SIDS susceptibility pathways (WP3130)

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References

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23. The correlation between microtubule-associated protein 2 in the brainstem of SIDS victims and physiological data on sleep apnea. Sawaguchi T, Patricia F, Kadhim H, Groswasser J, Sottiaux M, Nishida H, et al. Early Hum Dev. 2003 Dec;75 Suppl:S87-97. PubMed Europe PMC Scholia
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29. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, et al. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689–94. PubMed Europe PMC Scholia
30. Role of somatostatin and apoptosis in breathing control in sudden perinatal and infant unexplained death. Lavezzi AM, Ottaviani G, Matturri L. Clin Neuropathol. 2004;23(6):304–10. PubMed Europe PMC Scholia
31. A differentially autoregulated Pet-1 enhancer region is a critical target of the transcriptional cascade that governs serotonin neuron development. Scott MM, Krueger KC, Deneris ES. J Neurosci. 2005 Mar 9;25(10):2628–36. PubMed Europe PMC Scholia
32. Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly. Forsyth L, Hume R, Howatson A, Busuttil A, Burchell A. J Mol Med (Berl). 2005 Aug;83(8):610–8. PubMed Europe PMC Scholia
33. Transcriptional regulation of neuronal genes and its effect on neural functions: cumulative mRNA expression of PACAP and BDNF genes controlled by calcium and cAMP signals in neurons. Fukuchi M, Tabuchi A, Tsuda M. J Pharmacol Sci. 2005 Jul;98(3):212–8. PubMed Europe PMC Scholia
34. Increased serotonin receptor availability in human sleep: evidence from an [18F]MPPF PET study in narcolepsy. Derry C, Benjamin C, Bladin P, le Bars D, Tochon-Danguy H, Berkovic SF, et al. Neuroimage. 2006 Apr 1;30(2):341–8. PubMed Europe PMC Scholia
35. Cell-specific repressor or enhancer activities of Deaf-1 at a serotonin 1A receptor gene polymorphism. Czesak M, Lemonde S, Peterson EA, Rogaeva A, Albert PR. J Neurosci. 2006 Feb 8;26(6):1864–71. PubMed Europe PMC Scholia
36. Glucocorticoid and androgen activation of monoamine oxidase A is regulated differently by R1 and Sp1. Ou XM, Chen K, Shih JC. J Biol Chem. 2006 Jul 28;281(30):21512–25. PubMed Europe PMC Scholia
37. Regulation of human tyrosine hydroxylase gene by neuron-restrictive silencer factor. Kim SM, Yang JW, Park MJ, Lee JK, Kim SU, Lee YS, et al. Biochem Biophys Res Commun. 2006 Jul 28;346(2):426–35. PubMed Europe PMC Scholia
38. Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene. Rand CM, Weese-Mayer DE, Zhou L, Maher BS, Cooper ME, Marazita ML, et al. Am J Med Genet A. 2006 Aug 1;140(15):1687–91. PubMed Europe PMC Scholia
39. Comparisons between transcriptional regulation and RNA expression in human embryonic stem cell lines. Player A, Wang Y, Bhattacharya B, Rao M, Puri RK, Kawasaki ES. Stem Cells Dev. 2006 Jun;15(3):315–23. PubMed Europe PMC Scholia
40. Association of sudden infant death syndrome with VEGF and IL-6 gene polymorphisms. Dashash M, Pravica V, Hutchinson IV, Barson AJ, Drucker DB. Hum Immunol. 2006 Aug;67(8):627–33. PubMed Europe PMC Scholia
41. Transcriptional regulation of human MAP2 gene in melanoma: role of neuronal bHLH factors and Notch1 signaling. Bhat KMR, Maddodi N, Shashikant C, Setaluri V. Nucleic Acids Res. 2006 Aug 11;34(13):3819–32. PubMed Europe PMC Scholia
42. The G protein beta3 subunit 825C allele is associated with sudden infant death due to infection. Hauge Opdal S, Melien Ø, Rootwelt H, Vege A, Arnestad M, Ole Rognum T. Acta Paediatr. 2006 Sep;95(9):1129–32. PubMed Europe PMC Scholia
43. Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. Paterson DS, Trachtenberg FL, Thompson EG, Belliveau RA, Beggs AH, Darnall R, et al. JAMA. 2006 Nov 1;296(17):2124–32. PubMed Europe PMC Scholia
