keyword
MENU ▼
Read by QxMD icon Read
search

FMR1

keyword
https://www.readbyqxmd.com/read/27916885/development-of-genetic-testing-for-fragile-x-syndrome-and-associated-disorders-and-estimates-of-the-prevalence-of-fmr1-expansion-mutations
#1
REVIEW
James N Macpherson, Anna Murray
The identification of a trinucleotide (CGG) expansion as the chief mechanism of mutation in Fragile X syndrome in 1991 heralded a new chapter in molecular diagnostic genetics and generated a new perspective on mutational mechanisms in human genetic disease, which rapidly became a central paradigm ("dynamic mutation") as more and more of the common hereditary neurodevelopmental disorders were ascribed to this novel class of mutation. The progressive expansion of a CGG repeat in the FMR1 gene from "premutation" to "full mutation" provided an explanation for the "Sherman paradox," just as similar expansion mechanisms in other genes explained the phenomenon of "anticipation" in their pathogenesis...
November 30, 2016: Genes
https://www.readbyqxmd.com/read/27916452/the-normal-range-of-fmr1-triple-cgg-repeats-may-be-associated-with-primary-ovarian-insufficiency-in-china
#2
Cui-Ling Lu, Rong Li, Xin-Na Chen, Yang-Ying Xu, Li-Ying Yan, Jie Yan, Yao-Yao Zhang, Hong-Yan Jin, Wen-Xin Zhang, Jie Qiao, Xiu-Mei Zhen
The aim of this study was to investigate the relationship between normal Fragile X mental retardation gene 1 (FMR1) CGG repeat numbers and primary ovarian insufficiency (POI) occurrence or subsequent resumption of ovarian function. A total of 122 women with POI and 105 controls were followed up and analysed in our centre. The prevalence of premutation and intermediate range of FMR1 CGG repeats in Han Chinese women with POI was only 0.81% (1/122) and 1.64% (2/122), respectively. The risk of POI occurrence for less than 26 CGG repeats and 29 or more CGG repeats in allele1 (smaller allele) was significantly higher than that for 26-28 CGG repeats (odds ratio 13...
November 15, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27914629/cytoplasmic-fmr1-interacting-protein-2-is-a-major-genetic-factor-underlying-binge-eating
#3
Stacey L Kirkpatrick, Lisa R Goldberg, Neema Yazdani, R Keith Babbs, Jiayi Wu, Eric R Reed, David F Jenkins, Amanda F Bolgioni, Kelsey I Landaverde, Kimberly P Luttik, Karen S Mitchell, Vivek Kumar, W Evan Johnson, Megan K Mulligan, Pietro Cottone, Camron D Bryant
BACKGROUND: Eating disorders are lethal and heritable; however, the underlying genetic factors are unknown. Binge eating is a highly heritable trait associated with eating disorders that is comorbid with mood and substance use disorders. Therefore, understanding its genetic basis will inform therapeutic development that could improve several comorbid neuropsychiatric conditions. METHODS: We assessed binge eating in closely related C57BL/6 mouse substrains and in an F2 cross to identify quantitative trait loci associated with binge eating...
October 25, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27904820/the-neurobiology-of-the-prader-willi-phenotype-of-fragile-x-syndrome
#4
REVIEW
Zukhrofi Muzar, Reymundo Lozano, Alexander Kolevzon, Randi J Hagerman
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism, caused by a CGG expansion to greater than 200 repeats in the promoter region of FMR1 on the bottom of the X chromosome. A subgroup of individuals with FXS experience hyperphagia, lack of satiation after meals and severe obesity, this subgroup is referred to have the Prader-Willi phenotype of FXS. Prader-Willi syndrome is one of the most common genetic severe obesity disorders known and it is caused by the lack of the paternal 15q11-13 region...
November 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27902989/plasma-levels-of-leptin-and-adiponectin-in-fragile-x-syndrome
#5
Małgorzata Zofia Lisik, Ewa Gutmajster, Aleksander L Sieroń
: Fragile X syndrome (FXS) is the most common form of familial mental retardation and one of the leading known causes of autism. The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene, resulting in the transcriptional silencing of the gene. Leptin may be considered a cytokine-like hormone with pleiotropic actions since it may be involved in the regulation of neuroendocrine functions and the immune system response, in addition to playing a role in development...
