Works (24)
Updated: August 22nd, 2023 21:16
2023 journal article
Aberrantly activated TAK1 links neuroinflammation and neuronal loss in Alzheimer?s disease mouse models
JOURNAL OF CELL SCIENCE, 136(6).
author keywords: Alzheimer?s disease; Cell death; Inflammation; TAK1
MeSH headings : Animals; Mice; Alzheimer Disease / genetics; Calcium; Cytokines / metabolism; Neuroinflammatory Diseases; Signal Transduction / physiology
TL;DR:
It is reported that compound stimulation with the neurotoxic factors TNF and glutamate aberrantly activates neuronal TAK1 (also known as MAP3K7), which promotes the pathogenesis of AD in mouse models and provides a molecular mechanism linking cytokines, Ca2+ signaling and neuronal necroptosis in AD.
(via Semantic Scholar)
open access via doi.org (publisher)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Sources: Web Of Science, NC State University Libraries, ORCID
Added: May 30, 2023
2022 article
Inter-pathologist agreement on diagnosis, classification and grading of canine glioma
Krane, G. A., Shockley, K. R., Malarkey, D. E., Miller, A. D., Miller, C. R., Tokarz, D. A., … Mariani, C. L. (2022, July 30). VETERINARY AND COMPARATIVE ONCOLOGY, Vol. 7.
author keywords: brain; cancer; dog; histopathology; immunohistochemistry
MeSH headings : Humans; Animals; Dogs; Oligodendroglioma / diagnosis; Oligodendroglioma / veterinary; Oligodendroglioma / pathology; Pathologists; Dog Diseases / diagnosis; Dog Diseases / pathology; Glioma / diagnosis; Glioma / veterinary; Glioma / pathology; Astrocytoma / veterinary; Brain Neoplasms / diagnosis; Brain Neoplasms / veterinary; Brain Neoplasms / pathology
TL;DR:
Inter‐pathologist agreement utilising CBTC guidelines for canine glioma was moderate overall but varied from fair to almost perfect between pairs of pathologists, similar for oligodendrogliomas and astrocytomas but lower for undefined gliomas.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, ORCID, NC State University Libraries
Added: August 8, 2022
2021 article
Immunohistochemical evaluation of immune cell infiltration in canine gliomas
Krane, G. A., Carly A. O'Dea, Malarkey, D. E., Miller, A. D., Miller, C. R., Tokarz, D. A., … Mariani, C. L. (2021, July 1). VETERINARY PATHOLOGY, Vol. 7.
author keywords: astrocytoma; brain; dogs; cancer; immunohistochemistry; immunology; lymphocytes; macrophages; oligodendroglioma
MeSH headings : Animals; Antigens, CD20; Dog Diseases; Dogs; Glioma / veterinary; Immunohistochemistry; Lymphocytes, Tumor-Infiltrating; T-Lymphocytes, Regulatory
TL;DR:
The distribution of immune cells infiltrating spontaneous intracranial canine gliomas was determined and there was a significant increase in tumor area fraction of CD163 compared to Mac387, and this ratio was greater in high- grade tumors than in low-grade tumors.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, NC State University Libraries
Added: August 2, 2021
2021 journal article
Scavenger Receptor BI Attenuates IL-17A-Dependent Neutrophilic Inflammation in Asthma
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 64(6), 698–708.
author keywords: asthma; IL-17A; SR-BI receptor; neutrophilia; adrenal insufficiency
MeSH headings : Adrenal Insufficiency / complications; Adrenal Insufficiency / immunology; Animals; Asthma / immunology; Asthma / metabolism; Asthma / parasitology; Asthma / pathology; CD36 Antigens / deficiency; CD36 Antigens / metabolism; Hypersensitivity / complications; Inflammation / pathology; Interleukin-17 / metabolism; Lung / parasitology; Lung / pathology; Male; Mice, Inbred C57BL; Neutrophils / immunology; Neutrophils / pathology; Ovalbumin / immunology; Pyroglyphidae / physiology; Th17 Cells / immunology
TL;DR:
Data indicate that SR-BI dampens pulmonary neutrophilic inflammation and IL-17A production in allergic asthma at least in part by maintaining adrenal function.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Source: Web Of Science
Added: June 28, 2021
2021 journal article
Sex Differences in Pulmonary Eicosanoids and Specialized Pro-Resolving Mediators in Response to Ozone Exposure
TOXICOLOGICAL SCIENCES, 183(1), 170–183.
