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Tytuł:
NDRG1 is induced by antigen-receptor signaling but dispensable for B and T cell self-tolerance.
Autorzy:
Hodgson R; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Xu X; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Anzilotti C; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Deobagkar-Lele M; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Crockford TL; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Kepple JD; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Cawthorne E; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Bhandari A; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Cebrian-Serrano A; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Wilcock MJ; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Davies B; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Cornall RJ; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK. .; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK. .
Bull KR; MRC Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK. .; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK. .
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Źródło:
Communications biology [Commun Biol] 2022 Nov 10; Vol. 5 (1), pp. 1216. Date of Electronic Publication: 2022 Nov 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Refsum Disease*/genetics
Refsum Disease*/metabolism
Charcot-Marie-Tooth Disease*/genetics
Mice ; Animals ; T-Lymphocytes ; Immune Tolerance ; Lymphocyte Activation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease.
Autorzy:
Wegrzyn AB; Systems Medicine of Metabolism and Signalling, Laboratory of Paediatrics, University of Groningen, University Medical Centre Groningen, The Netherlands.; Analytical Biosciences and Metabolomics, Division of Systems Biomedicine and Pharmacology, Leiden Academic Centre for Drug Research, Leiden University, The Netherlands.
Herzog K; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Location AMC, University of Amsterdam, The Netherlands.; Centre for Analysis and Synthesis, Department of Chemistry, Lund University, Sweden.
Gerding A; Systems Medicine of Metabolism and Signalling, Laboratory of Paediatrics, University of Groningen, University Medical Centre Groningen, The Netherlands.; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, The Netherlands.
Kwiatkowski M; Pharmacokinetics, Toxicology and Targeting, Groningen Research Institute of Pharmacy (GRIP), University of Groningen, The Netherlands.; Mass Spectrometric Proteomics and Metabolomics, Institute of Biochemistry, University of Innsbruck, Austria.
Wolters JC; Laboratory of Paediatrics, University Medical Centre Groningen, University of Groningen, The Netherlands.
Dolga AM; Department of Molecular Pharmacology, Groningen Research Institute of Pharmacy, University of Groningen, The Netherlands.
van Lint AEM; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Location AMC, University of Amsterdam, The Netherlands.
Wanders RJA; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Location AMC, University of Amsterdam, The Netherlands.
Waterham HR; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Location AMC, University of Amsterdam, The Netherlands.
Bakker BM; Systems Medicine of Metabolism and Signalling, Laboratory of Paediatrics, University of Groningen, University Medical Centre Groningen, The Netherlands.
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Źródło:
The FEBS journal [FEBS J] 2020 Dec; Vol. 287 (23), pp. 5096-5113. Date of Electronic Publication: 2020 Mar 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Metabolome*
Proteome*
Transcriptome*
Amino Acids/*metabolism
Biomarkers/*analysis
Fibroblasts/*pathology
Refsum Disease/*pathology
Fibroblasts/metabolism ; Gene Expression Regulation ; Humans ; Refsum Disease/genetics ; Refsum Disease/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
Autorzy:
Pravinbabu P; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Holla VV; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
Phulpagar P; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.; Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
Kamble N; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
Netravathi M; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
Yadav R; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
Pal PK; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India. .
Muthusamy B; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India. .; Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Jul; Vol. 43 (7), pp. 4463-4472. Date of Electronic Publication: 2022 Feb 11.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Charcot-Marie-Tooth Disease*/genetics
RNA Splice Sites*/genetics
Adolescent ; Humans ; Male ; Mutation/genetics ; Nucleotides ; Refsum Disease
SCR Disease Name:
Neuropathy, hereditary motor and sensory, LOM type
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.
Autorzy:
Piscosquito G; Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Magri S; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Saveri P; Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Milani M; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Ciano C; Neurophysiopathology and Epilepsy Centre, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Farina L; Unit of Neuroradiology, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
Pareyson D; Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
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Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2017 Mar; Vol. 22 (1), pp. 47-50.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Cycle Proteins/*genetics
Charcot-Marie-Tooth Disease/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
Mutation/*genetics
Refsum Disease/*genetics
Adult ; Cerebellum/diagnostic imaging ; Charcot-Marie-Tooth Disease/diagnostic imaging ; DNA Mutational Analysis ; Female ; Humans ; Magnetic Resonance Imaging ; Medulla Oblongata/diagnostic imaging ; Refsum Disease/diagnostic imaging ; Spinal Cord/diagnostic imaging
SCR Disease Name:
Neuropathy, hereditary motor and sensory, LOM type
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
CMT4D (NDRG1 mutation): genotype-phenotype correlations.
Autorzy:
Ricard E; Service et Laboratoire de Neurologie, Centre de Référence Neuropathies Périphériques Rares, CHU Limoges, Limoges, France.
Mathis S
Magdelaine C
Delisle MB
Magy L
Funalot B
Vallat JM
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Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2013 Sep; Vol. 18 (3), pp. 261-5.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cell Cycle Proteins/*genetics
Charcot-Marie-Tooth Disease/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
Mutation/*genetics
Refsum Disease/*genetics
Charcot-Marie-Tooth Disease/pathology ; Child ; Genotype ; Humans ; Male ; Microscopy, Electron, Transmission ; Phenotype ; Refsum Disease/pathology ; Sural Nerve/pathology ; Sural Nerve/ultrastructure
SCR Disease Name:
Neuropathy, hereditary motor and sensory, LOM type
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.
