940,567 results match your criteria mutation


Detection of Isocitrate Dehydrogenase Mutated Glioblastomas Through Anomaly Detection Analytics.

Neurosurgery 2021 Apr 22. Epub 2021 Apr 22.

Department of Computer Science and Engineering, University of Minnesota, Minneapolis, Minnesota, USA.

Background: The rarity of Isocitrate Dehydrogenase mutated (mIDH) glioblastomas relative to wild-type IDH glioblastomas, as well as their distinct tumor physiology, effectively render them "outliers". Specialized tools are needed to identify these outliers.

Objective: To carefully craft and apply anomaly detection methods to identify mIDH glioblastoma based on radiomic features derived from magnetic resonance imaging. Read More

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Synthesis of Zn2NbN3 ternary nitride semiconductor with wurtzite-derived crystal structure.

Authors:
Andriy Zakutayev

J Phys Condens Matter 2021 Apr 22. Epub 2021 Apr 22.

National Renewable Energy Laboratory, 15013 Denver W pkwy, Golden, Colorado, 80401-3393, UNITED STATES.

Binary III-N nitride semiconductors with wurtzite crystal structure such as GaN and AlN have been long used in many practical applications ranging from optoelectronics to telecommunication. The structurally related ZnGeN2 or ZnSnN2 derived from the parent binary compounds by cation mutation (elemental substitution) have recently attracted attention, but such ternary nitride materials are mostly limited to II-IV-N2 compositions. This paper demonstrates synthesis and characterization of zinc niobium nitride (Zn2NbN3) - a previously unreported II2-V-N3 ternary nitride semiconductor. Read More

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Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).

Stem Cell Res 2021 Apr 19;53:102340. Epub 2021 Apr 19.

Genomics and Molecular Medicine Division, CSIR - Institute of Genomics and Integrative Biology, New Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India; Division of Investigations of Human Pathology by Application Genomics and Stem Cells (iHPSCs-AG), India. Electronic address:

Biallelic PRKG2 (Protein Kinase, cGMP dependent Type-2) mutations cause a novel acromesomelic dysplasia PRKG2 type. We report generation of induced pluripotent stem cell line from lymphoblastoid cell lines of the patient carrying the reported frameshift mutation (p.Asn164Lysfs*2). Read More

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Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T).

Stem Cell Res 2021 Apr 16;53:102349. Epub 2021 Apr 16.

Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing 210029, China. Electronic address:

Peripheral blood mononuclear cells (PBMCs) were harvested and reprogramed to induced pluripotent stem cells (iPSCs) from a 46-year-old male patient with familial dilated cardiomyopathy and atrial fibrillation via a non-integrating system. A missense mutation in the LMNA gene (c.1003C > T) was identified by whole-exome sequencing and verified by Sanger sequencing. Read More

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Generation of an induced pluripotent stem cell line, ICGi028-A, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.E510Q mutation in HADHA.

Stem Cell Res 2021 Apr 19;53:102348. Epub 2021 Apr 19.

Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Center of the Ministry of Health of the Russian Federation, Novosibirsk, Russia.

Hypertrophic cardiomyopathy (HCM) is a frequent cardiovascular pathology caused by a huge number of mutations in sarcomere-associated proteins. This genetic diversity leads to differences in pathogenetic mechanisms and hampers HCM therapy. Cardiomyocytes derived from patient-specific induced pluripotent stem cells give new opportunities for studying underlying HCM mechanisms. Read More

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LKB1 down-modulation by miR-17 identifies NSCLC patients with worse prognosis eligible for energy-stress based treatments.

J Thorac Oncol 2021 Apr 19. Epub 2021 Apr 19.

Tumor Genomics Unit, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy.

Introduction: Preclinical models recently unveiled vulnerability of LKB1/KRAS co-mutated non-small cell lung cancer (NSCLC) to metabolic stress-based treatments. Since miR-17 is a potential epigenetic regulator of LKB1, we hypothesized that wild type LKB1 NSCLC with high miR-17 expression may be sensitive to energetic stress condition, and eligible for metabolic frailties-based therapeutic intervention.

