Results 31 to 40 of about 7,289,232 (294)

Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
doaj   +1 more source

Decoding Biomolecular Phase Separation: From Physiological Roles to Pathological Mechanisms and Therapeutic Biomaterials Design

Advanced Science, EarlyView.
This review systematically elaborates on the mechanisms underlying physiological regulation and pathological dysregulation of biomolecular phase separation. It also summarizes advances in phase‑separation‑targeted therapeutic strategies and the design of functional biomaterials inspired by this process.
Jiawei Zhu, Jingbo Dong, Qiufang Gong, Xuejiao Song, Zhifa Shen, Chao Liang   +5 more
wiley   +1 more source

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family

Frontiers in Genetics, 2023
Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP ...
Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye   +7 more
doaj   +1 more source

Mitochondrial Quality Control in Degenerative Musculoskeletal Diseases: Signaling Networks and Therapeutic Landscapes

Advanced Science, EarlyView.
Mitochondrial quality control (MQC) collapse redefines osteoarthritis, intervertebral disc degeneration, and osteoporosis as disorders of organelle dysfunction. Damaged mitochondria leak mtDNA and metabolites, driving cGAS‐STING inflammation, epigenetic reprogramming, and metabolic memory.
Haiyang Gao, Zhangrong Cheng, Xianglong Chen, Wenbo Wu, Wang Wu, Zimu Yu, Cao Yang, Yukun Zhang   +7 more
wiley   +1 more source

THE FRAGILE X SYNDROME

International Journal of Clinical Practice, 1994
SUMMARYThe contributions of fragile X syndrome to mental retardation have been underestimated. It is the most common form of familial mental retardation and one of the most common genetic diseases. Its long‐term burden upon families and services is considerable.
openaire   +2 more sources

Molecular Biomarkers in Fragile X Syndrome

Brain Sciences, 2019
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability (ID) and a known monogenic cause of autism spectrum disorder (ASD).
Marwa Zafarullah, Flora Tassone
doaj   +1 more source

FRA2A is a CGG repeat expansion associated with silencing of AFF3 [PDF]

, 2014
Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID).
Douglas, Evelyn, Metsu Sofie, Reyniers Edwin, Liesbeth Rooms (555530), Chandra Sekhar Reddy Chilamakuri, Martin S. Taylor (257588), Rainger, J., Wilson, David I., Wilson, D., Gecz, J., David R Fitzpatrick, Taylor, Martin S; id_orcid, Kooy, R., David I. Wilson, Kooy, R. Frank, Harris Morrison, Geert Vandeweyer (555532), Thompson Geoffrey, Wilson David I., Evelyn Douglas, Kooy, R Frank, FitzPatrick, D., David R. FitzPatrick (215024), Chilamakuri Chandra Sekhar Reddy, Vandeweyer, Geert, Bengani Hemant, R Frank Kooy, FitzPatrick David R., Eric Haan, R. Frank Kooy, Gecz Jozef, Eric Haan (62063), Jozef Gecz (9483), Edwin Reyniers, Gecz, Jozef, Harris Morrison (34143), Geoffrey Thompson (555535), Thompson, Geoffrey, Vandeweyer, G., Reyniers, Edwin, Haan, E., Rooms Liesbeth, Rooms, Liesbeth, Fitzpatrick, David R, Metsu, Sofie, FitzPatrick, David R., Geert Vandeweyer, Morrison Harris, Jozef Gecz, Taylor Martin S., Taylor, Martin S., Jacqueline Rainger, R. Frank Kooy (555536), Chandra Sekhar Reddy Chilamakuri (523131), Martin S. Taylor, Metsu, S., Evelyn Douglas (555534), Hemant Bengani, Rainger Jacqueline, Bengani, Hemant, Liesbeth Rooms, David R. FitzPatrick, Hemant Bengani (425074), Sofie Metsu (555529), Morrison, Harris, Chilamakuri, C., Kooy R. Frank, Taylor, M., Reyniers, E., Rainger, Jacqueline, Bengani, H., Rooms, L., Thompson, G., Haan Eric, Wilson, David I, David I. Wilson (164352), Martin S Taylor, Haan, Eric, Chilamakuri, Chandra Sekhar Reddy, David I Wilson, Douglas, E., Jacqueline Rainger (555531), Vandeweyer Geert, Edwin Reyniers (555533), Geoffrey Thompson, Sofie Metsu, Douglas Evelyn, Morrison, H., et al.   +88 more
core   +1 more source

Arhgef1 Deletion Disrupts Early Cortical Neurogenesis via PAK1 Overactivation and Causes Motor Dysfunction in Adulthood

Advanced Science, EarlyView.
ARHGEF1 plays a pivotal role in both embryonic cortical neurogenesis and adult motor function. During early development, it governs genesis of deep‐layer cortical neurons by negatively regulating RAC1/CDC42‐PAK1‐Cofilin signaling. In adulthood, ARHGEF1 is important for the maintenance of neuronal morphology and activity in the motor cortex, ensuring ...
Liuren Li, Xuanyue Ma, Zhenyu Ding, Bang Sun, Linglin Liu, Hei Matthew Yip, Wei Wang, Tianying Wu, Yuan Guo, Yinghui Peng, Shiqing Zhang, Jacque Pak Kan Ip, Li Zhang, Keshen Li, Lei Shi   +14 more
wiley   +1 more source

Establishment of an induced pluripotent stem cell line (ICGi026-A) from peripheral blood mononuclear cells of a patient with fragile X syndrome

Stem Cell Research, 2020
Expansion over 200 CGG repeats in FMR1 gene causes inherited intellectual disability or autism spectrum disorder named as fragile X syndrome. Despite the known cause fragile X syndrome pathogenesis has not been specified yet. The ICGi026-A iPSCs line was
M.M. Gridina, P.A. Orlova, J.M. Minina, E.M. Shitik, N.A. Lemskaya, I.V. Grishchenko, A.A. Dolskiy, A.R. Shorina, Y.V. Maksimova, D.V. Yudkin, O.L. Serov   +10 more
doaj   +1 more source

Spontaneous Coronary Artery Dissection in a female patient with fragile X syndrome [PDF]

Kosin Medical Journal, 2017
We report a case of Spontaneous coronary artery dissection associated with fragile X syndrome. The relationship between fragile X syndrome and Spontaneous coronary artery dissection is unclear.
Hyun-Young Park, Jin-Man Cho, Dong-Hee Kim, Chang-Bum Park, Chong-Jin Kim   +4 more
doaj   +1 more source