author keywords: air pollution; lipids; lung; inflammation; sex differences
MeSH headings : Animals; Eicosanoids; Female; Lung; Male; Mice; Mice, Inbred C57BL; Ozone / toxicity; Sex Characteristics
TL;DR:
Data indicate that O3 drives an increased pulmonary inflammatory and bioactive lipid mediator response in females, and ovariectomy increases susceptibility to O3-induced pulmonary inflammation and injury, as well as decreases pulmonary DHA concentrations.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Sources: Web Of Science, NC State University Libraries
Added: September 27, 2021
2020 journal article
Matrix Metalloproteinase-12 Is Required for Granuloma Progression
FRONTIERS IN IMMUNOLOGY, 11.
author keywords: sarcoidosis; MMP12; PPAR gamma; MWCNT; granuloma; inflammation
MeSH headings : Animals; Granuloma / chemically induced; Granuloma / genetics; Granuloma / immunology; Granuloma / pathology; Macrophages, Alveolar / immunology; Macrophages, Alveolar / pathology; Matrix Metalloproteinase 12 / genetics; Matrix Metalloproteinase 12 / immunology; Mice; Mice, Knockout; Nanotubes, Carbon / adverse effects; Sarcoidosis, Pulmonary / chemically induced; Sarcoidosis, Pulmonary / genetics; Sarcoidosis, Pulmonary / immunology; Sarcoidosis, Pulmonary / pathology
TL;DR:
The striking reduction of granuloma formation at day 60 in Mmp12 KO mice suggests that MMP12 is required to maintain chronic granulomas pathogenesis and as a possible therapeutic target in chronic pulmonary sarcoidosis.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Source: Web Of Science
Added: October 26, 2020
2020 journal article
Personalized-induced neural stem cell therapy: Generation, transplant, and safety in a large animal model
BIOENGINEERING & TRANSLATIONAL MEDICINE, 6(1).
author keywords: glioblastoma; neural stem cells; stem cell delivery
TL;DR:
This study generates the first canine‐induced neural stem cells (iNSCs) engineered to carry TNFα‐related apoptosis‐inducing ligand and thymidine kinase (TK), as well as magnetic resonance imaging (MRI) contrast agents for in vivo tracking.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Sources: Web Of Science, NC State University Libraries
Added: August 3, 2020
2019 journal article
Alveolar Macrophage ABCG1 Deficiency Promotes Pulmonary Granulomatous Inflammation
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 61(3), 332–340.
author keywords: pulmonary sarcoidosis; granuloma; alveolar macrophage; lipid transporters; carbon nanotubes
MeSH headings : ATP Binding Cassette Transporter 1 / genetics; ATP Binding Cassette Transporter, Subfamily G, Member 1 / deficiency; ATP-Binding Cassette Transporters / genetics; Animals; Granuloma / metabolism; Inflammation / metabolism; Lung / metabolism; Macrophages, Alveolar / metabolism; Mice, Knockout; Pneumonia / metabolism; Sarcoidosis, Pulmonary / metabolism
TL;DR:
Observations indicate that the deficiency of alveolar macrophage ABCG1 promotes pulmonary granulomatous inflammation and that this is augmented by additional deletion of ABCA1.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Source: Web Of Science
Added: September 23, 2019
2019 journal article
Cardiac Leiomyosarcoma in a Cat Presenting for Bilateral Renal Neoplasia
JOURNAL OF COMPARATIVE PATHOLOGY, 168, 19–24.
