Uneingeschränkter Zugang

Fragile x syndrome and,-dependent diseases - Clinical presentation, epidemiology and molecular background


Zitieren

Loomis EW, Eid JS, Peluso P, et al. Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene. Genome Res. 2013; DOI: 10.1101/gr.141705.112.Loomis EW Eid JS Peluso P et al Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene Genome Res 2013 10.1101/gr.141705.112Open DOISearch in Google Scholar

Jin P, Warren ST Understending the molecular basis of fragile X syndrome. Hum. Mol. Genet 2000; DOI: 10.1093/ hmg/9.6.901.Jin P Warren ST Understending the molecular basis of fragile X syndrome Hum. Mol. Genet 2000 10.1093/hmg/9.6.901Open DOISearch in Google Scholar

Oostra BA, Willemsen R FMR1: a gene with three faces. Biochim Biophys Acta. 2009; DOI: 10.1016/j. bbagen.2009.02.007.Oostra BA Willemsen R FMR1: a gene with three faces Biochim Biophys Acta 2009 10.1016/j.bbagen.2009.02.007Open DOISearch in Google Scholar

Price DK, Zhang F, Ashley CT, et al. The ChickenFMR1Gene Is Highly Conserved with a CCT Untranslated Repeat and Encodes an RNA-Binding Protein. Genomics. 1996;31:3-12.Price DK Zhang F Ashley CT et al The ChickenFMR1Gene Is Highly Conserved with a CCT Untranslated Repeat and Encodes an RNA-Binding Protein Genomics 1996313 1210.1006/geno.1996.0002Search in Google Scholar

Willemsen R, Levenga J, Oostra BA CGG repeat in the FMR1 gene: size matters Clin Genet. 2011; DOI: 10.1111/j.1399-0004.2011.01723.x.Willemsen R Levenga J Oostra BA CGG repeat in the FMR1 gene: size matters Clin Genet 2011 10.1111/j.1399-0004.2011.01723.xOpen DOISearch in Google Scholar

Vasilyev N, Polonskaia A, Darnell JC et al. Crystal structure reveals specific recognition of a G-quadruplex RNA by a β-turn in the RGG motif of FMRP Proc Natl Acad Sci USA. 2015; DOI: 10.1073/pnas.1515737112.Vasilyev N Polonskaia A Darnell JC et al Crystal structure reveals specific recognition of a G-quadruplex RNA by a β-turn in the RGG motif of FMRP Proc Natl Acad Sci USA 2015 10.1073/pnas.1515737112Open DOISearch in Google Scholar

Jin P, Zarnescu DC, Ceman S, Mika Nakamoto, et al. Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway Nat Neurosci. 2004; DOI: 10.1038/nn1174.Jin P Zarnescu DC Ceman S Mika Nakamoto et al Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway Nat Neurosci 2004 10.1038/nn1174Open DOISearch in Google Scholar

Miyashiro KY, Beckel-Mitchener A, Purk TP, et al. RNA Cargoes Associating with FMRP Reveal Deficits in Cellular Functioning in Fmr1 Null Mice Neuron. 2003; DOI: org/10.1016/S0896-6273(03)00034-5.Miyashiro KY Beckel-Mitchener A Purk TP et al RNA Cargoes Associating with FMRP Reveal Deficits in Cellular Functioning in Fmr1 Null Mice Neuron 2003 DOI: org/ 10.1016/S0896-6273(03)00034-5Open DOISearch in Google Scholar

Rzońca SO, Gos ME Rola białka FMRP w prawidłowym funkcjonowaniu organizmu oraz patogenezie zespołu łamliwego chromosomu X. Postępy Biologii Komórki. 2012;39:459-476.Rzońca SO Gos ME Rola białka FMRP w prawidłowym funkcjonowaniu organizmu oraz patogenezie zespołu łamliwego chromosomu X Postępy Biologii Komórki 201239459 476Search in Google Scholar

