202 results match your criteria multiple armadillo

gene is inactivated in mammalian lineages that lack enamel or teeth.

PeerJ 2021 22;9:e10219. Epub 2021 Jan 22.

Jiangsu Key Laboratory for Biodiversity and Biotechnology, College of Life Sciences, Nanjing Normal University, Nanjing, Jiangsu, China.

Loss of tooth or enamel is widespread in multiple mammal lineages. Although several studies have been reported, the evolutionary mechanisms of tooth/enamel loss are still unclear. Most previous studies have found that some tooth-related genes have been inactivated in toothless and/or enamel-less mammals, such as , , , , , , etc. Read More

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January 2021

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

Enhancing mitogenomic phylogeny and resolving the relationships of extinct megafaunal placental mammals.

Mol Phylogenet Evol 2021 May 20;158:107082. Epub 2021 Jan 20.

School of Biology and Environmental Science, Queensland University of Technology, 2 George Street, Brisbane 4000, QLD, Australia; School of Biology, Faculty of Applied Sciences, Universiti Teknologi MARA (UiTM) Caw. Negeri Sembilan, Kuala Pilah 72000, Malaysia.

Mitochondrial genomes provided the first widely used sequences that were sufficiently informative to resolve relationships among animals across a wide taxonomic domain, from within species to between phyla. However, mitogenome studies supported several anomalous relationships and fell partly out of favour as sequencing multiple, independent nuclear loci proved to be highly effective. A tendency to blame mitochondrial DNA (mtDNA) has overshadowed efforts to understand and ameliorate underlying model misspecification. Read More

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β-catenin regulates FOXP2 transcriptional activity via multiple binding sites.

FEBS J 2020 Dec 7. Epub 2020 Dec 7.

Gottfried Schatz Research Center for Cell Signaling, Metabolism and Aging, Molecular Biology and Biochemistry, Medical University of Graz, Austria.

The transcription factor forkhead box protein P2 (FOXP2) is a highly conserved key regulator of embryonal development. The molecular mechanisms of how FOXP2 regulates embryonal development, however, remain elusive. Using RNA sequencing, we identified the Wnt signaling pathway as key target of FOXP2-dependent transcriptional regulation. Read More

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December 2020

ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1).

J Clin Endocrinol Metab 2020 12;105(12)

Section on Genetics & Endocrinology, Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development, Bethesda, Maryland.

Context: Adrenal lesions are frequent among patients with sporadic neuroendocrine tumors (spNETs) or multiple endocrine neoplasia type 1 (MEN1). Armadillo repeat-containing 5 (ARMC5)-inactivating variants cause adrenal tumors and possibly other neoplasms.

Objective: The objective of this work is to investigate a large cohort spNETs or MEN1 patients for changes in the ARMC5 gene. Read More

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December 2020

Sarm1 knockout protects against early but not late axonal degeneration in experimental allergic encephalomyelitis.

PLoS One 2020 25;15(6):e0235110. Epub 2020 Jun 25.

Department of Neurology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, United States of America.

Programmed axonal degeneration, also known as Wallerian degeneration, occurs in immune-mediated central nervous system (CNS) inflammatory disorders such as multiple sclerosis and the animal model experimental allergic encephalomyelitis (EAE). Sterile alpha and TIR domain containing protein 1 (SARM1) functions to promote programmed axonal degeneration. To test the hypothesis that loss of SARM1 will reduce axonal degeneration in immune-mediated CNS inflammatory disorders, the course and pathology of EAE was compared in Sarm1 knockout mice and wild type littermates. Read More

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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

J Clin Invest 2020 08;130(8):4423-4439

Department of Pediatrics, University of Washington, Seattle, Washington, USA.

Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. Here, we used the recently identified JBTS-associated protein armadillo repeat motif-containing 9 (ARMC9) in tandem-affinity purification and yeast 2-hybrid screens to identify a ciliary module whose dysfunction underlies JBTS. Read More

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Denser Markers and Advanced Statistical Method Identified More Genetic Loci Associated with Husk Traits in Maize.

Sci Rep 2020 05 18;10(1):8165. Epub 2020 May 18.

