Results 51 to 60 of about 2,751,167 (169)

FMR1 Iso-Seq: final files

, 2017
<p>seng, E., Tang, H.-T., AlOlaby, R. R., Hickey, L. & Tassone, F. Altered expression of the FMR1 splicing variants landscape in premutation carriers. <em>BBA - Gene Regulatory Mechanisms</em> <strong>1860,</strong> 1117&
Tang, Hiu-Tung, Tseng, Elizabeth (5240491), Tassone, Flora (5524544), Hickey, Luke (5524535), AlOlaby, Reem Rafik, Tang, Hiu-Tung (5524541), AlOlaby, Reem Rafik (5524538), Tseng, Elizabeth, Tassone, Flora, Hickey, Luke   +9 more
core   +1 more source

Changes in expression of the long noncoding RNA FMR4 associate with altered gene expression during differentiation of human neural precursor cells

Frontiers in Genetics, 2015
CGG repeat expansions in the Fragile X mental retardation 1 (FMR1) gene are responsible for a family of associated disorders characterized by either intellectual disability and autism (Fragile X Syndrome, FXS), or adult-onset neurodegeneration (Fragile X-
Veronica Julia Peschansky, Chiara ePastori, Zane eZeier, Dario eMotti, Katya eWentzel, Dmitry eVelmeshev, Marco eMagistri, John L Bixby, John L Bixby, John L Bixby, John L Bixby, Vance P Lemmon, Vance P Lemmon, Vance P Lemmon, José P Silva, Claes eWahlestedt   +15 more
doaj   +1 more source

Fragile X syndrome and associated disorders: Clinical aspects and pathology

Neurobiology of Disease, 2020
This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X ...
Maria Jimena Salcedo-Arellano, Brett Dufour, Yingratana McLennan, Veronica Martinez-Cerdeno, Randi Hagerman   +4 more
doaj   +1 more source

Association Between Blood Transfusion for Postpartum Haemorrhage and the Risk of Premature Ovarian Failure: A Nationwide Population‐Based Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To investigate the association between postpartum haemorrhage (PPH) severity and the subsequent risk of premature ovarian failure (POF), with blood transfusion used as a marker of severe PPH: Design Nationwide population‐based retrospective cohort study. Setting Korean National Health Insurance Service (KNHIS) database.
Min‐A Kim, Ju Hyeong Son, Hyun‐Joo Seol, Min‐Jeong Oh, Geum Joon Cho, Young‐Han Kim   +5 more
wiley   +1 more source

FMR1: A gene with three faces

, 2009
The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age.
Willemsen, R. (Rob), Oostra, B.A. (Ben), Willemsen, Rob, Oostra, Ben   +3 more
core   +1 more source

Alternative splicing in the fragile X-gene FMR1

, 1993
: The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known. We have determined additional cDNA sequences both at the 5' and 3' end.
Willems, Patrick J., Degraaff, Esther, de Boulle, Kristel, Verkerk, Annemiek J.M.H., et al.   +4 more
core   +2 more sources

Effects of lifelong sulforaphane intake on behavioural, neurochemical and biomolecular dysfunctions in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders

British Journal of Pharmacology, EarlyView.
Created in BioRender. Schiavone, S. (2026). https://BioRender.com/cy0xq6z. Abstract Background and Purpose Autism spectrum disorders (ASD) are multifactorial neurodevelopmental conditions associated with oxidative stress and neuroinflammation across critical developmental periods.
Vladyslav Sikora, Maria Bove, Lisa Pia Agosti, Rossella Pia Palmieri, Mohsin Zafar, Paolo Tucci, Maria Grazia Morgese, Stefania Schiavone, Luigia Trabace   +8 more
wiley   +1 more source

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development

, 2011
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) within the 5'-untranslated region of the FMR1 gene.
Noctor, SC, Cerdeno, VM, Porras, EN, Prakash, AN, Berman, RF, Angelastro, JM, Cunningham, CL, Willemsen, Rob, Hagerman, PJ, Pessah, IN   +9 more
core   +1 more source

Modeling fragile X syndrome in the Fmr1 knockout mouse [PDF]

, 2014
Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability and one of the leading genetic causes for autism spectrum disorder.
Crawley, Jacqueline N, Silverman, Jill L, Kazdoba, Tatiana M, Leach, Prescott T   +3 more
core   +1 more source

Impaired bidirectional NMDA receptor dependent synaptic plasticity in the dentate gyrus of adult female Fmr1 heterozygous knockout mice

Neurobiology of Disease, 2016
Fragile-X syndrome (FXS) is caused by the transcriptional repression of the Fmr1 gene resulting in loss of the Fragile-X mental retardation protein (FMRP).
S.Y. Yau, C.A. Bostrom, J. Chiu, C.J. Fontaine, S. Sawchuk, A. Meconi, R.C. Wortman, E. Truesdell, A Truesdell, C Chiu, B.N. Hryciw, B.D Eadie, M. Ghilan, B.R Christie   +13 more
doaj   +1 more source