Results 211 to 220 of about 5,538,805 (353)

Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations? [PDF]

, 2000
Ulrike Salat
openalex   +1 more source

Fragile X syndrome. [PDF]

Archives of Disease in Childhood, 1996
D Magnay, J Morritt, T Waterston
openaire   +3 more sources

Knowledge and perceptions about fragile X syndrome and fragile X-premutation-associated conditions among medical doctors in Nigeria. [PDF]

Clin Genet
Mbachu CNP, Hagerman R, Eseigbe E, Odita A, Mbachu I, Ilikanu S, Akowundu K, Ndukwu C, Echezona M, Okereke O, Echendu S, Udigwe I.   +11 more
europepmc   +1 more source

Genetics‐Based Targeting Strategies for Precise Neuromodulation

Advanced Science, EarlyView.
In this Review, the fundamental principles and implementation protocols of genetics‐based precision neuromodulation are first introduced. Then, wireless and low‐invasive strategies based on nano‐transducing materials are highlighted, along with a dissection and analysis of the strengths and weaknesses of representative studies.
Yuyuan He, Zhidong Wei, Jianda Xu, Fei Jin, Tong Li, Lili Qian, Juan Ma, Weiying Zheng, Negar Javanmardi, Ting Wang, Kangjian Sun, Zhang‐Qi Feng   +11 more
wiley   +1 more source

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

Pediatrics, 2017
Walter E. Kaufmann, Sharon A. Kidd, Howard F. Andrews, D. Budimirovic, A. Esler, Barbara Haas-Givler, T. Stackhouse, C. Riley, G. Peacock, Stephanie L. Sherman, W. Ted Brown, E. Berry-Kravis   +11 more
semanticscholar   +1 more source

Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome [PDF]

, 2000
Flora Tassone, Randi J. Hagerman, Annette K. Taylor, Louise W. Gane, Tony E. Godfrey, Paul J. Hagerman   +5 more
openalex   +1 more source

Olfactory dysfunction and altered cortical excitability in the mouse model of Fragile X Syndrome. [PDF]

Biol Res
Arancibia F, Rojas M, Becerra D, Fuenzalida R, Cea-Del Rio C, Mpodozis J, Sanhueza M, Nunez-Parra A.   +7 more
europepmc   +1 more source

PSMD14 Stabilizes SLC7A11 to Ameliorate Glucocorticoid‐Induced Osteoporosis by Suppressing Osteocyte Ferroptosis

Advanced Science, EarlyView.
Glucocorticoid‐induced osteoporosis (GIOP) triggers osteocyte ferroptosis via SLC7A11 degradation. PSMD14 stabilizes SLC7A11 by counteracting glucocorticoid‐driven ubiquitination, preserving cystine uptake and glutathione synthesis. AAV‐mediated PSMD14 delivery or its agonist Pantethine rescues osteocyte survival and bone loss in GIOP mice.
Yifeng Shi, Qian Tang, Sunren Sheng, Hongyi Jiang, Chen Jin, Chencheng Zhou, Chenglong Xie, Lin Zheng, Di Zhang, Hui Xu, Cong Xu, Haiwei Ma, Guangheng Xiang, Wenfei Ni, Xiaoyun Pan, Lei Yang, Huazi Xu, Yu Qian, Aimin Wu, Xiangyang Wang, Gang Zheng   +20 more
wiley   +1 more source

A father and daughter with fragile X chromosome.

, 1983
S Morić-Petrović, Z Laća
openalex  

The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins [PDF]

, 2000
Filippo Tamanini, Laura Kirkpatrick, Joris Schonkeren, Leontine van Unen, Carola Bontekoe, Conny Bakker, David L. Nelson, H. Galjaard, B. A. Oostra, A. T. Hoogeveen   +9 more
openalex   +1 more source