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Volumn 128, Issue 4, 2014, Pages 621-629

PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population

Author keywords

Autonomic nervous system, ANS; Congenital central hypoventilation syndrome, CCHS; Genetic association; PHOX2B polyalanine repeat length; SNPs, single nucleotide polymorphisms; Sudden infant death syndrome, SIDS; Unexplained sudden infant death, USID

Indexed keywords

HOMEODOMAIN PROTEIN; NBPHOX PROTEIN; PEPTIDE; POLYALANINE; TRANSCRIPTION FACTOR;

EID: 84904385326     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-013-0962-0     Document Type: Article
Times cited : (29)

References (35)
  • 2
    • 84904403226 scopus 로고    scopus 로고
    • Centraal bureau voor statistiek Accessed Dec 2012
    • Centraal bureau voor statistiek (2012) www.cbs.nl. Accessed Dec 2012
    • (2012)
  • 3
    • 80355127676 scopus 로고    scopus 로고
    • SIDS and other sleep-related infant deaths: Expansion of recommendations for a safe infant sleeping environment
    • American Academy of Pediatrics Task Force on Sudden Infant Death Syndrome 10.1542/peds.2011-2285 10.1542/peds.2011-2285
    • American Academy of Pediatrics Task Force on Sudden Infant Death Syndrome (2011) SIDS and other sleep-related infant deaths: expansion of recommendations for a safe infant sleeping environment. Pediatrics 128(5):e1341-e1367. doi: 10.1542/peds.2011-2285
    • (2011) Pediatrics , vol.128 , Issue.5
  • 4
    • 0023811209 scopus 로고
    • Sleeping position and cot death
    • 1:STN:280:DyaL1M%2FhtlCluw%3D%3D 2902332 10.1016/S0140-6736(88)92488-9
    • Engelberts AC, de Jonge GA (1988) Sleeping position and cot death. Lancet 2(8616):899-900
    • (1988) Lancet , vol.2 , Issue.8616 , pp. 899-900
    • Engelberts, A.C.1    De Jonge, G.A.2
  • 5
    • 80054761296 scopus 로고    scopus 로고
    • Postnatal parental smoking: An important risk factor for SIDS
    • 10.1007/s00431-011-1433-6 3175033 21404101 10.1007/s00431-011-1433-6
    • Liebrechts-Akkerman G, Lao O, Liu F et al (2011) Postnatal parental smoking: an important risk factor for SIDS. Eur J Pediatr 170(10):1281-91. doi: 10.1007/s00431-011-1433-6
    • (2011) Eur J Pediatr , vol.170 , Issue.10 , pp. 1281-1291
    • Liebrechts-Akkerman, G.1    Lao, O.2    Liu, F.3
  • 6
    • 12944278908 scopus 로고    scopus 로고
    • The sudden infant death syndrome gene: Does it exist?
    • DOI 10.1542/peds.2004-0683
    • Opdal SH, Rognum TO (2004) The sudden infant death syndrome gene: does it exist? Pediatrics 114(4):e506-12 (Pubitemid 41534572)
    • (2004) Pediatrics , vol.114 , Issue.4
    • Opdal, S.H.1    Rognum, T.O.2
  • 7
    • 84875269418 scopus 로고    scopus 로고
    • Congenital central hypoventilation syndrome and sudden infant death syndrome: Disorders of autonomic regulation
    • 10.1016/j.spen.2013.01.005 23465774 10.1016/j.spen.2013.01.005
    • Rand CM, Patwari PP, Carroll MS, Weese-Mayer DE (2013) Congenital central hypoventilation syndrome and sudden infant death syndrome: disorders of autonomic regulation. Semin Pediatr Neurol 20(1):44-55. doi: 10.1016/j.spen.2013.01.005
    • (2013) Semin Pediatr Neurol , vol.20 , Issue.1 , pp. 44-55
    • Rand, C.M.1    Patwari, P.P.2    Carroll, M.S.3    Weese-Mayer, D.E.4
  • 8
    • 53849113295 scopus 로고    scopus 로고
    • Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): Kindred disorders
    • 1:CAS:528:DC%2BD1cXht1KntbzO 18579454 10.1016/j.resp.2008.05.011
    • Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM (2008) Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders. Respir Physiol Neurobiol 164(1-2):38-48