December 1, 2016: Neuroimmunomodulation
https://www.readbyqxmd.com/read/27883256/detecting-agg-interruptions-in-male-and-female-fmr1-premutation-carriers-by-single-molecule-sequencing
#6
Simon Ardui, Valerie Race, Alena Zablotskaya, Matthew S Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R Vermeesch
The FMR1 gene contains an unstable CGG repeat in its 5' untranslated region. Premutation alleles range between 55 and 200 repeat units and confer a risk for developing fragile X-associated tremor/ataxia syndrome or fragile X-associated primary ovarian insufficiency. Furthermore, the premutation allele often expands to a full mutation during female germline transmission giving rise to the fragile X syndrome. The risk for a premutation to expand depends mainly on the number of CGG units and the presence of AGG interruptions in the CGG repeat...
November 24, 2016: Human Mutation
https://www.readbyqxmd.com/read/27881780/negative-allosteric-modulation-of-mglur5-partially-corrects-pathophysiology-in-a-mouse-model-of-rett-syndrome
#7
Jifang Tao, Hao Wu, Amanda A Coronado, Elizabeth de Laittre, Emily K Osterweil, Yi Zhang, Mark F Bear
: Rett syndrome (RTT) is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2), an epigenetic regulator of mRNA transcription. Here, we report a test of the hypothesis of shared pathophysiology of RTT and fragile X, another monogenic cause of autism and intellectual disability. In fragile X, the loss of the mRNA translational repressor FMRP leads to exaggerated protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5). We found that mGluR5- and protein-synthesis-dependent synaptic plasticity were similarly altered in area CA1 of Mecp2 KO mice...
November 23, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27876427/fmr1-premutation-not-only-important-in-premature-ovarian-failure-but-also-in-diminished-ovarian-reserve
#8
Ali Eslami, Kamelia Farahmand, Mehdi Totonchi, Tahereh Madani, Ummulbanin Asadpour, Shabnam Zari Moradi, Hamid Gourabi, Anahita Mohseni-Meybodi
It is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but their role in diminished ovarian reserve (DOR) is not clearly established. Moreover, the impact of smaller repeats at the boundary of premutation and normal is less clear. Therefore, we have compared the frequency of these intermediate (45-54 repeats) and premutation (>55) sized FMR1 CGG repeats among a patients group including 188 DOR and 173 POF women and 200 controls. FSH and LH concentrations were also compared between intermediate and premutation ranges in patients...
November 23, 2016: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/27869718/endocrine-dysfunction-in-female-fmr1-premutation-carriers-characteristics-and-association-with-ill-health
#9
Sonya Campbell, Sarah E A Eley, Andrew G McKechanie, Andrew C Stanfield
Female FMR1 premutation carriers (PMC) have been suggested to be at greater risk of ill health, in particular endocrine dysfunction, compared to the general population. We set out to review the literature relating to endocrine dysfunction, including premature ovarian insufficiency (POI), in female PMCs, and then to consider whether endocrine dysfunction in itself may be predictive of other illnesses in female PMCs. A systematic review and pilot data from a semi-structured health questionnaire were used. Medline, Embase, and PsycInfo were searched for papers concerning PMCs and endocrine dysfunction...
November 18, 2016: Genes
https://www.readbyqxmd.com/read/27865451/astrocytic-contributions-to-synaptic-and-learning-abnormalities-in-a-mouse-model-of-fragile-x-syndrome
#10
Jennifer L Hodges, Xinzhu Yu, Anthony Gilmore, Hannah Bennett, Michelle Tjia, James F Perna, Chia-Chien Chen, Xiang Li, Ju Lu, Yi Zuo
BACKGROUND: Fragile X syndrome (FXS) is the most common type of mental retardation attributable to a single-gene mutation. It is caused by FMR1 gene silencing and the consequent loss of its protein product, fragile X mental retardation protein. Fmr1 global knockout (KO) mice recapitulate many behavioral and synaptic phenotypes associated with FXS. Abundant evidence suggests that astrocytes are important contributors to neurological diseases. This study investigates astrocytic contributions to the progression of synaptic abnormalities and learning impairments associated with FXS...