Dept. of Crop and Soil Sciences, Washington State University, Pullman, WA, 99164, USA.

The husk-the leaf-like outer covering of maize ear-has multiple functions, including protecting the ear from diseases infection and dehydration. In previous studies, we genotyped an association panel of 508 inbred lines genotyped with a total of ~550,000 SNPs (Illumina 50 K SNP Chip and RNA-seq). Genome-Wide Association Studies (GWAS) were conducted on four husk traits: husk length (HL), husk layer number (HN), husk thickness (HT), and husk width (HW). Read More

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Characterizing the Causal Pathway for Genetic Variants Associated with Neurological Phenotypes Using Human Brain-Derived Proteome Data.

Am J Hum Genet 2020 06 14;106(6):885-892. Epub 2020 May 14.

Medical Research Council (MRC) Integrative Epidemiology Unit (IEU), Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, United Kingdom. Electronic address:

Leveraging high-dimensional molecular datasets can help us develop mechanistic insight into associations between genetic variants and complex traits. In this study, we integrated human proteome data derived from brain tissue to evaluate whether targeted proteins putatively mediate the effects of genetic variants on seven neurological phenotypes (Alzheimer disease, amyotrophic lateral sclerosis, depression, insomnia, intelligence, neuroticism, and schizophrenia). Applying the principles of Mendelian randomization (MR) systematically across the genome highlighted 43 effects between genetically predicted proteins derived from the dorsolateral prefrontal cortex and these outcomes. Read More

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Molecular Characterization and Immuno-Reactivity Patterns of a Novel Armadillo-Type Repeat Protein, PfATRP.

Front Cell Infect Microbiol 2020 20;10:114. Epub 2020 Mar 20.

West African Center for Cell Biology of Infectious Pathogens, University of Ghana, Accra, Ghana.

Nearly half of the genes in the genome have not yet been functionally investigated. We used homology-based structural modeling to identify multiple copies of Armadillo repeats within one uncharacterized gene expressed during the intraerythrocytic stages, PF3D7_0410600, subsequently referred to as Armadillo-Type Repeat Protein (PfATRP). Soluble recombinant PfATRP was expressed in a bacterial expression system, purified to apparent homogeneity and the identity of the recombinant PfATRP was confirmed by mass spectrometry. Read More

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Approach to patients with bilateral adrenal incidentalomas.

Curr Opin Endocrinol Diabetes Obes 2020 06;27(3):125-131

Department of Endocrinology, Diabetes, and Metabolism, National Expertise Center for Rare Endocrine Disorders, Evangelismos Hospital, Athens, Greece.

Purpose Of Review: The current review provides a summary on the most recent developments regarding the cause, work-up and management of bilateral adrenal incidentalomas (BAI).

Recent Findings: The recent ENS@T/ESE guidelines provide comprehensive directions on the evaluation and management of patients with adrenal incidentalomas with special focus on those with bilateral tumours. Intraadrenal ACTH synthesis that may locally stimulate cortisol secretion challenging the traditionally used term 'ACTH-independent'. Read More

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Programmed axon degeneration: from mouse to mechanism to medicine.

Nat Rev Neurosci 2020 04 9;21(4):183-196. Epub 2020 Mar 9.

Neuromuscular Division, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Wallerian degeneration is a widespread mechanism of programmed axon degeneration. In the three decades since the discovery of the Wallerian degeneration slow (Wld) mouse, research has generated extensive knowledge of the molecular mechanisms underlying Wallerian degeneration, demonstrated its involvement in non-injury disorders and found multiple ways to block it. Recent developments have included: the detection of NMNAT2 mutations that implicate Wallerian degeneration in rare human diseases; the capacity for lifelong rescue of a lethal condition related to Wallerian degeneration in mice; the discovery of 'druggable' enzymes, including SARM1 and MYCBP2 (also known as PHR1), in Wallerian pathways; and the elucidation of protein structures to drive further understanding of the underlying mechanisms and drug development. Read More

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The LRRK2 N-terminal domain influences vesicle trafficking: impact of the E193K variant.

