of SRY and AR genes. In family 1, two brothers and their mother were hemizygous and heterozygous respectively for c.2522G > A variant, while one of their healthy brother was a completely normal hemizygote. Family 2 assessment demonstrated the c.639G > A (rs6152) mutation in two siblings who were reared as girls. The SRY gene was intact in all of the study's participants.     

In silico and experimental improvement of bacteriorhodopsin production in Halobacterium salinarum R1 by increasing DNA-binding affinity of Bat through Q661R/Q665R substitutions in HTH motif

Extremophiles - DNA-binding motif of bacterioopsin activator (Bat) protein is a Helix–Turn–Helix motif, which binds to bop promoter and induces bacterioopsin (Bop) expression under...     

Lactic acid production by loofah-immobilized Rhizopus oryzae through one-step fermentation process using starch substrate

Rhizopus oryzae PTCC 5263 capacity in synthesis of lactic acid (LA) from 10 g/l of soluble potato starch was determined using one-step fermentation process. Pellets were the favorable growing form of the free cells. The extent of the natural ability of the test fungus on biofilm formation on loofah sponge was examined by immobilizing R. oryzae (LIRO). The maximum LA concentration for the free cells and LIRO within 96 h was 3 and 4 g/l, respectively. In terms of specific starch utilization rate (\(q_{\text{s}}\)) and specific LA formation (\(q_{\text{p}}\)), LIRO performed more favorably compared to the free cells (\(q_{{{\text{s}}_{\text{F}} }} > q_{{{\text{s}}_{\text{LIRO}} }}\) and \(q_{{{\text{p}}_{\text{F}} }} < q_{{{\text{p}}_{\text{LIRO}} }}\)). Cell immobilization strategy was undertaken for the column reactor studies based on the statistically optimized levels of the inoculum size and temperature. Maximum production of the LA by the LIRO using an airlift reactor with net draft tube was 5 g/l obtainable within 48 h.

     

iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia

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Fine-Tuning of the Cellular Signaling Pathways by Intracellular GTP Levels

It has become increasingly evident that among purine nucleotides, guanine based nucleotides specially guanosine-5′-triphosphate (GTP) serve as an important and independent regulatory factors for development and diverse cellular functions such as differentiation, metabolism, proliferation and survival in multiple tissues. In this brief review, it has been provided selective outline related to delicate regulation of signaling pathways by guanosine based nucleotides as intracellular signaling molecules. Although the exact mode of action of theses nucleotides in many biological processes and signaling pathways is still elusive, it has become well clear that intracellular guanosine based nucleotides content rather than adenosine based nucleotides could modulate the intensity and duration of signaling which ultimately impact on cell’s fate. It opens an entirely new perspective for developing new and potential therapeutic strategies to combat diseases like cancer, hypoxia, etc.