Methods: We took advantage of NSCLC cell lines with different combinations of KRAS mutation and LKB1 deletion, and of patient-derived xenografts (PDXs) with high (L/miR17H) or low (L/miR17L) miR-17 expression. Read More

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Age-related activity of Poly (ADP-ribose) polymerase (PARP) in men with localized prostate cancer.

Mech Ageing Dev 2021 Apr 19:111494. Epub 2021 Apr 19.

Department of Obstetrics and Gynecology, Ulm University, Prittwitzstrasse 43, 89075, Ulm, Germany. Electronic address:

Mutations in DNA repair genes have been connected with familial prostate cancer and sensitivity to targeted drugs like PARP-inhibitors. Clinical use of this information is limited by the small fraction of prostate cancer risk gene carriers, variants of unknown pathogenicity and the focus on monogenic disease mechanisms. Functional assays capturing mono- and polygenic defects were shown to detect breast and ovarian cancer risk in blood-derived cells. Read More

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Increased resistance of SARS-CoV-2 variant P.1 to antibody neutralization.

Cell Host Microbe 2021 Apr 18. Epub 2021 Apr 18.

Aaron Diamond AIDS Research Center, Columbia University Vagelos College of Physicians and Surgeons, New York, NY 10032, USA; Department of Microbiology and Immunology, Columbia University Irving Medical Center, New York, NY 10032, USA; Division of Infectious Diseases, Department of Internal Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY 10032, USA. Electronic address:

The emergence of SARS-CoV-2 variants has raised concerns about altered sensitivity to antibody-mediated immunity. The relative resistance of SARS-CoV-2 variants B.1. Read More

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Familial chilblains lupus in a child with heterozygous mutation in SAMHD1 and normal interferon signature.

Br J Dermatol 2021 Apr 22. Epub 2021 Apr 22.

Department of Dermatology, Boston Children's Hospital, Boston.

The type I interferonopathies comprise a growing group of genetically determined disorders that result in an abnormal upregulation of type I interferon (IFN). Familial chilblain lupus is a type I interferonopathy that is inherited as an autosomal dominant trait. It manifests early in childhood and is characterized by dusky purple patches, papules, and plaques that are exacerbated by cold exposure. Read More

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The SARS-CoV-2 and other human coronavirus spike proteins are fine-tuned towards temperature and proteases of the human airways.

PLoS Pathog 2021 Apr 22;17(4):e1009500. Epub 2021 Apr 22.

KU Leuven, Department of Microbiology, Immunology and Transplantation, Laboratory of Virology and Chemotherapy, Rega Institute, Leuven, Belgium.

The high transmissibility of SARS-CoV-2 is related to abundant replication in the upper airways, which is not observed for the other highly pathogenic coronaviruses SARS-CoV and MERS-CoV. We here reveal features of the coronavirus spike (S) protein, which optimize the virus towards the human respiratory tract. First, the S proteins exhibit an intrinsic temperature preference, corresponding with the temperature of the upper or lower airways. Read More

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Semi-dominant effects of a novel ripening inhibitor (rin) locus allele on tomato fruit ripening.

PLoS One 2021 22;16(4):e0249575. Epub 2021 Apr 22.

Food Research Institute, National Agriculture and Food Research Organization (NARO), Tsukuba, Ibaraki, Japan.

The tomato (Solanum lycopersicum) ripening inhibitor (rin) mutation completely represses fruit ripening, as rin fruits fail to express ripening-associated genes and remain green and firm. Moreover, heterozygous rin fruits (rin/+) ripen normally but have extended shelf life, an important consideration for this perishable fruit crop; therefore, heterozygous rin has been widely used to breed varieties that produce red tomatoes with improved shelf life. We previously used CRISPR/Cas9 to produce novel alleles at the rin locus. Read More

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A novel mechanism of streptomycin resistance in Yersinia pestis: Mutation in the rpsL gene.