Sci Rep 2020 03 2;10(1):3799. Epub 2020 Mar 2.

CIBIO, Università degli Studi di Trento, Italy & Dulbecco Telethon Institute, Trento, Italy.

The LRRK2 protein consists of multiple functional domains, including protein-binding domains at its N and C-terminus. Mutations in the Leucine-rich repeat kinase 2 gene (LRRK2) have been linked to familial and sporadic Parkinson's disease (PD). We have recently described a novel variant falling within the N-terminal armadillo repeats, E193K. Read More

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Axons Matter: The Promise of Treating Neurodegenerative Disorders by Targeting SARM1-Mediated Axonal Degeneration.

Trends Pharmacol Sci 2020 04 24;41(4):281-293. Epub 2020 Feb 24.

Disarm Therapeutics, One Main Street, 11th Floor, Cambridge, MA 02139, USA.

Attempts to develop neuroprotective treatments for neurodegenerative disorders have not yet been clinically successful. Axonal degeneration has been recognized as a predominant driver of disability and disease progression in central nervous system (CNS) diseases such as amyotrophic lateral sclerosis (ALS), multiple sclerosis, and Parkinson's disease, peripheral nervous system (PNS) disorders such as chemotherapy-induced, diabetic, and inherited neuropathies, and ocular disorders, such as glaucoma. In recent years, sterile alpha and TIR motif containing 1 (SARM1) has emerged as the first compelling axonal-specific target for therapeutic intervention. Read More

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Update of Genetic and Molecular Causes of Adrenocortical Hyperplasias Causing Cushing Syndrome.

Horm Metab Res 2020 Aug 25;52(8):598-606. Epub 2020 Feb 25.

Cochin Institute, Inserm U1016, CNRS UMR8104, Paris, France.

Bilateral hyperplasias of the adrenal cortex are rare causes of chronic endogenous hypercortisolemia also called Cushing syndrome. These hyperplasias have been classified in two categories based on the adrenal nodule size: the micronodular types include Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and isolated Micronodular Adrenal Disease (iMAD) and the macronodular also named Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH). This review discusses the genetic and molecular causes of these different forms of hyperplasia that involve mutations and dysregulation of various regulators of the cAMP/protein kinase A (PKA) pathway. Read More

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cADPR is a gene dosage-sensitive biomarker of SARM1 activity in healthy, compromised, and degenerating axons.

Exp Neurol 2020 07 19;329:113252. Epub 2020 Feb 19.

Washington University in Saint Louis, Developmental Biology, St. Louis, MO, USA; Needleman Center for Neurometabolism and Axonal Therapeutics, USA. Electronic address:

SARM1 is the central executioner of pathological axon degeneration, promoting axonal demise in response to axotomy, traumatic brain injury, and neurotoxic chemotherapeutics that induce peripheral neuropathy. SARM1 is an injury-activated NAD cleavage enzyme, and this NADase activity is required for the pro-degenerative function of SARM1. At present, SARM1 function is assayed by either analysis of axonal loss, which is far downstream of SARM1 enzymatic activity, or via NAD levels, which are regulated by many competing pathways. Read More

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Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation.

Endocr Relat Cancer 2020 04;27(4):221-230

Université de Paris, Institut Cochin, INSERM, CNRS, Paris, France.

ARMC5 (Armadillo repeat containing 5 gene) was identified as a new tumor suppressor gene responsible for hereditary adrenocortical tumors and meningiomas. ARMC5 is ubiquitously expressed and encodes a protein which contains a N-terminal Armadillo repeat domain and a C-terminal BTB (Bric-a-Brac, Tramtrack and Broad-complex) domain, both docking platforms for numerous proteins. At present, expression regulation and mechanisms of action of ARMC5 are almost unknown. Read More

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Interfacial toughening effect of suture structures.

Acta Biomater 2020 01 19;102:75-82. Epub 2019 Nov 19.

