Results 121 to 130 of about 18,012 (216)

Deletion of FMR1 results in sex-specific changes in behavior.

, 2017
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by excessive trinucleotide (CGG) repeats in the FMR1 gene coding for fragile x mental retardation protein (FMRP).
Nolan, Suzanne O., 1991-, Nolan-Strle, Suzanne O., 1991-   +1 more
core  

Molecular mechanism of FMR1 gene silencing in fragile X syndrome

, 2007
TypescriptThesis (PhD) -- University of Melbourne, Faculty of Medicine, Dentistry and Health Sciences 2007Includes bibliographical references (pages 260-288)Fragile X syndrome is an X-linked dominant disorder and is the most common cause of inherited ...
Chow, Maggie Zi-Ying.
core  

NORMAL PHENOTYPE IN 2 BROTHERS WITH A FULL FMR1 MUTATION

, 1995
The fragile X syndrome is associated with an expanding CGG repeat in the 5' untranslated region of the first exon of the FMR1 gene. Subsequent methylation of the promoter region inhibits expression of the FMR1 gene.
VERHEIJ, CE, WILLEMSEN, R, HOOGEVEEN, AT, SMEETS, HJM, SMITS, APT, Oosterwijk, JC, OOSTRA, BA, THEELEN, JPG, VANDEBURGT, [No Value]   +8 more
core  

Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women. [PDF]

Hum Reprod
Morbey EJ, Day FR, Wright DJ, Murzynowski JRA, McGlacken-Byrne SM, Murray A, Ong KK, Perry JRB.   +7 more
europepmc   +1 more source

Altered cognitive processes shape tactile perception in autism. [PDF]

Elife
Semelidou O, Tortochot-Megne Fotso M, Winderickx A, Frick AA.   +3 more
europepmc   +1 more source

GABAergic neurons exhibit subtype-specific changes in the developing somatosensory cortex of a rat model of Fragile X Syndrome. [PDF]

Front Neurosci
Sumera A, Crichton A, Kind PC, Sibley C, Booker SA.   +4 more
europepmc   +1 more source

Translatome profiling reveals opposing alterations in inhibitory and excitatory neurons of fragile X mice and identifies EPAC2 as a therapeutic target. [PDF]

Neuron
Suresh A, Kourdougli N, Nomura T, Buth JE, Miranda-Rottmann S, Sánchez-León CA, Wu MW, Nelson SM, Wall LT, Tran AT, Araya R, Contractor A, Gandal MJ, Portera-Cailliau C.   +13 more
europepmc   +1 more source

Diminished Signal-to-Noise Ratio Disrupts Somatosensory Population Encoding and Drives Tactile Hyposensitivity in the Fmr1^-/y Autism Model. [PDF]

Adv Sci (Weinh)
Semelidou O, Gauvrit T, Vandromme C, Cornier A, Saint-Jean A, Feuvre YL, Ginger M, Frick A.   +7 more
europepmc   +1 more source

Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons. [PDF]

J Neurodev Disord
Hourani SM, Utami KH, Oh SL, Castrén ML, Pouladi MA.   +4 more
europepmc   +1 more source

Auditory Stimulation Rescues Cognitive Deficit in <i>Fmr1</i>-KO Mice. [PDF]

Brain Sci
Ouardouz M, Hernan AE, Mahoney JM, Scott RC.   +3 more
europepmc   +1 more source