Autorzy:
Zeharia A; Day Hospitalization Unit, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petach Tikvah, Israel.
Ebberink MS; Departments of Clinical Chemistry and Pediatrics, Academic Medical Centre, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Wanders RJA; Departments of Clinical Chemistry and Pediatrics, Academic Medical Centre, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Waterham HR; Departments of Clinical Chemistry and Pediatrics, Academic Medical Centre, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Gutman A; Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Nissenkorn A; Pediatric Neurology Unit, Safra Children's Hosptial, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Tel Hashomer, Israel.
Korman SH; Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. .; Metabolic Diseases Unit, Division of Pediatrics, Hadassah-Hebrew University Medical Center, POB 12000, Jerusalem, Israel. .
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Źródło:
Journal of human genetics [J Hum Genet] 2007; Vol. 52 (7), pp. 599-606. Date of Electronic Publication: 2007 May 30.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mosaicism*
Catalase/*metabolism
Fibroblasts/*chemistry
Fibroblasts/*metabolism
Membrane Proteins/*genetics
Peroxisomes/*genetics
Peroxisomes/*metabolism
Refsum Disease, Infantile/*genetics
Catalase/chemistry ; Catalase/genetics ; Cells, Cultured ; Child, Preschool ; Cholestasis/genetics ; Cholestasis/pathology ; Fibroblasts/pathology ; Fluorescent Antibody Technique ; Hot Temperature ; Humans ; Infant ; Infant, Newborn ; Male ; Peroxisomes/pathology ; Phenotype ; Refsum Disease, Infantile/enzymology ; Refsum Disease, Infantile/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Hearing loss in adult Refsum's disease.
Autorzy:
Bamiou DE; Neuro-otology Department, National Hospital for Neurology and Neurosurgery, London, UK. />Spraggs PR
Gibberd FB
Sidey MC
Luxon LM
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Źródło:
Clinical otolaryngology and allied sciences [Clin Otolaryngol Allied Sci] 2003 Jun; Vol. 28 (3), pp. 227-30.
Typ publikacji:
Journal Article
MeSH Terms:
Evoked Potentials, Auditory, Brain Stem*
Acoustic Impedance Tests/*methods
Audiometry, Pure-Tone/*methods
Hearing Loss, Sensorineural/*etiology
Refsum Disease/*complications
Adult ; Aged ; Diet Therapy ; Eye Movements ; Gait ; Hearing Loss, Sensorineural/physiopathology ; Humans ; Middle Aged ; Otoscopy ; Phytanic Acid/metabolism ; Reflex, Acoustic ; Refsum Disease/diagnosis ; Refsum Disease/physiopathology ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Identification of genetic heterogeneity in Refsum's disease.
Autorzy:
Wierzbicki AS; Department of Chemical Pathology, King's Guy's & St Thomas' Medical School, King' College, London, UK. />Mitchell J
Lambert-Hammill M
Hancock M
Greenwood J
Sidey MC
de Belleroche J
Gibberd FB
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Aug; Vol. 8 (8), pp. 649-51.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Heterogeneity*
Chromosomes, Human, Pair 10/*genetics
Mixed Function Oxygenases/*genetics
Refsum Disease/*genetics
Chromosome Mapping ; Consanguinity ; Female ; Genes, Recessive ; Genetic Linkage ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Pedigree ; Refsum Disease/enzymology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phytyl fatty acid esters in vegetables pose a risk for patients suffering from Refsum's disease.
Autorzy:
Krauß S; Institute of Food Chemistry, University of Hohenheim, Stuttgart, Germany.
Michaelis L; Institute of Food Chemistry, University of Hohenheim, Stuttgart, Germany.
Vetter W; Institute of Food Chemistry, University of Hohenheim, Stuttgart, Germany.
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Źródło:
PloS one [PLoS One] 2017 Nov 13; Vol. 12 (11), pp. e0188035. Date of Electronic Publication: 2017 Nov 13 (Print Publication: 2017).
Typ publikacji:
Journal Article
MeSH Terms:
Fatty Acids/*metabolism
Phytanic Acid/*metabolism
Refsum Disease/*metabolism
Vegetables/*metabolism
Gas Chromatography-Mass Spectrometry ; Humans ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis
Autorzy:
Jeffrey J. Li
Jane J. Kim
Fauzia Nausheen
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Temat:
adult Refsum disease
rare disease
phytanic acid
quality of life
retinitis pigmentosa
PHYH
Nutrition. Foods and food supply
TX341-641
Źródło:
Nutrients, Vol 15, Iss 11, p 2551 (2023)
Opis pliku:
electronic resource
Relacje:
https://www.mdpi.com/2072-6643/15/11/2551; https://doaj.org/toc/2072-6643
Dostęp URL:
https://doaj.org/article/b685a976a0c34a35afe99d798945785e  Link otwiera się w nowym oknie
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 363

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