51,602 results match your criteria specific deletion


Pericyte-specific deletion of Ninjurin-1 induces fragile vasa vasorum formation and enhances intimal hyperplasia of injured vasculature.

Am J Physiol Heart Circ Physiol 2021 May 7. Epub 2021 May 7.

Department of Biochemistry, Division of Integrated Life Science; Department of Cardiovascular Regeneration and Innovation, Asahikawa Medical University, Asahikawa, 2-1-1 Midorigaoka-higashi, Asahikawa 078-8510, Japangrid.252427.4.

Adventitial abnormalities including enhanced vasa vasorum malformation are associated with development and vulnerability of atherosclerotic plaque. However, the mechanisms of vasa vasorum malformation and its role in vascular remodeling have not been fully clarified. We recently reported that Ninjurin-1 (Ninj1) is a crucial adhesion molecule for pericytes to form matured neovessels. Read More

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Progression of behavioral deficits during periadolescent development differs in female and male DISC1 knockout rats.

Genes Brain Behav 2021 May 7:e12741. Epub 2021 May 7.

Department of Psychology, Colby College, Waterville, Maine, USA.

Mutations in the disrupted in schizophrenia-1 (DISC1) gene are associated with an increased risk of developing psychological disorders including schizophrenia, bipolar disorder, and depression. Assessing the impact of knocking out genes, like DISC1, in animal models provides valuable insights into the relationship between the gene and behavioral outcomes. Previous research has relied on mouse models to assess these impacts, however these may not yield as reliable or rich a behavioral analysis as can be obtained using rats. Read More

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Altered theta and beta oscillatory synchrony in a genetic mouse model of pathological anxiety.

FASEB J 2021 Jun;35(6):e21585

Department of Molecular Neurobiology, Max Planck Institute of Experimental Medicine, Göttingen, Germany.

While the neural circuits mediating normal, adaptive defensive behaviors have been extensively studied, substantially less is currently known about the network mechanisms by which aberrant, pathological anxiety is encoded in the brain. Here we investigate in mice how deletion of Neuroligin-2 (Nlgn2), an inhibitory synapse-specific adhesion protein that has been associated with pathological anxiety and other psychiatric disorders, alters the communication between key brain regions involved in mediating defensive behaviors. To this end, we performed multi-site simultaneous local field potential (LFP) recordings from the basolateral amygdala (BLA), centromedial amygdala (CeM), bed nucleus of the stria terminalis (BNST), prefrontal cortex (mPFC) and ventral hippocampus (vHPC) in an open field paradigm. Read More

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Preservation of endoplasmic reticulum (ER) Ca stores by deletion of inositol-1,4,5-trisphosphate receptor type 1 promotes ER retrotranslocation, proteostasis, and protein outer segment localization in cyclic nucleotide-gated channel-deficient cone photoreceptors.

FASEB J 2021 Jun;35(6):e21579

Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

Endoplasmic reticulum (ER) Ca homeostasis relies on an appropriate balance between efflux- and influx-channel activity responding to dynamic changes of intracellular Ca levels. Dysregulation of this complex signaling network has been shown to contribute to neuronal and photoreceptor death in neuro- and retinal degenerative diseases, respectively. In mice with cone cyclic nucleotide-gated (CNG) channel deficiency, a model of achromatopsia/cone dystrophy, cones display early-onset ER stress-associated apoptosis and protein mislocalization. Read More

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The Role of Mcl-1 in Embryonic Neural Precursor Cell Apoptosis.

Front Cell Dev Biol 2021 20;9:659531. Epub 2021 Apr 20.

Division of BioMedical Sciences, Memorial University, St. John's, NL, Canada.

Myeloid cell leukemia-1 (Mcl-1), an anti-apoptotic Bcl-2 protein, regulates neural precursor cell (NPC) survival in both the developing and adult mammalian nervous system. It is unclear when during the neurogenic period Mcl-1 becomes necessary for NPC survival and whether Bax is the sole pro-apoptotic target of Mcl-1. To address these questions, we used the nervous system-specific Nestin-Cre Mcl-1 conditional knockout mouse line (Mcl-1 CKO) to assess the anti-apoptotic role of Mcl-1 in developmental neurogenesis. Read More

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Luminal A Breast Cancer Co-expression Network: Structural and Functional Alterations.

