PAFAH1B1

Summary

Gene Symbol: PAFAH1B1
Description: platelet activating factor acetylhydrolase 1b regulatory subunit 1
Alias: LIS1, LIS2, MDCR, MDS, NudF, PAFAH, platelet-activating factor acetylhydrolase IB subunit alpha, lissencephaly 1 protein, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa), platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD), platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
Species: human
Products:     PAFAH1B1

Top Publications

  1. Lo Nigro C, Chong C, Smith A, Dobyns W, Carrozzo R, Ledbetter D. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 1997;6:157-64 pubmed
    ..A gene containing beta-transducin like repeats, now known as LIS1, was previously mapped to the ILS/MDS chromosome region on 17p13.3...
  2. Faulkner N, Dujardin D, Tai C, Vaughan K, O Connell C, Wang Y, et al. A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. Nat Cell Biol. 2000;2:784-91 pubmed
    Mutations in the LIS1 gene cause gross histological disorganization of the developing human brain, resulting in a brain surface that is almost smooth...
  3. Liang Y, Yu W, Li Y, Yang Z, Yan X, Huang Q, et al. Nudel functions in membrane traffic mainly through association with Lis1 and cytoplasmic dynein. J Cell Biol. 2004;164:557-66 pubmed
    Nudel and Lis1 appear to regulate cytoplasmic dynein in neuronal migration and mitosis through direct interactions. However, whether or not they regulate other functions of dynein remains elusive...
  4. Yi J, Ori McKenney K, McKenney R, Vershinin M, Gross S, Vallee R. High-resolution imaging reveals indirect coordination of opposite motors and a role for LIS1 in high-load axonal transport. J Cell Biol. 2011;195:193-201 pubmed publisher
    ..Acute LIS1 inhibition or LIS1 RNA interference had little effect on lysosomes/late endosomes but severely inhibited axonal ..
  5. Lam C, Vergnolle M, Thorpe L, Woodman P, Allan V. Functional interplay between LIS1, NDE1 and NDEL1 in dynein-dependent organelle positioning. J Cell Sci. 2010;123:202-12 pubmed publisher
    b>LIS1, NDE1 and NDEL1 modulate cytoplasmic dynein function in several cellular contexts. However, evidence that they regulate dynein-dependent organelle positioning is limited...
  6. Epie N, Ammosova T, Sapir T, Voloshin Y, Lane W, Turner W, et al. HIV-1 Tat interacts with LIS1 protein. Retrovirology. 2005;2:6 pubmed
    ..Tat-induced apoptosis of T-cells is attributed, in part, to the distortion of microtubules polymerization. LIS1 is a microtubule-associated protein that facilitates microtubule polymerization...
  7. Yamada M, Toba S, Yoshida Y, Haratani K, Mori D, Yano Y, et al. LIS1 and NDEL1 coordinate the plus-end-directed transport of cytoplasmic dynein. EMBO J. 2008;27:2471-83 pubmed publisher
    b>LIS1 was first identified as a gene mutated in human classical lissencephaly sequence. LIS1 is required for dynein activity, but the underlying mechanism is poorly understood...
  8. Tanaka T, Serneo F, Higgins C, Gambello M, Wynshaw Boris A, Gleeson J. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol. 2004;165:709-21 pubmed
    Humans with mutations in either DCX or LIS1 display nearly identical neuronal migration defects, known as lissencephaly. To define subcellular mechanisms, we have combined in vitro neuronal migration assays with retroviral transduction...
  9. Morris S, Albrecht U, Reiner O, Eichele G, Yu Lee L. The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. Curr Biol. 1998;8:603-6 pubmed
    ..Miller-Dieker syndrome (MDS) or isolated lissencephaly sequence (ILS) have a hemizygous deletion or mutation in the LIS1 gene [3,6]; both conditions are characterized by a smooth cerebral surface, a thickened cortex with four abnormal ..
  10. Coquelle F, Caspi M, Cordelières F, Dompierre J, Dujardin D, Koifman C, et al. LIS1, CLIP-170's key to the dynein/dynactin pathway. Mol Cell Biol. 2002;22:3089-102 pubmed
    ..b>LIS1, a protein implicated in brain development, acts in several processes mediated by the dynein/dynactin pathway by ..

Detail Information

Publications91

  1. Lo Nigro C, Chong C, Smith A, Dobyns W, Carrozzo R, Ledbetter D. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 1997;6:157-64 pubmed
    ..A gene containing beta-transducin like repeats, now known as LIS1, was previously mapped to the ILS/MDS chromosome region on 17p13.3...
  2. Faulkner N, Dujardin D, Tai C, Vaughan K, O Connell C, Wang Y, et al. A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. Nat Cell Biol. 2000;2:784-91 pubmed
    Mutations in the LIS1 gene cause gross histological disorganization of the developing human brain, resulting in a brain surface that is almost smooth...