Bassell GJ, Warren ST Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function. Neuron. 2008; DOI: 10.1016/j.neuron.2008.10.004.Bassell GJ Warren ST Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function Neuron 2008 10.1016/j.neuron.2008.10.004369199518957214Open DOISearch in Google Scholar

Till SM, Li H-L, Miniaci MC, et al. A presynaptic role for FMRP during protein synthesis-dependent long-term plasticity in Aplysia. Learn Mem. 2010; DOI: 10.1101/ lm.1958811.Till SM Li H-L Miniaci MC et al A presynaptic role for FMRP during protein synthesis-dependent long-term plasticity in Aplysia Learn Mem 2010 10.1101/lm.1958811302396721177378Open DOISearch in Google Scholar

Dictenberg JB, Swanger SA, Antar LN, et al. A Direct Role for FMRP in Activity-Dependent Dendritic mRNA Transport Links Filopodial-Spine Morphogenesis to Fragile X Syndrome. Dev Cell. 2008; DOI: 10.1016/j.devcel.2008.04.003.Dictenberg JB Swanger SA Antar LN et al A Direct Role for FMRP in Activity-Dependent Dendritic mRNA Transport Links Filopodial-Spine Morphogenesis to Fragile X Syndrome Dev Cell 2008 10.1016/j.devcel.2008.04.003245322218539120Open DOISearch in Google Scholar

McLennan Y, Polussa J, Tassone F, et al. Fragile X Syndrome. Curr Genomics. 2011; DOI: 10.2174/138920211795677886.McLennan Y Polussa J Tassone F et al Fragile X Syndrome Curr Genomics 2011 10.2174/138920211795677886313700622043169Open DOISearch in Google Scholar

Usdin K, House NC, Freudenreich CH Repeat instability during DNA repair: Insights from model systems. Crit Rev Biochem Mol Biol. 2015; DOI: 10.3109/10409238.2014.999192.Usdin K House NC Freudenreich CH Repeat instability during DNA repair: Insights from model systems Crit Rev Biochem Mol Biol 2015 10.3109/10409238.2014.999192445447125608779Open DOISearch in Google Scholar

Rzońca SO, Gos M, Szopa D, et al. Towards a Better Molecular Diagnosis of FMR1-Related Disorders − A Multiyear Experience from a Reference Lab. Genes. 2016; 7(9), 59; doi:10.3390/genes7090059Rzońca SO Gos M Szopa D et al Towards a Better Molecular Diagnosis of FMR1-Related Disorders − A Multiyear Experience from a Reference Lab Genes 2016 79 59 10.3390/genes7090059504239027598204Open DOISearch in Google Scholar

Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology. 2001;57:127-130.Hagerman RJ Leehey M Heinrichs W et al Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X Neurology 200157127 13010.1212/WNL.57.1.127Search in Google Scholar

Sorensen PL, Gane LW W, Yarborough M, et al., Newborn Screening and Cascade Testing for FMR1 Mutations. Am J Med Genet A. 2013; DOI: 10.1002/ajmg.a.35680Sorensen PL Gane LW W Yarborough M et al Newborn Screening and Cascade Testing for FMR1 Mutations Am J Med Genet A 2013 10.1002/ajmg.a.35680398046923239591Open DOISearch in Google Scholar

Yrigollen CM, Durbin-Johnson B, Gane L, et al. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012; DOI: 10.1038/gim.2012.34.Yrigollen CM Durbin-Johnson B Gane L et al AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome Genet Med 2012 10.1038/gim.2012.34399028322498846Open DOISearch in Google Scholar

Milewski M, Bal J, Mazurczak T. Między pokoleniowe przekazywanie mutacji warunkujących Zespół łamliwego chromosomu X. Ped Pol. 1996;71:191-196.Milewski M Bal J Mazurczak T Między pokoleniowe przekazywanie mutacji warunkujących Zespół łamliwego chromosomu X Ped Pol 199671191 196Search in Google Scholar

