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Academic literature on the topic 'Fragile X syndrome'

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Published: 4 June 2021
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Journal articles on the topic "Fragile X syndrome"

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Tassanakijpanich, Nattaporn, Ana María Cabal-Herrera, Maria Jimena Salcedo-Arellano, and Randi Jenssen Hagerman. "Fragile X Syndrome and Targeted Treatments." Journal of Biomedicine and Translational Research 6, no. 1 (March 31, 2020): 23–33. http://dx.doi.org/10.14710/jbtr.v6i1.7321.

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Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies. Here we review the many medications that have been studied in patients with FXS and some of these medications are available for clinical use by wise clinicians. Other medications are not currently available by prescription because they are not approved by the FDA. No medication has received specific approval for treatment of FXS, although some have shown benefit from clinical studies. There is much to be done in the treatment of those with FXS and this report describes those pharmacological treatments that target the neurobiological mechanisms that are dysregulated by the lack of the Fragile X Protein (FMRP) in those with FXS.
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Phalen, J. A. "Fragile X Syndrome." Pediatrics in Review 26, no. 5 (May 1, 2005): 181–82. http://dx.doi.org/10.1542/pir.26-5-181.

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Hagerman, Paul J., and Randi Hagerman. "Fragile X syndrome." Current Biology 31, no. 6 (March 2021): R273—R275. http://dx.doi.org/10.1016/j.cub.2021.01.043.

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Millichap, J. Gordon. "Fragile-X Syndrome." Pediatric Neurology Briefs 2, no. 3 (March 1, 1988): 18. http://dx.doi.org/10.15844/pedneurbriefs-2-3-3.

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McLennan, Yingratana, Jonathan Polussa, Flora Tassone, and Randi Hagerman. "Fragile X Syndrome." Current Genomics 12, no. 3 (May 1, 2011): 216–24. http://dx.doi.org/10.2174/138920211795677886.

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Phalen, James A. "Fragile X Syndrome." Pediatrics In Review 26, no. 5 (May 1, 2005): 181–82. http://dx.doi.org/10.1542/pir.26.5.181.

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Dubey, Sneha R., and Hanokh J. Chakranarayan. "Fragile X Syndrome." International Journal of Advances in Nursing Management 6, no. 4 (2018): 339. http://dx.doi.org/10.5958/2454-2652.2018.00078.1.

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McNally, Steve. "Fragile X syndrome." Learning Disability Practice 13, no. 10 (December 8, 2010): 11. http://dx.doi.org/10.7748/ldp.13.10.11.s19.

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Atkinson, Stacey. "Fragile X syndrome." Learning Disability Practice 18, no. 3 (March 30, 2015): 15. http://dx.doi.org/10.7748/ldp.18.3.15.s18.

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Sinéad, Foran. "Fragile X syndrome." Learning Disability Practice 21, no. 4 (July 24, 2018): 17. http://dx.doi.org/10.7748/ldp.21.4.17.s17.

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Dissertations / Theses on the topic "Fragile X syndrome"

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Yu, Sui. "Molecular basis of fragile X syndrome /." Title page, contents and summary only, 1992. http://web4.library.adelaide.edu.au/theses/09PH/09phy937.pdf.

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Bakker-van, Kempen Katharina Elisabeth. "Mouse models for the fragile X syndrome." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 2002. http://hdl.handle.net/1765/12094.

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Wang, Qin. "Molecular genetic analysis of fragile X syndrome." Thesis, King's College London (University of London), 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.284140.

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Hussein, Sultana Muhammad School of Pathology UNSW. "Fragile X mental retardation and fragile X chromosomes in the Indonesian population." Awarded by:University of New South Wales. School of Pathology, 1998. http://handle.unsw.edu.au/1959.4/33198.

