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Specialty: Genetics & Stem Cells
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Total 47651 results found since Jan 2013.
Centromere: A Trojan horse for genome stability
DNA Repair (Amst). 2023 Sep 7;130:103569. doi: 10.1016/j.dnarep.2023.103569. Online ahead of print.ABSTRACTCentromeres play a key role in the maintenance of genome stability to prevent carcinogenesis and diseases. They are specialized chromosome loci essential to ensure faithful transmission of genomic information across cell generations by mediating the interaction with spindle microtubules. Nonetheless, while fulfilling these essential roles, their distinct repetitive composition and susceptibility to mechanical stresses during cell division render them susceptible to breakage events. In this review, we delve into the pr...
Source: DNA Repair - September 14, 2023 Category: Genetics & Stem Cells Authors: Andrea Scelfo Daniele Fachinetti Source Type: research
High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "R éunion Paradox"
Eur J Med Genet. 2023 Sep 12:104842. doi: 10.1016/j.ejmg.2023.104842. Online ahead of print.ABSTRACTLamellar ichthyosis (LI) is an autosomal recessive congenital ichthyosis characterized by generalized dry skin and severe scaling. It is caused by biallelic mutations in the TGM1 gene, however molecular data from non-Caucasian populations are limited. Results of genetic-molecular analysis of a group of LI pedigrees originating from two close small populations from south Mexico are presented. LI affected individuals belonging to 9 apparently unrelated families were studied. Exome sequencing or Sanger sequencing in probands fr...
Source: European Journal of Medical Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: O F Chacon-Camacho M C Astiazar án G Vera-Duarte H Guti érrez-Múgica N Macriz-Romero E O Graue-Hernandez J C Zenteno Source Type: research
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis
CONCLUSION: In this study three out of nine VUS could be re-classified as likely pathogenic after clinical follow-up. In order to protect pregnant couples from the burden of uncertain results, the genetic professionals have to take the responsibility to limit the reporting of VUS. This can be done not only by automated filtering of data, by following professional guidelines and by building standardized decision flows, but also by discussing individual cases considering personal situations and the involved disease and by sharing professional experience and responsibility in a multidisciplinary prenatal team setting.PMID:377...
Source: European Journal of Medical Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: Karin E M Diderich Jasmijn E Klapwijk Vyne van der Schoot Myrthe van den Born Martina Wilke Marieke Joosten Kyra E Stuurman Lies H Hoefsloot Diane Van Opstal Hennie T Br üggenwirth Malgorzata I Srebniak Source Type: research
Analysis of polygenic selection in purebred and crossbred pig genomes using generation proxy selection mapping
CONCLUSIONS: This work confirms the efficacy and the negligible error rates of the GPSM method in detecting selected loci in commercial pig populations. Our results suggest shared selection objectives and genetic architectures across swine populations. The identified polygenic selection highlights loci that are important to swine production.PMID:37710159 | DOI:10.1186/s12711-023-00836-9
Source: Genet Sel Evol - September 14, 2023 Category: Genetics & Stem Cells Authors: Caleb J Grohmann Caleb M Shull Tamar E Crum Clint Schwab Timothy J Safranski Jared E Decker Source Type: research
Induced Pluripotent Stem Cells in Disease Biology and the Evidence for Their In Vitro Utility
Annu Rev Genet. 2023 Sep 14. doi: 10.1146/annurev-genet-022123-090319. Online ahead of print.ABSTRACTMany human phenotypes are impossible to recapitulate in model organisms or immortalized human cell lines. Induced pluripotent stem cells (iPSCs) offer a way to study disease mechanisms in a variety of differentiated cell types while circumventing ethical and practical issues associated with finite tissue sources and postmortem states. Here, we discuss the broad utility of iPSCs in genetic medicine and describe how they are being used to study musculoskeletal, pulmonary, neurologic, and cardiac phenotypes. We summarize the p...
Source: Annual Review of Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: Ayodeji Adegunsoye Natalia M Gonzales Yoav Gilad Source Type: research
Interplay Between Antimicrobial Resistance and Global Environmental Change
Annu Rev Genet. 2023 Sep 14. doi: 10.1146/annurev-genet-022123-113904. Online ahead of print.ABSTRACTAntibiotic resistance genes predate the therapeutic uses of antibiotics. However, the current antimicrobial resistance crisis stems from our extensive use of antibiotics and the generation of environmental stressors that impose new selective pressure on microbes and drive the evolution of resistant pathogens that now threaten human health. Similar to climate change, this global threat results from human activities that change habitats and natural microbiomes, which in turn interact with human-associated ecosystems and lead ...