Stembalska A, Łaczmańska I, Gil J, Pesz KA. Fragile X syndrome in females − a familial case report and review of the literature. Dev Period Med. 2016;20(2):99-104.Stembalska A Łaczmańska I Gil J Pesz KA Fragile X syndrome in females − a familial case report and review of the literature Dev Period Med 201620299 104Search in Google Scholar

Saldarriaga W, Tassone F, González-Teshima LY, et al. Fragile X Syndrome. Colomb Med (Cali). 2014;45:190-198.Saldarriaga W Tassone F González-Teshima LY et al Fragile X Syndrome Colomb Med (Cali) 201445190 19810.25100/cm.v45i4.1810Search in Google Scholar

Moeschler JB, Shevell M Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays. Pediatrics 2014; DOI: 10.1542/peds.2014-1839.Moeschler JB Shevell M Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays Pediatrics 2014 10.1542/peds.2014-183925157020Open DOISearch in Google Scholar

Berry-Kravis E, Doll E, Sterling A, et al. Development of an Expressive Language Sampling Procedure in Fragile X Syndrome: A Pilot Study. J Dev Behav Pediatr. 2013; DOI: 10.1097/DBP.0b013e31828742fc.Berry-Kravis E Doll E Sterling A et al Development of an Expressive Language Sampling Procedure in Fragile X Syndrome: A Pilot Study J Dev Behav Pediatr 2013 10.1097/DBP.0b013e31828742fc365439123669871Open DOISearch in Google Scholar

Alisch RS, Wang T, Chopra P, et al. Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus. BMC Med Genet. 2013; DOI: 10.1186/1471-2350-14-18.Alisch RS Wang T Chopra P et al Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus BMC Med Genet 2013 10.1186/1471-2350-14-18359919723356558Open DOISearch in Google Scholar

Jastrzębski K, Kacperska MG, Tadeusz Pietras T, et al. Genetyczne przyczyny upośledzenia umysłowego, z którymi neurolog może spotkać się w codziennej praktyce. Atual Neurol. 2013;13:119-129.Jastrzębski K Kacperska MG Tadeusz Pietras T et al Genetyczne przyczyny upośledzenia umysłowego, z którymi neurolog może spotkać się w codziennej praktyce Atual Neurol 201313119 129Search in Google Scholar

Hagerman PJ, Hagerman RJ Fragile X-Associated Temor/Ataxia Syndrome (FXTAS). Ment Retard Dev Disabil Res Rev. 2004; DOI: 10.1002/mrdd.20005.Hagerman PJ Hagerman RJ Fragile X-Associated Temor/Ataxia Syndrome (FXTAS) Ment Retard Dev Disabil Res Rev 2004 10.1002/mrdd.2000514994285Open DOISearch in Google Scholar

Soontarapornchai K, Ricardo Maselli R, Fenton-Farrell G, et al. Abnormal Nerve Conduction Features in Fragile X Premutation Carriers. Arch Neurol. 2008; DOI: 10.1001/ archneur.65.4.495.Soontarapornchai K Ricardo Maselli R Fenton-Farrell G et al Abnormal Nerve Conduction Features in Fragile X Premutation Carriers Arch Neurol 2008 10.1001/archneur.65.4.495288846618413472Open DOISearch in Google Scholar

Chen Y, Tassone F, Berman RF, et al. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet. 2010; DOI: 10.1093/hmg/ddp479.Chen Y Tassone F Berman RF et al Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration Hum Mol Genet 2010 10.1093/hmg/ddp479279215619846466Open DOISearch in Google Scholar

GarciaI´a-Alegria´a E, Ibanez B, Minguez M, et al. Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA. 2007; DOI: 10.1261/rna.206307.GarciaI´a-Alegria´a E Ibanez B Minguez M et al Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models RNA 2007 10.1261/rna.206307185281017449730Open DOISearch in Google Scholar

Gutiérrez JF, Bajaj K, Klugman SD. Prenatal Screening for Fragile X: Carriers, Controversies, and Counseling. Rev Obstet Gynecol. 2013;6:1-7.Gutiérrez JF Bajaj K Klugman SD Prenatal Screening for Fragile X: Carriers, Controversies, and Counseling Rev Obstet Gynecol 201361 7Search in Google Scholar