September 13, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27862088/prognostic-dilemmas-and-genetic-counseling-for-prenatally-detected-fragile-x-gene-expansions
#11
Brenda Finucane, Sharyn Lincoln, Lindsay Bailey, Christa Lese Martin
With widespread adoption of fragile X carrier screening in pregnant women, the number of expectant couples receiving news of an unanticipated Fragile X Mental Retardation 1 (FMR1) gene expansion has increased. The most common abnormal result from maternal FMR1 testing involves an intermediate allele, also known as a gray zone result, which requires genetic counseling but poses minimal risk for an adverse developmental outcome. By contrast, the finding of a maternal FMR1 pre- or full mutation during pregnancy has important implications for the woman herself, her unborn child, and her extended family...
November 11, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27852784/activity-induces-fmr1-sensitive-synaptic-capture-of-anterograde-circulating-neuropeptide-vesicles
#12
Samantha L Cavolo, Dinara Bulgari, David L Deitcher, Edwin S Levitan
: Synaptic neuropeptide and neurotrophin stores are maintained by constitutive bidirectional capture of dense-core vesicles (DCVs) as they circulate in and out of the nerve terminal. Activity increases DCV capture to rapidly replenish synaptic neuropeptide stores following release. However, it is not known whether this is due to enhanced bidirectional capture. Here experiments at the Drosophila neuromuscular junction, where DCVs contain neuropeptides and a bone morphogenic protein, show that activity-dependent replenishment of synaptic neuropeptides following release is evident after inhibiting the retrograde transport with the dynactin disruptor mycalolide B or photobleaching DCVs entering a synaptic bouton by retrograde transport...
November 16, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27827529/a-design-thinking-approach-to-primary-ovarian-insufficiency
#13
Lisa A Martin, Alison G Porter, Vincent A Pelligrini, Peter A Schnatz, Xuezhi Jiang, Nicole Kleinstreuer, Janet E Hall, Sarah Verbiest, Jill Olmstead, Ryan Fair, Alberto Falorni, Luca Persani, Aleksandar Rajkovic, Khanjan Mehta, Lawrence M Nelson
Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care. We also review the pathophysiology and management of primary ovarian insufficiency. Molecular understanding regarding the pathogenesis is essential to developing strategies for prevention, earlier diagnosis, and appropriate management of the disorder...
November 9, 2016: Panminerva Medica
https://www.readbyqxmd.com/read/27824730/sex-specific-and-genotype-specific-differences-in-vocalization-development-in-fmr1-knockout-mice
#14
Conner D Reynolds, Suzanne O Nolan, Taylor Jefferson, Joaquin N Lugo
Fragile X syndrome is a neurodevelopmental disorder caused by a trinucleotide (CGG) hyperexpansion in the FMR1 gene, functionally silencing transcription of the fragile X mental retardation protein (FMRP). This disorder is characterized by impaired cognition, communication, and social behavior. The aim of this study was to investigate the development of ultrasonic vocalization (USV) behavior in a Fmr1-deficient mouse model. On postnatal days (PD) 9-14, separate cohorts of FVB/NJ pups were removed from their homecage and isolation-induced USVs were recorded...
