144,330 results match your criteria predisposition protein


Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.

J Cell Mol Med 2021 Sep 20. Epub 2021 Sep 20.

The First Affiliated Hospital of Jinan University, Guangzhou, China.

Hirschsprung disease (HSCR) is an infrequent congenital intestinal dysplasia. The known genetic variations are unable to fully explain the pathogenesis of HSCR. The α/β-hydratase domain 1 (ABHD1) interferes with the proliferation and migration of intestinal stem cells. Read More

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September 2021

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and hypergonadotropic hypogonadism.

J Clin Res Pediatr Endocrinol 2021 Sep 21. Epub 2021 Sep 21.

Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, Poland.

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in NBN gene, resulting in defective nibrin protein formation. This leads to chromosomal instability, which predisposes to cancer, with lymphoid malignancies predominating. Read More

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September 2021

Investigating the Association between IL-27 and Susceptibility to Preeclampsia among Iranian Women.

Clin Lab 2021 Sep;67(9)

Background: Preeclampsia (PE) is one of the most serious disorders of human pregnancy with a high rate of mortality for the fetus and mother. Several etiological factors are involved in the onset of this disease. Upregulation of IL-27 has been reported in placental tissue recovered from preeclamptic women, but the role of IL-27 has not yet been investigated in PE. Read More

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September 2021

RNF43 Pathogenic Germline Variant in a Family with Colorectal Cancer.

Clin Genet 2021 Sep 19. Epub 2021 Sep 19.

Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville South, SA, Australia.

The role of RNF43 as a cause of an inherited predisposition to colorectal cancer (CRC) is yet to be fully explored. This report presents our findings of two individuals with CRC from a single family carrying a likely-pathogenic inherited germline variant in RNF43. The proband (III:1) and the proband's mother (II:2) were diagnosed with mismatch repair proficient CRCs at the age of 50 years and 65 years, respectively. Read More

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September 2021

A Functional Variant of CXCL16 Is Associated With Predisposition to Sepsis and MODS in Trauma Patients: Genetic Association Studies.

Front Genet 2021 3;12:720313. Epub 2021 Sep 3.

Department of Trauma Medical Center, Daping Hospital, Army Medical University, Chongqing, China.

Purpose: CXC chemokines are mediators which mediate immune cells migration to sites of inflammation and injury. Chemokine C-X-C motif ligand 16 (CXCL16) plays an important role in the occurrence and development of sepsis through leukocyte chemotaxis, leukocyte adhesion and endotoxin clearance. In this study, we selected a set of tagging single nucleotide polymorphisms (tag SNPs) in the CXCL16 gene and investigated their clinical relevance to the development of sepsis and multiple organ dysfunction syndrome (MODS) in patients with major trauma in three independent Chinese Han populations. Read More

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September 2021

RNA-Seq Reveals Different Gene Expression in Liver-Specific Prohibitin 1 Knock-Out Mice.

Front Physiol 2021 3;12:717911. Epub 2021 Sep 3.

Department of Nutritional Science and Food Management, College of Science and Industry Convergence, Ewha Womans University, Seoul, South Korea.

Prohibitin 1 (PHB1) is an evolutionarily conserved and ubiquitously expressed protein that stabilizes mitochondrial chaperone. Our previous studies showed that liver-specific Phb1 deficiency induced liver injuries and aggravated lipopolysaccharide (LPS)-induced innate immune responses. In this study, we performed RNA-sequencing (RNA-seq) analysis with liver tissues to investigate global gene expression among liver-specific Phb1, Phb1, and WT mice, focusing on the differentially expressed (DE) genes between Phb1 and WT. Read More

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September 2021

Transcriptional and epigenetic regulation of gasdermins.

J Mol Biol 2021 Sep 16:167253. Epub 2021 Sep 16.

CIRI, Centre International de Recherche en Infectiologie, Inserm U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, ENS de Lyon, Univ Lyon, F-69007, LYON, France. Electronic address:

Gasdermins (GSDM) are a family of six homologous proteins (GSDMA to E and Pejvakin) in humans. GSDMA-E are pore-forming proteins targeting the plasma membrane to trigger a rapid cell death termed pyroptosis or bacterial membranes to promote antibacterial immune defenses. Activation of GSDM relies on a proteolytic cleavage but is highly dependent on GSDM expression levels. Read More

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September 2021

The effect of beta-amyloid and tau protein aggregations on magnetic susceptibility of anterior hippocampal laminae in Alzheimer's diseases.

