A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome

Authors: Juan Liu, Jihong Hu, Pingqiu Zhou, Yaqin Duan, Shuigui Yin

Source: Hereditas, Vol 162, Iss 1, Pp 1-8 (2025)

Subject Terms: NR2F1 variant, BBSOAS, Neurodevelopmental disorders, Optic atrophy, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1601-5223

Access URL: https://doaj.org/article/da5f4d6222694e38af0c42f21bb6203f

Mitochondrial regulation of adult hippocampal neurogenesis: Insights into neurological function and neurodevelopmental disorders

Authors: Sara Bonzano, Eleonora Dallorto, Serena Bovetti, Michèle Studer, Silvia De Marchis

Source: Neurobiology of Disease, Vol 199, Iss , Pp 106604- (2024)

Subject Terms: Mitochondria, Nr2f1, BBSOAS, Adult neural stem cells, Dentate gyrus, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996124002043; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/6130cfbb65f14e35aa93a2d86f4ee900

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

Authors: 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

Source: Disease Models & Mechanisms, Vol 16, Iss 6 (2023)

Subject Terms: coup-tfi, mitochondrial dysfunction, dentate gyrus, intellectual disability, adult-born neurons, bbsoas, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/16/6/dmm049854; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/2a33b85ba24e4ce4a92357225889f63e

Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology

Authors: Chiara Tocco, Michele Bertacchi, Michèle Studer

Source: Frontiers in Molecular Neuroscience, Vol 14 (2021)

Subject Terms: BBSOAS, neurodevelopmental disease, NR2F1, mouse models, cortical development, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2021.767965/full; https://doaj.org/toc/1662-5099

Access URL: https://doaj.org/article/ba680b7353d0447aa9c6fa5a13e548f6

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

Authors: Catia Mio, Federico Fogolari, Laura Pezzoli, Angela V. D’Elia, Maria Iascone, Giuseppe Damante

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

Subject Terms: BBSOAS, monozygotic twins, NR2F1, whole exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/366ddf04f33c48069963929cac8c1c34

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome

Authors: Michele Bertacchi, Chiara Tocco, Christian P. Schaaf, Michèle Studer

Source: Cells, Vol 11, Iss 8, p 1260 (2022)

Subject Terms: BBSOAS, NR2F1, haploinsufficiency, neurodevelopmental disorder, genotype-phenotype correlation, clinical symptoms, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/11/8/1260; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/63a0be6283f54b25ac78ee5e246750e2

This result is not displayed to guests.
Login for full access.

Walk for BBSOAS planned in Locust

Authors: By:Staff Reports

Source: Stanly News and Press, The (NC), March 5, 2025 News, 1pp

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.

This result is not displayed to guests.
Login for full access.