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Specialty: Genetics & Stem Cells
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Total 47651 results found since Jan 2013.
Guidelines for Evaluating the Comparability of Down-Sampled GWAS Summary Statistics
Behav Genet. 2023 Sep 15. doi: 10.1007/s10519-023-10152-z. Online ahead of print.ABSTRACTProprietary genetic datasets are valuable for boosting the statistical power of genome-wide association studies (GWASs), but their use can restrict investigators from publicly sharing the resulting summary statistics. Although researchers can resort to sharing down-sampled versions that exclude restricted data, down-sampling reduces power and might change the genetic etiology of the phenotype being studied. These problems are further complicated when using multivariate GWAS methods, such as genomic structural equation modeling (Genomic...
Source: Behavior Genetics - September 15, 2023 Category: Genetics & Stem Cells Authors: Camille M Williams Holly Poore Peter T Tanksley Hyeokmoon Kweon Natasia S Courchesne-Krak Diego Londono-Correa Travis T Mallard Peter Barr Philipp D Koellinger Irwin D Waldman Sandra Sanchez-Roige K Paige Harden Abraham A Palmer Danielle M Dick Richard Ka Source Type: research
RNA Interference and Neuromuscular Diseases: A Focus on Hereditary Transthyretin Amyloidosis
Curr Gene Ther. 2023 Sep 13. doi: 10.2174/1566523223666230913110011. Online ahead of print.ABSTRACTNeuromuscular diseases are severe disorders affecting the peripheral nervous system, usually driving to death in a limited time. Many new drugs, through RNA-interference technology, are revolutionizing the prognosis and quality of life for these patients. Nevertheless, given the increased life expectancy, some new issues and phenotypes are expected to be revealed. In the transthyretin-mediated hereditary amyloidosis (ATTR-v, "v" for "variant"), the RNA interference was demonstrated to effectively reduce the hepatic synthesis ...
Source: Current Gene Therapy - September 15, 2023 Category: Genetics & Stem Cells Authors: Marco Ceccanti Maurizio Inghilleri Source Type: research
The conceivable role of prolactin hormone in Parkinson disease: The same goal but with different ways
Ageing Res Rev. 2023 Sep 13:102075. doi: 10.1016/j.arr.2023.102075. Online ahead of print.ABSTRACTParkinson disease (PD) is a progressive neurodegenerative disease (NDD) of the brain. It has been reported that prolactin (PRL) hormone plays a differential effect in PD, may be increasing, reduced or unaffected. PRL level is dysregulated in different neurodegenerative disorders including PD. Preclinical and clinical studies pointed out that PRL may has a neuroprotective against PD neuropathology . Though, the mechanistic role of PRL in PD is not fully elucidated. Therefore, the objective of the present review was to clarify t...
Source: Ageing Research Reviews - September 15, 2023 Category: Genetics & Stem Cells Authors: Haydar M Al-Kuraishy Majid S Jabir Ali I Al-Gareeb Ali K Albuhadily Source Type: research
The C-terminal tail of Rad17, iVERGE, binds the 9 ‒1‒1 complex independently of AAA+ ATPase domains to provide another clamploader interface
DNA Repair (Amst). 2023 Sep 6;130:103567. doi: 10.1016/j.dnarep.2023.103567. Online ahead of print.ABSTRACTThe ATR pathway plays a crucial role in maintaining genome integrity as the major DNA damage checkpoint. It also attracts attention as a therapeutic target in cancer treatment. The Rad17-RFC2-5 complex loads the Rad9-Hus1-Rad1 (9-1-1) DNA clamp complex onto damaged chromatin to activate the ATR pathway. We previously reported that phosphorylation of a polyanionic C-terminal tail of human Rad17, iVERGE, is essential for the interaction between Rad17 and the 9-1-1 complex. However, the molecular mechanism has remained u...