PLoS Negl Trop Dis 2021 Apr 22;15(4):e0009324. Epub 2021 Apr 22.

National Institute for Communicable Disease Control and Prevention, China CDC, Changping, Beijing, China.

Streptomycin is considered to be one of the effective antibiotics for the treatment of plague. In order to investigate the streptomycin resistance of Y. pestis in China, we evaluated streptomycin susceptibility of 536 Y. Read More

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The impact of tumor epithelial and microenvironmental heterogeneity on treatment responses in HER2-positive breast cancer.

JCI Insight 2021 Apr 22. Epub 2021 Apr 22.

Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, United States of America.

Despite the availability of multiple HER2-targeted treatments, therapeutic resistance in HER2+ breast cancer remains a clinical challenge. Intratumor heterogeneity for HER2 and resistance-conferring mutations (e.g. Read More

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A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression.

Eur J Endocrinol 2021 Apr 1. Epub 2021 Apr 1.

H Azuma, Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.

Background: POU1F1 encodes both PIT-1α, which plays pivotal roles in pituitary development and GH, PRL and TSHB expression, and the alternatively spliced isoform PIT-1β, which contains an insertion of 26-amino acids (β-domain) in the transactivation domain of PIT-1α due to the use of an alternative splice acceptor at the end of the first intron. PIT-1β is expressed at much lower levels than PIT-1α and represses endogenous PIT-1α transcriptional activity. Although POU1F1 mutations lead to combined pituitary hormone deficiency (CPHD), no patients with β-domain mutations have been reported. Read More

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Hormone replacement therapy in BRCA mutation carriers and risk of ovarian, endometrial, and breast cancer: a systematic review.

J Cancer Res Clin Oncol 2021 Apr 22. Epub 2021 Apr 22.

Department of Gynecology and Obstetrics, University Medical Center Regensburg, Regensburg, Germany.

Purpose: BRCA mutation carriers have an increased risk of developing breast or ovarian cancer. Risk-reducing bilateral salpingo-oophorectomy (RRBSO) is associated with a decrease in risk for tubal and ovarian cancer. Hormone replacement therapy (HRT) may increase breast, ovarian, and endometrial cancer risk in the general population. Read More

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Maize Dek44 Encodes Mitochondrial Ribosomal Protein L9 and Is Required for Seed Development.

Plant Physiol 2019 Jul;180(4):2106-2119

Shanghai Key Laboratory of Bio-Energy Crops, School of Life Sciences, Shanghai University, Shanghai 200444, China.

Mitochondrial respiration depends on proteins encoded by the nuclear and mitochondrial genomes. Many respiratory chain-related proteins are encoded by the mitochondrial genome and undergo translation by mitochondrial ribosomes. The newly identified maize (Zea mays) defective kernel44 (dek44) mutant produces small kernels showing embryo-lethal phenotypes. Read More

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CRISPR-Based Assessment of Gene Specialization in the Gibberellin Metabolic Pathway in Rice.

Plant Physiol 2019 Jul;180(4):2091-2105

State Key Laboratory of Pharmaceutical Biotechnology, School of Life Sciences, Nanjing University, Nanjing 210023, China.

Gibberellin (GA) functions as an essential natural regulator of growth and development in plants. For each step of the GA metabolic pathway, different copy numbers can be found in different species, as is the case with the 13 genes across four enzymatic steps in rice (Oryza sativa). A common view is that such gene duplication creates homologs that buffer organisms against loss-of-function (LOF) mutations. Read More

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VvLAR1 and VvLAR2 Are Bifunctional Enzymes for Proanthocyanidin Biosynthesis in Grapevine.

Plant Physiol 2019 Jun;180(3):1362-1374

BioDiscovery Institute and Department of Biological Sciences, University of North Texas, Denton, Texas 76203.

