Results 101 to 110 of about 7,199,374 (204)

Enhanced expression of ADCY1 underlies aberrant neuronal signalling and behaviour in a syndromic autism model

Nature Communications, 2017
Fragile X syndrome (FXS) is a leading cause of autism and neurons lacking FMRP show aberrant mRNA translation and intracellular signalling. Here, the authors show that neurons from Fmr1 knockout mice have increased levels of ADCY1 protein, producing ...
Ferzin Sethna, Wei Feng, Qi Ding, Alfred J. Robison, Yue Feng, Hongbing Wang   +5 more
doaj   +1 more source

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments

Molecular Autism, 2010
Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1), leading to deficiency or absence of the FMR1 protein (FMRP).
Hagerman Randi, Hoem Gry, Hagerman Paul
doaj   +1 more source

Pilot Evaluation of the Biopsychosocial Screening Inventory for Fragile X Syndrome (BIPSSI-FX) with an Extended African American Family.

Journal of theory construction & testing, 2012
This study examined the internal consistency, test-retest reliability, and concurrent validity of a parent-screening tool for Fragile X Syndrome (FXS). A mixed methods design guided this investigation of African American primary caregivers and children.
Powell-Young, Yolanda M., Sherman, Stephanie, Brossman, Bradley, Johnson, Vanessa   +3 more
openaire   +1 more source

Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.

PLoS ONE, 2011
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. In addition to cognitive deficits, FXS patients exhibit hyperactivity, attention deficits, social difficulties, anxiety, and other autistic-like behaviors.
Steven D Sheridan, Kraig M Theriault, Surya A Reis, Fen Zhou, Jon M Madison, Laurence Daheron, Jeanne F Loring, Stephen J Haggarty   +7 more
doaj   +1 more source

Reversal of fragile X phenotypes by manipulation of AβPP/Aβ levels in Fmr1KO mice.

PLoS ONE, 2011
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading known genetic cause of autism. Fragile X mental retardation protein (FMRP), which is absent or expressed at substantially reduced levels in FXS, binds ...
Cara J Westmark, Pamela R Westmark, Kenneth J O'Riordan, Brian C Ray, Crystal M Hervey, M Shahriar Salamat, Sara H Abozeid, Kelsey M Stein, Levi A Stodola, Michael Tranfaglia, Corinna Burger, Elizabeth M Berry-Kravis, James S Malter   +12 more
doaj   +1 more source

Sex Differences in an Fmr1 Knock-out Mouse Model of Fragile X Syndrome

, 2020
Possessing a single X-chromosome, fragile X syndrome (FXS) occurs more frequently in males than females, and FXS males typically have more severe clinical symptoms than FXS females.
Tanishka Saraf, Clinton Canal, Yiming Chen, Jessica Armstrong   +3 more
core  

Autism Symptoms in Fragile X Syndrome

, 2017
Fragile X syndrome (FXS) is recognized as the most common genetic cause of intellectual disability and autism spectrum disorder (ASD). Although symptoms of ASD are frequently observed in patients with FXS, researchers have not yet clearly determined ...
Randi J. Hagerman, Junbao Du, Dy, Angel Belle C, Hagerman, Randi J, Manman Niu, Jing Zhang, Li, Qinrui, Jin, Hongfang, Niu, Manman, Zhang, Jing, Han, Ying, Qinrui Li, Angel Belle C. Dy, Hongfang Jin, Jiong Qin, Ying Han, Du, Junbao, Qin, Jiong   +17 more
core   +1 more source

Fenótipos em portadoras brasileiras da pré-mutação da síndrome do X-Frágil [PDF]

, 2012
TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.A Síndrome do X-Frágil (SXF) é a forma mais comum de deficiência intelectual herdada.
Andrade, Daiane de
core  

Clinical Characteristics of Fragile X Syndrome Patients in Japan [PDF]

[Background] Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS ...
16693, ハセガワ, タケシ, 16697, 16696, 28, 16695, 80252849, 16694, 30465299, 2573, Adachi, Kaori, 足立, 香織, オカザキ, テツヤ, Okazaki, Tetsuya, Nose, Madoka, Abe, Toshiaki, Maihara, Toshiro, 100000249, 40237631, 2906, 16699, 16698, 難波, 栄二, Hasegawa, Takeshi, ナンバ, エイジ, Oyama, Yoshitaka, Matsuura, Kaori, アダチ, カオリ, 岡崎, 哲也, 1921, 100001229, 16700, 100000735, Shirahata, Emi, 50609237, 前垣, マエガキ, ヨシヒロ, Maegaki, Yoshihiro, Namba, Eiji, 100000739   +39 more
core   +1 more source

Cross‐syndrome comparison of psychopathological risk factors in Williams syndrome, fragile X syndrome and Prader–Willi syndrome

, 2018
Background: Psychopathology is highly prevalent in adolescents and adults with several genetic syndromes associated with intellectual disability, including Williams syndrome (WS), fragile X syndrome (FXS) and Prader–Willi syndrome (PWS).
Armitage, P, Oliver, C, Waite, J, Howlin, P, Dosse, A, Moss, J, Royston, R   +6 more
core   +1 more source