    • (2008) Respir Physiol Neurobiol , vol.164 , Issue.1-2 , pp. 38-48
    • Weese-Mayer, D.E.1    Berry-Kravis, E.M.2    Ceccherini, I.3    Rand, C.M.4
  • 10
    • 0344033754 scopus 로고    scopus 로고
    • Idiopathic Congenital Central Hypoventilation Syndrome: Analysis of Genes Pertinent to Early Autonomic Nervous System Embryologic Development and Identification of Mutations in PHOX2b
    • Weese-Mayer DE, Berry-Kravis EM, Zhou L et al (2003) Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2B. Am J Med Genet A 123A:267-78 (Pubitemid 37464346)
    • (2003) American Journal of Medical Genetics , vol.123 , Issue.3 , pp. 267-278
    • Weese-Mayer, D.E.1    Berry-Kravis, E.M.2    Zhou, L.3    Maher, B.S.4    Silvestri, J.M.5    Curran, M.E.6    Marazita, M.L.7
  • 16
    • 0035069918 scopus 로고    scopus 로고
    • Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the japanese population
    • DOI 10.1542/peds.107.4.690
    • Narita N, Narita M, Takashima S et al (2001) Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in Japanese population. Pediatrics 107:690-2 (Pubitemid 32268452)
    • (2001) Pediatrics , vol.107 , Issue.4 , pp. 690-692
    • Narita, N.1    Narita, M.2    Takashima, S.3    Nakayama, M.4    Nagai, T.5    Okado, N.6
  • 18
    • 44649135228 scopus 로고    scopus 로고
    • Genes regulating the serotonin metabolic pathway in the brain stem and their role in the etiopathogenesis of sudden infant death syndrome
    • 1:CAS:528:DC%2BD1cXmvVCrsbg%3D 18387780 10.1016/j.ygeno.2008.01.010
    • Nonnis Marzano F, Maldini M, Filonzi L et al (2008) Genes regulating the serotonin metabolic pathway in the brain stem and their role in the etiopathogenesis of sudden infant death syndrome. Genomics 91(6):485-91
    • (2008) Genomics , vol.91 , Issue.6 , pp. 485-491
    • Nonnis Marzano, F.1    Maldini, M.2    Filonzi, L.3
  • 19
    • 67349216610 scopus 로고    scopus 로고
    • No association of serotonin transporter gene variation with sudden infant death syndrome (SIDS) in Caucasians
    • 10.1016/j.legalmed.2009.01.051
    • Haas C, Braun J, Bar W, Bartsch C (2009) No association of serotonin transporter gene variation with sudden infant death syndrome (SIDS) in Caucasians. Leg Med (Tokyo). doi: 10.1016/j.legalmed.2009.01.051
    • (2009) Leg Med (Tokyo)
    • Haas, C.1    Braun, J.2    Bar, W.3    Bartsch, C.4
  • 21
    • 84880050633 scopus 로고    scopus 로고
    • Histological findings in unclassified sudden infant death, including sudden infant death syndrome
    • 10.2350/12-10-1262-OA.1 23331080 10.2350/12-10-1262-OA.1
    • Liebrechts-Akkerman G, de Jonge GA, Bovee JVMG et al (2013) Histological findings in unclassified sudden infant death, including sudden infant death syndrome. Pediatr Dev Pathol 16(3):168-76. doi: 10.2350/12-10-1262-OA.1
    • (2013) Pediatr Dev Pathol , vol.16 , Issue.3 , pp. 168-176
    • Liebrechts-Akkerman, G.1    De Jonge, G.A.2    Bovee, J.3
  • 22
    • 84871337994 scopus 로고    scopus 로고
    • The Generation R Study: Design and cohort update 2012
    • 10.1007/s10654-012-9735-1 23086283 10.1007/s10654-012-9735-1
    • Jaddoe VW, van Duijn CM, Franco OH et al (2012) The Generation R Study: design and cohort update 2012. Eur J Epidemiol 27(9):739-56. doi: 10.1007/s10654-012-9735-1
    • (2012) Eur J Epidemiol , vol.27 , Issue.9 , pp. 739-756
    • Jaddoe, V.W.1    Van Duijn, C.M.2    Franco, O.H.3
  • 23
    • 0000108127 scopus 로고
    • A rapid and quantitative DNA sex test: Fluorescence-based PCR analysis of X-Y homologous gene amelogenin
    • 1:CAS:528:DyaK2cXks1yjsw%3D%3D 8251166 640-1