Hill MK, Archibald AD, Cohen J, et al. A systematic review of population screening for fragile X syndrome. Genet Med. 2010; DOI: 10.1097/GIM.0b013e3181e38?6.Hill MK Archibald AD Cohen J et al A systematic review of population screening for fragile X syndrome Genet Med 2010 10.1097/GIM.0b013e3181e38?6Open DOISearch in Google Scholar

Coffee B, Keith K, Albizua I, et al. Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA. Am J Hum Genet. 2009; DOI: 10.1016/j. ajhg.2009.09.007.Coffee B Keith K Albizua I et al Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA Am J Hum Genet 2009 10.1016/j.ajhg.2009.09.007275655019804849Open DOISearch in Google Scholar

L´evesque S, Dombrowski C, Morel M-L, R et al. Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother − newborn pairs from the general population. Clin Genet. 2009; DOI: 10.1111/j.1399-0004.2009.01237.x.L´evesque S Dombrowski C Morel M-L R et al Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother − newborn pairs from the general population Clin Genet 2009 10.1111/j.1399-0004.2009.01237.x19863547Open DOISearch in Google Scholar

Tejada M-I, Glover G, Martínez F, et al. Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families − Performed in 12 Clinical Laboratories in Spain BioMed Research International 2014; DOI: org/10.1155/2014/195793.Tejada M-I Glover G Martínez F et al Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families − Performed in 12 Clinical Laboratories in Spain BioMed Research International 2014 DOI: org/ 10.1155/2014/195793405850524987673Open DOISearch in Google Scholar

Saldarriaga W, Tassone F, González-Teshima LY, et al. Fragile X Syndrome Colomb Med (Cali). 2014;45:190-198.Saldarriaga W Tassone F González-Teshima LY et al Fragile X Syndrome Colomb Med (Cali) 201445190 19810.25100/cm.v45i4.1810Search in Google Scholar

Chonchaiya W, Au J, Schneider A, et al. Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet. 2012; DOI: 10.1007/s00439-011-1106-6.Chonchaiya W Au J Schneider A et al Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder Hum Genet 2012 10.1007/s00439-011-1106-6410513422001913Open DOISearch in Google Scholar

Nawara M, Bal J, Mazurczak T. Monogenowe przyczyny izolowanej postaci niepełnosprawności intelektualnej sprzężonej z chromosomem X. Med Wieku Rowoj. 2002;6(4):281-294.Nawara M Bal J Mazurczak T Monogenowe przyczyny izolowanej postaci niepełnosprawności intelektualnej sprzężonej z chromosomem X Med Wieku Rowoj 200264281 294Search in Google Scholar

Nawara M, Jurek M, Bal J, Mazurczak T. Mapowanie genów w 14 rodzinach z niespecyficzną niepełnosprawnością intelektualną sprzężoną z chromosomem X. Med Wieku Rozwoj. 2009;13(2):94-113.Nawara M Jurek M Bal J Mazurczak T Mapowanie genów w 14 rodzinach z niespecyficzną niepełnosprawnością intelektualną sprzężoną z chromosomem X Med Wieku Rozwoj 200913294 113Search in Google Scholar

Nawara M, Bal J, Mazurczak T. Niepełnosprawność intelektualna sprzężona z chromosomem X. Aspekty genetyczne i molekularne. Wydawnictwo Akademii Pedagogiki Specjalnej, 2010.Nawara M Bal J Mazurczak T Niepełnosprawność intelektualna sprzężona z chromosomem X Aspekty genetyczne i molekularne. Wydawnictwo Akademii Pedagogiki Specjalnej 2010Search in Google Scholar

eISSN:
2719-535X
Sprache:
Englisch
Zeitrahmen der Veröffentlichung:
Volume Open
Fachgebiete der Zeitschrift:
Medizin, Klinische Medizin, Kinder- und Jugendmedizin, Kinderhämatolgie und -Onkologie, Öffentliches Gesundheitswesen