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The Indonesian archipelago comprises more than 17,000 islands, inhabited by ~200 million people constituting more than 350 recognizable ethnic and tribal groups which can be classified into two broad ethno-linguistic groups [the Austronesian (AN) and non-Austronesian (NAN) speaking peoples] and 3 physical anthropology groups (Deutero Malay, Proto Malay and Papuan). The origins of these groups are of considerable anthropological interest. The anthropology of Indonesia is extremely complex and still controversial. The present populations of Indonesia show very great diversity. The data presented below result from an investigation of the Fragile X A syndrome and the size and distribution of alleles at fragile sites on the X chromosome among Javanese males with developmental disability (DD) and unselected males from 10 major Indonesian ethnic groups. The Fragile X syndrome is caused by expansion of a CGG trinucleotide repeat array in the 5' untranslated region of the FMR-1 gene at Xq27.3. Normal X chromosomes have between 6-54 CGG trinucleotide repeats, whereas premutation alleles have 55-230 and full mutation alleles more than 230 repeats. In a study of predominantly Caucasian males with intellectual disability, the prevalence of Fragile X syndrome is estimated to be approximately 1:4,000. FRAXE mental retardation syndrome is caused by an expansion of a GCC trinucleotide repeat in the 5'UTR of FMR2 gene located 600 kb telomeric to FMR1. The prevalence of FMR2 is 1-2 per 100,000 live births. FMR2 common alleles consist of 11-30 GGC repeats; intermediate alleles between 31-60 GCC repeats; premutation alleles with 61-200 repeats and full mutation alleles have over 200 repeats with attendant methylation of the repeat array The first Indonesian screening program aimed at determining the presence and prevalence of fragile XA syndrome among individuals with mild DD (IQ above 50) from special schools (N=205) and isolated areas (N=50) of Java was undertaken in 1994-1996 by cytogenetic and molecular studies. In this first study 4 fragile X positive children were found among 255 males with DD. The estimated prevalence of fragile-X in males with mild DD from special schools was 1.95% (5/205) and the overall prevalence was 1.57% (4/255). The number of trinucleotide repeats in the 5' untranslated regions of the FMR1 and FMR2 genes were determined by PCR in 254 Fragile XA-negative Javanese male children with DD. The distribution of FMR1 and FMR2 trinucleotide repeat alleles was found to be significantly different in the Indonesian population with DD compared to that in equivalent Caucasian populations. The trimodal distribution of Indonesian FMR1 alleles (29, 30 and 36 repeats) is largely in agreement with findings from other Asian populations). This provides supportive evidence that the origin of Indonesians could be the same as that of the Chinese and Japanese. Sequence analysis was performed on the trinucleotide repeat arrays of the 27 individuals' FMR1 alleles in the 'grey zone' (35-52 repeats). The identification of 16 unrelated individuals with a (CGG)36 allele that also contains a (CGG)6 segment [(CGG)9AGG(CGG)9AGG(CGG)6 AGG(CGG)9 or 9A9A6A9 pattern] is in agreement with earlier observations in the Japanese population. It is proposed that this FMR1 array pattern may be specific for Asian populations and that Javanese and Japanese populations may have arisen from a single progenitor population. The presence of pure 25, 33 and 34 CGGs in FMR1 alleles with 36, 44 and 45 repeats respectively, suggests that these may represent alleles at high risk for instability and may therefore be at early stages of expansion to a premutation. The lack of the characteristic (CGG)6 in all three alleles with ?? 25 pure CGG arrays suggests that the most common Asian 36 repeat allele is not predisposed to slippage expansion. Seven of the 8 alleles with 36 CGG repeats could be sequenced. Seven of 36 CGG repeats FMR1 alleles from the Hiri population has been sequenced and 4 alleles indicated 9A9A6A9 pattern, 1 sample with 10A25 pattern Two of the remaining alleles showed 12A6A6A9 structure, which consisted of a tandem duplication of the (CGG)6 segment. The presence of a tandem duplication of (CGG)6 segments has never been reported in any other population. The other major findings of this study are that FRAXE syndrome is a rare cause of developmental disability in this predominantly-Javanese population. The most common FMR2 (GCC)20 allele in this selected Asian population is significantly longer than that previously reported for Caucasian populations. There was a weak correlation between the overall length of the FMR1 and FMR2 repeat arrays within the normal range (Spearman's Rank Correlation = 0.130, p-value=0.042) in the Indonesian population, which have been no previous associations reported for alleles within the normal range. One approach to studying the origins of the human populations is to study the genetic structure of polymorphic alleles such as those at the FMR1 locus and its linked microsatellite markers DXS548 and FRAXAC1. Length polymorphisms of the FMR1 gene (CGG)n repeat array, DXS548 and FRAXAC1 were studied in a total of 1,008 unselected males from 10 different Indonesian ethnic groups. FMR1 alleles were identified ranging from 8 to 57 CGG repeats. The most common CGG repeat allele was 29 (45.6%) followed by 30 (27.4%) and 36 repeats (8.0%). One hundred and forty four grey zone (3-52 CGG) alleles were found in the study population. Four people