44. Evidence of HIF-1 functional binding activity to caspase-3 promoter after photothrombotic cerebral ischemia. Van Hoecke M, Prigent-Tessier AS, Garnier PE, Bertrand NM, Filomenko R, Bettaieb A, et al. Mol Cell Neurosci. 2007 Jan;34(1):40–7. PubMed Europe PMC Scholia
45. Overexpression HERG K(+) channel gene mediates cell-growth signals on activation of oncoproteins SP1 and NF-kappaB and inactivation of tumor suppressor Nkx3.1. Lin H, Xiao J, Luo X, Wang H, Gao H, Yang B, et al. J Cell Physiol. 2007 Jul;212(1):137–47. PubMed Europe PMC Scholia
46. Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome. Forsyth L, Scott HM, Howatson A, Busuttil A, Hume R, Burchell A. J Pathol. 2007 May;212(1):112–20. PubMed Europe PMC Scholia
47. Differential regulation of the serotonin transporter gene by lithium is mediated by transcription factors, CCCTC binding protein and Y-box binding protein 1, through the polymorphic intron 2 variable number tandem repeat. Roberts J, Scott AC, Howard MR, Breen G, Bubb VJ, Klenova E, et al. J Neurosci. 2007 Mar 14;27(11):2793–801. PubMed Europe PMC Scholia
48. Hypoxia-inducible factor-1 (HIF-1) is a transcriptional activator of the TrkB neurotrophin receptor gene. Martens LK, Kirschner KM, Warnecke C, Scholz H. J Biol Chem. 2007 May 11;282(19):14379–88. PubMed Europe PMC Scholia
49. Ca2+, CREB and krüppel: a novel KLF7-binding element conserved in mouse and human TRKB promoters is required for CREB-dependent transcription. Kingsbury TJ, Krueger BK. Mol Cell Neurosci. 2007 Jul;35(3):447–55. PubMed Europe PMC Scholia
50. A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Tester DJ, Dura M, Carturan E, Reiken S, Wronska A, Marks AR, et al. Heart Rhythm. 2007 Jun;4(6):733–9. PubMed Europe PMC Scholia
51. Characterization of a functional promoter polymorphism of the human tryptophan hydroxylase 2 gene in serotonergic raphe neurons. Scheuch K, Lautenschlager M, Grohmann M, Stahlberg S, Kirchheiner J, Zill P, et al. Biol Psychiatry. 2007 Dec 1;62(11):1288–94. PubMed Europe PMC Scholia
52. The transcription factor Runx3 represses the neurotrophin receptor TrkB during lineage commitment of dorsal root ganglion neurons. Inoue K ichi, Ito K, Osato M, Lee B, Bae SC, Ito Y. J Biol Chem. 2007 Aug 17;282(33):24175–84. PubMed Europe PMC Scholia
53. Sudden infant death syndrome: rare mutation in the serotonin system FEV gene. Rand CM, Berry-Kravis EM, Zhou L, Fan W, Weese-Mayer DE. Pediatr Res. 2007 Aug;62(2):180–2. PubMed Europe PMC Scholia
54. Regulation of tryptophan hydroxylase-2 gene expression by a bipartite RE-1 silencer of transcription/neuron restrictive silencing factor (REST/NRSF) binding motif. Patel PD, Bochar DA, Turner DL, Meng F, Mueller HM, Pontrello CG. J Biol Chem. 2007 Sep 14;282(37):26717–24. PubMed Europe PMC Scholia
55. Synergy between the RE-1 silencer of transcription and NFkappaB in the repression of the neurotransmitter gene TAC1 in human mesenchymal stem cells. Greco SJ, Smirnov SV, Murthy RG, Rameshwar P. J Biol Chem. 2007 Oct 12;282(41):30039–50. PubMed Europe PMC Scholia
56. 5-HT(2) receptor subtypes mediate different long-term changes in GABAergic activity to parasympathetic cardiac vagal neurons in the nucleus ambiguus. Dergacheva O, Griffioen KJS, Wang X, Kamendi H, Gorini C, Mendelowitz D. Neuroscience. 2007 Nov 9;149(3):696–705. PubMed Europe PMC Scholia
57. Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding. Winge I, McKinney JA, Ying M, D’Santos CS, Kleppe R, Knappskog PM, et al. Biochem J. 2008 Feb 15;410(1):195–204. PubMed Europe PMC Scholia
58. NF-kappaB-dependent transcriptional regulation of the cardiac scn5a sodium channel by angiotensin II. Shang LL, Sanyal S, Pfahnl AE, Jiao Z, Allen J, Liu H, et al. Am J Physiol Cell Physiol. 2008 Jan;294(1):C372-9. PubMed Europe PMC Scholia
59. Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death. Yang Z, Lantz PE, Ibdah JA. Pediatr Int. 2007 Dec;49(6):883–7. PubMed Europe PMC Scholia
60. Neuronal cell death in the Sudden Infant Death Syndrome brainstem and associations with risk factors. Machaalani R, Waters KA. Brain. 2008 Jan;131(Pt 1):218–28. PubMed Europe PMC Scholia
61. NHE3 in the human brainstem: implication for the pathogenesis of the sudden infant death syndrome (SIDS)? Wiemann M, Frede S, Tschentscher F, Kiwull-Schöne H, Kiwull P, Bingmann D, et al. Adv Exp Med Biol. 2008;605:508–13. PubMed Europe PMC Scholia
62. Activation of 5-HT1A receptors in medullary raphé disrupts sleep and decreases shivering during cooling in the conscious piglet. Brown JW, Sirlin EA, Benoit AM, Hoffman JM, Darnall RA. Am J Physiol Regul Integr Comp Physiol. 2008 Mar;294(3):R884-94. PubMed Europe PMC Scholia
63. Surface expression of GABAA receptors is transcriptionally controlled by the interplay of cAMP-response element-binding protein and its binding partner inducible cAMP early repressor. Hu Y, Lund IV, Gravielle MC, Farb DH, Brooks-Kayal AR, Russek SJ. J Biol Chem. 2008 Apr 4;283(14):9328–40. PubMed Europe PMC Scholia
64. Genomic structure, transcriptional control, and tissue distribution of HERG1 and KCNQ1 genes. Luo X, Xiao J, Lin H, Lu Y, Yang B, Wang Z. Am J Physiol Heart Circ Physiol. 2008 Mar;294(3):H1371-80. PubMed Europe PMC Scholia
65. BHLHB2 controls Bdnf promoter 4 activity and neuronal excitability. Jiang X, Tian F, Du Y, Copeland NG, Jenkins NA, Tessarollo L, et al. J Neurosci. 2008 Jan 30;28(5):1118–30. PubMed Europe PMC Scholia
66. Sp1-like sequences mediate human caspase-3 promoter activation by p73 and cisplatin. Sudhakar C, Jain N, Swarup G. FEBS J. 2008 May;275(9):2200–13. PubMed Europe PMC Scholia
67. A functional polymorphism in the tyrosine hydroxylase gene indicates a role of noradrenalinergic signaling in sudden infant death syndrome. Klintschar M, Reichenpfader B, Saternus KS. J Pediatr. 2008 Aug;153(2):190–3. PubMed Europe PMC Scholia
68. TNF-alpha promoter polymorphisms in sudden infant death. Ferrante L, Opdal SH, Vege A, Rognum TO. Hum Immunol. 2008 Jun;69(6):368–73. PubMed Europe PMC Scholia
69. Sporadic autonomic dysregulation and death associated with excessive serotonin autoinhibition. Audero E, Coppi E, Mlinar B, Rossetti T, Caprioli A, Banchaabouchi MA, et al. Science. 2008 Jul 4;321(5885):130–3. PubMed Europe PMC Scholia
70. TNF-alpha and IL-10 gene polymorphisms versus cardioimmunological responses in sudden infant death. Perskvist N, Skoglund K, Edston E, Bäckström G, Lodestad I, Palm U. Fetal Pediatr Pathol. 2008;27(3):149–65. PubMed Europe PMC Scholia
71. Transcriptional regulation at a HTR1A polymorphism associated with mental illness. Le François B, Czesak M, Steubl D, Albert PR. Neuropharmacology. 2008 Nov;55(6):977–85. PubMed Europe PMC Scholia
72. PHOX2B mutations and ventilatory control. Gallego J, Dauger S. Respir Physiol Neurobiol. 2008 Dec 10;164(1–2):49–54. PubMed Europe PMC Scholia
73. Chronic effect of nicotine on serotonin transporter mRNA in the raphe nucleus of rats: reversal by co-administration of bupropion. Semba J, Wakuta M. Psychiatry Clin Neurosci. 2008 Aug;62(4):435–41. PubMed Europe PMC Scholia
74. Association between the G1001C polymorphism in the GRIN1 gene promoter and schizophrenia in the Iranian population. Galehdari H, Pooryasin A, Foroughmand A, Daneshmand S, Saadat M. J Mol Neurosci. 2009 Jun;38(2):178–81. PubMed Europe PMC Scholia
75. Association of dopamine transporter and monoamine oxidase molecular polymorphisms with sudden infant death syndrome and stillbirth: new insights into the serotonin hypothesis. Filonzi L, Magnani C, Lavezzi AM, Rindi G, Parmigiani S, Bevilacqua G, et al. Neurogenetics. 2009 Feb;10(1):65–72. PubMed Europe PMC Scholia
76. Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children. Tester DJ, Ackerman MJ. Annu Rev Med. 2009;60:69–84. PubMed Europe PMC Scholia
77. Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP). Cummings KJ, Klotz C, Liu WQ, Weese-Mayer DE, Marazita ML, Cooper ME, et al. Acta Paediatr. 2009 Mar;98(3):482–9. PubMed Europe PMC Scholia
78. The role of 5-HT3 and other excitatory receptors in central cardiorespiratory responses to hypoxia: implications for sudden infant death syndrome. Dergacheva O, Kamendi H, Wang X, Pinol RM, Frank J, Jameson H, et al. Pediatr Res. 2009 Jun;65(6):625–30. PubMed Europe PMC Scholia
79. Positron emission tomography quantification of serotonin-1A receptor binding in medication-free bipolar depression. Sullivan GM, Ogden RT, Oquendo MA, Kumar JSD, Simpson N, Huang Y yu, et al. Biol Psychiatry. 2009 Aug 1;66(3):223–30. PubMed Europe PMC Scholia
80. SNP association and sequence analysis of the NOS1AP gene in SIDS. Osawa M, Kimura R, Hasegawa I, Mukasa N, Satoh F. Leg Med (Tokyo). 2009 Apr;11 Suppl 1:S307-8. PubMed Europe PMC Scholia
81. Sudden infant death syndrome and sudden intrauterine unexplained death: correlation between hypoplasia of raphé nuclei and serotonin transporter gene promoter polymorphism. Lavezzi AM, Casale V, Oneda R, Weese-Mayer DE, Matturri L. Pediatr Res. 2009 Jul;66(1):22–7. PubMed Europe PMC Scholia
82. Severe spontaneous bradycardia associated with respiratory disruptions in rat pups with fewer brain stem 5-HT neurons. Cummings KJ, Commons KG, Fan KC, Li A, Nattie EE. Am J Physiol Regul Integr Comp Physiol. 2009 Jun;296(6):R1783-96. PubMed Europe PMC Scholia
83. Interleukin-6 and the serotonergic system of the medulla oblongata in the sudden infant death syndrome. Rognum IJ, Haynes RL, Vege A, Yang M, Rognum TO, Kinney HC. Acta Neuropathol. 2009 Oct;118(4):519–30. PubMed Europe PMC Scholia
84. Dynamic chromatin remodeling events in hippocampal neurons are associated with NMDA receptor-mediated activation of Bdnf gene promoter 1. Tian F, Hu XZ, Wu X, Jiang H, Pan H, Marini AM, et al. J Neurochem. 2009 Jun;109(5):1375–88. PubMed Europe PMC Scholia
85. Estrogen receptor beta regulates the expression of tryptophan-hydroxylase 2 mRNA within serotonergic neurons of the rat dorsal raphe nuclei. Donner N, Handa RJ. Neuroscience. 2009 Oct 6;163(2):705–18. PubMed Europe PMC Scholia
86. GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. Valdivia CR, Ueda K, Ackerman MJ, Makielski JC. Am J Physiol Heart Circ Physiol. 2009 Oct;297(4):H1446-52. PubMed Europe PMC Scholia
87. Prenatal nicotine-exposure alters fetal autonomic activity and medullary neurotransmitter receptors: implications for sudden infant death syndrome. Duncan JR, Garland M, Myers MM, Fifer WP, Yang M, Kinney HC, et al. J Appl Physiol (1985). 2009 Nov;107(5):1579–90. PubMed Europe PMC Scholia
88. Impact of sodium/proton exchanger 3 gene variants on sudden infant death syndrome. Poetsch M, Nottebaum BJ, Wingenfeld L, Frede S, Vennemann M, Bajanowski T. J Pediatr. 2010 Jan;156(1):44-48.e1. PubMed Europe PMC Scholia
89. Mixed lineage kinase phosphorylates transcription factor E47 and inhibits TrkB expression to link neuronal death and survival pathways. Pedraza N, Rafel M, Navarro I, Encinas M, Aldea M, Gallego C. J Biol Chem. 2009 Nov 20;284(47):32980–8. PubMed Europe PMC Scholia
90. Prostaglandin promotion of osteocyte gap junction function through transcriptional regulation of connexin 43 by glycogen synthase kinase 3/beta-catenin signaling. Xia X, Batra N, Shi Q, Bonewald LF, Sprague E, Jiang JX. Mol Cell Biol. 2010 Jan;30(1):206–19. PubMed Europe PMC Scholia
