34 results match your criteria truncates highly


A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.

Genes (Basel) 2021 Mar 12;12(3). Epub 2021 Mar 12.

Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Carretera de Colmenar km 9.100, 28034 Madrid, Spain.

Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA) forms like DFNA68, a rare subtype of hearing impairment caused by disruption of a stereociliary scaffolding protein (HOMER2) that is essential for normal hearing in humans and mice. In this study, we report a novel HOMER2 variant (c. Read More

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Anastral Spindle 3/Rotatin Stabilizes Sol narae and Promotes Cell Survival in .

Mol Cells 2021 Jan;44(1):13-25

Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Korea.

Apoptosis and compensatory proliferation, two intertwined cellular processes essential for both development and adult homeostasis, are often initiated by the mis-regulation of centrosomal proteins, damaged DNA, and defects in mitosis. Fly Anastral spindle 3 (Ana3) is a member of the pericentriolar matrix proteins and known as a key component of centriolar cohesion and basal body formation. We report here that is a suppressor of lethality induced by the overexpression of Sol narae (Sona), a metalloprotease in a disintegrin and metalloprotease with thrombospondin motif (ADAMTS) family. Read More

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January 2021

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.

Proc Natl Acad Sci U S A 2020 07 7;117(29):17151-17155. Epub 2020 Jul 7.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.

Inherited bone marrow failure (BMF) syndromes are a heterogeneous group of diseases characterized by defective hematopoiesis and often predisposing to myelodysplastic syndrome (MDS) and acute myelogenous leukemia. We have studied a large family consisting of several affected individuals with hematologic abnormalities, including one family member who died of acute leukemia. By whole-exome sequencing, we identified a novel frameshift variant in the ubiquitously expressed transcription factor specificity protein 1 (). Read More

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Sequential deletion of CD63 identifies topologically distinct scaffolds for surface engineering of exosomes in living human cells.

Nanoscale 2020 Jun;12(22):12014-12026

Department of Bioengineering, Santa Clara University, 500 El Camino Real, Santa Clara, CA 95053, USA.

Exosomes are cell-derived extracellular vesicles that have great potential in the field of nano-medicine. However, a fundamental challenge in the engineering of exosomes is the design of biocompatible molecular scaffolds on their surface to enable cell targeting and therapeutic functions. CD63 is a hallmark protein of natural exosomes that is highly enriched on the external surface of the membrane. Read More

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Disruption of Core 1-mediated O-glycosylation oppositely regulates CD44 expression in human colon cancer cells and tumor-derived exosomes.

Biochem Biophys Res Commun 2020 01 31;521(2):514-520. Epub 2019 Oct 31.

Department of Oncology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, 100020, China. Electronic address:

Aberrant O-glycosylation truncates O-glycans and is known to be closely associated with colorectal cancer (CRC), a major gastrointestinal tumor. CD44 is one of the highly post-transcriptionally modified O-glycoproteins participating in a series of physiological and pathobiological processes. In this research, we aimed to investigate whether CD44 expression in cells and exosomes can be influenced by disruption of Core 1-mediated O-glycosylation. Read More

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January 2020

Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of in Patients with BMND18.

Int J Endocrinol 2018 14;2018:8953217. Epub 2018 Oct 14.

School of Biology & Basic Medical Sciences, Medical College of Soochow University, Soochow University, Suzhou, Jiangsu, China.

Background: Bone mineral density quantitative trait locus 18 (BMND18, OMIM #300910) is a type of early-onset osteogenesis imperfecta (OI) caused by loss-of-function mutations in the PLS3 gene, which encodes plastin-3, a key protein in the formation of actin bundles throughout the cytoskeleton. Here, we report a patient with PLS3 mutation caused BMND18 and evaluated all the reported disease-causing mutations by bioinformatic analysis.

Methods: Targeted gene sequencing was performed to find the disease-causing mutation in our patient. Read More

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October 2018

Fragmentation of Escherichia coli mRNA by MazF and MqsR.

Biochimie 2019 Jan 10;156:79-91. Epub 2018 Oct 10.

Institute of Technology, University of Tartu, Nooruse 1, 50411, Tartu, Estonia. Electronic address:

MazEF and MqsRA are toxin-antitoxin systems, where the toxins MazF and MqsR sequence-specifically cleave single-stranded RNA, thereby shutting down protein synthesis and cell growth. However, it has been proposed that MazF functions in a highly specific pathway, where it truncates the 5' ends of a set of E. coli transcripts (the MazF regulon), which are then translated under stress conditions by specialized ribosomes. Read More

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January 2019

Biosynthesis of Tropolones in Streptomyces spp.: Interweaving Biosynthesis and Degradation of Phenylacetic Acid and Hydroxylations on the Tropone Ring.