of the same ethnic group from an isolated island in Eastern Indonesia (Hiri, Ternate), a representative of the NAN ethnolinguistic group, had CGG repeat lengths of 55-57. The prevalence of these alleles is estimated to be 3.3% (4/120) in the population of Hiri or 0.4% (4/1008) of whole Indonesian population. Thirteen different alleles were found at the DXS548 locus, of which allele numbers 7 [194 bp] (44.1%), 6.5 [195bp] (43.5%) and 6 [196bp] (7.5%) are the most common. Seven rare alleles, some of which have not been previously found in Asian peoples were also identified (190, 191,192, 193, 197,198, 199, 202, 204 and 206) and accounted for 3.9% of the total. The odd number alleles were dominantly found in this study whereas almost none found in Caucasian. The finding of many "odd numbered" alleles DXS548 has never been found in other Asian population and has only been documented extremely rarely in Caucasians and Africans. Five different alleles of FRAXAC1 identified with alleles D [106 bp] (62.2%) and C [108bp] (35.6%) accounting for 97.8% of FRAXAC1 alleles in the population. Three rare alleles (104, 110, 112 bp = 2.2%) were identified that have not been previously found in other Asian populations (1-3). There is a striking linkage disequilibrium of FMR1 alleles with FRAXAC1 (p=0.0001), 88% of 29 (CGG)n repeats alleles associated with FRAXAC1 allele D (106bp) versus only 17% with the 30 (CGG)n repeat alleles, which is in agreement with other studies. The value of D' was calculated to be 0.7. The longer alleles of both DXS548 and FRAXAC1 were found mostly in the NAN ethnolinguistic group. Moreover the Irian Jaya people also showed a higher percentage of people with 30 CGG repeats and the 108 bp FRAXAC1. The Eastern Indonesian NAN groups demonstrate a different genetic background probably due to the contribution of Melanesian peoples. The Analysis of Molecular Variance (AMOVA) identified that the vast majority of genetic diversity occurs within, rather than between, ethnic groups. These data are consistent with a model where there is sufficient migration (~20 per generation) between populations to minimise differentiation of population through genetic drift. The results obtained are consistent with three clusters of populations that share similar allele frequencies at the fragile X locus. The most clearly defined cluster is based in the east of Indonesia and includes the two Irian populations, Minahasans and Hiri. A surprising finding was that the Minahasan who are Deutero-Malay in origin and physical appearance are genetically closer to the Irianese. This may reflect the admixture of Melanesian alleles or other eastern Indonesian alleles as a result of their geographic location in that part of Indonesia. The second major cluster is largely based in the west of the country and is composed of the following Deutero-Malay populations; Javanese, Balinese, Acehnese but which also includes people from Ternate (not including those from Hiri). Using Delta Mu and Nei's genetic distance for FMR1 locus in this study the Javanese were shown to have the closest distance to Balinese which is consistent with anthropological data and with published data. The third group is a "western and central" group composed of Bimanese, Dayak and Sundanese who share some features of the western and eastern clusters but mostly resemble the western Indonesian populations. Bima is located in the lesser Sunda in between west Indonesia and east Indonesia. The Bimanese are of mixed Deutero & Proto Malay origin that is consistent with their geographic location. The Bataks are distinctive and sit somewhat apart in this scheme. In this study, Bataks were found not to resemble the other Proto-Malay group studied (the Dayak). The Dayaks were found to have fewer alleles than the Bataks at FRAXAC1 and DXS548. In all four methods of calculating genetic distance Bataks showed a large genetic distance to almost all other ethnic groups. There are differences in allele frequency between east and west Indonesia as well as other Asian nations, but the genetic similarities between these groups are also very impressive. The findings from this study are consistent with other genetic anthropological evidence that the people of Indonesia have the same origin as North-east Asian groups. This model is referred to as the "express train from Taiwan" in which the Austronesian speakers are proposed to have radiated from Taiwan bringing the Malayo-Polynesian language group to the Philippines, Borneo and Sulawesi around 5000-4500 B.P.E. However Richards et al.(1998) have used the diversity in the mtDNA D Loop to propose an alternative to the "express train" model. The "two train7quot; model proposes that the Austronesian languages originated within eastern Indonesia during the Pleistocene era and spread through Melanesia and into the remote Pacific within the past 6,000 years. Unfortunately the high migration rates between population groups that were demonstrated in this thesis and the known migration patterns of populations through Indonesia preclude determining whether the observed allelic heterogeneity is a function of the original population or due to the admixture of several gene pools in more recent times.
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Mankowski, Jean Boswell Simeonsson Rune J. Hatton Deborah Dominey. "Mood, anxiety, and stress in mothers of children with Fragile X syndrome, autism, and Fragile X syndrome and autism." Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2007. http://dc.lib.unc.edu/u?/etd,772.

