journal
https://read.qxmd.com/read/33081918/introduction-panspermia-2020
#41
Edward J Steele
This current volume is, in many ways, a 2020 update to the important 1999-2000 compendium by Sir Fred Hoyle and Professor N. Chandra Wickramasinghe's "Astronomical Origins of life: Steps towards Panspermia." The emerging new paradigm of biology that connects life on Earth with the wider cosmos is covered in considerable depth showing that terrestrial biological evolution is best understood as a cosmically derived habitat and an interconnected genetic system. The various chapters here discuss all aspects of this interconnectedness, particularly relevant now in this time of the coronavirus pandemic (COVID-19) as the human race reacts to the many microbes and viral pathogens that arrive regularly from space...
2020: Advances in Genetics
https://read.qxmd.com/read/32560792/preface
#42
EDITORIAL
Dhavendra Kumar
No abstract text is available yet for this article.
2020: Advances in Genetics
https://read.qxmd.com/read/32560791/fmrp-ribonucleoprotein-complexes-and-rna-homeostasis
#43
JOURNAL ARTICLE
Gabriela Aparecida Marcondes Suardi, Luciana Amaral Haddad
The Fragile Mental Retardation 1 gene (FMR1), at Xq27.3, encodes the fragile mental retardation protein (FMRP), and displays in its 5'-untranslated region a series of polymorphic CGG triplet repeats that may undergo dynamic mutation. Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability among men, and is most frequently due to FMR1 full mutation and consequent transcription repression. FMR1 premutations may associate with at least two other clinical conditions, named fragile X-associated primary ovarian insufficiency (FXPOI) and tremor and ataxia syndrome (FXTAS)...
2020: Advances in Genetics
https://read.qxmd.com/read/32560790/role-of-rna-interacting-proteins-in-modulating-plant-microbe-interactions
#44
JOURNAL ARTICLE
Saurabh Pandey, Namisha Sharma, Manoj Prasad
Successful infection of a pathogen in its host plant depends on the complex molecular interplay between host and the invading microbe. Plant-microbe interactions are primarily governed by signal interchange amid both the organisms. Effective passage of the pathogen into the plant system requires the circumvention of signal detection mechanisms and subsequent immune responses. As a mechanism to counteract defense response, pathogens deploy several RNA-interacting proteins (RIPs) or RNA molecules which interrupt the host transcriptional as well as signaling pathways, leading to successful infection and symptom development...
2020: Advances in Genetics
https://read.qxmd.com/read/32560789/application-of-yeast-to-studying-amyloid-and-prion-diseases
#45
JOURNAL ARTICLE
Yury O Chernoff, Anastasia V Grizel, Aleksandr A Rubel, Andrew A Zelinsky, Pavithra Chandramowlishwaran, Tatiana A Chernova
Amyloids are fibrous cross-β protein aggregates that are capable of proliferation via nucleated polymerization. Amyloid conformation likely represents an ancient protein fold and is linked to various biological or pathological manifestations. Self-perpetuating amyloid-based protein conformers provide a molecular basis for transmissible (infectious or heritable) protein isoforms, termed prions. Amyloids and prions, as well as other types of misfolded aggregated proteins are associated with a variety of devastating mammalian and human diseases, such as Alzheimer's, Parkinson's and Huntington's diseases, transmissible spongiform encephalopathies (TSEs), amyotrophic lateral sclerosis (ALS) and transthyretinopathies...
2020: Advances in Genetics
https://read.qxmd.com/read/32560788/antibiotic-drug-discovery-challenges-and-perspectives-in-the-light-of-emerging-antibiotic-resistance
#46
JOURNAL ARTICLE
Keshab Bhattarai, Rina Bastola, Bikash Baral
Amid a rising threat of antimicrobial resistance in a global scenario, our huge investments and high-throughput technologies injected for rejuvenating the key therapeutic scaffolds to suppress these rising superbugs has been diminishing severely. This has grasped world-wide attention, with increased consideration being given to the discovery of new chemical entities. Research has now proven that the relatively tiny and simpler microbes possess enhanced capability of generating novel and diverse chemical constituents with huge therapeutic leads...