Appl Environ Microbiol 2018 06 31;84(12). Epub 2018 May 31.

State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, and School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, People's Republic of China

Tropolonoids are important natural products that contain a unique seven-membered aromatic tropolone core and exhibit remarkable biological activities. 3,7-Dihydroxytropolone (DHT) isolated from species is a multiply hydroxylated tropolone exhibiting antimicrobial, anticancer, and antiviral activities. In this study, we determined the DHT biosynthetic pathway by heterologous expression, gene deletion, and biotransformation. Read More

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Premature polyadenylation of MAGI3 is associated with diminished N-methyladenosine in its large internal exon.

Sci Rep 2018 01 23;8(1):1415. Epub 2018 Jan 23.

Department of Developmental, Chemical and Molecular Biology, Tufts University School of Medicine, 136 Harrison Ave, Boston, MA, 02111, USA.

In cancer, tumor suppressor genes (TSGs) are frequently truncated, causing their encoded products to be non-functional or dominant-negative. We previously showed that premature polyadenylation (pPA) of MAGI3 truncates the gene, switching its functional role from a TSG to a dominant-negative oncogene. Here we report that MAGI3 undergoes pPA at the intron immediately downstream of its large internal exon, which is normally highly modified by N-methyladenosine (mA). Read More

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January 2018

Targeted deletion of the zebrafish actin-bundling protein L-plastin (lcp1).

PLoS One 2018 2;13(1):e0190353. Epub 2018 Jan 2.

Department of Biological Sciences, DePaul University, Chicago, Illinois, United States of America.

Regulation of the cytoskeleton is essential for cell migration in health and disease. Lymphocyte cytosolic protein 1 (lcp1, also called L-plastin) is a hematopoietic-specific actin-bundling protein that is highly conserved in zebrafish, mice and humans. In addition, L-plastin expression is documented as both a genetic marker and a cellular mechanism contributing to the invasiveness of tumors and transformed cell lines. Read More

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February 2018

Vaccination With a Latch Peptide Provides Serotype-Independent Protection Against Group B Streptococcus Infection in Mice.

J Infect Dis 2017 12;217(1):93-102

Biotechnology Division, Korea Atomic Energy Research Institute, Jeongeup.

Streptococcus agalactiae (group B streptococcus [GBS]) is a leading cause of invasive diseases in neonates and severe infections in elderly individuals. GBS serine-rich repeat glycoprotein 1 (Srr1) acts as a critical virulence factor by facilitating GBS invasion into the central nervous system through interaction with the fibrinogen Aα chain. This study revealed that srr1 is highly conserved, with 86. Read More

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December 2017

A Mutant Expressed in Two Pieces Has Almost Full Activity in Escherichia coli K-12.

J Bacteriol 2017 09 8;199(17). Epub 2017 Aug 8.

Department of Microbiology, University of Massachusetts at Amherst, Amherst, Massachusetts, USA

The ability to restart broken DNA replication forks is essential across all domains of life. In , the , , , and genes encode the replication restart proteins (RRPs) to accomplish this task. PriA plays a critical role in replication restart such that its absence reveals a dramatic phenotype: poor growth, high basal levels of SOS expression, poorly partitioned nucleoids (Par), UV sensitivity, and recombination deficiency (Rec). Read More

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September 2017

E3 Ubiquitin Ligase Siah-1 is Down-regulated and Fails to Target Natural HBx Truncates for Degradation in Hepatocellular Carcinoma.

J Cancer 2016 20;7(4):418-26. Epub 2016 Jan 20.

2. Department of Infectious Diseases, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China;

Hepatocellular carcinoma (HCC) is a common worldwide malignancy with high morbidity and mortality. Hepatitis B viral (HBV)-encoded X protein (HBx) and natural HBx variants play important roles in HBV-associated HCC development. HBx is an unstable protein that can be degraded in vivo. Read More

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February 2016

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Hum Genet 2016 Mar 2;135(3):345-57. Epub 2016 Feb 2.

Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.

Split-hand/foot malformation 1 (SHFM1) is caused by chromosomal aberrations involving the region 7q21.3, DLX5 mutation, and dysregulation of DLX5/DLX6 expression by long-range position effects. SHFM1 can be isolated or syndromic with incomplete penetrance and a highly variable clinical expression, possibly influenced by sex and imprinting. Read More

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Brown adipose tissue in cetacean blubber.