  3. Liang Y, Yu W, Li Y, Yang Z, Yan X, Huang Q, et al. Nudel functions in membrane traffic mainly through association with Lis1 and cytoplasmic dynein. J Cell Biol. 2004;164:557-66 pubmed
    Nudel and Lis1 appear to regulate cytoplasmic dynein in neuronal migration and mitosis through direct interactions. However, whether or not they regulate other functions of dynein remains elusive...
  4. Yi J, Ori McKenney K, McKenney R, Vershinin M, Gross S, Vallee R. High-resolution imaging reveals indirect coordination of opposite motors and a role for LIS1 in high-load axonal transport. J Cell Biol. 2011;195:193-201 pubmed publisher
    ..Acute LIS1 inhibition or LIS1 RNA interference had little effect on lysosomes/late endosomes but severely inhibited axonal ..
  5. Lam C, Vergnolle M, Thorpe L, Woodman P, Allan V. Functional interplay between LIS1, NDE1 and NDEL1 in dynein-dependent organelle positioning. J Cell Sci. 2010;123:202-12 pubmed publisher
    b>LIS1, NDE1 and NDEL1 modulate cytoplasmic dynein function in several cellular contexts. However, evidence that they regulate dynein-dependent organelle positioning is limited...
  6. Epie N, Ammosova T, Sapir T, Voloshin Y, Lane W, Turner W, et al. HIV-1 Tat interacts with LIS1 protein. Retrovirology. 2005;2:6 pubmed
    ..Tat-induced apoptosis of T-cells is attributed, in part, to the distortion of microtubules polymerization. LIS1 is a microtubule-associated protein that facilitates microtubule polymerization...
  7. Yamada M, Toba S, Yoshida Y, Haratani K, Mori D, Yano Y, et al. LIS1 and NDEL1 coordinate the plus-end-directed transport of cytoplasmic dynein. EMBO J. 2008;27:2471-83 pubmed publisher
    b>LIS1 was first identified as a gene mutated in human classical lissencephaly sequence. LIS1 is required for dynein activity, but the underlying mechanism is poorly understood...
  8. Tanaka T, Serneo F, Higgins C, Gambello M, Wynshaw Boris A, Gleeson J. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol. 2004;165:709-21 pubmed
    Humans with mutations in either DCX or LIS1 display nearly identical neuronal migration defects, known as lissencephaly. To define subcellular mechanisms, we have combined in vitro neuronal migration assays with retroviral transduction...
  9. Morris S, Albrecht U, Reiner O, Eichele G, Yu Lee L. The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. Curr Biol. 1998;8:603-6 pubmed
    ..Miller-Dieker syndrome (MDS) or isolated lissencephaly sequence (ILS) have a hemizygous deletion or mutation in the LIS1 gene [3,6]; both conditions are characterized by a smooth cerebral surface, a thickened cortex with four abnormal ..
  10. Coquelle F, Caspi M, Cordelières F, Dompierre J, Dujardin D, Koifman C, et al. LIS1, CLIP-170's key to the dynein/dynactin pathway. Mol Cell Biol. 2002;22:3089-102 pubmed
    ..b>LIS1, a protein implicated in brain development, acts in several processes mediated by the dynein/dynactin pathway by ..
  11. Cardoso C, Leventer R, Dowling J, Ward H, Chung J, Petras K, et al. Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Hum Mutat. 2002;19:4-15 pubmed
    ..3. This gene encodes the LIS1 or PAFAH1B1 protein with a coiled-coil domain at the N-terminus and seven WD40 repeats at the C-terminus...
  12. Feng Y, Olson E, Stukenberg P, Flanagan L, Kirschner M, Walsh C. LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron. 2000;28:665-79 pubmed
    b>LIS1, a microtubule-associated protein, is required for neuronal migration, but the precise mechanism of LIS1 function is unknown...
  13. Efimov V, Morris N. The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE/RO11 protein. J Cell Biol. 2000;150:681-8 pubmed
    The nudF gene of the filamentous fungus Aspergillus nidulans acts in the cytoplasmic dynein/dynactin pathway and is required for distribution of nuclei...
  14. Caspi M, Atlas R, Kantor A, Sapir T, Reiner O. Interaction between LIS1 and doublecortin, two lissencephaly gene products. Hum Mol Genet. 2000;9:2205-13 pubmed
    Mutations in either LIS1 or DCX are the most common cause for type I lissencephaly. Here we report that LIS1 and DCX interact physically both in vitro and in vivo...
  15. Fleck M, Hirotsune S, Gambello M, Phillips Tansey E, Suares G, Mervis R, et al. Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly. J Neurosci. 2000;20:2439-50 pubmed
    ..and heterotopia throughout the granule cell and pyramidal cell layers of mice containing a heterozygous deletion of Lis1, a mouse model of human 17p13.3-linked lissencephaly...