2020: Advances in Genetics
https://read.qxmd.com/read/32560787/recent-advances-in-oomycete-genomics
#47
JOURNAL ARTICLE
Jamie McGowan, David A Fitzpatrick
The oomycetes are a class of ubiquitous, filamentous microorganisms that include some of the biggest threats to global food security and natural ecosystems. Within the oomycete class are highly diverse species that infect a broad range of animals and plants. Some of the most destructive plant pathogens are oomycetes, such as Phytophthora infestans, the agent of potato late blight and the cause of the Irish famine. Recent years have seen a dramatic increase in the number of sequenced oomycete genomes. Here we review the latest developments in oomycete genomics and some of the important insights that have been gained...
2020: Advances in Genetics
https://read.qxmd.com/read/32560786/-electrifying-dysmorphology-potassium-channelopathies-causing-dysmorphic-syndromes
#48
REVIEW
Mark James Hamilton, Mohnish Suri
Potassium channels are a heterogeneous group of membrane-bound proteins, whose functions support a diverse range of biological processes. Genetic disorders arising from mutations in potassium channels are classically recognized by symptoms arising from acute channel dysfunction, such as periodic paralysis, ataxia, seizures, or cardiac conduction abnormalities, often in a patient with otherwise normal examination findings. In this chapter, we review a distinct subgroup of rare potassium channelopathies whose presentations are instead suggestive of a developmental disorder, with features including intellectual disability, craniofacial dysmorphism or other physical anomalies...
2020: Advances in Genetics
https://read.qxmd.com/read/32560785/pathogen-and-host-genetics-underpinning-cryptococcal-disease
#49
REVIEW
Carolina Coelho, Rhys A Farrer
Cryptococcosis is a severe fungal disease causing 220,000 cases of cryptococcal meningitis yearly. The etiological agents of cryptococcosis are taxonomically grouped into at least two species complexes belonging to the genus Cryptococcus. All of these yeasts are environmentally ubiquitous fungi (often found in soil, leaves and decaying wood, tree hollows, and associated with bird feces especially pigeon guano). Infection in a range of animals including humans begins following inhalation of spores or aerosolized yeasts...
2020: Advances in Genetics
https://read.qxmd.com/read/31200810/preface
#50
EDITORIAL
Dhavendra Kumar
No abstract text is available yet for this article.
2019: Advances in Genetics
https://read.qxmd.com/read/31200809/association-mapping-in-plants-in-the-post-gwas-genomics-era
#51
REVIEW
Pushpendra K Gupta, Pawan L Kulwal, Vandana Jaiswal
With the availability of DNA-based molecular markers during early 1980s and that of sophisticated statistical tools in late 1980s and later, it became possible to identify genomic regions that control a quantitative trait. The two methods used for this purpose included quantitative trait loci (QTL) interval mapping and genome-wide association mapping/studies (GWAS). Both these methods have their own merits and demerits, so that newer approaches were developed in order to deal with the demerits. We have now entered a post-GWAS era, where either the original data on individual genotypes are being used again keeping in view the results of GWAS or else summary statistics obtained through GWAS is subjected to further analysis...
2019: Advances in Genetics
https://read.qxmd.com/read/31200808/genomic-technologies-for-hevea-breeding
#52
JOURNAL ARTICLE
Radhakrishnan Supriya, Padmanabhan Mallinath Priyadarshan
The commercial production of high quality natural rubber (NR) solely depends on Hevea brasiliensis Muell. Arg, (Para rubber tree) and accounts for >98% of total production worldwide. NR with its unique properties is an essential commodity for the automobile industry and its synthetic counterparts are in no way substitute to it. The rubber tree genome is very complex and plays an important role in delivering the unique properties of Hevea. But a lack of knowledge on the molecular mechanisms of rubber biosynthesis, disease resistance, etc...
2019: Advances in Genetics
https://read.qxmd.com/read/30904098/preface
#53
EDITORIAL
Dhavendra Kumar
No abstract text is available yet for this article.
2019: Advances in Genetics
https://read.qxmd.com/read/30904097/finding-a-cure-for-tuberous-sclerosis-complex-from-genetics-through-to-targeted-drug-therapies
#54
REVIEW
Lauren J McEneaney, Andrew R Tee
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Phenotypically, this leads to aberrant cell growth and the formation of benign tumors called hamartomas in multiple organs. Understanding the mechanisms of pathology that are caused through the presence of disease causing mutations is a real hurdle for many rare genetic disorders; a limiting factor that restricts knowledge of the disease and any hope of a future cure. Through the discovery of the TSC1 and TSC2 genes and the signaling pathways responsible for the pathology of TSC, a new drug target called mechanistic target of rapamycin complex 1 (mTORC1) was discovered...