Neuroimage 2021 Sep 16:118584. Epub 2021 Sep 16.

Key Laboratory for Biomedical Engineering of Ministry of Education, Department of Biomedical Engineering, College of Biomedical Engineering & Instrument Science, Zhejiang University, Hangzhou, China. Electronic address:

Previous studies have reported the changes of magnetic susceptibility induced by iron deposition in hippocampus of Alzheimer's disease (AD) brains. It is well-known that hippocampus is divided into well-defined laminar architecture, which, however, is difficult to be resolved with in-vivo MRI due to the limited imaging resolution. The present study aims to investigate layer-specific magnetic susceptibility in the hippocampus of AD patients using high-resolution ex-vivo MRI, and elucidate its relationship with beta amyloid (Aβ) and tau protein histology. Read More

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September 2021

MAPK /ERK signaling pathway: A potential target for the treatment of intervertebral disc degeneration.

Biomed Pharmacother 2021 Sep 15;143:112170. Epub 2021 Sep 15.

Second Provincial People's Hospital of Gansu, 1 Hezheng West Street, Lanzhou 730000, PR China; Affiliated Hospital of Northwest Minzu Univsity, Lanzhou 730000, PR China. Electronic address:

Intervertebral disc degeneration (IDD) is a chronic skeletal muscle degenerative disease, which is considered the main cause of low back pain. It seriously affects the quality of life of patients and consequently brings a heavy economic burden to their families and the society. Although IDD is considered a natural process in degenerative lesions, it is mainly caused by aging, trauma, genetic susceptibility and other factors. Read More

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September 2021

Evaluation of feeding behaviour traits to predict efficiency traits in pigs using partial least square regression.

Animal 2021 Sep 14;15(10):100351. Epub 2021 Sep 14.

Swine Research Unit, Agroscope Posieux 1725, Switzerland; Animal GenoPhenomics Group, Agroscope Posieux 1725, Switzerland. Electronic address:

The improvement of efficiency traits, such as protein efficiency (PE), digestible energy efficiency (EnE) and lipid gain (LipG), are relevant given their associations with environmental pollution, cost of production, and the quality of meat. However, these traits are difficult to measure and usually require slaughtering of pigs. Efficiency traits are complex, and several factors, such as genetic predisposition, feed composition, but also individual feeding behaviour may contribute to efficiency. Read More

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September 2021

A novel fibrinogen γ-chain frameshift mutation, p. Cys365Phefs*41, causing hypofibrinogenemia with bleeding phenotype in a Chinese family.

Ann Transl Med 2021 Aug;9(16):1308

Clinical Laboratory, The Affiliated Shunde Hospital of Jinan University, Foshan, China.

Background: Congenital hypofibrinogenemia is a rare bleeding disease that is classified as the quantitative deficient type. In the present study, investigated the relationship between the genotype and phenotype in a family with hypofibrinogenemia.

Methods: The proband was aware of a predisposition to bleeding. Read More

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A bacterial kinase phosphorylates OSK1 to suppress stomatal immunity in rice.

Nat Commun 2021 Sep 16;12(1):5479. Epub 2021 Sep 16.

Department of Plant Pathology, the Ministry of Agriculture Key Laboratory of Pest Monitoring and Green Management, and Joint Laboratory for International Cooperation in Crop Molecular Breeding, Ministry of Education, China Agricultural University, Beijing, China.

The Xanthomonas outer protein C2 (XopC2) family of bacterial effectors is widely found in plant pathogens and Legionella species. However, the biochemical activity and host targets of these effectors remain enigmatic. Here we show that ectopic expression of XopC2 promotes jasmonate signaling and stomatal opening in transgenic rice plants, which are more susceptible to Xanthomonas oryzae pv. Read More

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September 2021

Decoding the cardiac actions of protein kinase D isoforms.

Mol Pharmacol 2021 Sep 16. Epub 2021 Sep 16.

