Výsledky vyhledávání - "Hereditary Central Nervous System Demyelinating Diseases: genetics"

Heterozygous de novo variants inHSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation

Autoři: Marina Eskin-Schwartz Shaikah Seraidy Eyal Paz a další

Zdroj: Eskin-Schwartz, M, Seraidy, S, Paz, E, Molhem, M, Ranza, E, Antonarakis, S E, Blanc, X, Herman, K, Benko, W S, Libzon, S, Ben Sira, L, Fattal-Valevski, A, Dolgin, V, Birk, O S, Kessel, A, Bross, P, Weiss, C, Azem, A & Zerem, A 2024, 'Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.', Journal of Medical Genetics, vol. 62, no. 1, jmg-2024-109862, pp. 15-24. https://doi.org/10.1136/jmg-2024-109862

Témata: Male, 0301 basic medicine, Heterozygote, 0303 health sciences, Mutation/genetics, Genetic Diseases, Inborn, Protein Multimerization/genetics, Chaperonin 60, Mitochondrial Proteins, Hereditary Central Nervous System Demyelinating Diseases, 03 medical and health sciences, Phenotype, Child, Preschool, Mitochondrial Proteins/genetics, Exome Sequencing, Mutation, Chaperonin 60/genetics, Humans, Female, Hereditary Central Nervous System Demyelinating Diseases/genetics, Protein Multimerization, Child

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39500555

Neuroglial Pathophysiology of Leukodystrophies

Autoři: Verkhratsky, Alexei Niu, Jianqin Yi, Chenju a další

Přispěvatelé: Verkhratsky, Alexei Niu, Jianqin Yi, Chenju a další

Zdroj: Advances in Neurobiology ISBN: 9783031879180
Verkhratsky, A, Niu, J, Yi, C & Butt, A 2025, Neuroglial Pathophysiology of Leukodystrophies. in C Y, A B, A V & J N (eds), Physiology and Pathophysiology of Oligodendroglia . vol. 43, Advances in Neurobiology, Springer Nature, pp. 257-279. https://doi.org/10.1007/978-3-031-87919-7_10

Témata: Oligodendroglia/pathology, Leukoencephalopathies/genetics, White Matter/pathology, Astrocytes/pathology, Microglia/pathology, Humans, Animals, Hereditary Central Nervous System Demyelinating Diseases/genetics, Neuroglia/pathology

Přístupová URL adresa: https://research.manchester.ac.uk/en/publications/84468452-a91f-4abb-ba76-638e64331b1e
https://doi.org/10.1007/978-3-031-87919-7_10

Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema: old and new players in controlling brain oedema

Autoři: Emma M J Passchier Sven Kerst Eelke Brouwers a další

Přispěvatelé: Emma M J Passchier Sven Kerst Eelke Brouwers a další

Zdroj: Brain
van der Knaap, M S 2023, 'Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema', Brain : a journal of neurology, vol. 146, no. 8, pp. 3444-3454. https://doi.org/10.1093/brain/awad146
Brain, Volume 146, Issue 8, August 2023, Pages 3444–3454

Témata: leukodystrophy, Mutation/genetics, Clinical Neurology, aquaporin-4, Brain Edema, Astrocytes/metabolism, Receptors, G-Protein-Coupled, SDG 3 - Good Health and Well-being, Receptors, Brain/metabolism, Humans, Brain Edema/genetics, Hereditary Central Nervous System Demyelinating Diseases/genetics, Membrane Proteins/genetics, GPRC5B, G-Protein-Coupled/genetics, brain oedema, Aquaporin 4, Cysts, Brain, Membrane Proteins, 3. Good health, Hereditary Central Nervous System Demyelinating Diseases, Aquaporin 4/genetics, Astrocytes, Mutation, volume regulation, Original Article, Receptors, G-Protein-Coupled/genetics

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37143309
https://hdl.handle.net/1871.1/47fe734e-683b-4a91-8235-87f34927554c
https://doi.org/10.1093/brain/awad146
https://research.vu.nl/en/publications/47fe734e-683b-4a91-8235-87f34927554c
https://hdl.handle.net/20.500.11755/7e5bd869-d67a-49e4-bf89-56e73ebcc661
https://doi.org/10.1093/brain/awad146
https://pure.knaw.nl/portal/en/publications/7e5bd869-d67a-49e4-bf89-56e73ebcc661
https://research-portal.uu.nl/en/publications/b46c8f20-0894-47e6-a101-8c69e1918074
https://doi.org/10.1093/brain/awad146
https://research.vumc.nl/en/publications/1d09f054-a3a4-4412-bad2-92db81bea7af
https://pure.amsterdamumc.nl/en/publications/5e196826-be63-441a-8dfe-5580b9ff4219
https://doi.org/10.1093/brain/awad146
https://dspace.library.uu.nl/handle/1874/435029

Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema

Autoři: Passchier, Emma M J Kerst, Sven Brouwers, Eelke a další

Přispěvatelé: Passchier, Emma M J Kerst, Sven Brouwers, Eelke a další

Témata: Aquaporin 4/genetics, Astrocytes/metabolism, Brain Edema/genetics, Brain/metabolism, Hereditary Central Nervous System Demyelinating Diseases/genetics, Humans, Membrane Proteins/genetics, Mutation/genetics, Receptors, G-Protein-Coupled/genetics, aquaporin-4, leukodystrophy, GPRC5B, brain oedema, volume regulation, Clinical Neurology