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Thesis (Ph. D.)--University of North Carolina at Chapel Hill, 2007.
Title from electronic title page (viewed Dec. 18, 2007). "... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Department of Education (School Psychology)." Discipline: Education; Department/School: Education.
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6

Kogan, Cary Samuel. "Visual processing deficits in the Fragile X Syndrome." Thesis, McGill University, 2005. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=85927.

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A series of empirical studies is presented that examine the contribution of Fragile X Mental Retardation 1 (FMR1) gene expression to the structure and function of the visual system. This contribution is documented using a histological approach in human and nonhuman primate tissue in conjunction with psychophysical testing of Fragile X Syndrome affected patients who are lacking FMR1 expression.
In the first set of experiments, immunohistological studies of unaffected human and primate brain tissue were carried out to reveal the staining pattern for Fragile X Mental Retardation Protein (FMRP), the protein product of the FMR1 gene, within the two main subcortical pathways at the level of the lateral geniculate nucleus (LGN). FMRP is expressed in significantly greater quantity within the magnocellular (M) neurons of the LGN when compared to levels obtained from the parvocellular (P) neurons. This finding suggests that M neurons depend on FMRP to greater extent than P neurons for determining their normal structure and function. A subsequent histological analysis of the LGN from a FXS affected individual revealed atypical LGN composed of small-sized neurons that were more P- than M-like. This result supports the notion that with the lack of FMR1 expression as occurs in FXS, the impact is greatest to M neuron morphology.
A second set of experiments explored the idea that the M neuron pathology in FXS results in a functional deficit for processing of visual information carried by this pathway. Detection thresholds for stimuli known to probe either M or P-pathway integrity were obtained from individuals affected by FXS as well as age- and developmental-matched control participants. In support of this hypothesis, FXS affected individuals displayed significantly elevated thresholds for M-but not P-specific achromatic visual stimuli. The selectivity of this deficit was verified in a consequent experiment that evaluated colour vision, a visual attribute known to be exclusively processed by the P-pathway. Affected individuals did not differ significantly from developmental-matched control participants in their ability to detect chromatic stimuli. Finally, the effect of the M pathway deficit on cortical visual function was assessed. Results of these experiments reveal that the thresholds for detection of coherent motion, but not form, are significantly elevated in the FXS group. This finding suggests that the parietal (dorsal) visual stream, the major cortical recipient of input from the M pathway, is detrimentally affected in FXS.
A third experiment examines the extent to which the M pathway deficit impacts on cortical visual functioning by employing stimuli of varying complexity that probe the parietal (dorsal) and temporal (ventral) visual streams separately. Results suggest that FXS affected individuals have a pervasive deficit in their ability to detect both simple and more complex forms of motion. In contrast, these same individuals have normal detection thresholds for simple form stimuli. However, with more complex form stimuli affected individuals have significant elevations in threshold. Taken together these results support the notion that the M pathway deficit is amplified at higher levels of visual processing and further, that FXS affected individuals have difficulties integrating all early visual information.
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Sabaratnam, Mangayatkarasy. "The fragile-X syndrome in a selected population." Thesis, Queen Mary, University of London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.309234.

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Siomi, Mikiko. "Characterization of the fragile X syndrome gene products." Kyoto University, 1994. http://hdl.handle.net/2433/160849.

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本文データは平成22年度国立国会図書館の学位論文(博士)のデジタル化実施により作成された画像ファイルを基にpdf変換したものである
Kyoto University (京都大学)
0048
新制・論文博士
博士(農学)
乙第8739号
論農博第1951号
新制||農||691(附属図書館)
学位論文||H6||N2760(農学部図書室)
UT51-94-Z490
(主査)教授 小田 順一, 教授 左右 田健次, 教授 駒野 徹
学位規則第4条第2項該当
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Aloisi, Elisabetta. "Involvement of mGluR5/Homer crosstalk disruption in the pathophysiology of Fragile X Syndrome." Thesis, Bordeaux, 2015. http://www.theses.fr/2015BORD0006/document.