Columbia University, United States

Protein kinase D (PKD) consists of a family of three structurally related enzymes that play key roles in a wide range of biological functions that contribute to the evolution of cardiac hypertrophy and heart failure. PKD1 (the founding member of this enzyme family) has been implicated in the phosphorylation of substrates that regulate cardiac hypertrophy, contraction, and susceptibility to ischemia/reperfusion injury and mutations have been identified in patients with syndromic congenital heart disease. However, cardiomyocytes co-express all three PKDs; while stimulus-specific activation patterns for PKD1, PKD2, and PKD3 have been identified in cardiomyocytes, progress toward identifying PKD isoform-specific functions in the heart have been hampered by significant gaps in our understanding of the molecular mechanisms that regulate PKD activity. Read More

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September 2021

An overview of human proteins and genes involved in SARS-CoV-2 infection.

Gene 2021 Sep 13:145963. Epub 2021 Sep 13.

Division of Epidemiology, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37203, USA; Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37203, USA. Electronic address:

As of July 2021, the outbreak of coronavirus disease 2019 (COVID-19), caused by SARS-CoV-2, has led to more than 200 million infections and more than 4.2 million deaths globally. Complications of severe COVID-19 include acute kidney injury, liver dysfunction, cardiomyopathy, and coagulation dysfunction. Read More

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September 2021

Neurological susceptibility to environmental exposures: pathophysiological mechanisms in neurodegeneration and multiple chemical sensitivity.

Rev Environ Health 2021 Sep 16. Epub 2021 Sep 16.

Family and Community Medicine, University of Toronto, Toronto, ON, Canada.

The World Health Organization lists air pollution as one of the top five risks for developing chronic non-communicable disease, joining tobacco use, harmful use of alcohol, unhealthy diets and physical inactivity. This review focuses on how host defense mechanisms against adverse airborne exposures relate to the probable interacting and overlapping pathophysiological features of neurodegeneration and multiple chemical sensitivity. Significant long-term airborne exposures can contribute to oxidative stress, systemic inflammation, transient receptor subfamily vanilloid 1 (TRPV1) and subfamily ankyrin 1 (TRPA1) upregulation and sensitization, with impacts on olfactory and trigeminal nerve function, and eventual loss of brain mass. Read More

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September 2021

The Genetic Basis of Moyamoya Disease.

Transl Stroke Res 2021 Sep 16. Epub 2021 Sep 16.

Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurosurgery, Berlin, Germany.

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their major branches with compensatory capillary collaterals resembling a "puff of smoke" (Japanese: Moyamoya) on cerebral angiography. These pathological alterations of the vessels are called Moyamoya arteriopathy or vasculopathy and a further distinction is made between primary and secondary MMD. Clinical presentation depends on age and population, with hemorrhage and ischemic infarcts in particular leading to severe neurological dysfunction or even death. Read More

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September 2021

X-linked immunodeficient (XID) mice exhibit high susceptibility to Cryptococcus gattii infection.

Sci Rep 2021 Sep 15;11(1):18397. Epub 2021 Sep 15.

Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21941-900, Brazil.

Cryptococcosis is an opportunistic disease caused by the fungus Cryptococcus neoformans and Cryptococcus gattii. It starts as a pulmonary infection that can spread to other organs, such as the brain, leading to the most serious occurrence of the disease, meningoencephalitis. The humoral response has already been described in limiting the progression of cryptococcosis where the B-1 cell seems to be responsible for producing natural IgM antibodies, crucial for combating fungal infections. Read More

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September 2021

Brain-derived neurotrophic factor gene variants and obesity in former smokers.

BMC Genomics 2021 Sep 15;22(1):668. Epub 2021 Sep 15.

Institute of geriatrics, the 2nd Medical Center,Beijing Key Laboratory of Aging and Geriatrics, National Clinical Research Center for Geriatrics Diseases, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853, China.

Objective: From genome-wide association studies, brain-derived neurotrophic factor (BDNF) locus on chromosome 11 was the only SNP associated with both smoking and body mass index (BMI) in European, African and Asian population. This study aims to explore the unique genetic predisposition to obesity in former smokers by examining the effects of BDNF on BMI and waist circumference (WC).