PLoS One 2015 26;10(2):e0116734. Epub 2015 Feb 26.

The University Museum, The University of Tokyo, Bunkyo-ku, Tokyo 113-0033, Japan.

Brown adipose tissue (BAT) plays an important role in thermoregulation in species living in cold environments, given heat can be generated from its chemical energy reserves. Here we investigate the existence of BAT in blubber in four species of delphinoid cetacean, the Pacific white-sided and bottlenose dolphins, Lagenorhynchus obliquidens and Tursiops truncates, and Dall's and harbour porpoises, Phocoenoides dalli and Phocoena phocoena. Histology revealed adipocytes with small unilocular fat droplets and a large eosinophilic cytoplasm intermingled with connective tissue in the innermost layers of blubber. Read More

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January 2016

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

Gene 2015 May 11;563(1):10-6. Epub 2015 Feb 11.

Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark; Department of Otorhinolaryngology, Head & Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, DK-2400 Copenhagen NV, Denmark.

Linkage to an interval overlapping the DFNA10 locus on chromosome 6q22-23 was found through genome wide linkage analysis in a seven-generation Swedish family segregating postlingual, autosomal dominant nonsyndromic sensorineural hearing impairment. A novel heterozygous frame-shift mutation (c.579_580insTACC, p. Read More

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Counterion condensation on heparin oligomers.

Biomacromolecules 2013 Apr 21;14(4):1113-21. Epub 2013 Mar 21.

Department of Chemistry, University of Massachusetts, 710 North Pleasant Street, Amherst, Massachusetts, 01003, USA.

The electropherogram of native heparin shows a broad distribution of mobilities μ, which truncates abruptly at a notably high μ = 4.7 × 10(-4) cm(2) V(-1) s(-1). This highly skewed mobility distribution is also found for the 20-saccharide chain, which shows from mass spectrometry a more uniform (symmetrical) with respect to sulfation level. Read More

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A functional nuclear localization sequence in the VP1 capsid protein of coxsackievirus B3.

Virology 2012 Nov 23;433(2):513-21. Epub 2012 Sep 23.

Department of Microbiology, Harbin Medical University, Harbin 150081, China.

The capsid proteins of some RNA viruses can translocate to the nucleus and interfere with cellular phenotypes. In this study we found that the VP1 capsid protein of coxsackievirus B3 (CVB3) was dominantly localized in the nucleus of the cells transfected with VP1-expressing plasmid. The VP1 nuclear localization also occurred in the cells infected with CVB3. Read More

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November 2012

Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.

Fam Cancer 2012 Dec;11(4):595-600

Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, USA.

Nibrin (NBN), located on chromosome 8q21 is a gene involved in DNA double-strand break repair that has been implicated in the rare autosomal recessive chromosomal instability syndrome known as Nijmegen Breakage Syndrome (NBS). NBS is characterized by specific physical characteristics (microcephaly and dysmorphic facies), immunodeficiency, and increased risk of malignancy. Individuals who are heterozygous for NBN mutations are clinically asymptomatic, but may display an elevated risk for certain cancers including, but not limited to, ovarian and prostate cancer as well as various lymphoid malignancies. Read More

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December 2012

A natural mutation-led truncation in one of the two aluminum-activated malate transporter-like genes at the Ma locus is associated with low fruit acidity in apple.

Mol Genet Genomics 2012 Aug 18;287(8):663-78. Epub 2012 Jul 18.

Department of Horticulture, New York State Agricultural Experiment Station, Cornell University, Geneva, NY 14456, USA.

Acidity levels greatly affect the taste and flavor of fruit, and consequently its market value. In mature apple fruit, malic acid is the predominant organic acid. Several studies have confirmed that the major quantitative trait locus Ma largely controls the variation of fruit acidity levels. Read More

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Cu(A) centers and their biosynthetic models in azurin.

J Biol Inorg Chem 2010 May 19;15(4):461-83. Epub 2010 Feb 19.

Department of Chemistry, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA.

Cu(A) is a binuclear copper center that functions as an electron transfer agent, cycling between a reduced Cu(I)Cu(I) state and an oxidized mixed-valence Cu(+1.5).. Read More

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A constitutional translocation t(1;17)(p36.2;q11.2) in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.

PLoS One 2008 May 21;3(5):e2207. Epub 2008 May 21.

Department for Molecular Biomedical Research, VIB, Ghent, Belgium.

The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17)(p36.2;q11. Read More

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Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Am J Hum Genet 2008 May 10;82(5):1165-70. Epub 2008 Apr 10.

Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.

We have identified and characterized two unrelated patients with prenatal onset of microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and febrile seizures/epilepsy who both carry a de novo balanced translocation that truncates the DYRK1A gene at chromosome 21q22.2. DYRK1A belongs to the dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family, which is highly conserved throughout evolution. Read More

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Highly active anticancer curcumin analogues.

Adv Exp Med Biol 2007 ;595:77-103

Department of Chemistry, Emory University, Atlanta, GA 30322, USA.

Curcumin, a compound in the human food supply, represents a near-perfect starting point for drug discovery. Consequently, a number of research groups have taken the natural product as a starting point to prepare and biologically evaluate a wide variety of curcumin analogues. One widely used structural modification truncates the central conjugated beta-diketone in curcumin to the monocarbonyl dienone. Read More

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Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43.

Am J Med Genet A 2007 Feb;143(4):360-3

Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands.

Oculo-dento-digital dysplasia (ODDD, OMIM no.164210) is a pleiotropic disorder caused by mutations in the GJA1 gene that codes for the gap junction protein connexin 43. While the gene is highly expressed in skin, ODDD is usually not associated with skin symptoms. Read More

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February 2007

Models to compare management options for a protogynous fish.

Ecol Appl 2006 Feb;16(1):238-49

Department of Fisheries and Wildlife, 104 Nash Hall, Oregon State University, Corvallis, Oregon 97331, USA.

Populations of gag (Mycteroperca microlepis), a hermaphroditic grouper, have experienced a dramatic shift in sex ratio over the past 25 years due to a decline in older age classes. The highly female-skewed sex ratio can be predicted as a consequence of increased fishing mortality that truncates the age distribution, and raises some concern about the overall fitness of the population. Management efforts may need to be directed toward maintenance of sex ratio as well as stock size, with evaluations of recruitment based on sex ratio or male stock size in addition to the traditional female-based stock-recruitment relationship. Read More

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February 2006

Keratins as susceptibility genes for end-stage liver disease.

Gastroenterology 2005 Sep;129(3):885-93

Department of Medicine, Palo Alto VA Medical Center, Palo Alto, California 94304, USA.

Background & Aims: Keratins 8 and 18 protect the liver from stress. Keratin 8 and 18 variants in 17 of 467 liver disease explants and 2 of 349 blood bank controls were previously reported in 5 analyzed exonic regions. We asked whether mutations were present in the remaining 10 exons of keratins 8 and 18. Read More

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September 2005

Conservation of the 3'-untranslated regions of calmodulin mRNAs in cetaceans.

Mol Biol Rep 2003 Sep;30(3):193-8

Department of Biochemistry and Molecular Biology, College of Medicine, Howard University, Washington, DC, USA.

Three separate calmodulin (CaM) genes (I, II and III) encoding an identical CaM protein but differing in the 5'- and 3'-untranslated regions of each of the three mRNAs are present and highly conserved in all mammals (so far examined). Primers complementary to the 3'- untranslated region (3'UTR) of each of the three mRNAs occurring in human, rat and mouse were synthesized and used to amplify regions of the 3'UTR from genomic DNA isolated from cetaceans, specifically from the bottled-nosed dolphin (Tursiops truncates), the pygmy sperm whale (Kogia breviceps) and the humpback whale (Megaptera novaeangliae). Using several primers and PCR conditions, the three CaM genes were identified in all three species by this method with one exception. Read More

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September 2003

Lack of activating c-SRC mutations at codon 531 in rectal cancer.

Cancer Genet Cytogenet 2000 Aug;121(1):94-5

Department of Oncology, University Hospital, Lund, Sweden.

Cellular SRC (c-SRC), which is the human homolog of the Rous sarcoma viral oncogene, v-src, is highly activated in colorectal cancer. Recently, a subset of colon cancers have shown a nonsense mutation at codon 531, which truncates c-SRC directly C-terminal to the c-SRC kinase regulatory domain. This specific mutation has been demonstrated to be activating, transforming, and tumorigenic and to promote metastasis. Read More

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Mutations in KERA, encoding keratocan, cause cornea plana.

Nat Genet 2000 May;25(1):91-5

Division of Human Cancer Genetics, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA.

Specialized collagens and small leucine-rich proteoglycans (SLRPs) interact to produce the transparent corneal structure. In cornea plana, the forward convex curvature is flattened, leading to a decrease in refraction. A more severe, recessively inherited form (CNA2; MIM 217300) and a milder, dominantly inherited form (CNA1; MIM 121400) exist. Read More

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