Department of Materials Science and Engineering, University of California Berkeley, Berkeley, CA 94720, USA. Electronic address:

Suture interfaces are one of the most common architectural designs in natural material-systems and are critical for ensuring multiple functionalities by providing flexibility while maintaining connectivity. Despite intensive studies on the mechanical role of suture structures, there is still a lack of understanding on the fracture mechanics of suture interfaces in terms of their interactions with impinging cracks. Here we reveal an interfacial toughening effect of suture structures by means of "excluding" cracks away from interfaces based on a dimensionless micro-mechanical model for single-leveled and hierarchical suture interfaces with triangular-shaped suture teeth. Read More

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January 2020

Targeting the programmed axon degeneration pathway as a potential therapeutic for Charcot-Marie-Tooth disease.

Brain Res 2020 01 2;1727:146539. Epub 2019 Nov 2.

Department of Neurology, Neuromuscular Division, Johns Hopkins School of Medicine, Baltimore, MD, United States. Electronic address:

The programmed axon degeneration pathway has emerged as an important process contributing to the pathogenesis of several neurological diseases. The most crucial events in this pathway include activation of the central executioner SARM1 and NAD depletion, which leads to an energetic failure and ultimately axon destruction. Given the prevalence of this pathway, it is not surprising that inhibitory therapies are currently being developed in order to treat multiple neurological diseases with the same therapy. Read More

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January 2020

Scribble and Discs-large direct initial assembly and positioning of adherens junctions during the establishment of apical-basal polarity.

Development 2019 11 21;146(22). Epub 2019 Nov 21.

Department of Biology, University of North Carolina at Chapel Hill, CB#3280, Chapel Hill, NC 27599-3280, USA

Apical-basal polarity is a fundamental property of animal tissues. embryos provide an outstanding model for defining mechanisms that initiate and maintain polarity. Polarity is initiated during cellularization, when cell-cell adherens junctions are positioned at the future boundary of apical and basolateral domains. Read More

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November 2019

A hidden battle in the dirt: Soil amoebae interactions with Paracoccidioides spp.

PLoS Negl Trop Dis 2019 10 7;13(10):e0007742. Epub 2019 Oct 7.

Department of Cell Biology, Institute of Biological Sciences, University of Brasília, Brasília, DF, Brazil.

Paracoccidioides spp. are thermodimorphic fungi that cause a neglected tropical disease (paracoccidioidomycosis) that is endemic to Latin America. These fungi inhabit the soil, where they live as saprophytes with no need for a mammalian host to complete their life cycle. Read More

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October 2019

Discovery of Aberrant Alteration of Genome in Colorectal Cancer by Exome Sequencing.

Am J Med Sci 2019 11 1;358(5):340-349. Epub 2019 Aug 1.

Department of Clinical Immunology, Institute of Clinical Laboratory Medicine, Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, Guangdong Medical University, Dongguan, Guangdong, China. Electronic address:

Background: This study analyzed multiple parameters including somatic single nucleotide variations (SNVs), Insertion/Deletions, significantly mutated genes (SMGs), copy number variations and frequently altered pathways aims to discover novel aberrances in the tumorigenesis of colorectal cancer (CRC).

Materials And Methods: Exome sequencing was performed on an Illumina platform to identify novel potential somatic variances in 34 paired tumor and adjacent normal tissues from 17 CRC patients. Results were compared with databases (dbSNP138, 1000 genomes SNP, Hapmap, Catalogue of Somatic Mutation of Cancer and ESP6500) and analyzed. Read More

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November 2019

MLKS2 is an ARM domain and F-actin-associated KASH protein that functions in stomatal complex development and meiotic chromosome segregation.

Nucleus 2019 12;10(1):144-166

a Department of Biological Science , Florida State University , Tallahassee , FL , USA.

The linker of nucleoskeleton and cytoskeleton (LINC) complex is an essential multi-protein structure spanning the eukaryotic nuclear envelope. The LINC complex functions to maintain nuclear architecture, positioning, and mobility, along with specialized functions in meiotic prophase and chromosome segregation. Members of the LINC complex were recently identified in maize, an important scientific and agricultural grass species. Read More

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December 2019

Social and environmental conditions related to Mycobacterium leprae infection in children and adolescents from three leprosy endemic regions of Colombia.

BMC Infect Dis 2019 Jun 13;19(1):520. Epub 2019 Jun 13.

