3,938,607 results match your criteria genetics p = 0001

FAT4 identified as a potential modifier of orofacial cleft laterality.

Genet Epidemiol 2021 Jun 15. Epub 2021 Jun 15.

Department of Human Genetics, Emory University, Atlanta, Georgia, USA.

Orofacial clefts (OFCs) are common (1 in 700 births) congenital malformations that include a cleft lip (CL) and cleft lip and palate (CLP). These OFC subtypes are also heterogeneous themselves, with the CL occurring on the left, right, or both sides of the upper lip. Unilateral CL and CLP have a 2:1 bias towards left-sided clefts, suggesting a nonrandom process. Read More

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Identifying genomic regions targeted during eggplant domestication using transcriptome data.

J Hered 2021 Jun 15. Epub 2021 Jun 15.

Biological Sciences, University of Southampton, Southampton, UK.

Identifying genes and traits that have diverged during domestication provides key information of importance for maintaining and even increasing yield and nutrients in existing crops. A 'bottom up' population genetics approach was used to identify signatures of selection across the eggplant genome, to better understand the process of domestication. RNA-seq data was obtained for four wild eggplants (Solanum insanum L. Read More

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Early lung ultrasound assessment for the prognosis of patients hospitalized for COVID-19 pneumonia. A pilot study.

Respir Med Res 2021 Jun 4;80:100832. Epub 2021 Jun 4.

Department of Respiratory Diseases, University Hospitals KU Leuven, Herestraat 49, 3000 Leuven, Belgium.

Objective: SARS CoV-2 is an epidemic viral infection that can cause mild to severe lung involvement. Newly apprehended knowledge on thoracic imaging abnormalities and the growing clinical experience on the evolution of this disease make the radiographic follow-up of hospitalized patients relevant. The value of consecutive bedside lung ultrasonography in the follow-up of hospitalized patients with SARS CoV-2 pneumonia and its correlation with other clinical and laboratory markers needs to be evaluated. Read More

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A rise in Proteobacteria is an indicator of gut-liver axis-mediated nonalcoholic fatty liver disease in high-fructose-fed adult mice.

Nutr Res 2021 May 21;91:26-35. Epub 2021 May 21.

Laboratory of Morphometry, Metabolism, and Cardiovascular Diseases, Biomedical Center, Institute of Biology, Rio de Janeiro State University, Rio de Janeiro, Brazil. Electronic address:

Current evidence suggests that high fructose intake results in gut dysbiosis, leading to endotoxemia and NAFLD onset. Thus, the hypothesis of the study was that an enhanced Proteobacteria proportion in the cecal microbiota could be the most prominent trigger of NAFLD through enhanced endotoxin (LPS) in adult high-fructose-fed C57BL/6 mice. Male C57BL/6 mice received a control diet (n = 10, C: 76% of energy as carbohydrates, 0% as fructose) or high-fructose diet (n = 10, HFRU: 76% of energy as carbohydrate, 50% as fructose) for 12 weeks. Read More

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Generation of an induced pluripotent stem cell line (UNCCi002-A) from a healthy donor using a non-integration system to study Cerebral Cavernous Malformation (CCM).

Stem Cell Res 2021 Jun 9;54:102421. Epub 2021 Jun 9.

Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States; Department of Genetics at the University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States. Electronic address:

The generation of induced pluripotent stem cells (iPSCs) from healthy individuals is an invaluable resource as reference control in disease modeling and drug discovery. This paper details the reprogramming of peripheral blood mononuclear cells (PBMCs) isolated from a healthy 27 years-old male using non-integration technology. The derived iPSCs displayed typical pluripotent stem cell morphology, the capacity to differentiate into the three germ layers, and normal karyotype. Read More

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Generation and characterization of the human induced pluripotent stem cell (hiPSC) line NCUFi001-A from a patient carrying KCNQ1 G314S mutation.

Stem Cell Res 2021 Jun 5;54:102418. Epub 2021 Jun 5.

Laboratory of Biomedical Research, Niccolò Cusano University Foundation, Via Don Carlo Gnocchi 3, 00166 Rome, Italy; Medical Genetics Unit, Tor Vergata University Hospital, PTV, Viale Montpellier 1, 00133 Rome, Italy.