  16. Ding C, Liang X, Ma L, Yuan X, Zhu X. Opposing effects of Ndel1 and alpha1 or alpha2 on cytoplasmic dynein through competitive binding to Lis1. J Cell Sci. 2009;122:2820-7 pubmed publisher
    b>Lis1 is an essential protein whose insufficiency causes aberrant neuronal positioning during neocortical development...
  17. Pilz D, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari C, et al. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 1999;8:1757-60 pubmed
    ..We have now identified mutations in either the DCX or LIS1 gene in three of 11 boys studied, demonstrating for the first time that mutations of either DCX or LIS1 can cause ..
  18. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns W, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 1993;364:717-21 pubmed
    ..The deduced amino-acid sequence shows significant homology to beta-subunits of heterotrimeric G proteins, suggesting that it could possibly be involved in a signal transduction pathway crucial for cerebral development. ..
  19. Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]. Nature. 1994;370:216-8 pubmed
    ..Our results raise the possibility that PAF and PAF acetylhydrolase are important in the formation of the brain cortex during differentiation and development. ..
  20. Tsai J, Chen Y, Kriegstein A, Vallee R. LIS1 RNA interference blocks neural stem cell division, morphogenesis, and motility at multiple stages. J Cell Biol. 2005;170:935-45 pubmed
    Mutations in the human LIS1 gene cause the smooth brain disease classical lissencephaly...
  21. Tai C, Dujardin D, Faulkner N, Vallee R. Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function. J Cell Biol. 2002;156:959-68 pubmed
    Mutations in the human LIS1 gene cause type I lissencephaly, a severe brain developmental disease involving gross disorganization of cortical neurons. In lower eukaryotes, LIS1 participates in cytoplasmic dynein-mediated nuclear migration...
  22. Mizuguchi M, Takashima S, Kakita A, Yamada M, Ikeda K. Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. Am J Pathol. 1995;147:1142-51 pubmed
    ..These results are consistent with the notion that a deficiency of LIS-1 protein is the direct cause of the brain malformation and that the protein plays a critical role in neuronal migration. ..
  23. Caspi M, Coquelle F, Koifman C, Levy T, Arai H, Aoki J, et al. LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties. J Biol Chem. 2003;278:38740-8 pubmed
    Mutations in one allele of the human LIS1 gene cause a severe brain malformation, lissencephaly. Although most LIS1 mutations involve deletions, several point mutations with a single amino acid alteration were described...
  24. Toyo oka K, Shionoya A, Gambello M, Cardoso C, Leventer R, Ward H, et al. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003;34:274-85 pubmed
    ..Mutations in PAFAH1B1 (the gene encoding LIS1) are responsible for ILS and contribute to MDS, but the genetic causes of the greater ..
  25. Sapir T, Cahana A, Seger R, Nekhai S, Reiner O. LIS1 is a microtubule-associated phosphoprotein. Eur J Biochem. 1999;265:181-8 pubmed
    Lissencephaly, a severe brain malformation, may be caused by mutations in the LIS1 gene. LIS1 encodes a microtubule-associated protein (MAP) that is also part of the enzyme complex, platelet-activating factor acetylhydrolase...
  26. Niethammer M, Smith D, Ayala R, Peng J, Ko J, Lee M, et al. NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein. Neuron. 2000;28:697-711 pubmed
    ..In Aspergillus nidulans, the LIS1 homolog, NUDF, and cytoplasmic dynein are genetically linked and regulate nuclear movements during hyphal growth...
  27. Xing Z, Tang X, Gao Y, Da L, Song H, Wang S, et al. The human LIS1 is downregulated in hepatocellular carcinoma and plays a tumor suppressor function. Biochem Biophys Res Commun. 2011;409:193-9 pubmed publisher
    The human lissencephaly-1 gene (LIS1) is a disease gene responsible for Miller-Dieker lissencephaly syndrome (MDL). LIS1 gene is located in the region of chromosome 17p13...
  28. Sapir T, Elbaum M, Reiner O. Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit. EMBO J. 1997;16:6977-84 pubmed
    ..Previous studies have shown that LIS1, the defective gene found in patients with lissencephaly, is a subunit of the platelet-activating factor ..
  29. Aumais J, Tunstead J, McNeil R, Schaar B, McConnell S, Lin S, et al. NudC associates with Lis1 and the dynein motor at the leading pole of neurons. J Neurosci. 2001;21:RC187 pubmed
    ..Mammalian NudC interacts with Lis1, a neuronal migration protein important during neocorticogenesis, suggesting a conserved mechanism of nuclear ..
  30. McKenney R, Weil S, Scherer J, Vallee R. Mutually exclusive cytoplasmic dynein regulation by NudE-Lis1 and dynactin. J Biol Chem. 2011;286:39615-22 pubmed publisher
    ..Together these results reveal an unanticipated mechanism for preventing dual regulation of individual dynein molecules, and identify the IC as a nexus for regulatory interactions within the dynein complex. ..