Instituto Colombiano de Medicina Tropical, Faculty of Medicine, Escuela de Graduados - Universidad CES, Cra 43 A # 52 Sur 99., Sabaneta, Colombia.

Background: Leprosy is is still considered a public health issue and in Colombia 7-10% of new cases are found in children, indicating both active transmission and social inequality. We hypothesized that circulating antibodies against Natural Octyl Disaccharide-Leprosy IDRI Diagnostic (NDO-LID) (a combination of Mycobacterium leprae antigens) could reveal the social and environmental aspects associated with higher frequencies of M. leprae infection among children and adolescents in Colombia. Read More

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Major risk factors for leprosy in a non-endemic area of the United States: A case series.

IDCases 2019 9;17:e00557. Epub 2019 May 9.

Department of Internal Medicine, Division of Infectious Diseases and International Medicine, University of South Florida, Tampa, FL, United States.

Approximately 200 cases of leprosy are reported each year in the United States, and about 175 of the cases are diagnosed for the first time. Florida contributes a large number of reported cases each year and is showing an increasing incidence. Studies from other southern U. Read More

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The sperm-associated antigen 6 interactome and its role in spermatogenesis.

Reproduction 2019 08;158(2):181-197

Department of Physiology, Wayne State University, Detroit, Michigan, USA.

Mammalian SPAG6, the orthologue of Chlamydomonas reinhardtii PF16, is a component of the central apparatus of the '9 + 2' axoneme that controls ciliary/flagellar motility, including sperm motility. Recent studies revealed that SPAG6 has functions beyond its role in the central apparatus. Hence, we reexamined the role of SPAG6 in male fertility. Read More

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Detection of Mycobacterium leprae DNA in soil: multiple needles in the haystack.

Sci Rep 2019 02 28;9(1):3165. Epub 2019 Feb 28.

Department of Infectious Diseases, Leiden University Medical Center, Leiden, The Netherlands.

Leprosy is an infectious disease caused by Mycobacterium leprae affecting the skin and nerves. Despite decades of availability of adequate treatment, transmission is unabated and transmission routes are not completely understood. Despite the general assumption that untreated M. Read More

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February 2019

SARM: From immune regulator to cell executioner.

Biochem Pharmacol 2019 03 8;161:52-62. Epub 2019 Jan 8.

School of Biochemistry and Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin 2, Ireland.

SARM is the fifth and most conserved member of the Toll/Il-1 Receptor (TIR) adaptor family. However, unlike the other TIR adaptors, MyD88, Mal, TRIF and TRAM, SARM does not participate in transducing signals downstream of TLRs. By contrast SARM inhibits TLR signalling by interacting with the adaptors TRIF and MyD88. Read More

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Understanding the role of genetic variability in LRRK2 in Indian population.

Mov Disord 2019 04 28;34(4):496-505. Epub 2018 Nov 28.

Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany.

Background: Genetic variability in LRRK2 has been unequivocally established as a major risk factor for familial and sporadic forms of PD in ethnically diverse populations.

Objectives: To resolve the role of LRRK2 in the Indian population.

Methods: We performed targeted resequencing of the LRRK2 locus in 288 cases and 298 controls and resolved the haplotypic structure of LRRK2 in a combined cohort of 800 cases and 402 controls in the Indian population. Read More

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Armc8 is an evolutionarily conserved armadillo protein involved in cell-cell adhesion complexes through multiple molecular interactions.

Biosci Rep 2019 08 2;39(8). Epub 2019 Aug 2.

Department of Basic Medical Sciences, Ghent University, Ghent, Belgium

Armadillo-repeat-containing protein 8 (Armc8) belongs to the family of armadillo-repeat containing proteins, which have been found to be involved in diverse cellular functions including cell-cell contacts and intracellular signaling. By comparative analyses of armadillo repeat protein structures and genomes from various premetazoan and metazoan species, we identified orthologs of human Armc8 and analyzed in detail the evolutionary relationship of genes and their encoded proteins. Armc8 is a highly ancestral armadillo protein although not present in yeast. Read More

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