author keywords: cardiac neoplasia; cat; immunohistochemistry; leiomyosarcoma
MeSH headings : Animals; Cat Diseases / pathology; Cats; Female; Heart Neoplasms / veterinary; Kidney Neoplasms / veterinary; Leiomyosarcoma / veterinary
TL;DR:
A 10-year-old neutered female domestic longhair cat was presented to a tertiary care veterinary hospital for evaluation of a right renal mass that was identified incidentally on abdominal radiographs as a sarcoma based on fine needle aspiration cytology, and diagnosed with cardiac leiomyosarcoma with pulmonary and bilateral renal metastasis.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Source: Web Of Science
Added: June 4, 2019
2018 journal article
A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers
Journal of Veterinary Internal Medicine, 32(3), 986–992.
author keywords: bone; cartilage; genetics; multiple cartilaginous exostoses; mutation; osteochondroma
MeSH headings : Animals; Cartilage / pathology; Dog Diseases / genetics; Dog Diseases / pathology; Dogs; Female; Genetic Variation / genetics; Male; Mosaicism / veterinary; N-Acetylglucosaminyltransferases / genetics; Osteochondromatosis / genetics; Osteochondromatosis / pathology; Osteochondromatosis / veterinary; Polymorphism, Single Nucleotide / genetics; Whole Genome Sequencing / veterinary
TL;DR:
The identical mutation arose de novo in a litter of American Staffordshire Terrier puppies and represents the first reported mutation associated with osteochondromatosis in dogs.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, NC State University Libraries, Crossref, ORCID
Added: August 6, 2018
2018 journal article
C/EBPβ deletion in oncogenic Ras skin tumors is a synthetic lethal event
Cell Death & Disease, 9(11).
Contributors: Z. Messenger*, J. Hall* , D. Jima*, J. House* , H. Tam, *, R. Smart*
MeSH headings : 9,10-Dimethyl-1,2-benzanthracene / administration & dosage; Animals; Apoptosis / drug effects; Apoptosis / genetics; CCAAT-Enhancer-Binding Protein-beta / deficiency; CCAAT-Enhancer-Binding Protein-beta / genetics; Cell Differentiation; Cell Transformation, Neoplastic / genetics; Cell Transformation, Neoplastic / metabolism; Cell Transformation, Neoplastic / pathology; Gene Expression Regulation, Neoplastic; Genes, Lethal; Keratinocytes / drug effects; Keratinocytes / metabolism; Keratinocytes / pathology; Mice; Mice, Knockout; Receptors, Death Domain / genetics; Receptors, Death Domain / metabolism; Signal Transduction; Skin / drug effects; Skin / metabolism; Skin / pathology; Skin Neoplasms / chemically induced; Skin Neoplasms / genetics; Skin Neoplasms / metabolism; Skin Neoplasms / pathology; Tetradecanoylphorbol Acetate / administration & dosage; Tetradecanoylphorbol Acetate / analogs & derivatives; Tumor Suppressor Protein p53 / genetics; Tumor Suppressor Protein p53 / metabolism; ras Proteins / genetics; ras Proteins / metabolism
TL;DR:
The results show that oncogenic Ras tumors display a significant DNA damage/replicative stress phenotype and these tumors have acquired a dependence on C/EBPβ for their survival, making it a promising target for future potential anticancer therapies.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Sources: Web Of Science, Crossref, NC State University Libraries, ORCID
Added: October 29, 2018
2018 journal article
PPAR-gamma pathways attenuate pulmonary granuloma formation in a carbon nanotube induced murine model of sarcoidosis
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 503(2), 684–690.
author keywords: Sarcoidosis; Granuloma; Carbon nanotube; Inflammation; Lipid transporters; Alveolar macrophage
MeSH headings : Animals; Disease Models, Animal; Dyslipidemias / etiology; Dyslipidemias / genetics; Dyslipidemias / metabolism; Dyslipidemias / pathology; Gene Expression Regulation; Granuloma / etiology; Granuloma / genetics; Granuloma / metabolism; Granuloma / pathology; Lung / metabolism; Lung / pathology; Lung Diseases / etiology; Lung Diseases / genetics; Lung Diseases / metabolism; Lung Diseases / pathology; Macrophages, Alveolar / metabolism; Macrophages, Alveolar / pathology; Mice, Inbred C57BL; Nanotubes, Carbon / adverse effects; PPAR gamma / agonists; PPAR gamma / metabolism; Sarcoidosis / etiology; Sarcoidosis / genetics; Sarcoidosis / metabolism; Sarcoidosis / pathology; Signal Transduction
TL;DR:
Results indicate that restoration of homeostatic ABCG1 levels by rosiglitazone correlates with both reduced pulmonary lipid accumulation, and decreased alveolar macrophage activation, which confirm and further support the previous observations that PPARγ pathways are critical in regulating MWCNT-induced pulmonary granulomatous inflammation.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Source: Web Of Science
Added: October 19, 2018
2018 journal article
Role of p53 in the chronic pulmonary immune response to tangled or rod-like multi-walled carbon nanotubes
NANOTOXICOLOGY, 12(9), 975–991.