Source: Annual Review of Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: Mar ía Mercedes Zambrano Source Type: research
Methylation of hypoxia-inducible factor 3 subunit alpha contributes to poor prognosis in lung adenocarcinoma
J Appl Genet. 2023 Sep 14. doi: 10.1007/s13353-023-00784-6. Online ahead of print.ABSTRACTHypoxia-inducible factor 3 subunit alpha (HIF3A) has been implicated in various types of cancers, while its precise role in the lung adenocarcinoma remains unclear. Our study aimed to investigate the roles of HIF3A in lung adenocarcinoma and its regulation by DNA methylation. We utilized bioinformatic tools, including UALCAN and KMPlot, to analyze the relationship between HIF3A expression, DNA methylation, and patient survival rate in lung adenocarcinoma. We also used siRNA-mediated knockdown of HIF3A and DNA-methyltransferase 1 (DNMT...
Source: J Appl Genet - September 14, 2023 Category: Genetics & Stem Cells Authors: Qin Shi Xiuxia Zheng Ying Hu Zhan Zhou Minshan Fang Xinhui Huang Source Type: research
Genome-wide association study identifies variants associated with semen volume in white-feathered broilers
Anim Genet. 2023 Sep 13. doi: 10.1111/age.13358. Online ahead of print.ABSTRACTSemen is a measure of the reproductive efficiency of roosters, which affects the economic benefits of white-feathered broilers. Over the years, research in this field has mainly focused on hens, while there have been fewer studies on the reproductive traits of roosters. To identify the genes related to the semen traits of roosters, we used a chicken 55 K SNP chip to genetically type the white-feathered population (220) and performed imputation with resequencing data from 97 roosters. In total, 1 048 576 SNPs were obtained and used for genome-wid...
Source: Animal Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: G M Zhang P H Liu L Chen J M Zheng G P Zhao W H Xing J Wen Q H Li Source Type: research
Searching for new signals for susceptibility to umbilical hernia through genome-wide association analysis in three pig breeds
Anim Genet. 2023 Sep 13. doi: 10.1111/age.13347. Online ahead of print.ABSTRACTUmbilical hernia (UH) is a prevalent congenital disorder in pigs, resulting in considerable economic losses and severe animal welfare issues. In the present study, we conducted a genome-wide association study (GWAS) using the GeneSeek 50K Chip in 2777 pigs (Duroc, n = 1267; Landrace, n = 696; and Yorkshire, n = 814) to explore the candidate genes underlying the risk of umbilical hernia in pigs. After quality control analyses, 2748 animals and 48 524 single nucleotide polymorphisms (SNPs) were retained for subsequent GWAS analysis using the FarmC...
Source: Animal Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: Hui Yang Lei Wang Lilin Yin Zhenshuang Tang Zhangxu Wang Xiangdong Liu Tao Xiang Mei Yu Xiaolei Liu Changchun Li Source Type: research
Genomic evidence of sex chromosome aneuploidy and infection-associated genotypes in the tsetse fly Glossina fuscipes, the major vector of African trypanosomiasis in Uganda
Infect Genet Evol. 2023 Sep 12:105501. doi: 10.1016/j.meegid.2023.105501. Online ahead of print.ABSTRACTThe primary vector of the trypanosome parasite causing human and animal African trypanosomiasis in Uganda is the riverine tsetse fly Glossina fuscipes fuscipes (Gff). Our study improved the Gff genome assembly with whole genome 10× Chromium sequencing of a lab reared pupae, identified autosomal versus sex-chromosomal regions of the genome with ddRAD-seq data from 627 field caught Gff, and identified SNPs associated with trypanosome infection with genome-wide association (GWA) analysis in a subset of 351 flies. Results f...