Front Genet 2021 20;12:629475. Epub 2021 Apr 20.

Computational Genomics Division, National Institute of Genomic Medicine, Mexico City, Mexico.

Luminal A is the most common breast cancer molecular subtype in women worldwide. These tumors have characteristic yet heterogeneous alterations at the genomic and transcriptomic level. Gene co-expression networks (GCNs) have contributed to better characterize the cancerous phenotype. Read More

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Participates in Palatogenesis by Promoting Palatal Growth and Elevation.

Front Physiol 2021 20;12:653040. Epub 2021 Apr 20.

Department of Orthodontics, Shanghai Key Laboratory of Stomatology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Cleft palate, a common global congenital malformation, occurs due to disturbances in palatal growth, elevation, contact, and fusion during palatogenesis. The () mutation has been discovered in humans with cleft lip and palate. is expressed in both the epithelium and mesenchyme, with temporospatial diversity during palatogenesis. Read More

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Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.

Eur J Hum Genet 2021 May 6. Epub 2021 May 6.

Research Centre for Medical Genetics, Moscow, Russia.

Niemann-Pick disease type C (NP-C) (OMIM#257220) is a rare lysosomal storage disorder caused by pathogenic variants in either the NPC1 or NPC2 genes. It manifests with a wide spectrum of clinical symptoms and variable age of onset. We studied the impact of the frequent polymorphic variant c. Read More

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Long-read metagenomics retrieves complete single-contig bacterial genomes from canine feces.

BMC Genomics 2021 May 6;22(1):330. Epub 2021 May 6.

Molecular Genetics Veterinary Service (SVGM), Veterinary School, Universitat Autònoma de Barcelona, Barcelona, Spain.

Background: Long-read sequencing in metagenomics facilitates the assembly of complete genomes out of complex microbial communities. These genomes include essential biologic information such as the ribosomal genes or the mobile genetic elements, which are usually missed with short-reads. We applied long-read metagenomics with Nanopore sequencing to retrieve high-quality metagenome-assembled genomes (HQ MAGs) from a dog fecal sample. Read More

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Clinical, Immunological, and Genetic Features in 938 Patients with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED): a Systematic Review.

Expert Rev Clin Immunol 2021 May 6. Epub 2021 May 6.

Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare inborn immune error associated with the autoimmune regulator () gene mutation. It is classically characterized by a triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (ADI).

Methods: Literature search was conducted in PubMed, Web of Science, and Scopus databases using related keywords, and included studies were systematically evaluated. Read More

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Effect of CHRFAM7A Δ2bp gene variant on secondary inflammation after spinal cord injury.

PLoS One 2021 6;16(5):e0251110. Epub 2021 May 6.

School of Systems Biology, George Mason University, Fairfax, Virginia, United States of America.

The α7 neuronal nicotinic acetylcholine receptors (α7nAChRs) are essential for anti-inflammatory responses. The human-specific CHRFAM7A gene and its 2bp deletion polymorphism (Δ2bp variant) encodes a structurally-deficient α7nAChRs that may impact the anti-inflammatory function. We studied 45 spinal cord injury (SCI) patients for up to six weeks post SCI to investigate the role of the Δ2bp variant on multiple circulating inflammatory mediators and two outcome measures (neuropathic pain and risk of pressure ulcers). Read More

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Interleukin-23 reshapes kidney resident cell metabolism and promotes local kidney inflammation.

J Clin Invest 2021 May 6. Epub 2021 May 6.

Department of Medicine, Beth Israel Deaconess Medical Center, Boston, United States of America.