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Le Syndrome de l'X Fragile (FXS) est la forme héréditaire majoritaire dedéficience intellectuelle et la cause monogénique de l'autisme. Le FXS est causé par unemutation du gène Fragile X Mental Retardation 1 (Fmr1), qui entraîne son inactivationet l'absence d’expression de la protéine codée: Fragile X Mental Retardation Protein(FMRP). FMRP est une protéine de liaison à l’ARN, impliquée dans la régulation de lasynthèse protéiques à la synapse. Un rôle central est attribué au sous-type 5 desrécepteurs métabotropiques au glutamate du groupe I (mGluR5) dans laphysiopathologie du FXS. En effet, une réponse exagérée suite à l'activation de mGluR5pourrait expliquer le dysfonctionnement synaptique dans ce syndrôme. Bien que denombreux travaux aient mis l'accent sur la dérégulation de la synthèse des protéinessynaptiques comme une conséquence de cette signalisation accrue du mGluR5, il y aaussi un équilibre altéré dans l'association de mGluR5 avec les différentes isoformes desprotéines Homer, partenaires de densité post-synaptique (PSD) du mGluR5. Bien qu'uneabondante littérature décrit l'association mGluR5/Homer, les conséquences de laperturbation de cette interaction dans le contexte du FXS sont peu connues. Parconséquent, l'objectif de ma thèse était d'étudier les conséquences de la perturbation del’interaction mGluR5/Homer au niveau des propriétés et des fonctions de mGluR5, tellesque l'expression durant le développement, l'expression de surface et le ciblageaxonal/dendritique, l’internalisation déclenchée par l'agoniste, les dynamiques desurface, et la modulation des courants NMDAR induite par mGluR5.Dans un premier temps, nous avons étudié l’expression de surface de mGluR5dans des neurones hippocampiques in vitro issus de souris sauvages et Fmr1 KO, par destechniques d’immunofluorescence et de biotinylation. Nous avons constaté que mGluR5est plus exprimé à la surface neuronale et est différemment distribué dans les dendrites etles axones des neurones Fmr1 KO. Puis, nous avons démontré que cette altérationd’expression et de ciblage est une conséquence directe de l’altération de l’interactionmGluR5/Homer. Nous avons aussi observé que mGluR5, indépendamment del’altération de l’interaction mGluR5/Homer, ne subit pas d’internalisation suite sonactivation soutenue par DHPG dans les neurones Fmr1 KO.Dans la seconde partie de mon étude, nous avons étudié les conséquences de laperturbation de l’interaction mGluR5/Homer dans les dynamiques de surface de mGluR5et par conséquent pour la fonction du NMDAR dans les neurones Fmr1 KO. Par destechniques d'imagerie et de pistage moléculaire, nous avons constaté que l’altération ducomplexe mGluR5/Homer augmente spécifiquement la diffusion latérale à la synapsedes neurones hippocampiques Fmr1 KO in vitro.La mobilité élevée du mGluR5 conduit à une probabilité accrue d'une interactionphysique transitoire avec NMDAR dans la PSD du Fmr1 KO.Cette interaction altère la modulation, induite par mGluR5, des courantsNMDAR. En effet, en utilisant des enregistrements en patch-clamp de neuronespyramidaux de CA1 sur tranches couplés à la stimulation des fibres collatérales deSchaffer, nous avons constaté que les courants excitateurs post-synaptiques induits parNMDAR (NMDAR-EPSCs) présentent des amplitudes plus faibles dans les neuronesFmr1 KO. De plus, l'expression post-synaptique de mGluR5, induite par la dépression àlong-terme de NMDAR-EPSCs est réduite dans les neurones Fmr1 KO. Finalement,nous avons démontré que ces défauts des courants NMDAR sont dépendants de laperturbation de l’interaction mGluR5/Homer et altèrent les dynamiques de mGluR5.Cette étude pourrait avoir des conséquences dans le traitement desdysfonctionnements synaptiques du mGluR5 dans le FXS, en ciblant l’interactionmGluR5/Homer, et offre de nouvelles suggestions pour corriger la signalisationdéfectueuse sous-jacente aux troubles du spectre autistique
Fragile X Syndrome (FXS) is the most common inherited form of intellectualdisability and autism. FXS is caused by a mutation in the fragile X mental retardation 1(Fmr1) gene which leads to the lack of the encoded FMRP protein. FMRP is an RNAbinding protein involved in protein synthesis regulation at synapses. Many evidencessuggest a central role of the Group-I metabotropic glutamate receptor subtype 5(mGluR5) in the FXS pathophysiology. In particular, an exaggerated signaling responsefollowing mGluR5 activation may underlie synaptic dysfunction in this disorder.Although much work has focused on the dysregulation of synaptic protein synthesis as aconsequence of this enhanced mGluR5 signaling, it becomes clear that in FXS there isalso an altered balance of mGluR5 association with Homer scaffolding proteins, whichare postsynaptic density (PSD) partners of mGluR5. Although an extensive literaturedescribes the mGluR5/Homer association, very little is known about the consequences ofthe disruption of this interaction in the FXS context. Therefore, the goal of my thesis wasto study the consequences of mGluR5/Homer crosstalk disruption in the Fmr1 knockout(KO) mouse model of FXS in terms of properties and functions of mGluR5, such asexpression during development, surface expression and axonal/dendritic targeting,agonist-induced internalization, surface dynamics and mGluR5-mediated modulation ofNMDA receptor (NMDAR) currents.In a first set of experiments we investigated the mGluR5 surface expression incultured hippocampal neurons from WT and Fmr1 KO mice by usingimmunofluorescence techniques and biotinylation assay. We found that mGluR5 wasmore expressed on the neuronal surface and was differently distributed in dendrites andaxons of Fmr1 KO cultured neurons. We then hypothesized that these alterations were adirect consequence of the mGluR5/Homer crosstalk disruption. We demonstrated thatthe altered expression and targeting of mGluR5 were critically dependent onmGluR5/Homer crosstalk disruption. We also observed that mGluR5 did not undergointernalization upon sustained mGluR5 activation with DHPG in Fmr1 KO neurons.This latter phenotype, however, was not dependent on the disruption of themGluR5/Homer crosstalk. Altogether, these results demonstrate that mGluR5/Homercrosstalk disruption contributes to the pathophysiology of FXS altering expression andtargeting of mGluR5 on the surface of Fmr1 KO neurons.In the second part of my study we investigated the consequences of the disruptedmGluR5/Homer crosstalk for the mGluR5 surface dynamics, and consequently forNMDAR function in Fmr1 KO neurons. Using a combination of live-cell imaging andsingle-molecule tracking, we found that mGluR5/Homer crosstalk disruption specificallyincreased the mGluR5 lateral diffusion at the synapse of cultured Fmr1 KO hippocampalneurons. The higher mGluR5 mobility resulted in an increased probability of transientphysical interaction with NMDAR in the PSD of Fmr1 KO. This interaction altered themGluR5-mediated modulation of NMDAR currents as evidenced by the two followingchanges. First, using patch-clamp recordings from CA1 pyramidal neurons, we foundthat NMDAR-mediated excitatory postsynaptic currents (NMDAR-EPSCs) evoked bySchaffer collateral stimulation showed lower amplitudes in Fmr1 KO neurons. Second,the postsynaptic expression of mGluR5 mediated long term depression (LTD) ofNMDAR-EPSCs was reduced in Fmr1 KO neurons. Finally, we demonstrated that thesedefects in NMDA currents were strongly dependent on the mGluR5/Homer crosstalkdisruption and altered mGluR5 dynamics.Altogether, our results show that mGluR5/Homer disruption contributes to themGluR5 dysregulation in Fmr1 KO neurons. This study might have implication for thetreatment of mGluR5 synaptic dysfunctions in FXS by targeting mGluR5/Homerinteraction and provide new suggestions to correct the defective signaling underlyingcognitive impairment and autism
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Haberl, Matthias. "Studying Neuronal Connectivity in the Mouse Brain in Normal Condition and Fragile X Syndrome." Thesis, Bordeaux, 2014. http://www.theses.fr/2014BORD0480/document.