In this study we describe the generation and characterization of an human induced pluripotent stem cell (hiPSC) line from a long QT syndrome type 1 (LQT1) patient carrying the KCNQ1 c.940 G > A (p.Gly314Ser) mutation. Read More

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An update on cell division of Giardia duodenalis trophozoites.

Microbiol Res 2021 Jun 10;250:126807. Epub 2021 Jun 10.

Department of Genetics and Molecular Biology, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV), Mexico City, Mexico. Electronic address:

Giardia duodenalis is a flagellated protozoan that is responsible for many cases of diarrheal disease worldwide and is characterized by its great divergence from the model organisms commonly used in studies of basic cellular processes. The life cycle of Giardia involves an infectious cyst form and a proliferative and mobile trophozoite form. Each Giardia trophozoite has two nuclei and a complex microtubule cytoskeleton that consists of eight flagellar axonemes, basal bodies, the adhesive disc, the funis and the median body. Read More

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Evaluating DNA evidence possibly involving multiple (mixed) samples, common donors and related contributors.

Forensic Sci Int Genet 2021 May 15;54:102532. Epub 2021 May 15.

Institute of Environmental Science and Research Limited, Private Bag 92021, Auckland 1142, New Zealand.

Forensic DNA profiling is used in various circumstances to evaluate support for two competing propositions with the assignment of a likelihood ratio. Many software implementations exist that tackle a range of inference problems spanning identification and relationship testing. We propose a flexible likelihood ratio framework that caters to inference problems in forensic genetics. Read More

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Combining gene expression signature with clinical features for survival stratification of gastric cancer.

Genomics 2021 Jun 12;113(4):2683-2694. Epub 2021 Jun 12.

Department of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, P.R. China; Institute of Gastroenterology, Zhejiang University, Hangzhou 310016, P.R. China; Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Hangzhou, Zhejiang 310003, P.R. China; Department of Molecular Genetics, University of Toronto, Toronto, ONM5S 1A8, Canada. Electronic address:

The AJCC staging system is considered as the golden standard in clinical practice. However, it remains some pitfalls in assessing the prognosis of gastric cancer (GC) patients with similar clinicopathological characteristics. We aim to develop a new clinic and genetic risk score (CGRS) to improve the prognosis prediction of GC patients. Read More

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Trisomy 21 results in modest impacts on mitochondrial function and central carbon metabolism.

Free Radic Biol Med 2021 Jun 12;172:201-212. Epub 2021 Jun 12.

Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, USA; Linda Crnic Institute for Down Syndrome, School of Medicine, University of Colorado, Aurora, CO, USA. Electronic address:

Down syndrome (DS) is the most common genetic cause of intellectual disability. Mechanistically, oxidative stress and mitochondrial dysfunction are reported to be etiological factors for many of the DS-related comorbidities and have previously been reported in a number of in vitro and in vivo models of DS. The purpose of this study was to test for the presence of mitochondrial dysfunction in fibroblast cells obtained via skin biopsy from individuals with DS, and to assess the impact of trisomy 21 on central carbon metabolism. Read More

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The funny current in genetically modified mice.

Prog Biophys Mol Biol 2021 Jun 12. Epub 2021 Jun 12.

Institut de Génomique Fonctionnelle, Université de Montpellier, CNRS, INSERM, Montpellier, France; LabEx Ion Channels Science and Therapeutics (ICST), France. Electronic address:

Since its first description in 1979, the hyperpolarization-activated funny current (I) has been the object of intensive research aimed at understanding its role in cardiac pacemaker activity and its modulation by the sympathetic and parasympathetic branches of the autonomic nervous system. I was described in isolated tissue strips of the rabbit sinoatrial node using the double-electrode voltage-clamp technique. Since then, the rabbit has been the principal animal model for studying pacemaker activity and I for more than 20 years. Read More

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CTPS forms the cytoophidium in zebrafish.

Exp Cell Res 2021 Jun 12:112684. Epub 2021 Jun 12.

