Results 91 to 100 of about 19,944 (229)

Mis-regulated splicing in Fmr1-deficient mouse N2A neuroblastoma cells.

, 2023
(A) Western blots showing depletion of FMRP following siRNA knockdown of Fmr1. GAPDH serves as a loading control. siNT refers to a nontargeting siRNA control. (B) Types of mis-splicing events and the number of genes affected in Fmr1-depleted N2A cells (p
Suna Jung (17550046), Geongoo Han (17550049), Sneha Shah (418933), Joel D. Richter (9510890)   +3 more
core   +1 more source

Peripheral regeneration of Aβ low‐threshold mechanoreceptors is limited despite activation of regenerative transcriptional pathways

The Journal of Physiology, EarlyView.
Abstract figure legend The regeneration of Aβ low‐threshold mechanoreceptors (Aβ‐LTMRs), sensory neurons responsible for discriminative touch, has not previously been explored. Here, we took advantage of the selective expression of Calb1 in Aβ‐LTMRs to generate two genetic mouse models for studying their regenerative response after nerve injury.
Sara Bolívar, Natàlia Martínez‐Mateu, David Ovelleiro, Esther Udina   +3 more
wiley   +1 more source

FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve [PDF]

, 2018
Background: Fragile-X-Mental-Retardation-1- (FMR1)-gene is supposed to be a key gene for ovarian reserve and folliculogenesis. It contains in its 5’-UTR a triplet-base-repeat (CGG), that varies between 26 and 34 in general population.
Hinderhofer, Katrin, Youness, Berthe, Messmer, Birgitta, Alcoba, Diego D., Dietrich, Jens E., Rehnitz, Julia, Freis, Alexander, Germeyer, Ariane, Brum, Ilma S., Strowitzki, Thomas   +9 more
core   +2 more sources

Mouse models of fragile X-related disorders

Disease Models & Mechanisms, 2023
Rob Willemsen, R. Frank Kooy
doaj   +1 more source

Initial Review of Government‐Funded Reproductive Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome

Prenatal Diagnosis, EarlyView.
Paul A. Scuffham, Edwin P. Kirk, Martin B. Delatycki, Martin Downes, Nigel G. Laing   +4 more
wiley   +1 more source

sox17 Mutagenesis Reveals Compounding Effects ofMaternal and Zygotic Contribution on Microglia Abundance

Glia, Volume 75, Issue 1, January 2027.
sox17 is a maternal effect gene impacting microglia and microglia precursor abundance. sox17 mRNA injection timed to maternal contribution rescues abundance. A CRISPR screen reveals f11r.1, gas6, and mpp1 also regulate microglia abundance. ABSTRACT Embryonic development is shaped by maternal and zygotic factors but how the interplay between these ...
Camden A. Spring, John Dennen, Dailin Gan, Jun Li, Cody J. Smith   +4 more
wiley   +1 more source

Single‐Cell Integration of Mouse Models of Autism Reveals Conserved Transcriptomic Signatures of Excitatory‐Inhibitory Imbalance and Glial Dysfunction

Glia, Volume 74, Issue 12, December 2026.
Integrated scRNA‐seq from 11 ASD models reveals convergent E/I imbalance and glial dysfunction. Conserved astrocyte and oligodendrocyte dysregulation transcend model‐specific variability. Validated by human datasets. ABSTRACT The etiological heterogeneity of autism spectrum disorder (ASD) complicates identifying core molecular mechanisms.
João V. Nani, Victor J. Duque, Alysson R. Muotri, André S. Mecawi   +3 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

FMR1, IMR90 Fibroblast cell line, double-stranded DNA methylation patterns

, 2017
FMR1, IMR90 Fibroblast cell line, double-stranded DNA methylation ...
Stan Palasek (4574242), Daniel G. Miller (169553), Cavanaugh, Chris, Genereux, Diane P., Minseung Choi (4574236), Allain, Shannon Q., Diane P. Genereux (176685), Choi, Minseung, Kevin D. Sinclair (4574239), Haneen Al-Azzawi (4574245), Jamie Goodson (4574251), Noah Simon (685914), Goodson, Jamie, Shannon Q. Allain (4574248), Winslow C. Johnson (761863), Johnson, Winslow C., Carol B. Ware (360247), Ware, Carol B., Al-Azzawi, Haneen, Simon, Noah, Reinhard Stöger (176692), Palasek, Stan, Charles D. Laird (176705), Chris Cavanaugh (4574254), Laird, Charles D., Miller, Daniel G., Sinclair, Kevin D., Stöger, Reinhard   +27 more
core   +1 more source

Are UK Research Priorities Aligned? Comparing the Research Priorities of the Down Syndrome, Fragile X Syndrome and Williams Syndrome Communities, With the Research and Funding Landscape

Mind, Brain, and Education, Volume 20, Issue 4, November 2026.
ABSTRACT There is a lack of understanding of how research activity in learning disability compares with community research priorities in the United Kingdom, where an estimated 1.5 million people live with a learning disability. Using Down syndrome (DS), Fragile X syndrome (FXS) and Williams syndrome (WS) as model conditions with learning disability, we
Laura Cristescu, Elizabeth Pellicano, Gaia Scerif, Jo Van Herwegen, Emily K. Farran   +4 more
wiley   +1 more source