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  1. Article ; Online: Authors' response to: "Alexander disease genetics: Beyond GFAP exon sequencing?"

    Alexander, Abigail L / Lim, Swee Yang / Massingham, Lauren J / Phillips, Oliver / Chambers, Mary-Kathryn / Donahue, John E

    Journal of neuropathology and experimental neurology

    2023  Volume 83, Issue 1, Page(s) 67–68

    MeSH term(s) Humans ; Alexander Disease/genetics ; Glial Fibrillary Acidic Protein/genetics ; Brain ; Exons ; Mutation
    Chemical Substances Glial Fibrillary Acidic Protein
    Language English
    Publishing date 2023-11-22
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 3088-0
    ISSN 1554-6578 ; 0022-3069
    ISSN (online) 1554-6578
    ISSN 0022-3069
    DOI 10.1093/jnen/nlad101
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  2. Article ; Online: Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review.

    Alexander, Abigail L / Lim, Swee Yang / Massingham, Lauren J / Phillips, Oliver / Chambers, Mary-Kathryn / Donahue, John E

    Journal of neuropathology and experimental neurology

    2022  Volume 81, Issue 12, Page(s) 1033–1036

    MeSH term(s) Humans ; Alexander Disease/genetics ; Alexander Disease/pathology ; Autopsy ; Glial Fibrillary Acidic Protein/genetics ; Glial Fibrillary Acidic Protein/metabolism ; Brain/pathology ; Mutation
    Chemical Substances Glial Fibrillary Acidic Protein
    Language English
    Publishing date 2022-09-20
    Publishing country England
    Document type Review ; Case Reports ; Letter ; Comment
    ZDB-ID 3088-0
    ISSN 1554-6578 ; 0022-3069
    ISSN (online) 1554-6578
    ISSN 0022-3069
    DOI 10.1093/jnen/nlac086
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  3. Article ; Online: Response to Michiel Alexander de Raaf et al.

    Yang, Qifeng / Hou, Chi / Yang, Kai / Wang, Jian / Chen, Yuqin

    Hypertension research : official journal of the Japanese Society of Hypertension

    2021  Volume 44, Issue 4, Page(s) 475–476

    Language English
    Publishing date 2021-01-14
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 1175297-x
    ISSN 1348-4214 ; 0916-9636
    ISSN (online) 1348-4214
    ISSN 0916-9636
    DOI 10.1038/s41440-020-00605-x
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  4. Article ; Online: Isolated Myoclonus of the Vocal Folds in Alexander Disease.

    Fan, Siyuan / Zhao, Yang / Guan, Hongzhi

    JAMA neurology

    2021  Volume 79, Issue 2, Page(s) 197

    MeSH term(s) Alexander Disease/complications ; Alexander Disease/physiopathology ; Female ; Gait Disorders, Neurologic ; Glial Fibrillary Acidic Protein/genetics ; Humans ; Hypotension, Orthostatic ; Laryngoscopy ; Middle Aged ; Myoclonus/etiology ; Myoclonus/physiopathology ; Vocal Cords/physiopathology
    Chemical Substances GFAP protein, human ; Glial Fibrillary Acidic Protein
    Language English
    Publishing date 2021-12-20
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2702023-X
    ISSN 2168-6157 ; 2168-6149
    ISSN (online) 2168-6157
    ISSN 2168-6149
    DOI 10.1001/jamaneurol.2021.4707
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  5. Article ; Online: Re: David Musheyev, Alexander Pan, Stacy Loeb, Abdo E. Kabarriti. How Well Do Artificial Intelligence Chatbots Respond to the Top Search Queries About Urological Malignancies? Eur Urol 2023;85:13-6.