School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, United Kingdom. Electronic address:

Cytidine triphosphate synthase (CTPS) catalyzes the rate-limiting step of de novo CTP biosynthesis. An intracellular structure of CTPS, the cytoophidium, has been found in many organisms including prokaryotes and eukaryotes. Formation of the cytoophidium has been suggested to regulate the activity and stability of CTPS and may participate in certain physiological events. Read More

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Using real-word data to evaluate the effects of broadening eligibility criteria in oncology trials.

Cancer Cell 2021 Jun;39(6):750-752

Princess Margaret Cancer Centre, University Health Network, Toronto, Canada; Department of Medicine, University of Toronto, Toronto, Canada. Electronic address:

Eligibility criteria restrict patient enrollment in clinical trials. A Nature paper applied a machine-learning algorithm in a real-world database to show that relaxing some criteria may not jeopardize efficacy and safety. This may enable more patients to have earlier access to new therapies and make results more generalizable to clinical practice. Read More

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Molecular subtypes of upper tract urothelial cancer: Setting the stage for precision therapy.

Cancer Cell 2021 Jun;39(6):745-747

Upper Tract Urothelial Cancer Program, Johns Hopkins Greenberg Bladder Cancer Institute and Brady Urological Institute, Baltimore, MD.

A comprehensive genomic characterization of a large, high-quality cohort of upper tract urothelial carcinomas (UTUCs) in this issue of Cancer Cell reveals that UTUCs can be divided into five DNA-based molecular subtypes. Feasibility data establish that molecular subtyping can be performed non-invasively by sequencing tumor DNA in urine. Read More

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Eradicating micrometastases with immune checkpoint blockade: Strike while the iron is hot.

Cancer Cell 2021 Jun;39(6):738-742

Department of Surgery, Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College, New York, NY, USA.

Immune checkpoint blockade (ICB) is transforming treatment for many cancers. While ICB alone initially demonstrated efficacy in patients with metastatic melanoma, it has expanded to other types and to earlier-stage cancers. We describe ICB history, mechanisms underlying variation in response, and how ICB is being integrated into adjuvant and neoadjuvant treatment approaches. Read More

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Exome variant discrepancies due to reference genome differences.

Am J Hum Genet 2021 Jun 11. Epub 2021 Jun 11.

Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

Despite release of the GRCh38 human reference genome more than seven years ago, GRCh37 remains more widely used by most research and clinical laboratories. To date, no study has quantified the impact of utilizing different reference assemblies for the identification of variants associated with rare and common diseases from large-scale exome-sequencing data. By calling variants on both the GRCh37 and GRCh38 references, we identified single-nucleotide variants (SNVs) and insertion-deletions (indels) in 1,572 exomes from participants with Mendelian diseases and their family members. Read More

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ZNRF3 and RNF43 cooperate to safeguard metabolic liver zonation and hepatocyte proliferation.

Cell Stem Cell 2021 Jun 11. Epub 2021 Jun 11.

Novartis Institutes for BioMedical Research, Novartis Pharma AG, Basel, Switzerland. Electronic address:

AXIN2 and LGR5 mark intestinal stem cells (ISCs) that require WNT/β-Catenin signaling for constant homeostatic proliferation. In contrast, AXIN2/LGR5+ pericentral hepatocytes show low proliferation rates despite a WNT/β-Catenin activity gradient required for metabolic liver zonation. The mechanisms restricting proliferation in AXIN2+ hepatocytes and metabolic gene expression in AXIN2+ ISCs remained elusive. Read More

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Peptide nucleic acids and their role in gene regulation and editing.

Biopolymers 2021 Jun 15:e23460. Epub 2021 Jun 15.

Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, Connecticut, USA.

The unique properties of peptide nucleic acid (PNA) makes it a desirable candidate to be used in therapeutic and biotechnological interventions. It has been broadly utilized for numerous applications, with a major focus in regulation of gene expression, and more recently in gene editing. While the classic PNA design has mainly been employed to date, chemical modifications of the PNA backbone and nucleobases provide an avenue to advance the technology further. Read More

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The Serum Proteome and Ursodeoxycholic Acid Response in Primary Biliary Cholangitis.