Methods: The study design is case-control study with a cohort validation in supplementary. Read More

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September 2021

Genetic Polymorphisms in Patients With Systemic Lupus Erythematosus and Jaccoud Arthropathy: A Pilot Study.

J Clin Rheumatol 2021 Sep;27(6S):S193-S197

Serviço de Reumatologia do Hospital Universitário Professor Edgard Santos-Universidade Federal da Bahia.

Introduction: Jaccoud arthropathy (JA) is a nonerosive and deforming arthropathy experienced frequently by patients with systemic lupus erythematosus (SLE). Although genetic polymorphisms are associated with SLE development, the association between genetic polymorphisms and JA has not been studied to date. The main objective of this study was to evaluate an association between HLA, STAT4, IRF5, and BLK polymorphisms and the presence of JA in Brazilian individuals with SLE. Read More

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September 2021

A natural variant in ANP32B impairs influenza virus replication in human cells.

J Gen Virol 2021 Sep;102(9)

Department of Infectious Disease, Faculty of Medicine, Imperial College London, UK.

Viruses require host factors to support their replication, and genetic variation in such factors can affect susceptibility to infectious disease. Influenza virus replication in human cells relies on ANP32 proteins, which are involved in assembly of replication-competent dimeric influenza virus polymerase (FluPol) complexes. Here, we investigate naturally occurring single nucleotide variants (SNV) in the human and genes. Read More

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September 2021

Inverse Correlation Between Alzheimer's Disease and Cancer: Short Overview.

Mol Neurobiol 2021 Sep 14. Epub 2021 Sep 14.

Laboratory of Virology, Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, R. Weigla 12, 53-114, Wroclaw, Poland.

The negative association between Alzheimer's disease (AD) and cancer suggests that susceptibility to one disease may protect against the other. When biological mechanisms of AD and cancer and relationship between them are understood, the unsolved problem of both diseases which still touches the growing human population could be overcome. Actual information about biological mechanisms and common risk factors such as chronic inflammation, age-related metabolic deregulation, and family history is presented here. Read More

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September 2021

Derangement of protein S and C4b-binding protein levels as acquired thrombophilia in HIV-infected adult Nigerians.

South Afr J HIV Med 2021 23;22(1):1253. Epub 2021 Aug 23.

Harvard School of Public Health, Boston, Massachusetts, United States of America.

Background: HIV is a chronic inflammatory state with the production of many acute-phase-reactant proteins. Some of these proteins have procoagulant activities that predispose HIV-infected patients to thrombosis.

Objectives: The aim of the study was to evaluate the effects of HIV infection on the serum levels of C4b-binding protein (C4BP) and protein S as markers of predisposition to thrombosis in HIV-infected adults. Read More

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Possible mechanisms of cholesterol elevation aggravating COVID-19.

Int J Med Sci 2021 21;18(15):3533-3543. Epub 2021 Aug 21.

Department of Cardiology, Heart Center, Zhujiang Hospital, Southern Medical University, 235 Industrial Avenue, Guangzhou, 510282, Guangdong, People's Republic of China.

Despite the availability of a vaccine against the severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2), humans will have to live with this virus and the after-effects of the coronavirus disease 2019 (COVID-19) infection for a long time. Cholesterol plays an important role in the infection and prognosis of SARS-CoV-2, and the study of its mechanism is of great significance not only for the treatment of COVID-19 but also for research on generic antiviral drugs. Cholesterol promotes the development of atherosclerosis by activating NLR family pyrin domain containing 3 (NLRP3), and the resulting inflammatory environment indirectly contributes to COVID-19 infection and subsequent deterioration. Read More

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The RNA binding protein HuR is a gatekeeper of liver homeostasis.

Hepatology 2021 Sep 14. Epub 2021 Sep 14.

Institute for Clinical Chemistry and Laboratory Medicine, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany.

Background And Aims: Non-alcoholic fatty liver disease (NAFLD) is initiated by steatosis and can progress via fibrosis and cirrhosis to hepatocellular carcinoma (HCC). The RNA binding protein HuR controls RNAs at the posttranscriptional level; hepatocyte HuR has been implicated in the regulation of diet-induced hepatic steatosis. The present study aimed to understand the role of hepatocyte-HuR in NAFLD development and progression to fibrosis and HCC. Read More

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September 2021

Protein signatures of NK cell-mediated melanoma killing predict response to immunotherapies.