Popis souboru: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/435029

Dostupnost: https://dspace.library.uu.nl/handle/1874/435029

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Autoři: Thiffault, Isabelle Wolf, Nicole I. Forget, Diane a další

Zdroj: Neurology Faculty Publications

Témata: DNA-Directed RNA Polymerases--metabolism, Genes, Recessive, Genetic Predisposition to Disease, Hereditary Central Nervous System Demyelinating Diseases--genetics, Neurology

Popis souboru: application/pdf

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/259; https://hsrc.himmelfarb.gwu.edu/context/smhs_neuro_facpubs/article/1260/viewcontent/Recessive_mutations_in_POLR1C_cause_a_leukodystrophy_by_impairing_biogenesis_of_RNA_polymerase_III.pdf

Dostupnost: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/259
https://doi.org/10.1038/ncomms8623
https://hsrc.himmelfarb.gwu.edu/context/smhs_neuro_facpubs/article/1260/viewcontent/Recessive_mutations_in_POLR1C_cause_a_leukodystrophy_by_impairing_biogenesis_of_RNA_polymerase_III.pdf

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Autoři: Pelletier, Félixe Perrier, Stefanie Naidu, Sakkubai a další

Zdroj: The journal of clinical endocrinology & metabolism 106(2), e660 - e674 (2021). doi:10.1210/clinem/dgaa700

Témata: info:eu-repo/classification/ddc/610, Adolescent, Adult, Biological Variation, Population, Child, Preschool, Cohort Studies, Cross-Sectional Studies, DNA-Directed RNA Polymerases: genetics, Endocrine System Diseases: epidemiology, Endocrine System Diseases: etiology, Endocrine System Diseases: genetics, Female, Genetic Heterogeneity, Growth Disorders: epidemiology, Growth Disorders: etiology, Growth Disorders: genetics, Hereditary Central Nervous System Demyelinating Diseases: complications, Hereditary Central Nervous System Demyelinating Diseases: epidemiology, Hereditary Central Nervous System Demyelinating Diseases: genetics, Humans, Hypogonadism: epidemiology, Hypogonadism: etiology, Infant, Newborn, Male, Mitochondrial Diseases: complications, Mitochondrial Diseases: epidemiology, Mitochondrial Diseases: genetics

Geografické téma: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1945-7197; info:eu-repo/semantics/altIdentifier/pmid/pmid:33005949; info:eu-repo/semantics/altIdentifier/issn/2578-7241; info:eu-repo/semantics/altIdentifier/issn/0021-972X; info:eu-repo/semantics/altIdentifier/issn/0368-1610; https://pub.dzne.de/record/164192

Dostupnost: https://pub.dzne.de/record/164192
https://pub.dzne.de/search?p=id:%22DZNE-2022-00848%22

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

Autoři: Gotoh, Leo Inoue, Ken Helman, Guy a další

Zdroj: Neurology Faculty Publications

Témata: Connexins--genetics, Hereditary Central Nervous System Demyelinating Diseases--genetics, Promoter Regions, Genetic, SOXE Transcription Factors--metabolism, Adult, Binding Sites, Child, Connexins, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Male, Molecular Sequence Data, Mutation, Myelin Sheath, Protein Binding, SOXE Transcription Factors, Neurology

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/202; http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=24374284

Dostupnost: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/202
http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=24374284

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Autoři: Wolf, Nicole I. Vanderver, Adeline van Spaendonk, Rosalina M. a další

Zdroj: Neurology Faculty Publications

Témata: Hereditary Central Nervous System Demyelinating Diseases--diagnosis, Hereditary Central Nervous System Demyelinating Diseases--genetics, Mitochondrial Diseases--diagnosis, Mitochondrial Diseases--genetics, Mutation--genetics, RNA Polymerase III--genetics, Neurology

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/180; http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=25339210

Dostupnost: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/180
http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=25339210

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Autoři: Daoud, Hussein Tétreault, Martine Gibson, William a další

Zdroj: Neurology Faculty Publications

Témata: Hereditary Central Nervous System Demyelinating Diseases--genetics, Hypogonadism--genetics, Mutation, RNA Polymerase III--genetics, Tooth Abnormalities--genetics, Neurology

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/24; http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=23355746

Dostupnost: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/24
http://www.ncbi.nlm.nih.gov/pubmed?holding=dcgwulib_fft_ndi&dr=abstract&otool=dcgwulib&term=23355746

Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.

Autoři: Synofzik, Matthis Bernard, Geneviève Lindig, Tobias a další

Zdroj: Neurology 81(19), e145-e145 (2013). doi:10.1212/01.wnl.0000435300.64776.7e

Témata: info:eu-repo/classification/ddc/610, Adolescent, Anodontia: complications, Anodontia: genetics, Anodontia: pathology, Female, Hereditary Central Nervous System Demyelinating Diseases: complications, Hereditary Central Nervous System Demyelinating Diseases: genetics, Hereditary Central Nervous System Demyelinating Diseases: pathology, Humans, Magnetic Resonance Imaging, Mouth: pathology, RNA Polymerase III: genetics, POLR3B protein, human, RNA Polymerase III

Geografické téma: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/pmid/pmid:24190003; info:eu-repo/semantics/altIdentifier/issn/0028-3878; https://pub.dzne.de/record/137248

Dostupnost: https://pub.dzne.de/record/137248
https://pub.dzne.de/search?p=id:%22DZNE-2020-03570%22