Source: DNA Repair - September 15, 2023 Category: Genetics & Stem Cells Authors: Yasunori Fukumoto Tyuji Hoshino Yuji Nakayama Yasumitsu Ogra Source Type: research
The conceivable role of prolactin hormone in Parkinson disease: The same goal but with different ways
Ageing Res Rev. 2023 Sep 13:102075. doi: 10.1016/j.arr.2023.102075. Online ahead of print.ABSTRACTParkinson disease (PD) is a progressive neurodegenerative disease (NDD) of the brain. It has been reported that prolactin (PRL) hormone plays a differential effect in PD, may be increasing, reduced or unaffected. PRL level is dysregulated in different neurodegenerative disorders including PD. Preclinical and clinical studies pointed out that PRL may has a neuroprotective against PD neuropathology . Though, the mechanistic role of PRL in PD is not fully elucidated. Therefore, the objective of the present review was to clarify t...
Source: Ageing Research Reviews - September 15, 2023 Category: Genetics & Stem Cells Authors: Haydar M Al-Kuraishy Majid S Jabir Ali I Al-Gareeb Ali K Albuhadily Source Type: research
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France
CONCLUSION: This collection of feedback and analysis of patients' preferences has validated the long-term implementation of medical genetics teleconsultations in certain circumstances and indications, for patients who prefer this approach.PMID:37714374 | DOI:10.1016/j.ejmg.2023.104841
Source: European Journal of Medical Genetics - September 15, 2023 Category: Genetics & Stem Cells Authors: Allan Lan çon Amandine Beaudouin Laetitia Lambert Amandine Baurand Estelle Petit Elise Schaefer C éline Poirsier Juliette Piard L éa Patay Aurore Garde Marie Bournez Geoffrey Bertolone Claire Kastner Laurine Temp é Salima El Chehadeh Marta Spodenkiewi Source Type: research
Landmarks in the history of selective sweeps
Anim Genet. 2023 Sep 14. doi: 10.1111/age.13355. Online ahead of print.ABSTRACTHalf a century ago, a seminal article on the hitchhiking effect by Smith and Haigh inaugurated the concept of the selection signature. Selective sweeps are characterised by the rapid spread of an advantageous genetic variant through a population and hence play an important role in shaping evolution and research on genetic diversity. The process by which a beneficial allele arises and becomes fixed in a population, leading to a increase in the frequency of other linked alleles, is known as genetic hitchhiking or genetic draft. Kimura's neutral th...
Source: Animal Genetics - September 15, 2023 Category: Genetics & Stem Cells Authors: Manjit Panigrahi Divya Rajawat Sonali Sonejita Nayak Kanika Ghildiyal Anurodh Sharma Karan Jain Chuzhao Lei Bharat Bhushan Bishnu Prasad Mishra Triveni Dutt Source Type: research
Unravelling of the genetic diversity, population structure, and phylogenetic relationships of the indigenous horse breeds of Pakistan
Gene. 2023 Sep 13:147736. doi: 10.1016/j.gene.2023.147736. Online ahead of print.ABSTRACTThe current study aimed to evaluate the genetic diversity, level of admixture, and phylogenetic relationship, of the Pakistani horse breeds, along with their morphological characterization. Data for the body measurements showed that Morna horses had the highest values of body height, body length, chest girth, leg length, and head length, whereas the Baluchi horses had the lowest values for these traits. For the genetic diversity 64 animals, 15/breed except for Baluchi(14) and Topras(05), were genotyped by using the 17-plex equine genot...
Source: Gene - September 15, 2023 Category: Genetics & Stem Cells Authors: Muhammad Sohail Ashraf Atia Basheer Farheena Iqbal Imran Zahoor Source Type: research
Genetic variants of Metabolism and Inflammatory pathways, and PCOS risk -Systematic review, Meta-analysis, and In-silico analysis
CONCLUSION: and relevance: The study suggests the role of various genetic variants for genetic predisposition to PCOS among different subpopulations.PMID:37714276 | DOI:10.1016/j.gene.2023.147796
Source: Gene - September 15, 2023 Category: Genetics & Stem Cells Authors: Priya Sharma Kabir Bhatia Harmanpreet Singh Kapoor Balpreet Kaur Preeti Khetarpal Source Type: research
Tyrosine glucosylation of collagen films exploiting Horseradish Peroxidase (HRP)
Carbohydr Res. 2023 Sep 9;533:108938. doi: 10.1016/j.carres.2023.108938. Online ahead of print.ABSTRACTThe development of human tissue models for regenerative medicine and animal-free drug screening requires glycosylated biomaterials such as collagen. An easy and fast biomaterial glycosylation method exploiting Horseradish Peroxidase (HRP) phenol coupling reaction is proposed. The protocol is adaptable to any polymer functionalized with phenol residues or tyrosine containing proteins. As a model the tyrosine residues on collagen films were functionalized with salidroside, a natural β-glucoside with a phenol in the aglycon...