  31. Sweeney K, Clark G, Prokscha A, Dobyns W, Eichele G. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mech Dev. 2000;92:263-71 pubmed
    ..MDS and ILS patients have a hemizygous deletion or mutation in the LIS1 gene (PAFAH1B1), therefore, the LIS1 encoded protein (Lis1) may play a role in neuronal migration...
  32. Yan X, Li F, Liang Y, Shen Y, Zhao X, Huang Q, et al. Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle. Mol Cell Biol. 2003;23:1239-50 pubmed
    ..evidence supports the idea that a signaling pathway containing orthologs of at least mammalian NudE and Nudel, Lis1, and cytoplasmic dynein is conserved for eukaryotic nuclear migration...
  33. Nacher J, Akutsu T. Minimum dominating set-based methods for analyzing biological networks. Methods. 2016;102:57-63 pubmed publisher
    ..The minimum dominating set (MDS) approach has rapidly emerged as a promising algorithmic method to analyze complex biological networks integrated ..
  34. Zhuo Z, Yu H, Jiang X. A systematic review and meta-analysis of randomized controlled trials on the effectiveness of cervical ripening with misoprostol administration before hysteroscopy. Int J Gynaecol Obstet. 2016;132:272-7 pubmed publisher
    ..Random-effects models were used to calculate odds ratios or mean differences (MDs) with 95% confidence intervals (CIs). The analysis included 32 trials...
  35. Joshi D, Korgaonkar S, Shanmukhaiah C, Vundinti B. Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. Ann Hematol. 2016;95:79-85 pubmed
    ..Alterations in many individual biologic pathways have been reported in MDS pathophysiology...
  36. Gueron Sela N, Propper C, Wagner N, Camerota M, Tully K, Moore G. Infant respiratory sinus arrhythmia and maternal depressive symptoms predict toddler sleep problems. Dev Psychobiol. 2017;59:261-267 pubmed publisher
    ..the direct and interactive effects of infants' respiratory sinus arrhythmia (RSA) and maternal depressive symptoms (MDS) during the first 6 months of life in the prediction of children's sleep problems at age 18 months...
  37. He G, Li Y, Zou X, Zhang Y, Li H, Wang M, et al. X-chromosomal STR-based genetic structure of Sichuan Tibetan minority ethnicity group and its relationships to various groups. Int J Legal Med. 2018;132:409-413 pubmed publisher
    ..population genetic structure investigation between Sichuan Tibetan population and other 19 populations using PCA, MDS, and phylogenetic tree illustrated that significant genetic difference was observed between the Sichuan Tibetan and ..
  38. Babushok D, Duke J, Xie H, Stanley N, Atienza J, Perdigones N, et al. Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications. Blood Adv. 2017;1:1900-1910 pubmed
    ..cells, characterized by inadequate blood production, and a predisposition to myelodysplastic syndrome (MDS) and leukemia...
  39. Oliva E, Alati C, Santini V, Poloni A, Molteni A, Niscola P, et al. Eltrombopag versus placebo for low-risk myelodysplastic syndromes with thrombocytopenia (EQoL-MDS): phase 1 results of a single-blind, randomised, controlled, phase 2 superiority trial. Lancet Haematol. 2017;4:e127-e136 pubmed publisher
    ..EQoL-MDS was a single-blind, randomised, controlled, phase 2 superiority trial of adult patients with low-risk or ..
  40. Yamamoto M, Tanaka H, Toki Y, Hatayama M, Ito S, Addo L, et al. Iron-induced epigenetic abnormalities of mouse bone marrow through aberrant activation of aconitase and isocitrate dehydrogenase. Int J Hematol. 2016;104:491-501 pubmed publisher
    Iron overload remains a concern in myelodysplastic syndrome (MDS) patients. Iron chelation therapy (ICT) thus plays an integral role in the management of these patients...
  41. T P, Mondal M, Ramadas K, Natarajan S. Molecular interaction of 2,4-diacetylphloroglucinol (DAPG) with human serum albumin (HSA): The spectroscopic, calorimetric and computational investigation. Spectrochim Acta A Mol Biomol Spectrosc. 2017;183:90-102 pubmed publisher
    ..FT-IR) spectroscopy, isothermal titration calorimetry (ITC), molecular docking and molecular dynamics simulation (MDS)...
  42. Gill H, Leung A, Kwong Y. Molecular and Cellular Mechanisms of Myelodysplastic Syndrome: Implications on Targeted Therapy. Int J Mol Sci. 2016;17:440 pubmed publisher
    Myelodysplastic syndrome (MDS) is a group of heterogeneous clonal hematopoietic stem cell disorders characterized by cytopenia, ineffective hematopoiesis, and progression to secondary acute myeloid leukemia in high-risk cases...
