Results 41 to 50 of about 2,751,167 (169)

FMR1 gene and fragile X syndrome

, 2000
Taxonomic features of fragile X syndrome (FXS) associated with the fragile X mutation have evolved over several decades. Males are more severely impacted cognitively than females, but both show declines in IQ scores as they age.
Mandel, Jean-Louis, Fisch, Gene S., Bardoni, Barbara   +2 more
core   +1 more source

Comparative Behavioral Phenotypes of Fmr1 KO, Fxr2 Het, and Fmr1 KO/Fxr2 Het Mice

Brain Sciences, 2019
Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene leading to loss of the protein product fragile X mental retardation protein (FMRP). FXS is the most common monogenic cause of intellectual disability. There are two known mammalian paralogs
Rachel Michelle Saré, Christopher Figueroa, Abigail Lemons, Inna Loutaev, Carolyn Beebe Smith   +4 more
doaj   +1 more source

FMR1 RNA interaction with DNMT1 blocks DNA methylation at the FMR1 locus [PDF]

In the FMR1 gene, expansion of the CGG triplet beyond 200 repeats triggers DNA methylation, resulting in the Fragile X Syndrome (FXS). There exist rare individuals who carry a CGG expansion >200 that remains unmethylated, rescuing them from expressing ...
Neri, Giovanni, Dello Russo, Cinzia, Chiurazzi, Pietro, Modafferi, Clarissa, D'Ascenzo, Marcello, Bianchetti, Giada, Niccolini, Benedetta, Tabolacci, Elisabetta, Maulucci, Giuseppe, Cappoli, Natalia, Genuardi, Maurizio, D\u2019Ascenzo, Marcello, Pucci, Cecilia, Esposito, Carla Lucia, Pietrobono, Roberta, Aceto, Giuseppe, Di Ruscio, Annalisa, Nobile, Veronica   +17 more
core   +1 more source

Metabolic Alterations in FMR1 Premutation Carriers

Frontiers in Molecular Biosciences, 2020
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
doaj   +1 more source

Fetal Cells in Maternal Blood for Noninvasive Prenatal Testing—Is it Still a Distant Star?

Prenatal Diagnosis, EarlyView.
ABSTRACT Accurate and safe prenatal diagnosis of severe genetic disorders remains challenging despite advances in genomic technologies and increased use of cell‐free noninvasive prenatal testing (cfNIPT). Currently, approximately half of pathogenic copy number variants (pCNVs) and most monogenic disorders are identified only postnatally.
Ripudaman Singh, Katarina Ravn, Line Dahl Jeppesen, Maria Bach Laursen, Maibritt Nøgaard Lauridsen, Mathias Kølvraa, Marlene Christina Nielsen, Bolette Hestbek Nicolaisen, Inga Baach Cristensen, Morten Muhlig Nielsen, Britt Kidmose Ardal, Lars Henning Pedersen, Mads Tang Dalsgaard, Ida Vogel, Lotte Hatt   +14 more
wiley   +1 more source

RELATIONSHIP BETWEEN FMRP EXPRESSION IN CELL FROM HAIR ROOTS AND BLOOD SMEARS WITH COGNITIVE FUNCTIONING IN FRAGILE X FULL MUTATION FEMALE [PDF]

, 2009
Introduction: Fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the (CGG) repeat in the FMR1 gene located on X chromosome.
Rujito, Lantip
core   +1 more source

Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression.

PLoS ONE
Fragile X Syndrome (FXS) is a genetic disorder caused by increased CGG repeats in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene which encodes an RNA-binding protein that can alter mRNA processing, translation and stability. Among the effects of
Xiaoning Zhao, Jianchang Zhou, Kuang-Yuh Chyu, Ebru Erbay, Bojan Cercek, Prediman K Shah, Paul C Dimayuga   +6 more
doaj   +1 more source

Widespread Alterations in Translation Elongation in the Brain of Juvenile Fmr1 Knockout Mice

Cell Reports, 2019
Summary: FMRP (fragile X mental retardation protein) is a polysome-associated RNA-binding protein encoded by Fmr1 that is lost in fragile X syndrome. Increasing evidence suggests that FMRP regulates both translation initiation and elongation, but the ...
Sohani Das Sharma, Jordan B. Metz, Hongyu Li, Benjamin D. Hobson, Nicholas Hornstein, David Sulzer, Guomei Tang, Peter A. Sims   +7 more
doaj   +1 more source

Innovative 3D‐bioprinted microfibers in calcium phosphate cement platform with Nell‐1 to activate nerve‐bone axis for synergistic bone, vasculature, and nanofibrous nerve regeneration

Smart Molecules, EarlyView.
A 3D‐bioprinted platform with stem cells activates “nerve‐bone” signaling by enabling the spatiotemporal delivery of Nell‐1. This activation enhances neurovascular and bone regeneration through the CYFIP1 cascade. In rat calvarial defects, the platform doubled bone regeneration and nerve repair and tripled vascular density, resulting in superior ...
Minjia Zhu, Xinyi Li, Jingyi Li, Kan Yu, Zixiang Dai, Le Xiao, Qinrou Zhang, Zihan Jia, Qingchen Qiao, Zeqing Zhao, Ke Zhang, Yuxing Bai   +11 more
wiley   +1 more source

Avaliação de pré-mutação por PCR na síndrome do X frágil [PDF]

, 2006
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química.A presente dissertação avalia o desempenho de uma nova metodologia de análise molecular pela reação em cadeia da ...
Queiroz, Mariana Arzua de
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