Source: Carbohydrate Research - September 15, 2023 Category: Genetics & Stem Cells Authors: Francesca Cadamuro Matteo Ferrario Raziyeh Akbari Carlo Antonini Francesco Nicotra Laura Russo Source Type: research
The African Society of Human Genetics successfully launches global data science workshops
We describe the first African genomics data science workshop, implemented by the African Society of Human Genetics (AfSHG) and international partners, providing a framework for future workshops.PMID:37714735 | DOI:10.1016/j.tig.2023.06.004
Source: Trends in Genetics : TIG - September 15, 2023 Category: Genetics & Stem Cells Authors: Victoria Nembaware Declan Bennett Emile R Chimusa Tinashe Chikowore Richard Daodu Valential Ngo Bitoungui Scott M Williams Segun Fatumo Sandra Healy Cathal Seoighe Ambroise Wonkam African Society of Human Genetics Source Type: research
Whole-genome doubling in tissues and tumors
Trends Genet. 2023 Sep 13:S0168-9525(23)00187-7. doi: 10.1016/j.tig.2023.08.004. Online ahead of print.ABSTRACTThe overwhelming majority of proliferating somatic human cells are diploid, and this genomic state is typically maintained across successive cell divisions. However, failures in cell division can induce a whole-genome doubling (WGD) event, in which diploid cells transition to a tetraploid state. While some WGDs are developmentally programmed to produce nonproliferative tetraploid cells with specific cellular functions, unscheduled WGDs can be catastrophic: erroneously arising tetraploid cells are ill-equipped to c...
Source: Trends in Genetics : TIG - September 15, 2023 Category: Genetics & Stem Cells Authors: Marc A Vittoria Ryan J Quinton Neil J Ganem Source Type: research
The evolution of aging and lifespan
Trends Genet. 2023 Sep 14:S0168-9525(23)00186-5. doi: 10.1016/j.tig.2023.08.005. Online ahead of print.ABSTRACTAging is a nearly inescapable trait among organisms yet lifespan varies tremendously across different species and spans several orders of magnitude in vertebrates alone. This vast phenotypic diversity is driven by distinct evolutionary trajectories and tradeoffs that are reflected in patterns of diversification and constraint in organismal genomes. Age-specific impacts of selection also shape allele frequencies in populations, thus impacting disease susceptibility and environment-specific mortality risk. Further, ...
Source: Trends in Genetics : TIG - September 15, 2023 Category: Genetics & Stem Cells Authors: Stacy Li Juan Manuel Vazquez Peter H Sudmant Source Type: research
Transcriptome analysis revealed the existence of family-specific regulation of growth traits in grass carp
Genomics. 2023 Sep 13:110706. doi: 10.1016/j.ygeno.2023.110706. Online ahead of print.ABSTRACTThe grass carp (Ctenopharyngodon idella) is the world's most prolific freshwater fish. Little is known, however, about the functional genes and genetic regulatory networks that govern its growth traits. We created three grass carp families in this study by using two grass carp parents with fast-growing offspring and two grass carp parents with slow-growing offspring, namely the fast-growing × fast-growing family (FF), the slow-growing × slow-growing family (SS), and the fast-growing × slow-growing family (FS). Under the satiati...
Source: Genomics - September 15, 2023 Category: Genetics & Stem Cells Authors: Weidong Ye Mijuan Shi Sijia Chen You Duan Yanxin Jiang Yingyin Cheng Wanting Zhang Jiujiu Chen Yaping Wang Xiao-Qin Xia Source Type: research