Hepatology 2021 Jun 15. Epub 2021 Jun 15.

Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne, UK.

Background And Aims: Stratified therapy has entered clinical practice in primary biliary cholangitis (PBC), with routine use of second-line therapy in non-responders to first-line therapy with ursodeoxycholic acid (UDCA). The mechanism for non-response to UDCA remains, however, unclear and we lack mechanistic serum markers. The UK-PBC study was established to explore the biological basis of UDCA non-response in PBC and to identify markers to enhance treatment. Read More

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Bacillus velezensis strain MBY2, a potential agent for the management of crown gall disease.

PLoS One 2021 15;16(6):e0252823. Epub 2021 Jun 15.

Laboratory of Protection and Improvement of Genetic Resources of Olive, Olive Tree Institute, Tunis, Tunisia.

The reduction of the use chemical pesticides in agriculture is gaining importance as an objective of decision-makers in both politics and economics. Consequently, the development of technically efficient and economically affordable alternatives as, e.g. Read More

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Laboratory evaluation of the rapid diagnostic tests for the detection of Vibrio cholerae O1 using diarrheal samples.

PLoS Negl Trop Dis 2021 Jun 15;15(6):e0009521. Epub 2021 Jun 15.

Division of Bacteriology, ICMR-National Institute of Cholera and Enteric Diseases, Kolkata, India.

Background: Cholera, an acute diarrheal disease is a major public health problem in many developing countries. Several rapid diagnostic tests (RDT) are available for the detection of cholera, but their efficacies are not compared in an endemic setting. In this study, we have compared the specificity and sensitivity of three RDT kits for the detection of Vibrio cholerae O1 and compared their efficiency with culture and polymerase chain reaction (PCR) methods. Read More

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Identification of Resistant Germplasm and Detection of Genes for Resistance to Powdery Mildew and Leaf Rust from 2,978 Wheat Accessions.

Plant Dis 2021 Jun 15. Epub 2021 Jun 15.

Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Center for Agricultural Resources Research, 286 Huaizhong Rd., Shijiazhuang 050021, China, Shijiazhuang, China, 050021;

Powdery mildew and leaf rust, caused by Blumeria graminis f. sp. tritici (Bgt) and Puccinia triticina (Pt), respectively, are widespread diseases of wheat worldwide. Read More

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Metformin reverses the effects of high glucose on human dermal fibroblasts of aged skin via downregulating RELA/p65 expression.

J Physiol Biochem 2021 Jun 15. Epub 2021 Jun 15.

Department of Medical Biology, Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Metformin has been successfully used as an anti-aging agent but exact molecular mechanisms of metformin in anti-aging remain unknown. Hyperglycemia during skin aging not only causes oxidative damage to cellular macromolecules, like dermal collagen, but also modulates the activation of transcription factor nuclear factor kappa B (NF-kB). We aimed to investigate in vitro effects of high glucose (HG) and metformin treatment on proliferation and apoptosis of human primary dermal fibroblasts (HDFs), and the expression of COL1A1, COL3A1, and RELA/p65 genes. Read More

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Improving rice eating and cooking quality by coordinated expression of the major starch synthesis-related genes, SSII and Wx, in endosperm.

Plant Mol Biol 2021 Jun 15. Epub 2021 Jun 15.

Jiangsu Key Laboratory of Crop Genomics and Molecular Breeding, State Key Laboratory of Hybrid Rice, Key Laboratory of Plant Functional Genomics of the Ministry of Education, College of Agriculture, Yangzhou University, Yangzhou, 225009, China.

Key Message: Coordinated regulation of amylose and amylopectin synthesis via manipulation of SSII-2, SSII-3 and Wx expression in endosperm can improve rice eating and cooking quality. With increasing rice consumption worldwide, many researchers are working to increase the yield and improve grain quality, especially eating and cooking quality (ECQ). The rice ECQ is mainly controlled by the expression of starch synthesis-related genes (SSRGs) in endosperm. Read More

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LRH-1 high expression in the ovarian granulosa cells of PCOS patients.

Endocrine 2021 Jun 15. Epub 2021 Jun 15.

Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, China.