  43. Benetatos L, Vartholomatos G. Enhancer DNA methylation in acute myeloid leukemia and myelodysplastic syndromes. Cell Mol Life Sci. 2018;: pubmed publisher
    ..are observed in hematological malignancies including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) resulting in hyper- or hypo-methylation affecting several different pathways...
  44. Sinha S, Chatterjee S, Biswas M, Nag A, Banerjee D, De R, et al. SWI/SNF subunit expression heterogeneity in human aplastic anemia stem/progenitors. Exp Hematol. 2018;: pubmed publisher
    ..hematopoiesis in AA is associated with evolution to late clonal disorders, including myelodysplastic syndromes (MDS)...
  45. Chou K, Kotagal V, Bohnen N. Neuroimaging and clinical predictors of fatigue in Parkinson disease. Parkinsonism Relat Disord. 2016;23:45-9 pubmed publisher
    ..completed the Fatigue Severity Scale, Movement Disorders Society-Sponsored Revision of the Unified PD Rating Scale (MDS-UPDRS), Hoehn-Yahr staging, validated scales for depression, anxiety, apathy, sleep, and cognition, and underwent [(..
  46. Quattrocelli M, Swinnen M, Giacomazzi G, Camps J, Barthélemy I, Ceccarelli G, et al. Mesodermal iPSC-derived progenitor cells functionally regenerate cardiac and skeletal muscle. J Clin Invest. 2015;125:4463-82 pubmed publisher
    Conditions such as muscular dystrophies (MDs) that affect both cardiac and skeletal muscles would benefit from therapeutic strategies that enable regeneration of both of these striated muscle types...
  47. Talati C, Griffiths E, Wetzler M, Wang E. Polo-like kinase inhibitors in hematologic malignancies. Crit Rev Oncol Hematol. 2016;98:200-10 pubmed publisher
    ..Plk and phosphatidylinositol 3-kinase pathways, is under investigation in patients with myelodysplastic syndrome (MDS) who have failed azacitidine or decitabine treatment...
  48. Hu K, Sun Q, Guo M, Qiao J, Yu C, Qiao J, et al. A Study of Human Leukocyte Antigen Mismatched Cellular Therapy (Stem Cell Microtransplantation) in High-Risk Myelodysplastic Syndrome or Transformed Acute Myelogenous Leukemia. Stem Cells Transl Med. 2016;5:524-9 pubmed publisher
    The treatment outcomes of myelodysplastic syndrome (MDS) and transformed acute myelogenous leukemia (tAML) remain very unsatisfactory...
  49. Patnaik M, Tefferi A. Chronic Myelomonocytic Leukemia: Focus on Clinical Practice. Mayo Clin Proc. 2016;91:259-72 pubmed publisher
    ..Given the lack of formal treatment and response criteria, management of CMML is often extrapolated from MDS and MPN, with allogeneic stem cell transplant being the only curative option...
  50. Zhang G, Wang H, Shao Z. [Bone Marrow Microenvironment and Myelodysplastic Syndromes--Review]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2016;24:290-4 pubmed publisher
    Myelodysplastic syndromes (MDS) are a group of bone marrow failure diseases. The bone marrow microenvironment consists of bone marrow stromal cells (BMSC), growth factors and cytokines...
  51. Li Harms X, Milasta S, Lynch J, Wright C, Joshi A, Iyengar R, et al. Mito-protective autophagy is impaired in erythroid cells of aged mtDNA-mutator mice. Blood. 2015;125:162-74 pubmed publisher
    ..DNA (mtDNA) mutations contribute to the pathogenesis of age-related disorders, including myelodysplastic syndromes (MDS)...
  52. Kim S, Kim K, Hwang B, Im K, Park S, Kim J, et al. The high frequency of the U2AF1 S34Y mutation and its association with isolated trisomy 8 in myelodysplastic syndrome in Asians, but not in Caucasians. Leuk Res. 2017;61:96-103 pubmed publisher
    Mutational profiles of 153 Korean myelodysplastic syndrome (MDS) patients were investigated. Sequencing of 87 genes presented similar mutational profiles in Korean MDS patients compared with previous reports...
  53. Schroeder T, Rautenberg C, Haas R, Germing U, Kobbe G. Hypomethylating agents for treatment and prevention of relapse after allogeneic blood stem cell transplantation. Int J Hematol. 2018;107:138-150 pubmed publisher
    ..stem cell transplantation (allo-SCT) in patients with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), many patients will relapse...
  54. Deshet Unger N, Oster H, Prutchi Sagiv S, Maaravi N, Golishevski N, Neumann D, et al. Erythropoietin administration is associated with improved T-cell properties in patients with myelodysplastic syndromes. Leuk Res. 2017;52:20-27 pubmed publisher
    The immune system is impaired in myelodysplastic syndromes (MDS) and plays a role in the pathogenesis of the disease...