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Le but de ce travail est l'étude de la connectivité anatomique et fonctionnelle desréseaux neuronaux et le développement des nouveaux outils à cet effet. Car le dernieraspect est une préoccupation majeure de la neuroscience actuelle, nous avonsdeveloppé d'abord un nouveau traceur virale permettant la reconstruction neuronale.Nous avons ensuite appliqué cet et d'autres techniques pour sonder les défauts deconnectivité neuronale dans le syndrome de l'X fragile.Dans la première partie, nous avons discuté les avantages et inconvénients d'unetechnique émergente en utilisant un nouveau type de vecteur viral qui permet uneunique application pour l’étude du cerveau.Dans la deuxième partie, nous avons développé, au départ de ce vecteur viral, unenouvelle variante de faciliter le traçage et reconstruction des caractéristiquesmorphologiques de neurones. Nous avons montré la force de cette varianteantérograde du virus de la rage recombinant glycoprotéine supprimé pour lareconstruction de calcul de toutes les caractéristiques morphologiques clés deneurones: les dendrites, épines, les axones longs envergure dans tous les terminaux ducerveau et les boutons.Dans la troisième partie, nous avons examiné les modifications dans la connectivitédes structures cérébrales dans le syndrome du X fragile (FXS). FXS est le retardmental héréditaire la plus fréquente et la forme génétique la plus fréquente del'autisme, ce qui conduit à l'apprentissage et de la mémoire des déficits, lescomportements répétitifs, des convulsions et une hypersensibilité à des stimulisensoriels (visuels). Une des hypothèses éminents dans le domaine de l'autismesuppose une phénotype de hyper-connectivité locale mais de hypo-connectivité pourles connexions longue portée. Pour tester cette hypothèse dans un modèle de sourisFXS nous avons utilisé l'imagerie par résonance magnétique, pour balayer la totalitédu cerveau et de mesurer la connectivité anatomique et fonctionnel. Cela nous apermis d'identifier des altérations de connectivité dans plusieurs domains. Après nous8avons utilisé des traceurs viraux pour explorer un de ceux domains plus detaillé. Enutilisant le virus de la rage rétrograde à quantifier le nombre de neurones projetantvers ces zones, nous avons confirmé une connectivité d'entrée modifié pour le cortexvisuel primaire, ce qui pourrait contribuer au traitement visuel altéré de l'information.Nous avons découvert une connectivité réduite à longue portée globale anatomique etfonctionnelle entre plusieurs régions du cerveau, l'identification FXS comme unepathologie de la connectivité neuronale, ce qui pourrait expliquer les difficultés deplusieurs stratégies de sauvetage visant des cibles moléculaires sont actuellementconfrontés
The goal of this work was the investigation of the anatomical and functionalconnectivity of neuronal networks and the development of novel tools for thispurpose. Since the latter aspect is a major focus of current neuroscience, we firstsought a novel viral tracer enabling sparse neuronal reconstruction and neuronclassification. We then applied this and other techniques to probe neuronalconnectivity defects in Fragile X Syndrome.In the first part we discussed the merits and drawbacks of a emergingtechnique using a new type of viral vector that allows in a unique manner mapping ofthe input of a given brain area.In the second part we developed, departing from this viral vector, a newvariant to facilitate the tracing and reconstructing of morphologic features of neurons.We showed the strength of this anterograde variant of the recombinant glycoproteindeletedrabies virus for computational reconstruction of all key morphologicalfeatures of neurons: dendrites, spines, long-ranging axons throughout the brain andbouton terminals.In the third part we examined alterations in the wiring of brain structures inthe Fragile X Syndrome (FXS). FXS is the most common inherited mental retardationand most frequent genetic form of autism, leading to learning and memory deficits,repetitive behavior, seizures and hypersensitivity to sensory (e.g. visual) stimuli. Oneof the eminent hypotheses in the autism field assumes a local hyper- connectivityphenotype but hypo-connectivity for long-ranging connections. To test this hypothesisin a FXS mouse model we used magnetic resonance imaging, to scan the entire brainand measure the anatomical and functional connectivity. This allowed us to identifyconnectivity alterations in several areas that we further explored using viral tracers.Using retrograde rabies virus to count the number of neurons projecting to such areaswe confirmed an altered input connectivity to the primary visual cortex, which couldcontribute to the altered visual information processing. We discovered an overallreduced anatomical and functional long-range connectivity between several brainareas, identifying FXS as pathology of neuronal connectivity, which might explain thedifficulties several rescue strategies aiming at molecular targets are currently facing
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Books on the topic "Fragile X syndrome"