    Deng, Qi-Fei / Bao, Yuan-Yuan / Yang, Yuan-Yuan / Mao, Chang-Kun

    European urology

    2024  

    Language English
    Publishing date 2024-04-20
    Publishing country Switzerland
    Document type Letter
    ZDB-ID 193790-x
    ISSN 1873-7560 ; 1421-993X ; 0302-2838
    ISSN (online) 1873-7560 ; 1421-993X
    ISSN 0302-2838
    DOI 10.1016/j.eururo.2024.02.031
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  6. Article: A review of genus Grahamomyia Alexander, 1935 (Diptera, Limoniidae)

    Zhang, Bing / Ren, Jin-Long / Yang, Qi-Cheng / Yang, Ding

    Journal of Asia-Pacific entomology. 2021 May 06,

    2021  

    Abstract: Only one species of the genus Grahamomyia Alexander, 1935 was previously known from the world. Here ... one new species, Grahamomyia bilobulasp. nov., is reported from China. Grahamomyia bicellula Alexander ...

    Abstract Only one species of the genus Grahamomyia Alexander, 1935 was previously known from the world. Here one new species, Grahamomyia bilobulasp. nov., is reported from China. Grahamomyia bicellula Alexander, 1935 is re-described and illustrated. A key to the known species of Grahamomyia is presented.LSID: urn:lsid:zoobank.org:pub:A18E32D8-B017-46FF-B05B-B664AF988F1B.
    Keywords Limoniidae ; entomology ; new species ; China
    Language English
    Dates of publication 2021-0506
    Publishing place Elsevier B.V.
    Document type Article
    Note NAL-AP-2-clean ; Pre-press version
    ISSN 1226-8615
    DOI 10.1016/j.aspen.2021.05.002
    Database NAL-Catalogue (AGRICOLA)

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  7. Article ; Online: Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.

    Yang, Ai-Wen / Lin, Ni-Hsuan / Yeh, Ting-Hung / Snider, Natasha / Perng, Ming-Der

    Molecular biology of the cell

    2022  Volume 33, Issue 8, Page(s) ar69

    Abstract: Alexander disease is a primary genetic disorder of astrocytes caused by dominant mutations ... also observed in brain tissues of patients with Alexander disease, in which a significant proportion ... for the pathogenesis of Alexander disease. ...

    Abstract Alexander disease is a primary genetic disorder of astrocytes caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP). How single-amino-acid changes can lead to cytoskeletal catastrophe and brain degeneration remains poorly understood. In this study, we have analyzed 14 missense mutations located in the GFAP rod domain to investigate how these mutations affect in vitro filament assembly. Whereas the internal rod mutants assembled into filaments that were shorter than those of wild type, the rod end mutants formed structures with one or more of several atypical characteristics, including short filament length, irregular width, roughness of filament surface, and filament aggregation. When transduced into primary astrocytes, GFAP mutants with in vitro assembly defects usually formed cytoplasmic aggregates, which were more resistant to biochemical extraction. The resistance of GFAP to solubilization was also observed in brain tissues of patients with Alexander disease, in which a significant proportion of insoluble GFAP were accumulated in Rosenthal fiber fractions. These findings provide clinically relevant evidence that link GFAP assembly defects to disease pathology at the tissue level and suggest that altered filament assembly and properties as a result of GFAP mutation are critical initiating factors for the pathogenesis of Alexander disease.
    MeSH term(s) Alexander Disease/genetics ; Alexander Disease/metabolism ; Astrocytes/metabolism ; Glial Fibrillary Acidic Protein/genetics ; Glial Fibrillary Acidic Protein/metabolism ; Humans ; Intermediate Filaments/metabolism ; Mutation/genetics
    Chemical Substances GFAP protein, human ; Glial Fibrillary Acidic Protein
    Language English
    Publishing date 2022-05-05
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1098979-1
    ISSN 1939-4586 ; 1059-1524
    ISSN (online) 1939-4586
    ISSN 1059-1524
    DOI 10.1091/mbc.E22-01-0013
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  8. Article ; Online: A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.

    Kang, You-Ri / Lee, So-Hyun / Lin, Ni-Hsuan / Lee, Seung-Jin / Yang, Ai-Wen / Chandrasekaran, Gopalakrishnan / Kang, Kyung Wook / Jin, Mi Sun / Kim, Myeong-Kyu / Perng, Ming-Der / Choi, Seok-Yong / Nam, Tai-Seung

    European journal of human genetics : EJHG

    2022  Volume 30, Issue 6, Page(s) 687–694

    Abstract: Alexander disease (AxD) is a neurodegenerative astrogliopathy caused by mutation ...