author keywords: Caron nanotubes; immunotoxicology; cancer; granuloma; p53
MeSH headings : Animals; Dose-Response Relationship, Drug; Granuloma, Respiratory Tract / chemically induced; Granuloma, Respiratory Tract / genetics; Granuloma, Respiratory Tract / immunology; Inhalation Exposure; Lung / drug effects; Lung / immunology; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Nanotubes, Carbon / chemistry; Nanotubes, Carbon / toxicity; Surface Properties; Tertiary Lymphoid Structures / chemically induced; Tertiary Lymphoid Structures / genetics; Tertiary Lymphoid Structures / immunology; Tumor Suppressor Protein p53 / genetics; Tumor Suppressor Protein p53 / physiology
TL;DR:
Findings indicate that a combination of p53 deficiency and physicochemical characteristics including nanotube geometry are factors in susceptibility to MWCNT-induced lymphoid infiltration and granuloma formation.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, NC State University Libraries
Added: March 4, 2019
2017 journal article
Disruption of Trim9 function abrogates macrophage motility in vivo
Journal of Leukocyte Biology, 102(6), 1371–1380.
author keywords: chemotaxis; zebrafish; leukocyte; ubiquitin
MeSH headings : Animals; Cell Movement / genetics; Cell Shape; Chemotaxis; Humans; Macrophages / cytology; Macrophages / metabolism; Nerve Tissue Proteins / genetics; Nerve Tissue Proteins / metabolism; RNA, Messenger / genetics; RNA, Messenger / metabolism; Tripartite Motif Proteins / genetics; Tripartite Motif Proteins / metabolism; U937 Cells; Ubiquitin-Protein Ligases / genetics; Ubiquitin-Protein Ligases / metabolism; Zebrafish / genetics; Zebrafish / immunology; Zebrafish Proteins / genetics; Zebrafish Proteins / metabolism
TL;DR:
It is demonstrated that Trim9 mediates cellular movement and migration in Mϕs as well as neurons, and is implicated in axonal migration, and found that M ϕ chemotaxis and cellular architecture are subsequently impaired in vivo.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, ORCID, NC State University Libraries, Crossref
Added: August 6, 2018
2017 journal article
Loss of DNA methylation in zebrafish embryos activates retrotransposons to trigger antiviral signaling
Development, 144(16), 2925–2939.
author keywords: Transposon; DNA methylation; Uhrf1; Interferon; Antiviral
MeSH headings : Animals; DNA (Cytosine-5-)-Methyltransferase 1; DNA (Cytosine-5-)-Methyltransferases / genetics; DNA (Cytosine-5-)-Methyltransferases / metabolism; DNA Methylation / genetics; DNA Methylation / physiology; Retroelements / genetics; Signal Transduction / genetics; Signal Transduction / physiology; Trans-Activators / genetics; Trans-Activators / metabolism; Zebrafish / embryology; Zebrafish / metabolism; Zebrafish Proteins / genetics; Zebrafish Proteins / metabolism
TL;DR:
Activation of transposons in cells with global DNA hypomethylation mimics a viral infection by activating cytoplasmic DNA viral sensors suggests that antiviral pathways serve as surveillance of cells that have derepressed intragenomic parasites due to DNA hypometrichylations.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, ORCID, NC State University Libraries, Crossref
Added: August 6, 2018
2016 journal article
Angiopellosis as an Alternative Mechanism of Cell Extravasation
STEM CELLS, 35(1), 170–180.