91. Oncogenic BRAFV600E induces expression of neuronal differentiation marker MAP2 in melanoma cells by promoter demethylation and down-regulation of transcription repressor HES1. Maddodi N, Bhat KMR, Devi S, Zhang SC, Setaluri V. J Biol Chem. 2010 Jan 1;285(1):242–54. PubMed Europe PMC Scholia
92. Cytokine gene polymorphisms and sudden infant death syndrome. Ferrante L, Opdal SH, Vege A, Rognum T. Acta Paediatr. 2010 Mar;99(3):384–8. PubMed Europe PMC Scholia
93. Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Cheng J, Van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan B hua, Ye B, et al. Circ Arrhythm Electrophysiol. 2009 Dec;2(6):667–76. PubMed Europe PMC Scholia
94. IL-1 gene cluster polymorphisms and sudden infant death syndrome. Ferrante L, Opdal SH, Vege A, Rognum TO. Hum Immunol. 2010 Apr;71(4):402–6. PubMed Europe PMC Scholia
95. Brainstem serotonergic deficiency in sudden infant death syndrome. Duncan JR, Paterson DS, Hoffman JM, Mokler DJ, Borenstein NS, Belliveau RA, et al. JAMA. 2010 Feb 3;303(5):430–7. PubMed Europe PMC Scholia
96. A common FMO3 polymorphism may amplify the effect of nicotine exposure in sudden infant death syndrome (SIDS). Poetsch M, Czerwinski M, Wingenfeld L, Vennemann M, Bajanowski T. Int J Legal Med. 2010 Jul;124(4):301–6. PubMed Europe PMC Scholia
97. Cardiac muscarinic receptor overexpression in sudden infant death syndrome. Livolsi A, Niederhoffer N, Dali-Youcef N, Rambaud C, Olexa C, Mokni W, et al. PLoS One. 2010 Mar 1;5(3):e9464. PubMed Europe PMC Scholia
98. Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A, et al. Heart Rhythm. 2010 Jun;7(6):771–8. PubMed Europe PMC Scholia
99. Aquaporin-4 gene variation and sudden infant death syndrome. Opdal SH, Vege A, Stray-Pedersen A, Rognum TO. Pediatr Res. 2010 Jul;68(1):48–51. PubMed Europe PMC Scholia
100. miR-16 targets the serotonin transporter: a new facet for adaptive responses to antidepressants. Baudry A, Mouillet-Richard S, Schneider B, Launay JM, Kellermann O. Science. 2010 Sep 17;329(5998):1537–41. PubMed Europe PMC Scholia
101. Variant interleukin 1 receptor antagonist gene alleles in sudden infant death syndrome. Highet AR, Gibson CS, Goldwater PN. Arch Dis Child. 2010 Dec;95(12):1009–12. PubMed Europe PMC Scholia
102. Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant. Gessner BD, Gillingham MB, Birch S, Wood T, Koeller DM. Pediatrics. 2010 Nov;126(5):945–51. PubMed Europe PMC Scholia
103. Activation of tyrosine hydroxylase (TH) gene transcription induced by brain-derived neurotrophic factor (BDNF) and its selective inhibition through Ca(2+) signals evoked via the N-methyl-D-aspartate (NMDA) receptor. Fukuchi M, Fujii H, Takachi H, Ichinose H, Kuwana Y, Tabuchi A, et al. Brain Res. 2010 Dec 17;1366:18–26. PubMed Europe PMC Scholia
104. Transcriptional Regulation of NMDA Receptor Expression. Bai G, Hoffman PW. In: Van Dongen AM, editor. Biology of the NMDA Receptor. Boca Raton (FL): CRC Press/Taylor & Francis; PubMed Europe PMC Scholia
105. A hypoxia-induced positive feedback loop promotes hypoxia-inducible factor 1alpha stability through miR-210 suppression of glycerol-3-phosphate dehydrogenase 1-like. Kelly TJ, Souza AL, Clish CB, Puigserver P. Mol Cell Biol. 2011 Jul;31(13):2696–706. PubMed Europe PMC Scholia
106. Transcriptional regulation of the Na⁺/H⁺ exchanger NHE3 by chronic exposure to angiotensin II in renal epithelial cells. Queiroz-Leite GD, Peruzzetto MC, Neri EA, Rebouças NA. Biochem Biophys Res Commun. 2011 Jun 10;409(3):470–6. PubMed Europe PMC Scholia
107. Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome. Tester DJ, Tan BH, Medeiros-Domingo A, Song C, Makielski JC, Ackerman MJ. Circ Cardiovasc Genet. 2011 Oct;4(5):510–5. PubMed Europe PMC Scholia
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