    Abstract Alexander disease (AxD) is a neurodegenerative astrogliopathy caused by mutation in the glial fibrillary acidic protein (GFAP) gene. A 42-year-old Korean man presented with temporary gait disturbance and psychiatric regression after a minor head trauma in the absence of bulbar symptoms and signs. Magnetic resonance images of the brain and spinal cord showed significant atrophy of the medulla oblongata and the entire spinal cord as well as contrast-enhanced T2 hypointensity in the basal ganglia. DNA sequencing revealed a novel 33-bp in-frame deletion mutation (p.Glu138_Leu148del) within the 1B rod domain of GFAP, which was predicted to be deleterious by PROVEAN analysis. To test whether the deletion mutant is disease-causing, we performed in vitro GFAP assembly and sedimentation assays, and GFAP aggregation assays in human adrenal carcinoma SW13 (Vim
    MeSH term(s) Alexander Disease/diagnosis ; Alexander Disease/genetics ; Alexander Disease/pathology ; Animals ; Brain/metabolism ; Glial Fibrillary Acidic Protein/genetics ; Humans ; Mutation ; Phenotype ; Rats
    Chemical Substances Glial Fibrillary Acidic Protein
    Language English
    Publishing date 2022-03-04
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-022-01073-2
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  9. Article ; Online: Four new species of Tipula (Sinotipula) Alexander (Diptera, Tipulidae) from China and a new replacement name in Tipula (Vestiplex) Bezzi, 1924

    Qi-cheng Yang / Jin-long Ren / Xiao-yan Liu / Ding Yang

    European Journal of Taxonomy, Vol 879, Iss

    2023  Volume 1

    Abstract: ... The following three species are redescribed: T. (S.) exquisita Alexander, 1935, T. (S.) hobsoni Edwards, 1928 ... presented. We also give a new replacement name for Tipula (Vestiplex) bucera Yang, Li, Pan, Liu & Yang, 2021 ...

    Abstract Fourteen species of the subgenus Sinotipula (Diptera, Tipulidae) were previously known to occur in China. Here four species are described and illustrated as new to science: Tipula (Sinotipula) drolma sp. nov., T. (S.) forcipicauda sp. nov., T. (S.) heminga sp. nov. and T. (S.) longiloba sp. nov. The following three species are redescribed: T. (S.) exquisita Alexander, 1935, T. (S.) hobsoni Edwards, 1928 and T. (S.) wardi Edwards, 1928, and a key to the species of Tipula (Sinotipula) from China is presented. We also give a new replacement name for Tipula (Vestiplex) bucera Yang, Li, Pan, Liu & Yang, 2021, i.e., T. (V.) curvicornis nom. nov.
    Keywords crane flies ; redescription ; Sichuan ; Tibet ; Tipulinae ; Zoology ; QL1-991 ; Botany ; QK1-989
    Language English
    Publishing date 2023-07-01T00:00:00Z
    Publisher Consortium of European Natural History Museums
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Descriptions of a new species of genus Angarotipula and life history of Angarotipula laetipennis (Alexander, 1935) (Diptera, Tipulidae)

    Qi-Cheng Yang / Bing Zhang / Ding Yang / Xiaoyan Liu

    Biodiversity Data Journal, Vol 10, Iss , Pp 1-

    2022  Volume 16

    Abstract: ... of Angarotipula laetipennis (Alexander, 1935) is presented and the morphologies of all stages are described. ...

    Abstract Angarotipula is a small genus of Tipulidae with only fourteen described species in the world and seven known species in China.Here, one new species is added to the fauna of Sichuan. The life history of Angarotipula laetipennis (Alexander, 1935) is presented and the morphologies of all stages are described.
    Keywords crane flies ; egg ; feeding habits ; larva ; pupa ; mor ; Biology (General) ; QH301-705.5
    Language English
    Publishing date 2022-06-01T00:00:00Z
    Publisher Pensoft Publishers
    Document type Article ; Online
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