Purpose: Polycystic ovary syndrome (PCOS) is considered one of the most common endocrine disorders with heterogeneity. There are also reports that liver receptor homolog 1 [LRH-1 or nuclear receptor subfamily 5 group A member 2] plays an important role in the reproductive system. But up to now, there are no reports related to the link with PCOS and LRH-1. Read More

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Risk assessment of heavy metals in marine fish and seafood from Kedah and Selangor coastal regions of Malaysia: a high-risk health concern for consumers.

Environ Sci Pollut Res Int 2021 Jun 15. Epub 2021 Jun 15.

School of Chemical Engineering, The University of New South Wales, Sydney, Australia.

The heavy metals namely Fe, As, Cu, Cd, and Pb were investigated in two marine fishes silver pomfret (Pampus argentus) and torpedo scad (Megalaspis cordyla), and three seafoods sibogae squid (Loligo sibogae), Indian white prawn (Fenneropenaeus indicus), and mud crab (Scylla serrata) by using inductively coupled plasma spectrophotometer (ICP-MS) from two renowned fish harvesting coastal area of Malaysia named as Kedah and Selangor. Among the target heavy metals, highest mean concentration of As and Fe were found in Scylla serrata (72.14±7. Read More

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Adaptation of Drosophila subobscura chromosomal inversions to climatic variables: the Balkan natural population of Avala.

Genetica 2021 Jun 15;149(3):155-169. Epub 2021 Jun 15.

Departament de Genètica, Microbiologia i Estadística, Secció de Genètica Biomèdica, Evolutiva i Desenvolupament - IRBio (Institut de Recerca per la Biodiversitat), Universitat de Barcelona, Barcelona, Spain.

The adaptive value of chromosomal inversions continues raising relevant questions in evolutionary biology. In many species of the Drosophila genus, different inversions have been recognized to be related to thermal adaptation, but it is necessary to determine to which specific climatic variables the inversions are adaptive. With this aim, the behavior of thermal adapted inversions of Drosophila subobscura regarding climatic variables was studied in the natural population of Avala (Serbia) during the 2014-2017 period. Read More

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Mitochondrial genome variations are associated with amyotrophic lateral sclerosis in patients from mainland China.

J Neurol 2021 Jun 15. Epub 2021 Jun 15.

Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Rd, Changsha, Hunan, People's Republic of China.

Background: Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder. Mitochondrial dysfunction is involved in the complex pathophysiology of ALS; however, the role of mitochondrial DNA (mtDNA) variants in ALS is poorly understood. We aimed to elucidate the role of mtDNA variants in the pathogenesis of ALS. Read More

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Headache Related to PPE Use during the COVID-19 Pandemic.

Curr Pain Headache Rep 2021 Jun 15;25(8):53. Epub 2021 Jun 15.

Division of Neurology, National University Hospital and Yong Loo Lin School of Medicine, National University of Singapore, NUHS Tower Block, Level 10, 1E Kent Ridge Road, Singapore, 119228, Singapore.

Purpose Of Review: Personal protection equipment (PPE)-associated headache is an unusual secondary headache disorder that predominantly occurs in healthcare workers as a consequence of the donning of protective respirators, face masks and/or eyewear. The appreciation of this entity is important given the significant ramifications upon the occupational health of healthcare workers and could additionally have an impact on persons living with pre-existing headache disorder(s).

Recent Findings: There has been a renewed interest and recognition of PPE-associated headaches amongst healthcare professionals, largely brought about by the ongoing COVID-19 pandemic which has besieged healthcare systems worldwide. Read More

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Inferring Population Histories for Ancient Genomes Using Genome-Wide Genealogies.

Mol Biol Evol 2021 Jun 15. Epub 2021 Jun 15.

Department of Statistics, University of Oxford, Oxford, UK.

Ancient genomes anchor genealogies in directly observed historical genetic variation and contextualise ancestral lineages with archaeological insights into their geography and cultural associations. However, the majority of ancient genomes are of lower coverage and cannot be directly built into genealogies. Here, we present a fast and scalable method, Colate, the first approach for inferring ancestral relationships through time between low-coverage genomes without requiring phasing or imputation. Read More

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