  55. Gueron Sela N, Camerota M, Willoughby M, Vernon Feagans L, Cox M. Maternal Depressive Symptoms, Mother-Child Interactions, and Children's Executive Function. Dev Psychol. 2017;: pubmed publisher
    This study examined the independent and mediated associations between maternal depression symptoms (MDS), mother-child interaction, and child executive function (EF) in a prospective longitudinal sample of 1,037 children (50% boys) from ..
  56. Bhagat T, Chen S, Bartenstein M, Barlowe A, Von Ahrens D, Choudhary G, et al. Epigenetically Aberrant Stroma in MDS Propagates Disease via Wnt/β-Catenin Activation. Cancer Res. 2017;77:4846-4857 pubmed publisher
    ..study, we conducted a DNA methylome analysis of bone marrow-derived stromal cells from myelodysplastic syndrome (MDS) patients and observed widespread aberrant cytosine hypermethylation occurring preferentially outside CpG islands...
  57. Franceschi A, Rosenkrantz A. Patterns of Recent National Institutes of Health (NIH) Funding to Diagnostic Radiology Departments: Analysis Using the NIH RePORTER System. Acad Radiol. 2017;24:1162-1168 pubmed publisher
    ..PhDs received 77.7% of all awards, with average funding per award of $457,413 compared to $505,516 for MDs. Full professors received 51...
  58. Tarrant R, Queally J, Moore D, Kiely P. Prevalence and impact of low body mass index on outcomes in patients with adolescent idiopathic scoliosis: a systematic review. Eur J Clin Nutr. 2018;: pubmed publisher
    ..Forty-five eligible studies were identified from the search strategy. Mean differences (MDs) were used with 95% confidence intervals (CI) in a random effects model to compare BMI in patients with AIS and ..
  59. Grabska J, Shah B, Reed D, Al Ali N, Padron E, Ramadan H, et al. Myelodysplastic Syndromes in Adolescent Young Adults: One Institution's Experience. Clin Lymphoma Myeloma Leuk. 2016;16 Suppl:S53-6 pubmed publisher
    ..Myelodysplastic syndrome (MDS) is mainly a disease of the elderly...
  60. Su M, Lopez J, Crossa A, Hoffman R. Low dose intramuscular methadone for acute mild to moderate opioid withdrawal syndrome. Am J Emerg Med. 2018;: pubmed publisher
    ..1 vs. -5.5, P<0.001). Patients were more likely to self-score themselves as having withdrawal compared to MDs (93.6% vs. 76.6% respectively, P=0.027)...
  61. Shaffer B, Le Luduec J, Forlenza C, Jakubowski A, Perales M, Young J, et al. Phase II Study of Haploidentical Natural Killer Cell Infusion for Treatment of Relapsed or Persistent Myeloid Malignancies Following Allogeneic Hematopoietic Cell Transplantation. Biol Blood Marrow Transplant. 2016;22:705-709 pubmed publisher
    ..in patients with relapsed or progressive acute myelogenous leukemia (AML) or myelodysplastic syndrome (MDS) following allogeneic hematopoietic cell transplantation (HCT)...
  62. Slade M, DiPersio J, Westervelt P, Vij R, Schroeder M, Romee R. Haploidentical Hematopoietic Cell Transplant with Post-Transplant Cyclophosphamide and Peripheral Blood Stem Cell Grafts in Older Adults with Acute Myeloid Leukemia or Myelodysplastic Syndrome. Biol Blood Marrow Transplant. 2017;23:1736-1743 pubmed publisher
    ..all adult patients undergoing haplo-HCT with PTCy for acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) at our institution from January 2009 to June 2016...
  63. De La Garza A, Cameron R, Nik S, Payne S, Bowman T. Spliceosomal component Sf3b1 is essential for hematopoietic differentiation in zebrafish. Exp Hematol. 2016;44:826-837.e4 pubmed publisher
    SF3B1 (Splicing factor 3b, subunit 1) is one of the most commonly mutated factors in myelodysplastic syndrome (MDS)...
  64. Lamprianidou E, Kordella C, Papoutselis M, Bezyrgiannidou Z, Nakou E, Papamichos S, et al. Myeloid Neoplasms with Isolated Isochromosome 17q: a yet to be Defined Entity. Mediterr J Hematol Infect Dis. 2017;9:e2017066 pubmed publisher
    ..Though he initially responded well to erythropoietin, he gradually progressed to an aggressive form of MDS/MPN refractory to azacytidine and died 29 months after the first diagnosis...
  65. Stauder R, Valent P, Theurl I. Anemia at older age: etiologies, clinical implications and management. Blood. 2017;: pubmed publisher
    ..Many underlying diseases, like the myelodysplastic syndromes (MDS), develop preferentially in elderly individuals...