Cancer Res 2021 Sep 13. Epub 2021 Sep 13.

Molecular Physiology, Universitätsmedizin Göttingen

Despite impressive advances in melanoma-directed immunotherapies, resistance is common and many patients still succumb to metastatic disease. In this context, harnessing natural killer (NK) cells, which have thus far been sidelined in the development of melanoma immunotherapy, could provide therapeutic benefits for cancer treatment. To identify molecular determinants of NK cell-mediated melanoma killing (NKmK), we quantified NK cell cytotoxicity against a panel of genetically diverse melanoma cell lines and observed highly heterogeneous susceptibility. Read More

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September 2021

Lack of association of FKBP5 SNPs and haplotypes with susceptibility and treatment response phenotypes in Han Chinese with major depressive disorder: A pilot case-control study (STROBE).

Medicine (Baltimore) 2021 Sep;100(36):e26983

University of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, The Netherlands.

Abstract: The identification of single-nucleotide polymorphisms (SNPs) in genes putatively related to pathophysiological processes in major depressive disorder (MDD) might improve both diagnosis and personalized treatment strategies eventually leading to more effective interventions. Considering the important role of the glucocorticoid receptor and the related FK506 binding protein 51 (FKBP51) in the pathophysiology of MDD, we aimed to investigate putative associations between variants of FKBP5, the coding gene of FKBP51, with antidepressant treatment resistance and MDD susceptibility.Nine common SNPs of the FKBP5 gene prioritized based on location and, putative or known functions were genotyped in Han Chinese population, including MDD patients with or without antidepressant-treatment resistance and healthy controls. Read More

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September 2021

A clubroot pathogen effector targets cruciferous cysteine proteases to suppress plant immunity.

Virulence 2021 12;12(1):2327-2340

Department of Biology, University of Saskatchewan, Saskatoon, Canada.

Plant pathogen effector proteins are key to pathogen virulence. In susceptible host Brassicas, the clubroot pathogen, , induces the production of nutrient-sink root galls, at the site of infection. Among a list of 32 effector candidates previously reported by our group, we identified SSPbP53 as a putative apoplastic cystatin-like protein highly expressed during the secondary infection. Read More

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December 2021

Association of CD2AP neuronal deposits with Braak neurofibrillary stage in Alzheimer's disease.

Brain Pathol 2021 Sep 12:e13016. Epub 2021 Sep 12.

Neurovascular Research Laboratory, Vall d'Hebron Research Institute, Universitat Autonoma de Barcelona, Barcelona, Spain.

Genome-wide association studies have described several genes as genetic susceptibility loci for Alzheimer's disease (AD). Among them, CD2AP encodes CD2-associated protein, a scaffold protein implicated in dynamic actin remodeling and membrane trafficking during endocytosis and cytokinesis. Although a clear link between CD2AP defects and glomerular pathology has been described, little is known about the function of CD2AP in the brain. Read More

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September 2021

Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders.

Acta Neuropathol 2021 Sep 13. Epub 2021 Sep 13.

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

Mutations in glucocerebrosidase (GBA) are the most prevalent genetic risk factor for Lewy body disorders (LBD)-collectively Parkinson's disease, Parkinson's disease dementia and dementia with Lewy bodies. Despite this genetic association, it remains unclear how GBA mutations increase susceptibility to develop LBD. We investigated relationships between LBD-specific glucocerebrosidase deficits, GBA-related pathways, and α-synuclein levels in brain tissue from LBD and controls, with and without GBA mutations. Read More

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September 2021

Functional variation (Q63R) in the cannabinoid CB2 receptor may affect the severity of COVID-19: a human study and molecular docking.

Arch Virol 2021 Sep 13. Epub 2021 Sep 13.

Department of Microbiology, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.

Evidence supports a role of host genetic diversity in the clinical course of coronavirus disease 2019 (COVID-19). Variation in the cannabinoid CB2 receptor gene (CNR2) could affect the regulatory action of endocannabinoids on the immune system, resulting in an increased risk of various inflammatory diseases. The present study investigated the relationship between the CNR2-Q63R variant and COVID-19 severity. Read More

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September 2021