Results 21 to 30 of about 206 (103)

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. [PDF]

Hum Mol Genet, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex neurological phenotype, with high prevalence of intellectual disability and optic nerve atrophy/hypoplasia.
Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP.   +18 more
europepmc   +2 more sources

Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior [PDF]

Disease Models & Mechanisms
Johann G. Maass, Dominik Kamionek, Annabelle Mantilleri, Susanne Theiss, Laura Dötsch, Felix Franke, Tim Schubert, Jonas G. Scheck, Claudia Pitzer, Paolo Piovani, Michele Bertacchi, Olivier Deschaux, Anubhav Singh, Chun-An Chen, Henning Fröhlich, Michèle Studer, Christian P. Schaaf   +16 more
doaj   +2 more sources

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. [PDF]

Cold Spring Harb Mol Case Stud, 2017
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental
Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D.   +6 more
europepmc   +2 more sources

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome

, 2021
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy associated with developmental ...
Billiet, B., Amati-Bonneau, P., Dunnen, J.T. den, Ferre, M., Guehlouz, K., Reynier, P., Lenaers, G., Desquiret-Dumas, V., Milea, D., Mirebeau-Prunier, D., Gohier, P.   +10 more
core   +2 more sources

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2019–2020

Mass Spectrometry Reviews, Volume 42, Issue 5, Page 1984-2206, September/October 2023., 2023
Abstract This review is the tenth update of the original article published in 1999 on the application of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry to the analysis of carbohydrates and glycoconjugates and brings coverage of the literature to the end of 2020.
David J. Harvey
wiley   +1 more source

Bosch-Boonstra-Schaaf Syndrome

, 2023
Svrha ovog diplomskog rada je prikazat rijetku genetičku bolest Bosch-Boonstra-Schaaf sindrom optičke atrofije. Bosch-Boonstra-Schaaf sindrom optičke atrofije je monogenski autosomno dominantni poremećaj NR2F1 gena, karakteriziran zaostajanjem u razvoju,
Hrvatin, Nenad
core   +2 more sources

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

Frontiers in Molecular Neuroscience, 2021
The assembly and maturation of the mammalian brain result from an intricate cascade of highly coordinated developmental events, such as cell proliferation, migration, and differentiation.
Chiara Tocco, Michele Bertacchi, Michèle Studer   +2 more
doaj   +1 more source

Behavioural sleep problems in children and adults with intellectual disabilities: An integrative literature review

Journal of Applied Research in Intellectual Disabilities, Volume 36, Issue 5, Page 916-928, September 2023., 2023
Abstract Background People with intellectual disabilities are more likely to experience sleep problems, which can affect quality of life, physical health, mental health and well‐being. Methods An integrative literature review was conducted to investigate what is known about behavioural sleep disturbances in people with an intellectual disability.
Lynette Harper, Su McAnelly, Ian Walshe, Ann Ooms, Irene M. Tuffrey‐Wijne   +4 more
wiley   +1 more source

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. [PDF]

, 2021
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder referred to as the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Although visual loss is a prominent feature seen in affected individuals, the molecular and cellular ...
Caleo, Matteo, Liu, Grant, Dominici, Chloé, Giordano, Nadia, Bowman, Richard, Clark, Elaine, Arno, Gavin, Bedoukian, Emma C, Charif, Majida, Pontikos, Nikolas, Tocco, Chiara, Lenaers, Guy, Martinez-Monseny, Antonio, Avery, Robert A, Holder, Graham, Kruszewski, Adam, Jurkute, Neringa, Webster, Andrew R, Defoort, Sabine, Kaliakatsos, Marios, Wakeling, Emma, Amati-Bonneau, Patrizia, Bertacchi, Michele, Vidal-Santacana, Mariona, Acheson, James, Davagnanam, Indran, Reddy, Maddy Ashwin, Holder, Graham E, Meunier, Isabelle, Yu-Wai-Man, Patrick, Bedoukian, Emma, Avery, Robert, Rosser, Elisabeth, Studer, Michèle, Jeanjean, Luc, Kruszewski, Adam M, Han, Jinu, Ahn, Sung Jun, Gardham, Alice, Liu, Grant T, Oluonye, Ngozi, Gaggioli, Cedric, Robson, Anthony G, Kim, Ungsoo Samuel, Vincent-Delorme, Catherine, Webster, Andrew, Robson, Anthony   +46 more
core   +2 more sources

A severe case of Bosch–Boonstra–Schaaf optic atrophy syndrome with a novel description of coloboma and septo‐optic dysplasia, owing to a start codon variant in the NR2F1 gene

, 2021
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a rare congenital syndrome characterized by a range of phenotypes including optic atrophy and intellectual disability among other features.
Baralle, Diana, Gabriella Gazdagh, Jay E. Self, Self, Jay E., Rebecca Mawby, Mawby, Rebecca, Diana Baralle, Gazdagh, Gabriella   +7 more
core   +1 more source