  66. Giacomazzi G, Holvoet B, Trenson S, Caluwé E, Kravic B, Grosemans H, et al. MicroRNAs promote skeletal muscle differentiation of mesodermal iPSC-derived progenitors. Nat Commun. 2017;8:1249 pubmed publisher
    Muscular dystrophies (MDs) are often characterized by impairment of both skeletal and cardiac muscle. Regenerative strategies for both compartments therefore constitute a therapeutic avenue...
  67. DesRoches C, Clarke S, Perloff J, O Reilly Jacob M, Buerhaus P. The quality of primary care provided by nurse practitioners to vulnerable Medicare beneficiaries. Nurs Outlook. 2017;65:679-688 pubmed publisher
    ..purpose of this study was to compare quality indicators among three groups of vulnerable beneficiaries managed by MDs and nurse practitioners (NPs)...
  68. Shah K, Curtin B, Chu C, Hwang D, Flasar M, von Rosenvinge E. Characteristics of Clostridium difficile infection in patients hospitalized with myelodysplastic syndrome or acute myelogenous leukemia. World J Clin Oncol. 2017;8:398-404 pubmed publisher
    To evaluate factors associated with Clostridium difficile infection (CDI) and outcomes of CDI in the myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) population.
  69. Zini G. Diagnostics and Prognostication of Myelodysplastic Syndromes. Ann Lab Med. 2017;37:465-474 pubmed publisher
    b>MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral ..
  70. Ornelas Vences C, Sánchez Fernández L, Sánchez Pérez L, Garza Rodríguez A, Villegas Bastida A. Fuzzy inference model evaluating turn for Parkinson's disease patients. Comput Biol Med. 2017;89:379-388 pubmed publisher
    ..The Unified Parkinson's Disease Rating Scale sponsored by the Movement Disorder Society (MDS-UPDRS) quantifies the current state of the disease based on clinician's observations...
  71. Tabares Seisdedos R, Escamez T, Martínez Giménez J, Balanza V, Salazar J, Selva G, et al. Variations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar subjects from mediterranean Spain: a preliminary study. Neuroscience. 2006;139:1289-300 pubmed
    ..migration, we analyzed two genomic regions: the lissencephaly critical region (chromosome 17p) encompassing the LIS1 gene and which is involved in human lissencephaly; and the genes related to the platelet-activating-factor, ..
  72. Sashida G. Epigenetic dysregulation in myelodysplastic syndromes. Rinsho Ketsueki. 2017;58:1809-1817 pubmed publisher
    Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disease characterized by impaired hematopoiesis and an increased risk of transformation to acute myeloid leukemia (AML)...
  73. Zhou T, Zimmerman W, Liu X, Erikson R. A mammalian NudC-like protein essential for dynein stability and cell viability. Proc Natl Acad Sci U S A. 2006;103:9039-44 pubmed
    ..Taken together, these data suggest a previously undescribed mechanism whereby NudCL appears to influence the stabilization of dynein intermediate chain. ..
  74. Cogle C, Reddy S, Chang E, Papoyan E, Broder M, McGuire M, et al. Early treatment initiation in lower-risk myelodysplastic syndromes produces an earlier and higher rate of transfusion independence. Leuk Res. 2017;60:123-128 pubmed publisher
    Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis resulting in refractory cytopenias...
  75. Linder K, Iragavarapu C, Liu D. SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome. Biomark Res. 2017;5:33 pubmed publisher
    Myelodysplasia (MDS) /myeloproliferative neoplasm (MPN) overlap syndrome has been described since the 2001 WHO classification as disorders that have both proliferative and dysplastic changes simultaneously...
  76. Simões P, Celestino R, Carvalho A, Gassmann R. NudE regulates dynein at kinetochores but is dispensable for other dynein functions in the C. elegans early embryo. J Cell Sci. 2018;131: pubmed publisher
    ..How the ubiquitous dynein co-factors Lis1 and NudE contribute to these functions remains poorly understood. Here, we show that the C...
  77. de Moura L, dos Santos W, Castro S, Ito E, da Luz E Silva D, Yokota R, et al. Applying the ICF linking rules to compare population-based data from different sources: an exemplary analysis of tools used to collect information on disability. Disabil Rehabil. 2017;:1-12 pubmed publisher
    ..the Brazilian Functioning Index to the World Health Organization (WHO) and the World Bank Model Disability Survey (MDS), currently recommended as a standard tool for disability measurement...
  78. Horvath A, Łukasik J, Szajewska H. ?-3 Fatty Acid Supplementation Does Not Affect Autism Spectrum Disorder in Children: A Systematic Review and Meta-Analysis. J Nutr. 2017;147:367-376 pubmed publisher
    ..Mean differences (MDs) were calculated for continuous outcomes.Results: Five RCTs (183 participants) were included...