author keywords: Extravasation; Angiopellosis; Transmigration; Stem cell infusion; Diapedesis
MeSH headings : Animals; Blood Vessels / physiology; CD11 Antigens / metabolism; Cell Aggregation; Cell Membrane / metabolism; Cell Shape; Dogs; Extravasation of Diagnostic and Therapeutic Materials / pathology; Female; Humans; Injections; Intravital Microscopy; Male; Mesenchymal Stem Cells; Microspheres; Myocytes, Cardiac / cytology; Polymers / chemistry; Rats; Time Factors; Transendothelial and Transepithelial Migration; Zebrafish / metabolism
TL;DR:
In injected cardiac and mesenchymal stem cells, the vascular wall undergoes an extensive remodeling to allow the cell to exit the lumen, while the injected cell remains distinctively passive in activity.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Sources: Web Of Science, ORCID, NC State University Libraries, Crossref
Added: August 6, 2018
2012 journal article
B-cell lymphoma with plasmacytoid differentiation, atypical cytoplasmic inclusions, and secondary leukemia in a dog
Veterinary Clinical Pathology, 42(1), 40–46.
author keywords: Clonality; immunophenotype; lymphocyte; MUM-1; Russell body
MeSH headings : Animals; Antineoplastic Combined Chemotherapy Protocols; Dog Diseases / drug therapy; Dog Diseases / pathology; Dogs; Fatal Outcome; Inclusion Bodies / pathology; Leukemia / complications; Leukemia / drug therapy; Leukemia / veterinary; Lymphoma, B-Cell / complications; Lymphoma, B-Cell / drug therapy; Lymphoma, B-Cell / pathology; Lymphoma, B-Cell / veterinary; Male
TL;DR:
This case extends the morphologic repertoire of canine plasmacytoid neoplasms and emphasizes their continuum with multicentric lymphoma, and demonstrates the need for advanced diagnostic techniques in establishing blood involvement in lymphoma in some instances.
(via Semantic Scholar)
Source: Crossref
Added: July 28, 2019
2012 journal article
Intrathoracic pulsion diverticulum in a horse
Canadian Veterinary Journal, 53, 408–411.
Source: NC State University Libraries
Added: July 28, 2019
2011 journal article
Amanitin Toxicosis in Two Cats with Acute Hepatic and Renal Failure
Veterinary Pathology, 49(6), 1032–1035.
author keywords: amanitins; cats; gastrointestinal tract; kidney; liver; mushroom poisoning
MeSH headings : Alanine Transaminase / metabolism; Alpha-Amanitin / poisoning; Animals; Cat Diseases / etiology; Cat Diseases / pathology; Cats; Diagnosis, Differential; Fatal Outcome; Female; Gastrointestinal Tract / pathology; Humans; Kidney / pathology; Lethargy / veterinary; Liver / pathology; Liver Failure / etiology; Liver Failure / pathology; Liver Failure / veterinary; Male; Mushroom Poisoning / pathology; Mushroom Poisoning / veterinary; Necrosis / veterinary; Renal Insufficiency / etiology; Renal Insufficiency / pathology; Renal Insufficiency / veterinary
TL;DR:
Amanitin exposure was confirmed postmortem by detection of α-amanitin in the kidney by liquid chromatography–mass spectrometry and a similar clinical course and pathological changes are reported in human and canine amanitin intoxication.
(via Semantic Scholar)
Source: Crossref
Added: July 28, 2019
2010 journal article
Salmon Poisoning Disease in Dogs: 29 Cases
Journal of Veterinary Internal Medicine, 24(3), 504–513.