1

1949-, Hagerman Randi Jenssen, and Cronister Amy 1957-, eds. Fragile X syndrome: Diagnosis, treatment, and research. 2nd ed. Baltimore: Johns Hopkins University Press, 1996.

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Ben-Yosef, Dalit, and Yoav Mayshar, eds. Fragile-X Syndrome. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1.

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Ju, Sung Ying, and Denman Robert B, eds. The molecular basis of fragile X syndrome. Kerala, India: Research Signpost, 2005.

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Denman, Robert B., ed. Modeling Fragile X Syndrome. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-21649-7.

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E, Davies K., ed. The Fragile X syndrome. Oxford: Oxford University Press, 1989.

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Braden, Marcia L. Fragile: Handle with care : understanding fragile X syndrome. Chapel Hill, N.C: Avanta Pub. Co., 1996.

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National Institutes of Health (U.S.), ed. Families and fragile X syndrome. [Bethesda, MD]: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, 2003.

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Saunders, Suzanne. Fragile X syndrome: A review of literature. Oxford: Westminster College, Centre for the Study of Special Education, 1996.

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National Institute of Child Health and Human Development (U.S.) and National Institutes of Health (U.S.), eds. Facts about fragile X syndrome. [Washington, D.C.?]: National Institutes of Child Health and Human Development, 1996.

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National Institute of Child Health and Human Development (U.S.) and National Institutes of Health (U.S.), eds. Facts about fragile X syndrome. [Washington, D.C.?]: National Institutes of Child Health and Human Development, 1996.

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Book chapters on the topic "Fragile X syndrome"

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Reches, Adi. "Fragile X Syndrome: Introduction." In Fragile-X Syndrome, 3–10. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_1.

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Vertkin, Irena, and Dalit Ben-Yosef. "Imaging of Somatic Ca2+ Transients in Differentiated Human Neurons." In Fragile-X Syndrome, 123–29. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_10.

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Telias, Michael, and Menahem Segal. "Patch-Clamp Recordings from Human Embryonic Stem Cells-Derived Fragile X Neurons." In Fragile-X Syndrome, 131–39. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_11.

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Kong, Ha Eun, Junghwa Lim, and Peng Jin. "Application of Drosophila Model Toward Understanding the Molecular Basis of Fragile X Syndrome." In Fragile-X Syndrome, 141–53. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_12.

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Telias, Michael. "Fragile X Syndrome Pre-Clinical Research: Comparing Mouse- and Human-Based Models." In Fragile-X Syndrome, 155–62. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_13.

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Elizur, Shai E., Moran Friedman Gohas, Olga Dratviman-Storobinsky, and Yoram Cohen. "Pathophysiology Mechanisms in Fragile-X Primary Ovarian Insufficiency." In Fragile-X Syndrome, 165–71. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_14.

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Zafarullah, Marwa, and Flora Tassone. "Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)." In Fragile-X Syndrome, 173–89. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_15.

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Cai, Xiaoqiang, Mohammad Arif, Haolei Wan, Ruth Kornreich, and Lisa J. Edelmann. "Clinical Genetic Testing for Fragile X Syndrome by Polymerase Chain Reaction Amplification and Southern Blot Analyses." In Fragile-X Syndrome, 11–27. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_2.

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Epsztejn-Litman, Silvina, and Rachel Eiges. "Monitoring for Epigenetic Modifications at the FMR1 Locus." In Fragile-X Syndrome, 29–48. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_3.

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Hayward, Bruce E., and Karen Usdin. "Assays for Determining Repeat Number, Methylation Status, and AGG Interruptions in the Fragile X-Related Disorders." In Fragile-X Syndrome, 49–59. New York, NY: Springer New York, 2019. http://dx.doi.org/10.1007/978-1-4939-9080-1_4.

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Conference papers on the topic "Fragile X syndrome"

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Silva, Bruno Custódio, Gisele Delazeri, Ana Luíza Kolling Konopka, Giulia Righetti Tuppini Vargas, Paulo Ricardo Gazzola Zen, and Rafael Fabiano Machado Rosa. "Report of a family affected by fragile X syndrome and type 1 diabetes mellitus." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.076.