December 14, 2016: Neuroreport
https://www.readbyqxmd.com/read/27822316/developmental-profiles-of-infants-with-an-fmr1-premutation
#15
Anne C Wheeler, John Sideris, Randi Hagerman, Elizabeth Berry-Kravis, Flora Tassone, Donald B Bailey
BACKGROUND: Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known. METHODS: This exploratory study examined the cognitive, communication, and social-behavioral profiles of 26 infants with a premutation who were identified through participation in a newborn screening for fragile X syndrome pilot study...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27816231/distribution-of-the-fmr1-gene-in-females-by-race-ethnicity-women-with-diminished-ovarian-reserve-versus-women-with-normal-fertility-swan-study
#16
Lisa M Pastore, Steven L Young, Ani Manichaikul, Valerie L Baker, Xin Q Wang, Joel S Finkelstein
OBJECTIVE: To study whether reported, but inconsistent, associations between the FMR1 CGG repeat lengths in the intermediate, high normal, or low normal range differentiate women diagnosed with diminished ovarian reserve (DOR) from population controls and whether associations vary by race/ethnic group. DESIGN: Case-control study. SETTING: Academic and private fertility clinics. PATIENT(S): DOR cases (n = 129; 95 Whites, 22 Asian, 12 other) from five U...
November 2, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27797833/differential-adulthood-onset-mglu5-signaling-saves-prefrontal-function-in-the-fragile-x-mouse
#17
Henry G S Martin, Olivier Lassalle, Olivier J Manzoni
The final maturation of the prefrontal cortex (PFC) continues into early adulthood and is delayed compared with other forebrain structures. However, how these late onset changes in the PFC relate to neurodevelopment disorders is poorly understood. Fragile X syndrome (FXS) is a prevalent neurogenetic disorder linked to deficits in PFC function. mGlu5 is an important molecular hub in the etiology of FXS. Thus we have examined changes in mGlu5 function in the PFC in a mouse model of FXS (Fmr1 knockout) during early adulthood and subsequent maturity...
October 23, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/27784894/contraction-of-fully-expanded-fmr1-alleles-to-the-normal-range-predisposing-haplotype-or-rare-events
#18
Nuno Maia, Joana R Loureiro, Bárbara Oliveira, Isabel Marques, Rosário Santos, Paula Jorge, Sandra Martins
Fragile X syndrome (FXS), the most common cause of inherited intellectual disability, is due to the expansion over 200 CGGs and methylation of this polymorphic region, in the 5'-UTR (untranslated region) of FMR1 (Xq27.3). We have identified four FXS mosaic males: M1-(CGG)35/(CGG)>200; M2-(CGG)26/(CGG)>200; M3-(CGG)39/(CGG)>200; and M4-(CGG)18/(CGG)125/(CGG)>200. After genotyping their respective mothers, we suggested that normal alleles of these patients resulted from post-zygotic contractions of full expansions...
October 27, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27775852/cotinine-administration-improves-impaired-cognition-in-the-mouse-model-of-fragile-x-syndrome
#19
Marta Pardo, Eleonore Beurel, Richard S Jope
Cotinine is the major metabolite of nicotine and has displayed some capacity for improving cognition in mouse models following chronic administration. We tested if acute cotinine treatment is capable of improving cognition in the mouse model of Fragile X syndrome, Fmr1(-/-) knockout mice, and if this is related to inhibition by cotinine treatment of glycogen synthase kinase-3β (GSK3β), which is abnormally active in Fmr1(-/-) mice. Acute cotinine treatment increased the inhibitory serine-phosphorylation of GSK3β and the activating phosphorylation of AKT, which can mediate serine-phosphorylation of GSK3β, in both wild-type and Fmr1(-/-) mouse hippocampus...
October 24, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27775646/associated-clinical-disorders-diagnosed-by-medical-specialists-in-188-fmr1-premutation-carriers-found-in-the-last-25-years-in-the-spanish-basque-country-a-retrospective-study
#20
Sonia Merino, Nekane Ibarluzea, Hiart Maortua, Begoña Prieto, Idoia Rouco, Maria-Asunción López-Aríztegui, Maria-Isabel Tejada
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are definitely related to the fragile X mental retardation 1 (FMR1) premutation (PM). Additional medical problems have also been associated with the PM, such as fibromyalgia, endocrine, and psychiatric disorders. To improve our understanding in the field, we reviewed all PM carriers and their reasons for any medical referrals from 104 fragile X families molecularly diagnosed in our laboratory and living in the Spanish Basque Country...
October 21, 2016: Genes
keyword
keyword
25021
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"