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    PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 [ Homo sapiens (human) ]

    Gene ID: 5048, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.

    Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.
    Feng WX, Wang XF, Wu Y, Li XM, Chen SH, Wang XH, Wang ZH, Fang F, Chen CH.

    05/2/2024
    Molecular mechanism of dynein-dynactin complex assembly by LIS1.

    Molecular mechanism of dynein-dynactin complex assembly by LIS1.
    Singh K, Lau CK, Manigrasso G, Gama JB, Gassmann R, Carter AP., Free PMC Article

    04/4/2024
    Lis1-dynein drives corona compaction and limits erroneous microtubule attachment at kinetochores.

    Lis1-dynein drives corona compaction and limits erroneous microtubule attachment at kinetochores.
    Mitevska O, Lam PW, Daly L, Auckland P.

    11/19/2022
    NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways.

    NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways.
    Feng WM, Gong H, Wang YC, Wang Y, Xue T, Zhang T, Cui G., Free PMC Article

    10/1/2022
    Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.

    Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.
    Zhang YL, Jing XY, Zhen L, Pan M, Han J, Li DZ.

    06/25/2022
    Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains.

    Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains.
    Rolland M, Martin H, Bergamelli M, Sellier Y, Bessières B, Aziza J, Benchoua A, Leruez-Ville M, Gonzalez-Dunia D, Chavanas S.

    01/1/2022
    N-Acetyl-D-Glucosamine Kinase Interacts with NudC and Lis1 in Dynein Motor Complex and Promotes Cell Migration.

    N-Acetyl-D-Glucosamine Kinase Interacts with NudC and Lis1 in Dynein Motor Complex and Promotes Cell Migration.
    Islam MA, Choi HJ, Dash R, Sharif SR, Oktaviani DF, Seog DH, Moon IS., Free PMC Article

    09/18/2021
    Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray.

    Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray.
    Shi X, Huang W, Lu J, He W, Liu Q, Wu J.

    08/7/2021
    NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90.

    NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90.
    Chen W, Wang W, Sun X, Xie S, Xu X, Liu M, Yang C, Li M, Zhang W, Liu W, Wang L, Zhou T, Yang Y., Free PMC Article

    04/17/2021
    COVID-19, microthromboses, inflammation, and platelet activating factor.

    COVID-19, microthromboses, inflammation, and platelet activating factor.
    Demopoulos C, Antonopoulou S, Theoharides TC.

    01/9/2021
    LIS1 binding at these sites functions in multiple stages of assembling the motile dynein-dynactin-activating adaptor complex.

    LIS1 promotes the formation of activated cytoplasmic dynein-1 complexes.
    Htet ZM, Gillies JP, Baker RW, Leschziner AE, DeSantis ME, Reck-Peterson SL., Free PMC Article

    07/11/2020
    Study shows that modulation of matrix pore size or of lamin A expression known to modulate nuclear stiffness directly impinges on levels of MT1-MMP-mediated pericellular collagenolysis by cancer cells. This response requires an intact connection between the nucleus and the centrosome via the linker of nucleoskeleton and cytoskeleton (LINC) complex protein nesprin-2 and dynein adaptor Lis1.

    LINC complex-Lis1 interplay controls MT1-MMP matrix digest-on-demand response for confined tumor cell migration.
    Infante E, Castagnino A, Ferrari R, Monteiro P, Agüera-González S, Paul-Gilloteaux P, Domingues MJ, Maiuri P, Raab M, Shanahan CM, Baffet A, Piel M, Gomes ER, Chavrier P., Free PMC Article

    01/19/2019
    Platelet-activating factor increases reactive oxygen species-mediated microbicidal activity of human macrophages infected with Leishmania braziliensis.

    Platelet-activating factor increases reactive oxygen species-mediated microbicidal activity of human macrophages infected with Leishmania (Viannia) braziliensis.
    Borges AF, Morato CI, Gomes RS, Dorta ML, de Oliveira MAP, Ribeiro-Dias F.

    05/19/2018
    LIS1 promotes dynactin-dependent tracking of dynein on both growing and shrinking plus ends. LIS1 also increases the frequency and velocity of processive dynein movements that are activated by complex formation with dynactin and a cargo adaptor.

    Lissencephaly-1 is a context-dependent regulator of the human dynein complex.
    Baumbach J, Murthy A, McClintock MA, Dix CI, Zalyte R, Hoang HT, Bullock SL., Free PMC Article

    02/10/2018
    Microarray analysis after PAFAH1B1 knockdown and its overexpression indicated that the protein maintains Matrix Gla Protein expression

    PAFAH1B1 and the lncRNA NONHSAT073641 maintain an angiogenic phenotype in human endothelial cells.
    Josipovic I, Fork C, Preussner J, Prior KK, Iloska D, Vasconez AE, Labocha S, Angioni C, Thomas D, Ferreirós N, Looso M, Pullamsetti SS, Geisslinger G, Steinhilber D, Brandes RP, Leisegang MS.