Source: Infection, Genetics and Evolution - September 14, 2023 Category: Genetics & Stem Cells Authors: Norah P Saarman Jae Hak Son Hongyu Zhao Luciano V Cosme Yong Kong Mo Li Shiyu Wang Brian L Weiss Richard Echodu Robert Opiro Serap Aksoy Adalgisa Caccone Source Type: research
C. C. Li and Quasi-Random Mating
Twin Res Hum Genet. 2023 Sep 14:1-3. doi: 10.1017/thg.2023.37. Online ahead of print.ABSTRACTA simple model by which Hardy-Weinberg proportions are attained in a single generation while maintaining gene frequencies is stated and illustrated. The title 'Quasi-random mating' is proposed. Confusion about the Hardy-Weinberg principle can be avoided only if there is clear separation between the basic deterministic model and factors influencing a population's structure. Eighty years passed before C. C. Li coined the term 'pseudo-random mating'. The lesson taught by Li has not been taken on board.PMID:37706311 | DOI:10.1017/thg.2023.37
Source: Twin Research and Human Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: Alan E Stark Source Type: research
A 10-Year Observational Study on Twin Pregnancy: Role of Fetal Sex Pairing on Obstetric Outcome
Twin Res Hum Genet. 2023 Sep 14:1-7. doi: 10.1017/thg.2023.38. Online ahead of print.ABSTRACTFetal sex contributes to the determination of obstetric outcome, as pregnancies carrying male babies seem to have an increased risk of maternal-fetal complications. Most studies have been conducted on singleton pregnancies, whereas less evidence is available for twins. A 10-year retrospective observational study was conducted on a cohort of 1180 women with twin pregnancy delivered at a single tertiary hospital. Clinical data on maternal characteristics, and obstetric and neonatal outcomes were collected, and the analysis was perfor...
Source: Twin Research and Human Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: Silvia Vannuccini Sara Bolzonella Chiara Colucci Costanza Nicchi Noemi Strambi Mariarosaria Di Tommaso Source Type: research
Balance-Based Exercise Programs on Balance in Older Adults with Mild to Moderate Dementia: A Critically Appraised Topic
CONCLUSIONS: There is sufficient evidence to suggest that the use of physical therapy programs that include balance-based exercises, performed 1-2 times a week over the course of 12-25 weeks, improves balance in elderly adults with mild to moderate dementia.PMID:37709056 | DOI:10.1016/j.arr.2023.102073
Source: Ageing Research Reviews - September 14, 2023 Category: Genetics & Stem Cells Authors: Ella R Lenox Michael W Jones Source Type: research
Advancements in Computer-Assisted Diagnosis of Alzheimer's Disease: A Comprehensive Survey of Neuroimaging Methods and AI Techniques for Early Detection
This study lies in its comprehensive exploration of AD detection methods using a range of artificial intelligence (AI) techniques and neuroimaging modalities. By collecting and analysing 50 papers related to AD diagnosis datasets, the study provides a comprehensive understanding of the diversity of input types, subjects, and classes used in AD research. Summarizing 60 papers on methodologies gives researchers a succinct overview of various approaches that contribute to enhancing detection accuracy. From the review, data are acquired and pre-processed form multiple modalities of neuroimaging. This paper mainly focused on re...
Source: Ageing Research Reviews - September 14, 2023 Category: Genetics & Stem Cells Authors: Kogilavani Shanmugavadivel Sathishkumar V E Jaehyuk Cho Malliga Subramanian Source Type: research
Hormesis Defines The Limits Of Lifespan
Ageing Res Rev. 2023 Sep 12:102074. doi: 10.1016/j.arr.2023.102074. Online ahead of print.ABSTRACTThis commentary provides a novel synthesis of how biological systems adapt to a broad spectrum of environmental and age-related stresses that are underlying causes of numerous degenerative diseases and debilitating effects of aging. It proposes that the most fundamental, evolutionary-based integrative strategy to sustain and protect health is based on the concept of hormesis. This concept integrates anti-oxidant, anti-inflammatory and cellular repair responses at all levels of biological organization (i.e., cell, organ and org...
Source: Ageing Research Reviews - September 14, 2023 Category: Genetics & Stem Cells Authors: Edward J Calabrese Naomi Osakabe Rosanna Di Paola Rosalba Siracusa Roberta Fusco Ramona D'Amico Daniela Impellizzeri Salvatore Cuzzocrea Tilman Fritsch Ali S Abdelhameed Uwe Wenzel Claudio Franceschi V Calabrese Source Type: research