2019: Advances in Genetics
https://read.qxmd.com/read/30904096/understanding-human-dna-variants-affecting-pre-mrna-splicing-in-the-ngs-era
#55
REVIEW
Luiz Gustavo Dufner-Almeida, Ramon Torreglosa do Carmo, Cibele Masotti, Luciana Amaral Haddad
Pre-mRNA splicing, an essential step in eukaryotic gene expression, relies on recognition of short sequences on the primary transcript intron ends and takes place along transcription by RNA polymerase II. Exonic and intronic auxiliary elements may modify the strength of exon definition and intron recognition. Splicing DNA variants (SV) have been associated with human genetic diseases at canonical intron sites, as well as exonic substitutions putatively classified as nonsense, missense or synonymous variants...
2019: Advances in Genetics
https://read.qxmd.com/read/30904095/the-role-of-inherited-genetic-variants-in-colorectal-polyposis-syndromes
#56
REVIEW
E Short, J Sampson
Colorectal carcinoma (CRC) is the third most common cancer in men and the second most common cancer in women across the world. Most CRCs occur sporadically, but in 15-35% of cases, hereditary factors are important. Some patients with an inherited predisposition to CRC will be diagnosed with a "genetic polyposis syndrome" such as familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), polymerase proofreading associated polyposis (PPAP), NTHL1-associated polyposis, MSH3-associated polyposis or a hamartomatous polyposis syndrome...
2019: Advances in Genetics
https://read.qxmd.com/read/30904094/cdk13-related-disorder
#57
JOURNAL ARTICLE
Mark James Hamilton, Mohnish Suri
Mutations in CDK13 have recently been identified as a novel cause of syndromic intellectual disability. In this chapter, we review the 44 cases of CDK13-related disorder reported to date, highlighting key clinical pointers to this diagnosis including characteristic craniofacial features, feeding difficulties in infancy, and the presence of structural heart or brain malformations. The spectrum of reported mutations is also described, demonstrating an excess of missense mutations arising in the protein kinase domain...
2019: Advances in Genetics
https://read.qxmd.com/read/30904093/population-scale-genomics-enabling-precision-public-health
#58
JOURNAL ARTICLE
Ambily Sivadas, Vinod Scaria
The current excitement for affordable genomics technologies and national precision medicine initiatives marks a turning point in worldwide healthcare practices. The last decade of global population sequencing efforts has defined the enormous extent of genetic variation in the human population resulting in insights into differential disease burden and response to therapy within and between populations. Population-scale pharmacogenomics helps to provide insights into the choice of optimal therapies and an opportunity to estimate, predict and minimize adverse events...
2019: Advances in Genetics
https://read.qxmd.com/read/30904092/multi-omics-approaches-for-strategic-improvement-of-stress-tolerance-in-underutilized-crop-species-a-climate-change-perspective
#59
REVIEW
Mehanathan Muthamilarasan, Nagendra Kumar Singh, Manoj Prasad
For several decades, researchers are working toward improving the "major" crops for better adaptability and tolerance to environmental stresses. However, little or no research attention is given toward neglected and underutilized crop species (NUCS) which hold the potential to ensure food and nutritional security among the ever-growing global population. NUCS are predominantly climate resilient, but their yield and quality are compromised due to selective breeding. In this context, the importance of omics technologies namely genomics, transcriptomics, proteomics, phenomics and ionomics in delineating the complex molecular machinery governing growth, development and stress responses of NUCS is underlined...
2019: Advances in Genetics
https://read.qxmd.com/read/30122236/darwin-s-pangenesis-and-certain-anomalous-phenomena
#60
JOURNAL ARTICLE
Yongsheng Liu
Darwin clearly described certain anomalous phenomena, including what he referred to as "the direct action of the male element on the female form" and what we now call xenia and telegony, bud variation (mutation), reversion or atavism, and the inheritance and non-inheritance of mutilation. Some phenomena, particularly xenia, telegony and the inheritance of mutilation, were considered as doubtful phenomena by such authorities as Weismann and Morgan. Over the past 150 year, however, there has been increasing evidence for xenia, which is of great interest and importance in physiological research and plant production...
2018: Advances in Genetics
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