    • Sullivan KM, Mannucci A, Kimpton CP, Gill P (1993) A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Biotechniques 15(4):636-638, 640-1
    • (1993) Biotechniques , vol.15 , Issue.4 , pp. 636-638
    • Sullivan, K.M.1    Mannucci, A.2    Kimpton, C.P.3    Gill, P.4
  • 24
    • 84904403210 scopus 로고    scopus 로고
    • Accessed 2005
    • www.hapmap.org. Accessed 2005
  • 25
    • 0032532178 scopus 로고    scopus 로고
    • Multiple correlations and Bonferroni's correction
    • DOI 10.1016/S0006-3223(98)00043-2, PII S0006322398000432
    • Curtin F, Schulz P (1998) Multiple correlations and Bonferroni's correction. Biol Psychiatry 44(8):775-7 (Pubitemid 28496794)
    • (1998) Biological Psychiatry , vol.44 , Issue.8 , pp. 775-777
    • Curtin, F.1    Schulz, P.2
  • 28
    • 84865758477 scopus 로고    scopus 로고
    • Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death
    • 10.1016/j.autneu.2012.06.005 1:CAS:528:DC%2BC38XhtVekt7%2FO 22796552 10.1016/j.autneu.2012.06.005
    • Lavezzi AM, Weese-Mayer DE, Yu MY et al (2012) Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death. Auton Neurosci 170(1-2):12-9. doi: 10.1016/j.autneu.2012.06.005
    • (2012) Auton Neurosci , vol.170 , Issue.1-2 , pp. 12-19
    • Lavezzi, A.M.1    Weese-Mayer, D.E.2    Yu, M.Y.3
  • 30
    • 3042638014 scopus 로고    scopus 로고
    • Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome
    • DOI 10.1620/tjem.203.65
    • Kijima K, Sasaki A, Niki T et al (2004) Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. Tohoku J Exp Med 203(1):65-8 (Pubitemid 38832657)
    • (2004) Tohoku Journal of Experimental Medicine , vol.203 , Issue.1 , pp. 65-68
    • Kijima, K.1    Sasaki, A.2    Niki, T.3    Umetsu, K.4    Osawa, M.5    Matoba, R.6    Hayasaka, K.7
  • 31
    • 84855901721 scopus 로고    scopus 로고
    • Variable human phenotype associated with novel deletions of the PHOX2B gene
    • 10.1002/ppul.21527 21830319 10.1002/ppul.21527
    • Jennings LJ, Yu M, Rand CM et al (2012) Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol 47(2):153-61. doi: 10.1002/ppul.21527
    • (2012) Pediatr Pulmonol , vol.47 , Issue.2 , pp. 153-161
    • Jennings, L.J.1    Yu, M.2    Rand, C.M.3
  • 32
    • 0345181834 scopus 로고    scopus 로고
    • Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways
    • DOI 10.1242/dev.00866
    • Dauger S, Pattyn A, Lofaso F et al (2003) Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways. Development 130(26):6635-42 (Pubitemid 38088862)
    • (2003) Development , vol.130 , Issue.26 , pp. 6635-6642
    • Dauger, S.1    Pattyn, A.2    Lofaso, F.3    Gaultier, C.4    Goridis, C.5    Gallego, J.6    Brunet, J.-F.7
  • 34
    • 79959928424 scopus 로고    scopus 로고
    • Excavation of a buried treasure - DNA, mRNA, miRNA and protein analysis in formalin fixed, paraffin embedded tissues
    • 1:CAS:528:DC%2BC3MXnsl2hsbo%3D 21472693
    • Klopfleisch R, Weiss AT, Gruber AD (2011) Excavation of a buried treasure - DNA, mRNA, miRNA and protein analysis in formalin fixed, paraffin embedded tissues. Histol Histopathol 26(6):797-810
    • (2011) Histol Histopathol , vol.26 , Issue.6 , pp. 797-810
    • Klopfleisch, R.1    Weiss, A.T.2    Gruber, A.D.3
  • 35
    • 3943088401 scopus 로고    scopus 로고
    • AutoDimer: A screening tool for primer-dimer and hairpin structures
    • Vallone PM, Butler JM (2004) Autodimer: a screening tool for primer-dimer and hairpin structures. Biotechniques 37(2):226-31 (Pubitemid 39050463)
    • (2004) BioTechniques , vol.37 , Issue.2 , pp. 226-231
    • Vallone, P.M.1    Butler, J.M.2


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