Results 11 to 20 of about 206 (103)

Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo [PDF]

Communications Biology
As a transcription factor, NR2F1 regulates spatiotemporal gene expression in the nucleus particularly during development. Aberrant NR2F1 causes the rare neurodevelopmental disorder Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.
Michele Bertacchi, Susanne Theiß, Ayat Ahmed, Michael Eibl, Agnès Loubat, Gwendoline Maharaux, Wanchana Phromkrasae, Krittalak Chakrabandhu, Aylin Camgöz, Marco Antonaci, Christian Patrick Schaaf, Michèle Studer, Magdalena Laugsch   +12 more
doaj   +3 more sources

NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome [PDF]

Disease Models & Mechanisms, 2023
Sara Bonzano, Eleonora Dallorto, Ivan Molineris, Filippo Michelon, Isabella Crisci, Giovanna Gambarotta, Francesco Neri, Salvatore Oliviero, Ruth Beckervordersandforth, Dieter Chichung Lie, Paolo Peretto, Serena Bovetti, Michèle Studer, Silvia De Marchis   +13 more
doaj   +4 more sources

Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion. [PDF]

Protein Sci
Abstract Deciphering the structural effects of gene variants is essential for understanding the pathophysiological mechanisms of genetic diseases. Using a neurodevelopmental disorder called Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome (BBSOAS) as a genetic disease model, we applied structural bioinformatics and Genetic Code Expansion (GCE) strategies ...
Marino V, Phromkrasae W, Bertacchi M, Cassini P, Chakrabandhu K, Dell'Orco D, Studer M.   +6 more
europepmc   +3 more sources

Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations [PDF]

American Journal of Medical Genetics Part A, Volume 182, Issue 6, Page 1426-1437, June 2020., 2020
Abstract Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability.
Megan E. Rech, John M. McCarthy, Chun‐An Chen, Jane C. Edmond, Veeral S. Shah, Daniëlle G. M. Bosch, Gerard T. Berry, Linford Williams, Suneeta Madan‐Khetarpal, Dmitriy Niyazov, Charles Shaw‐Smith, Erin M. Kovar, Philip J. Lupo, Christian P. Schaaf   +13 more
wiley   +3 more sources

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome

Cells, 2022
The formation and maturation of the human brain is regulated by highly coordinated developmental events, such as neural cell proliferation, migration and differentiation.
Michele Bertacchi, Chiara Tocco, Christian P. Schaaf, Michèle Studer   +3 more
doaj   +2 more sources

Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

EMBO Molecular Medicine, 2019
Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused
Michele Bertacchi, Agnès Gruart, Polynikis Kaimakis, Cécile Allet, Linda Serra, Paolo Giacobini, José M Delgado‐García, Paola Bovolenta, Michèle Studer   +8 more
doaj   +2 more sources

Preverbal visual assessment for screening cerebral visual impairment: Diagnostic accuracy and clinical utility. [PDF]

Dev Med Child Neurol
Abstract Aim To evaluate the relationship between Preverbal Visual Assessment (PreViAs) results and cerebral visual impairment (CVI) diagnosis. Method This single‐center retrospective chart review included children who completed a CVI interdisciplinary clinic or occupational therapy vision evaluation between May 2018 and May 2023 and had a completed ...
Harpster KL, Schwartz TL, Johnson A, Donofe R, Lin L, Rice ML.   +5 more
europepmc   +2 more sources

Mapping of chromatin architecture and enhancer-promoter interactions in the cochlea [PDF]

Frontiers in Molecular Biosciences
IntroductionChromatin interactions, particularly those between promoters and distal enhancers, enable precise gene regulation in specialized tissues, like the cochlea in the inner ear.
Tuba Ege, Celia R. Bloom, Mi Zhou, Huizhan Liu, Litao Tao   +4 more
doaj   +2 more sources

Conserved DNA methylation signatures in the prefrontal cortex of female newborn and juvenile guinea pigs following antenatal betamethasone exposure. [PDF]

J Neuroendocrinol
Abstract Antenatal corticosteroids (ACS) improve perinatal survival when there is a risk of preterm birth. Although evidence suggests an increased risk of developing neurobehavioural disorders in exposed offspring, the mechanisms involved remain largely unknown.
Kim B, Kostaki A, Matthews SG.
europepmc   +2 more sources

Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. [PDF]

Am J Med Genet A, 2020
International audienceNuclear receptor subfamily 2 group F member 1 (NR2F1) is an orphan receptor and transcriptional regulator that is involved in neurogenesis, visual processing and development, and cortical patterning. Alterations in NR2F1 cause Bosch-
Bojanek EK, Mosconi MW, Guter S, Betancur C, Macmillan C, Cook EH.   +5 more
europepmc   +2 more sources