Interstitial kidney inflammation is present in various nephritides in which serum IL-23 is elevated. Here we show that IL-23 receptor (IL-23R) expressing murine and human renal tubular epithelial cells (TEC) respond to IL-23 by inducing intracellular calcium flux, enhanced glycolysis, and the upregulation of calcium/calmodulin kinase IV (CaMK4) which results in suppression of the expression of the arginine degrading enzyme arginase 1 (ARG1) thus increasing in situ levels of free L-Arginine (Arg). Limited availability of Arg suppresses the ability of infiltrating T cells to proliferate and produce inflammatory cytokines. Read More

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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Mol Genet Genomic Med 2021 May 6:e1665. Epub 2021 May 6.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

Background: Currently available structural variant (SV) detection methods do not span the complete spectrum of disease-causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically-relevant SVs in a 4-year-old male with an epileptic encephalopathy of undiagnosed molecular origin.

Methods: OGM was utilized to image long, megabase-size DNA molecules, fluorescently labeled at specific sequence motifs throughout the genome with high sensitivity for detection of SVs greater than 500 bp in size. Read More

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Transferrin receptor 1 ablation in satellite cells impedes skeletal muscle regeneration through activation of ferroptosis.

J Cachexia Sarcopenia Muscle 2021 May 6. Epub 2021 May 6.

Guangdong Provincial Key Laboratory of Microbial Culture Collection and Application, State Key Laboratory of Applied Microbiology Southern China, Institute of Microbiology, Guangdong Academy of Sciences, Guangzhou, China.

Background: Satellite cells (SCs) are critical to skeletal muscle regeneration. Inactivation of SCs is linked to skeletal muscle loss. Transferrin receptor 1 (Tfr1) is associated with muscular dysfunction as muscle-specific deletion of Tfr1 results in growth retardation, metabolic disorder, and lethality, shedding light on the importance of Tfr1 in muscle physiology. Read More

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A 20-kb lineage-specific genomic region tames virulence in pathogenic amphidiploid Verticillium longisporum.

Mol Plant Pathol 2021 May 5. Epub 2021 May 5.

Department of Molecular Microbiology and Genetics, Institute of Microbiology and Genetics and Göttingen Center for Molecular Biosciences, University of Göttingen, Göttingen, Germany.

Amphidiploid fungal Verticillium longisporum strains Vl43 and Vl32 colonize the plant host Brassica napus but differ in their ability to cause disease symptoms. These strains represent two V. longisporum lineages derived from different hybridization events of haploid parental Verticillium strains. Read More

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Yeast Nucleolin Nsr1 Impedes Replication and Elevates Genome Instability at an Actively Transcribed Guanine-Rich G4 DNA-Forming Sequence.

Genetics 2020 Dec;216(4):1023-1037

Department of Microbiology and Molecular Genetics, University of Texas Health Science Center at Houston, Houston, Texas 77030.

A significant increase in genome instability is associated with the conformational shift of a guanine-run-containing DNA strand into the four-stranded G-quadruplex (G4) DNA. The mechanism underlying the recombination and genome rearrangements following the formation of G4 DNA in vivo has been difficult to elucidate but has become better clarified by the identification and functional characterization of several key G4 DNA-binding proteins. Mammalian nucleolin (NCL) is a highly specific G4 DNA-binding protein with a well-defined role in the transcriptional regulation of genes with associated G4 DNA-forming sequence motifs at their promoters. Read More

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December 2020

Analysis of Haplotypic Variation and Deletion Polymorphisms Point to Multiple Archaic Introgression Events, Including from Altai Neanderthal Lineage.

Genetics 2020 Jun;215(2):497-509

Department of Biological Sciences, State University of New York at Buffalo, New York 14260.

Although analysis of modern and ancient genomes showed that Neanderthals contributed genetic material to the ancestors of extant human populations, when and where Neanderthals interacted with modern human populations remain exciting... Read More

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The Classic Lobe Eye Phenotype of Drosophila Is Caused by Transposon Insertion-Induced Misexpression of a Zinc-Finger Transcription Factor.