    02/3/2018
    A novel recurrent LIS1 splice site mutation in classic lissencephaly have been found in two unrelated pediatric patients.

    A novel recurrent LIS1 splice site mutation in classic lissencephaly.
    Philbert M, Maillard C, Cavallin M, Goldenberg A, Masson C, Boddaert N, El Morjani A, Steffann J, Chelly J, Gerard X, Bahi-Buisson N.

    12/2/2017
    Lis1 has two opposing modes of regulating dynein, being capable of inducing both low and high affinity for the microtubule; study shows that these opposing modes depend on the stoichiometry of Lis1 binding to dynein and that this stoichiometry is regulated by the nucleotide state of dynein's AAA3 domain.

    Lis1 Has Two Opposing Modes of Regulating Cytoplasmic Dynein.
    DeSantis ME, Cianfrocco MA, Htet ZM, Tran PT, Reck-Peterson SL, Leschziner AE., Free PMC Article

    09/30/2017
    genetic variants in LIS1 may contribute to AML risk in Chinese population.

    The functional polymorphisms of LIS1 are associated with acute myeloid leukemia risk in a Han Chinese population.
    Cao S, Lu X, Wang L, Qian X, Jin G, Ma H.

    08/5/2017
    Val279Phe gene polymorphisms in PAF-AH are associated with PAF-AH activity and PAF and GMP-140 levels and may be a risk factor for Henoch-Schonlein purpura with gastrointestinal bleeding

    [Association between platelet-activating factor acetylhydrolase gene polymorphisms and gastrointestinal bleeding in children with Henoch-Schönlein purpura].
    Wang BX, Mei H, Peng HM, Gao Y, Ding Y., Free PMC Article

    08/5/2017
    There were no significant associations between R92H and A379V variants of PAF-AH gene and risk of polycystic ovary syndrome in Chinese women.

    Effect of the R92H and A379V genotypes of platelet-activating factor acetylhydrolase on its enzyme activity, oxidative stress and metabolic profile in Chinese women with polycystic ovary syndrome.
    Zhang R, Song Q, Liu H, Bai H, Zhang Y, Liu Q, Guan L, Fan P., Free PMC Article

    05/20/2017
    results indicate that the NAGK-dynein interaction with the involvements of Lis1 and NudE1 plays an important role in prophase nuclear envelope breakdown (NEB) and metaphase MT-KT attachment during eukaryotic cell division.

    N-Acetyl-D-Glucosamine Kinase Interacts with Dynein-Lis1-NudE1 Complex and Regulates Cell Division.
    Sharif SR, Islam A, Moon IS., Free PMC Article

    04/29/2017
    In testis: varied levels among samples of different spermatogenic abilities, protein expression restricted to spermatogonia, spermatocytes and spermatids. Also varied levels in unfertilized oocytes, zygotes, cleavage stage embryos and blastocysts.

    Role of PAFAH1B1 in human spermatogenesis, fertilization and early embryonic development.
    Yao GD, Shi SL, Song WY, Jin HX, Peng ZF, Yang HY, Wang EY, Sun YP.

    08/20/2016
    Results showed that miR-144 was reduced in cholangiocarcinoma tissues and suggested that miR-144 may be an essential suppresser of cholangiocarcinoma cell proliferation and invasion through targeting LIS1.

    MicroRNA-144 suppresses cholangiocarcinoma cell proliferation and invasion through targeting platelet activating factor acetylhydrolase isoform 1b.
    Yang R, Chen Y, Tang C, Li H, Wang B, Yan Q, Hu J, Zou S., Free PMC Article

    08/15/2015
    LIS1 and TSNAX genes are not associated with susceptibility to bipolar I disorder in Chinese Han population.

    [Association study of LIS1 and TSNAX genes with bipolar disorder in Chinese Han population].
    Li X, Guan L, Lin Y, Zhang X, Deng W, Yang Z, Ma X, Lao G, Ye B, Huang W, Jiang Z, Miao G, Xu G, Liu W, Wang Y, Li T, Cao L.

    08/9/2014
    Identify a key role for Lis1 in hematopoietic stem cells and mark its directed control of asymmetric division as a critical regulator of normal and malignant hematopoietic development

    Lis1 regulates asymmetric division in hematopoietic stem cells and in leukemia.
    Zimdahl B, Ito T, Blevins A, Bajaj J, Konuma T, Weeks J, Koechlein CS, Kwon HY, Arami O, Rizzieri D, Broome HE, Chuah C, Oehler VG, Sasik R, Hardiman G, Reya T., Free PMC Article

    04/26/2014
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