author keywords: Fish; Nanophyetus salmincola; Rickettsia; Trematode; Ultrasound
MeSH headings : Animal Feed; Animals; Anthelmintics / therapeutic use; Anti-Bacterial Agents / therapeutic use; California; Dog Diseases / drug therapy; Dog Diseases / epidemiology; Dog Diseases / parasitology; Dogs; Female; Food Parasitology; Foodborne Diseases / veterinary; Male; Rickettsia Infections / drug therapy; Rickettsia Infections / epidemiology; Rickettsia Infections / veterinary; Salmon; Treatment Outcome; Trematoda / microbiology; Trematode Infections / drug therapy; Trematode Infections / parasitology; Trematode Infections / veterinary
TL;DR:
SPD should be suspected in dogs with inappetence, gastrointestinal, or neurologic signs, with or without fever or peripheral lymphadenomegaly in the appropriate geographical setting, and treated with tetracycline antimicrobials.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(OpenAlex)
Source: Crossref
Added: July 28, 2019
2008 journal article
Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease
The American Journal of Human Genetics, 82(3), 780–785.
MeSH headings : Amino Acid Sequence; Axons / physiology; Carboxylic Ester Hydrolases / genetics; Chromosome Mapping; Female; Genetic Linkage; Humans; Male; Molecular Sequence Data; Motor Neuron Disease / genetics; Mutation; Pedigree
TL;DR:
Disease-specific, nonconserved NTE mutations in unrelated MND patients indicates NTE's importance in maintaining axonal integrity, raises the possibility that NTE pathway disturbances contribute to other MNDs including ALS, and supports the role of NTE abnormalities in axonopathy produced by neuropathic OP compounds.
(via Semantic Scholar)
Source: Crossref
Added: July 28, 2019
2005 journal article
Molecular characterization of isosporoid coccidia (Isospora and Atoxoplasma spp.) in passerine birds.
Journal of Parasitology, 91(3), 635–647.
MeSH headings : Animals; Base Sequence; Bird Diseases / parasitology; Coccidiosis / parasitology; Coccidiosis / veterinary; DNA, Protozoan / chemistry; DNA, Protozoan / isolation & purification; Eimeriidae / classification; Eimeriidae / genetics; Eimeriidae / ultrastructure; Genotype; HSP70 Heat-Shock Proteins / genetics; Isospora / classification; Isospora / genetics; Isospora / ultrastructure; Molecular Sequence Data; Passeriformes / parasitology; Phylogeny; Polymerase Chain Reaction / veterinary; RNA, Ribosomal / genetics; Sequence Alignment
TL;DR:
It is suggested that these parasites, whether identified from blood merozoite stages or fecal oocysts, be provisionally grouped as a homogeneous clade of individual species in a single taxon and formally named when reliable criteria allowing reclassification of related genera in the suborder Eimeriina are clarified.
(via Semantic Scholar)
Source: Crossref
Added: December 31, 2020
2004 journal article
Myofibrillogenesis Regulator 1 Gene Mutations Cause Paroxysmal Dystonic Choreoathetosis
Archives of Neurology, 61(7), 1025–1029.
MeSH headings : Athetosis / genetics; Athetosis / physiopathology; Chorea / genetics; Chorea / physiopathology; Chromosomes, Human, Pair 2 / genetics; Dystonia / genetics; Dystonia / physiopathology; Female; Genes, Regulator / genetics; Genes, Regulator / physiology; Genetic Linkage / genetics; Haplotypes / genetics; Humans; Male; Muscle Development / genetics; Mutation; Pedigree; Physical Chromosome Mapping
TL;DR:
The discovery that MR-1 mutations underlie PDC provides opportunities to explore this condition's pathophysiologic characteristics and may provide insight into the causes of other paroxysmal neurologic disorders as well as the neurophysiologic mechanisms of alcohol and caffeine, which frequently precipitate PDC attacks.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(OpenAlex)
Source: Crossref
Added: December 31, 2020
2003 journal article
NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)
The American Journal of Human Genetics, 73(4), 967–971.
MeSH headings : Base Sequence; Female; Genes, Dominant; Humans; Male; Membrane Proteins / genetics; Models, Molecular; Mutation; Pedigree; Protein Structure, Secondary; Reference Values; Spastic Paraplegia, Hereditary / genetics
TL;DR:
Identification of the NIPA1 function and ligand will aid an understanding of axonal neurodegeneration in HSP and may have important therapeutic implications.
(via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(OpenAlex)
Source: Crossref
Added: July 28, 2019
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