Results 81 to 90 of about 28,343 (239)

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Role of CTCF protein in regulating FMR1 locus transcription.

PLoS Genetics, 2013
Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and methylation of a CGG triplet repeat (methylated full mutation). An antisense transcript (FMR1-AS1),
Stella Lanni, Martina Goracci, Loredana Borrelli, Giorgia Mancano, Pietro Chiurazzi, Umberto Moscato, Fabrizio Ferrè, Manuela Helmer-Citterich, Elisabetta Tabolacci, Giovanni Neri   +9 more
doaj   +1 more source

Fmr1 knockout disrupts multiple intrinsic properties via reduced HCN channel activity in mediodorsal thalamocortical neurons

Experimental Physiology, EarlyView.
Abstract The neurodevelopmental disorder fragile X syndrome (FXS) results from hypermethylation of the FMR1 gene, which prevents production of the FMRP protein. FMRP modulates the expression and function of a variety of proteins, including voltage‐gated ion channels, such as hyperpolarization‐activated and cyclic nucleotide‐gated (HCN) channels, which ...
Gregory J. Ordemann, Polina Lyuboslavsky, Alena Kizimenko, Audrey C. Brumback   +3 more
wiley   +1 more source

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers. [PDF]

, 2016
Premutation carriers have a 55-200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene. Currently, 1.5 million individuals are affected in the United States, and carriers are at risk of developing the late-onset neurodegenerative disorder ...
Giulivi, Cecilia, Hagerman, Randi, Halmai, Julian, Napoli, Eleonora, Tassone, Flora   +4 more
core   +2 more sources

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 348-352, February 2026.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Fmr1 exon 14 skipping in late embryonic development of the rat forebrain

BMC Neuroscience, 2022
Background Fragile X syndrome, the major cause of inherited intellectual disability among men, is due to deficiency of the synaptic functional regulator FMR1 protein (FMRP), encoded by the FMRP translational regulator 1 (FMR1) gene.
Juliana C. Corrêa-Velloso, Alessandra M. Linardi, Talita Glaser, Fernando J. Velloso, Maria P. Rivas, Renata E P. Leite, Lea T. Grinberg, Henning Ulrich, Michael R. Akins, Silvana Chiavegatto, Luciana A. Haddad   +10 more
doaj   +1 more source

Purkinje cell-specific Grip1/2 knockout mice show increased repetitive self-grooming and enhanced mGluR5 signaling in cerebellum [PDF]

, 2019
Cerebellar Purkinje cell (PC) loss is a consistent pathological finding in autism. However, neural mechanisms of PC-dysfunction in autism remain poorly characterized.
Chiu, Shu-Ling, Gil Infante, Ana, Huganir, Richard L, Mejías Estévez, Rebeca María, Rose, Rebecca, Wang, Tao, Zhao, Yifan   +6 more
core   +1 more source

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 371-378, February 2026.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

FMR1 Reactivating Treatments in Fragile X iPSC-Derived Neural Progenitors In Vitro and In Vivo

Cell Reports, 2019
Summary: Fragile X syndrome (FXS) is caused primarily by a CGG repeat expansion in the FMR1 gene that triggers its transcriptional silencing. In order to investigate the regulatory layers involved in FMR1 inactivation, we tested a collection of chromatin
Dan Vershkov, Nina Fainstein, Sapir Suissa, Tamar Golan-Lev, Tamir Ben-Hur, Nissim Benvenisty   +5 more
doaj   +1 more source

Mutation of CD2AP and SH3KBP1 binding motif in alphavirus nsP3 hypervariable domain results in attenuated virus [PDF]

, 2018
Infection by Chikungunya virus (CHIKV) of the Old World alphaviruses (family Togaviridae) in humans can cause arthritis and arthralgia. The virus encodes four non-structural proteins (nsP) (nsP1, nsp2, nsP3 and nsP4) that act as subunits of the virus ...
Aquilimeba, Muriel, Kasvandik, Sergo, Lulla, Aleksei, Lulla, Valeria, McInerney, Gerald M., Merits, Andres, Morro, Ainhoa Moliner, Mutso, Margit, Saul, Sirle, Smedberg, Cecilia, Tarve, Liisi, Teppor, Mona, Thaa, Bastian, Varjak, Margus   +13 more
core   +3 more sources