Genetics 2020 Sep;216(1):117-134

Dr osophila Lobe (L) alleles were first discovered ∼100 years ago as spontaneous dominant mutants with characteristic developmental eye defects. However, the molecular basis for L dominant eye phenotypes has not been clearly understood. A previous work reported identification of CG10109/PRAS40 as the L gene, but subsequent analyses suggested that PRAS40 may not be related to L. Read More

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September 2020

Tolerance of DNA Replication Stress Is Promoted by Fumarate Through Modulation of Histone Demethylation and Enhancement of Replicative Intermediate Processing in Saccharomyces cerevisiae.

Genetics 2019 Jul;212(3):631-654

Department of Biochemistry, Purdue University, West Lafayette, Indiana 47907.

Genome integrity is fundamental to viability and health and can be impacted by metabolic alterations that affect chromatin composition. Saatchi and Kirchmaier present evidence that loss of fumarase, an ortholog of the tumor suppressor.. Read More

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Role of the Cell Asymmetry Apparatus and Ribosome-Associated Chaperones in the Destabilization of a Saccharomyces cerevisiae Prion by Heat Shock.

Genetics 2019 Jul;212(3):757-771

School of Biological Sciences, Georgia Institute of Technology, Atlanta, Georgia 30332.

Self-perpetuating protein aggregates (prions) cause diseases in mammals. Yeast prions are heritable in cell divisions. Howie et al. Read More

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Role of the Cell Asymmetry Apparatus and Ribosome-Associated Chaperones in the Destabilization of a Saccharomyces cerevisiae Prion by Heat Shock.

Genetics 2019 Jul;212(3):757-771

School of Biological Sciences, Georgia Institute of Technology, Atlanta, Georgia 30332.

Self-perpetuating protein aggregates (prions) cause diseases in mammals. Yeast prions are heritable in cell divisions. Howie et al. Read More

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Tolerance of DNA Replication Stress Is Promoted by Fumarate Through Modulation of Histone Demethylation and Enhancement of Replicative Intermediate Processing in Saccharomyces cerevisiae.

Genetics 2019 Jul;212(3):631-654

Department of Biochemistry, Purdue University, West Lafayette, Indiana 47907.

Genome integrity is fundamental to viability and health and can be impacted by metabolic alterations that affect chromatin composition. Saatchi and Kirchmaier present evidence that loss of fumarase, an ortholog of the tumor suppressor.. Read More

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Transcriptional heterogeneity of stemness phenotypes in the ovarian epithelium.

Commun Biol 2021 May 5;4(1):527. Epub 2021 May 5.

Cancer Therapeutics Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.

The ovarian surface epithelium (OSE) is a monolayer of epithelial cells surrounding the ovary that ruptures during each ovulation to allow release of the oocyte. This wound is quickly repaired, but mechanisms promoting repair are poorly understood. The contribution of tissue-resident stem cells in the homeostasis of several epithelial tissues is widely accepted, but their involvement in OSE is unclear. Read More

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Ablation of dynamin-related protein 1 promotes diabetes-induced synaptic injury in the hippocampus.

Cell Death Dis 2021 May 5;12(5):445. Epub 2021 May 5.

Department of Anatomy and Convergence Medical Science, Institute of Health Sciences, College of Medicine, Gyeongsang National University, Jinju, Gyeongnam, 52727, Republic of Korea.

Dynamin-related protein 1 (Drp1)-mediated mitochondrial dysfunction is associated with synaptic injury in the diabetic brain. However, the dysfunctional mitochondria by Drp1 deletion in the diabetic brain are poorly understood. Here, we investigated the effects of neuron-specific Drp1 deletion on synaptic damage and mitophagy in the hippocampus of a high-fat diet (HFD)/streptozotocin (STZ)-induced diabetic mice. Read More

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Genetic Analysis of Sirtuin Deacetylases in Hyphal Growth of .

mSphere 2021 May 5;6(3). Epub 2021 May 5.