  79. Kim D, Lee H, Moon J, Sohn S, Kim H, Cheong J, et al. Can we consider discontinuation of hypomethylating agents in patients with myelodysplastic syndrome : a retrospective study from The Korean Society of Hematology AML/MDS Working Party. Oncotarget. 2017;8:79414-79424 pubmed publisher
    ..Especially, a lower risk by WPSS and longer duration of HMA treatment may be predictive factors for a longer PFS and OS in patients who discontinued HMA...
  80. Yamada Y, Yokota M. Roles of plasma platelet-activating factor acetylhydrolase in allergic, inflammatory, and atherosclerotic diseases. Jpn Circ J. 1998;62:328-35 pubmed
    ..Such studies have provided insight into the functions of PAF and oxidized phospholipids as well as into the etiology of allergic, inflammatory, and atherosclerotic diseases. ..
  81. Boultwood J, Pellagatti A, Nikpour M, Pushkaran B, Fidler C, Cattan H, et al. The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts. PLoS ONE. 2008;3:e1970 pubmed publisher
    Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome (MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts...
  82. Dinday M, Girskis K, Lee S, Baraban S, Hunt R. PAFAH1B1 haploinsufficiency disrupts GABA neurons and synaptic E/I balance in the dentate gyrus. Sci Rep. 2017;7:8269 pubmed publisher
    Hemizygous mutations in the human gene encoding platelet-activating factor acetylhydrolase IB subunit alpha (Pafah1b1), also called Lissencephaly-1, can cause classical lissencephaly, a severe malformation of cortical development...
  83. Ahun M, Geoffroy M, Herba C, Brendgen M, Séguin J, Sutter Dallay A, et al. Timing and Chronicity of Maternal Depression Symptoms and Children's Verbal Abilities. J Pediatr. 2017;190:251-257 pubmed publisher
    To test the associations between the timing and chronicity of maternal depression symptoms (MDS) and children's long-term verbal abilities. Participants were 1073 mother-child pairs from a population-based birth cohort in Canada...
  84. Fang W, Song P, Xie X, Wang J, Lu Y, Li G, et al. A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene. Oncotarget. 2017;8:84309-84319 pubmed publisher
    ..There are as many as 112 infantile mtDNA depletion syndrome (MDS) cases in the literature related to DGUOK gene variants...
  85. Palomo L, Fuster Tormo F, Alvira D, Ademà V, Armengol M, Gómez Marzo P, et al. Inspecting Targeted Deep Sequencing of Whole Genome Amplified DNA Versus Fresh DNA for Somatic Mutation Detection: A Genetic Study in Myelodysplastic Syndrome Patients. Biopreserv Biobank. 2017;15:360-365 pubmed publisher
    ..Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell disorders characterized by presenting somatic mutations in several ..
  86. Chi Z, Zhu P. [Gene Mutation and Acute Leukemia Transformation of Severe Congenital Neutropenia- Review]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2017;25:1580-1584 pubmed publisher
    ..SCN has a high risk of transformation to myelodysplastic syndromes (MDS) / acute myeloid leukemia (AML)...
  87. Coleman S, Nelson E, Vowden P, Vowden K, Adderley U, Sunderland L, et al. Development of a generic wound care assessment minimum data set. J Tissue Viability. 2017;26:226-240 pubmed publisher
    At present there is no established national minimum data set (MDS) for generic wound assessment in England, which has led to a lack of standardisation and variable assessment criteria being used across the country...
  88. Ross D. Modulation of drug resistance transporters as a strategy for treating myelodysplastic syndrome. Best Pract Res Clin Haematol. 2004;17:641-51 pubmed
    ..is an obstacle to the successful treatment of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS)...
  89. Nicodemus K, Callicott J, Higier R, Luna A, Nixon D, Lipska B, et al. Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging. Hum Genet. 2010;127:441-52 pubmed publisher
    ..gene, encodes a protein which interacts with many other proteins, including CIT, NDEL1, NDE1, FEZ1 and PAFAH1B1, some of which also have been associated with psychosis...
  90. Wayne A, Barrett A. Allogeneic hematopoietic stem cell transplantation for myeloproliferative disorders and myelodysplastic syndromes. Hematol Oncol Clin North Am. 2003;17:1243-60 pubmed
    Allogeneic SCT is the most effective method to achieve cure in patients with MPD and MDS. This approach is associated with significant risk of morbidity (eg, GVHD) and TRM, although the incidence and severity vary based on donor and ..
  91. Murdoch H, Vadrevu S, Prinz A, Dunlop A, Klussmann E, Bolger G, et al. Interaction between LIS1 and PDE4, and its role in cytoplasmic dynein function. J Cell Sci. 2011;124:2253-66 pubmed publisher
    ..Here, we reveal that cAMP-specific phosphodiesterases (PDE4s) directly bind PAFAH1B1 (also known as LIS1)...