Proanthocyanidins (PAs) in grapevine (Vitis vinifera) are found mainly in berries, and their content and degree of polymerization are important for the mouth feel of red wine. However, the mechanism of PA polymerization in grapevine remains unclear. Previous studies in the model legume Medicago truncatula showed that 4β-(S-cysteinyl)-epicatechin (Cys-EC) is an epicatechin-type extension unit for nonenzymatic PA polymerization, and that leucoanthocyanidin reductase (LAR) converts Cys-EC into epicatechin starter unit to control PA extension. Read More

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A HORT1 Retrotransposon Insertion in the PeMYB11 Promoter Causes Harlequin/Black Flowers in Phalaenopsis Orchids.

Plant Physiol 2019 Jun;180(3):1535-1548

Department of Life Sciences, National Cheng Kung University, Tainan 701, Taiwan.

The harlequin/black flowers in Phalaenopsis orchids contain dark purple spots and various pigmentation patterns, which appeared as a new color in 1996. We analyzed this phenotype by microscopy, HPLC, gene functional characterization, genome structure analysis, and transient overexpression system to obtain a better understanding of the black color formation in Phalaenopsis orchids. Most mesophyll cells of harlequin flowers showed extremely high accumulation of anthocyanins as well as a high expression of Phalaenopsis equestris MYB11 (PeMYB11) as the major regulatory R2R3-MYB transcription factor for regulating the production of the black color. Read More

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The Protein Modifications of O-GlcNAcylation and Phosphorylation Mediate Vernalization Response for Flowering in Winter Wheat.

Plant Physiol 2019 Jun;180(3):1436-1449

Key Laboratory of Plant Molecular Physiology, Institute of Botany, Chinese Academy of Sciences, Beijing 100093, China.

O-GlcNAcylation and phosphorylation are two posttranslational modifications that antagonistically regulate protein function. However, the regulation of and the cross talk between these two protein modifications are poorly understood in plants. Here we investigated the role of O-GlcNAcylation during vernalization, a process whereby prolonged cold exposure promotes flowering in winter wheat (Triticum aestivum), and analyzed the dynamic profile of O-GlcNAcylated and phosphorylated proteins in response to vernalization. Read More

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E. coli RNase I exhibits a strong Ca2+-dependent inherent double-stranded RNase activity.

Nucleic Acids Res 2021 Apr 22. Epub 2021 Apr 22.

New England Biolabs, Inc., 240 County Road, Ipswich, MA 01938, USA.

Since its initial characterization, Escherichia coli RNase I has been described as a single-strand specific RNA endonuclease that cleaves its substrate in a largely sequence independent manner. Here, we describe a strong calcium (Ca2+)-dependent activity of RNase I on double-stranded RNA (dsRNA), and a Ca2+-dependent novel hybridase activity, digesting the RNA strand in a DNA:RNA hybrid. Surprisingly, Ca2+ does not affect the activity of RNase I on single stranded RNA (ssRNA), suggesting a specific role for Ca2+ in the modulation of RNase I activity. Read More

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Impact of splicing mutations in acute myeloid leukemia treated with hypomethylating agents combined with venetoclax.

Blood Adv 2021 Apr;5(8):2173-2183

Department of Leukemia and.

Spliceosome mutations (SRSF2, SF3B1, U2AF1, ZRSR2), are encountered in ∼50% of secondary acute myeloid leukemia cases (sAML) and define a molecular subgroup with outcomes similar to sAML in de novo AML patients treated with intensive chemotherapy. Outcomes in patients with spliceosome mutations treated with hypomethylating agents in combination with venetoclax (HMA+VEN) remains unknown. The primary objective was to compare outcomes in patients with spliceosome mutations vs wild-type patients treated with HMA+VEN. Read More

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Potent preclinical activity of HexaBody-DR5/DR5 in relapsed and/or refractory multiple myeloma.

Blood Adv 2021 Apr;5(8):2165-2172

Department of Hematology, Cancer Center Amsterdam, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands; and.