Department of Biological Sciences, State University of New York at Buffalo, Buffalo, New York, USA

is a major human fungal pathogen that encounters varied host environments during infection. In response to environmental cues, switches between ovoid yeast and elongated hyphal growth forms, and this morphological plasticity contributes to virulence. Environmental changes that alter the cell's metabolic state could be sensed by sirtuins, which are NAD-dependent deacetylases. Read More

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Age-Related Improvements in Executive Functions and Focal Attention in 22q11.2 Deletion Syndrome Vary Across Domain and Task.

J Int Neuropsychol Soc 2021 May 6:1-14. Epub 2021 May 6.

Developmental Imaging and Psychopathology Lab, Department of Psychiatry, University of Geneva School of Medicine, Campus Biotech, Chemin des Mines 9, 1202Geneva, Switzerland.

Objective: Executive functions (EF) and focal attention have been identified as a weakness in the profile of 22q11.2 deletion syndrome (22q11DS). However, due to a high variety of tasks used across previous studies, it remains unclear whether impairments may be more pronounced for specific subdomains of EF and focal attention. Read More

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Evaluation of spice and herb as phyto-derived selective modulators of human retinaldehyde dehydrogenases using a simple in vitro method.

Biosci Rep 2021 May 5. Epub 2021 May 5.

The University of Tokyo, Tokyo, Japan.

Selective modulation of retinaldehyde dehydrogenases (RALDHs) - the main aldehyde dehydrogenase (ALDH) enzymes converting retinal into retinoic acid (RA), is very important not only in the RA signaling pathway but also for the potential regulatory effects on RALDH isozyme-specific processes and RALDH-related cancers. However, very few selective modulators for RALDHs have been identified, partly due to variable overexpression protocols of RALDHs and insensitive activity assay that needs to be addressed. In this paper, deletion of the N-terminal disordered regions is found to enable simple preparation of all RALDHs and their closest paralog ALDH2 using a single protocol. Read More

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SETD2 epidermal deficiency promotes cutaneous wound healing via activation of AKT/mTOR Signalling.

Cell Prolif 2021 May 5:e13045. Epub 2021 May 5.

State Key Laboratory of Oncogenes and Related Genes, School of Medicine and School of Biomedical Engineering, Renji Med-X Clinical Stem Cell Research Center, Ren Ji Hospital, Shanghai Jiao Tong University, Shanghai, China.

Objectives: Cutaneous wound healing is one of the major medical problems worldwide. Epigenetic modifiers have been identified as important players in skin development, homeostasis and wound repair. SET domain-containing 2 (SETD2) is the only known histone H3K36 tri-methylase; however, its role in skin wound healing remains unclear. Read More

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Autosomal deletion/insertion polymorphisms for global stratification analyses and ancestry origin inferences of different continental populations by machine learning methods.

Electrophoresis 2021 May 5. Epub 2021 May 5.

Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, P. R. China.

A lot of population data of 30 deletion/insertion polymorphisms (DIPs) of the Investigator DIPplex kit in different continental populations have been reported. Here, we assessed genetic distributions of these 30 DIPs in different continental populations to pinpoint candidate ancestry informative DIPs. Besides, the effectiveness of machine learning methods for ancestry analysis was explored. Read More

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GIPC2 is an endocrine-specific tumor suppressor gene for both sporadic and hereditary tumors of RET- and SDHB-, but not VHL-associated clusters of pheochromocytoma/paraganglioma.

Cell Death Dis 2021 May 4;12(5):444. Epub 2021 May 4.

Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, China.

Pheochromocytoma/paraganglioma (PPGL) is an endocrine tumor of the chromaffin cells in the adrenal medulla or the paraganglia. Currently, about 70% of PPGLs can be explained by germline or somatic mutations in several broadly expressed susceptibility genes including RET, VHL, and SDHB, while for the remaining, mainly sporadic cases, the pathogenesis is still unclear. Even for known susceptible genes, how mutations in these mostly ubiquitous genes result in tissue-specific pathogenesis remains unanswered, and why RET-mutated tumors almost always occur in the adrenal while SDHB-mutated tumors mostly occur extra-adrenal remains a mystery. Read More

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