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Context: The fragile X syndrome is characterized by intellectual deficit and some physical characteristics, which become more evident during growth, especially craniofacial and macroorchidism. Case report: A 22 year-old male patient with diabetes mellitus type 1 (DM1) diagnosed at 7 years of age is following-up with ophthalmology due to low visual acuity. On physical exam, he did not maintain eye contact and performed repetitive movements. In addition, he had an elongated face and upward slanting eyelid clefts, a high palate and prognathism, large and prominent ears. In the family history, 3 of his siblings, one male and two female, also had intellectual deficit, and two of them had concomitant DM1. One brother had only DM1 and the other none of the diseases. The parents had consanguinity (they were cousins in the 3rd degree). The patient’s karyotype, using the chromosomal breaks technique after cultivation in medium-low folic acid, showed the presence of fragility on the X chromosome in the region q27.3 [46, XY, fra (x) (q27.3)], compatible with the diagnosis of fragile X syndrome. This result was confirmed using the PCR-multiplex technique. Conclusions: In this family, the concomitant presence in several individuals of the fragile X syndrome and DM1 stands out. However, although both conditions are not related, they are frequent, which could justify their simultaneous occurrence.
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Brown, Collis, Sonya Sobrian, and Tamaro Hudson. "Therapeutic Efficacy of Macamides on Fragile X Tremor/Ataxia Syndrome (FXT/AS)." In ASPET 2023 Annual Meeting Abstracts. American Society for Pharmacology and Experimental Therapeutics, 2023. http://dx.doi.org/10.1124/jpet.122.201750.

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Kwon, Hyunwoo. "Construction of transgenic cell line for production of a canine model of Fragile X Syndrome." In 2021 IEEE 3rd Global Conference on Life Sciences and Technologies (LifeTech). IEEE, 2021. http://dx.doi.org/10.1109/lifetech52111.2021.9391947.

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Kazanci, Serdar, Elizabeth Berry-Kravis, and Deborah Hall. "Fragile-X-associated Tremor/Ataxia Syndrome in a Woman with Full Mutation: A Case Report (P5-11.009)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000203531.

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Tyagi, Richa, Tanishka S. Saraf, and Clinton E. Canal. "The serotonergic psychedelicN,N-Dipropyltryptamine prevents seizures in a mouse model of fragile X syndrome via an apparent non-serotonergic mechanism." In ASPET 2023 Annual Meeting Abstracts. American Society for Pharmacology and Experimental Therapeutics, 2023. http://dx.doi.org/10.1124/jpet.122.145310.

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Reports on the topic "Fragile X syndrome"

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Larson, John R. Cellular Basis for Learning Impairment in Fragile X Syndrome. Fort Belvoir, VA: Defense Technical Information Center, August 2014. http://dx.doi.org/10.21236/ada613717.

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Hagerman, Randi. Treatment of Fragile X Syndrome with a Neuroactive Steroid. Fort Belvoir, VA: Defense Technical Information Center, August 2014. http://dx.doi.org/10.21236/ada613986.

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Hagerman, Randi. Treatment of Fragile X Syndrome with a Neuroactive Steroid. Fort Belvoir, VA: Defense Technical Information Center, August 2012. http://dx.doi.org/10.21236/ada580938.

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Larson, John R. Cellular Basis for Learning Impairment in Fragile X Syndrome. Fort Belvoir, VA: Defense Technical Information Center, August 2013. http://dx.doi.org/10.21236/ada586251.

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Hagerman, Randi. Treatment of Fragile X Syndrome with a Neuroactive Steroid. Fort Belvoir, VA: Defense Technical Information Center, August 2013. http://dx.doi.org/10.21236/ada592346.

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Perlmutter, David H. Pharmacological and Nonpharmacological Methods of Treatment for Fragile X Syndrome. Fort Belvoir, VA: Defense Technical Information Center, February 2004. http://dx.doi.org/10.21236/ada426093.

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Perlmutter, David H. Pharmacological and Nonpharmacological Methods of Treatment for Fragile X Syndrome. Fort Belvoir, VA: Defense Technical Information Center, February 2005. http://dx.doi.org/10.21236/ada434383.

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Cline, Hollis T. Developing Xenopus Laevis as a Model to Screen Drugs for Fragile X Syndrome. Fort Belvoir, VA: Defense Technical Information Center, June 2014. http://dx.doi.org/10.21236/ada608963.

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Cline, Hollis T. Developing Xenopus Laevis as a Model to Screen Drugs for Fragile X Syndrome. Fort Belvoir, VA: Defense Technical Information Center, October 2013. http://dx.doi.org/10.21236/ada598718.

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Hagerman, Paul J., and Isaac N. Pessah. Targeted Upregulation of FMRP Expression as an Approach to the Treatment of Fragile X Syndrome. Fort Belvoir, VA: Defense Technical Information Center, August 2014. http://dx.doi.org/10.21236/ada608931.

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