Apoptosis induction by death receptor (DR)-specific agonistic antibodies is a potentially effective antitumor therapy. Nonetheless, to date, all conventional DR-targeting antibodies that induce apoptosis via FcγR-dependent DR clustering failed to show clinical efficacy. HexaBody-DR5/DR5 (GEN1029) has been developed to overcome full FcγR dependence. Read More

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New framework for recombination and adaptive evolution analysis with application to the novel coronavirus SARS-CoV-2.

Brief Bioinform 2021 Apr 22. Epub 2021 Apr 22.

School of Public Health (Shenzhen), Sun Yat-sen University, Guangzhou, China.

The 2019 novel coronavirus (SARS-CoV-2) has spread rapidly worldwide and was declared a pandemic by the WHO in March 2020. The evolution of SARS-CoV-2, either in its natural reservoir or in the human population, is still unclear, but this knowledge is essential for effective prevention and control. We propose a new framework to systematically identify recombination events, excluding those due to noise and convergent evolution. Read More

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Comparative phylogenetic analysis of SARS-CoV-2 spike protein-possibility effect on virus spillover.

Brief Bioinform 2021 Apr 22. Epub 2021 Apr 22.

Queensland Biosciences Precinct, The University of Queensland, St Lucia 4072, Queensland, Australia.

Coronavirus disease 2019 has developed into a dramatic pandemic with tremendous global impact. The receptor-binding motif (RBM) region of the causative virus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), binds to host angiotensin-converting enzyme 2 (ACE2) receptors for infection. As ACE2 receptors are highly conserved within vertebrate species, SARS-CoV-2 can infect significant animal species as well as human populations. Read More

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Switching Cytolytic Nanopores into Antimicrobial Fractal Ruptures by a Single Side Chain Mutation.

ACS Nano 2021 Apr 22. Epub 2021 Apr 22.

National Physical Laboratory, Hampton Road, Teddington, TW11 0LW, U.K.

Disruption of cell membranes is a fundamental host defense response found in virtually all forms of life. The molecular mechanisms vary but generally lead to energetically favored circular nanopores. Here, we report an elaborate fractal rupture pattern induced by a single side-chain mutation in ultrashort (8-11-mers) helical peptides, which otherwise form transmembrane pores. Read More

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Screening Strategies for Deafness Genes and Functional Outcomes in Cochlear Implant Patients.

Otol Neurotol 2021 Jan;42(1):180-187

*Department of Otolaryngology †Dr. John T. Macdonald Foundation Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.

Objectives: To review the current state of knowledge about the influence of specific genetic mutations that cause sensorineural hearing loss (SNHL) on cochlear implant (CI) functional outcomes, and how this knowledge may be integrated into clinical practice. A multistep and sequential population-based genetic algorithm suitable for the identification of congenital SNHL mutations before CI placement is also examined.

Data Sources, Study Selection: A review was performed of the English literature from 2000 to 2019 using PubMed regarding the influence of specific mutations on CI outcomes and the use of next-generation sequencing for genetic screening of CI patients. Read More

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January 2021

Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same variants.

Endocr Regul 2020 Nov 24;54(4):260-265. Epub 2020 Nov 24.

DIABGENE Laboratory, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.

Mutations of the gene are the most common cause of the permanent neonatal diabetes mellitus (PNDM). Majority of people with KNCJ11-PNDM have a de-novo mutation. We aimed to compare diabetes phenotype in two children and their mothers with PNDM carrying the same sulfonylurea-sensitive variants. Read More

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November 2020

[Effects of Three Commonly Used Herbicides on Bacterial Antibiotic Resistance].

Huan Jing Ke Xue 2021 May;42(5):2550-2557

College of Resources and Environment, Fujian Agriculture and Forestry University, Fuzhou 350002, China.

The spread of antibiotic resistance has become a serious threat to global public health. Recently, several studies have found that non-antibiotic chemicals can promote the generation and spread of bacterial antibiotic resistance. However, the effects of herbicides on the antibiotic resistance of bacteria remain unclear. Read More

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