Results 71 to 80 of about 2,751,167 (169)

Comparative analysis of DNA methylation in transgenic mice with unstable CGG repeats from FMR1 gene

, 2010
Methylation of CpG sequences in and around CGG triplet repeats in FMR1 gene has strong correlation with manifestation of the fragile X syndrome in human patients.
Majumdar, Subeer S., Brahmachari, Vani, Datta, Sonal, Mehta, Abhishek K., Alam, Mohammad Parwez, Gulati, Neerja, Baskaran, Sujatha, Vani Brahmachari, Subeer Majumdar, Sujatha Baskaran, Abhishek K Mehta, Mohammad Parwez Alam, Neerja Gulati, Sonal Datta   +13 more
core   +1 more source

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors [PDF]

, 2012
Fragile X syndrome (FXS) is one of several clinical disorders associated with mutations in the X-linked Fragile X Mental Retardation-1 (FMR1) gene. With evolving knowledge about the phenotypic consequences of FMR1 transcription and translation, sharp ...
Allyn McConkie‐Rosell, Brenda Finucane, Liane Abrams, Amy Cronister, Alison D. Archibald, Abrams, L, McConkie-Rosell, A, Cronister, A, Bennett, RL, Archibald, AD, Finucane, B, Robin L. Bennett   +11 more
core   +1 more source

Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis

Journal of Neuroinflammation, 2021
Predisposition to autoimmunity and inflammatory disorders is observed in patients with fragile X-associated syndromes. These patients have increased numbers of CGG triplets in the 5’ UTR region of FMR1 (Fragile X Mental Retardation 1) gene, that affects ...
Scott Thomas, Odessa-Maud Fayet, Frédérique Truffault, Elie Fadel, Bastien Provost, Abderaouf Hamza, Sonia Berrih-Aknin, Jean-Paul Bonnefont, Rozen Le Panse   +8 more
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

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

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

Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice. [PDF]

, 1995
Fragile X syndrome is one of the most common genetic causes of mental retardation, yet the mechanisms controlling expression of the fragile X mental retardation gene FMR1 are poorly understood.
Matsuo, K, Hergersberg, M, Rülicke, T, Schaffner, W, Gassmann, M, Lüscher, B, Aguzzi, A; https://orcid.org/, Lüscher B, Matsuo K, Rülicke T, Gassmann M, Schaffner W, Aguzzi A, Hergersberg M   +13 more
core   +1 more source

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome.

PLoS ONE, 2016
Fragile X syndrome (FXS) is a common cause of intellectual disability that is most often due to a CGG-repeat expansion mutation in the FMR1 gene that triggers epigenetic gene silencing.
Nina Xie, He Gong, Joshua A Suhl, Pankaj Chopra, Tao Wang, Stephen T Warren   +5 more
doaj   +1 more source

Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.

PLoS ONE, 2011
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. In addition to cognitive deficits, FXS patients exhibit hyperactivity, attention deficits, social difficulties, anxiety, and other autistic-like behaviors.
Steven D Sheridan, Kraig M Theriault, Surya A Reis, Fen Zhou, Jon M Madison, Laurence Daheron, Jeanne F Loring, Stephen J Haggarty   +7 more
doaj   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2601-2607, December 2026.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source