Results 31 to 40 of about 206 (103)

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

, 2016
Item does not contain fulltextPURPOSE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1.
Chung, WK, Walkiewicz, M., Lewis, RA, Cho ScM, MT, Rosenfeld, JA, Elmslie, F., Elmslie, F, Niyazov, D., McKnight, D, Schoonveld, C., Schaaf, C, Jayakar, P., Malkin, E., de Vries, BBA, Bosch, D.G.M., Kendall, F, Malkin, E, Douglas, G, Hisama, F.M., Cremers, FPM, Payne, K., Jayakar, P, Cho, M.T., Niyazov, D, Walsh, L., Veluchamy, V., Rosenfeld, J.A., Millan, F, Lewis, R.A., Richard, G, Bosch, DGM, Pascual, JM, Shinawi, M., Veluchamy, V, Hisama, FM, Ramsey, K., Schaaf, C., Chen, C.A., Douglas, G., Boonstra, FN, Richard, G., Walkiewicz, M, Mann, J., Moss, T., Schoonveld, C, Cremers, F.P.M., Ramsey, K, Shinawi, M, Moss, T, Monaghan, KG, Li, C, Schreiber, A., Li, C., Vries, B.B. de, Monaghan, K.G., Anyane-Yeboa, K, Juusola, J, Boonstra, F.N., Pascual, J.M., Schreiber, A, Anyane-Yeboa, K., Mann, J, Kendall, F., Payne, K, Chung, W.K., Walsh, L, Millan, F., Juusola, J., McKnight, D., Chen, C-A   +69 more
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NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients [PDF]

, 2020
The relationships between impaired cortical development and consequent malformations in neurodevelopmental disorders, as well as the genes implicated in these processes, are not fully elucidated to date.
Garde, A., Mau-Them, F., Romano, A., Loubat, A., Kuentz, P., Studer, M., Bertacchi, M., Sorlin, A., Oliviero, S., Philippe, C., Di Giaimo, R., D'Incerti, L., Faivre, L., Willems, M., Cappello, S., Frassoni, C., Devillard, F., van Kien, P., Perrin, L., Neri, F.   +19 more
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Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants

Stem Cell Research
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations or deletions in NR2F1, leading to intellectual disability, developmental delay, visual impairments, epilepsy, hypotonia ...
Michele Bertacchi, Romain Desprat, Gaetan Lesca, Chloé Quelin, Marjolaine Willems, Catherine Vincent-Delorme, Laurence Faivre, Christian Jorgensen, Michèle Studer   +8 more
doaj   +1 more source

Клинико-генетические характеристики синдрома Бош–Бунстра–Шаафа, обусловленного вновь выявленными мутациями в гене NR2F1

, 2020
Bosch–Boonstra–Schaaf optic atrophy is autosomal dominant disorder caused by mutations in the NR2F1 gene. Its common features include optic atrophy and / or hypoplasia, developmental delay, intellectual disability, attention deficit disorder, autism ...
O. L. Mironovich, О. А. Щагина, Е. Л. Дадали, A. O. Borovikov, E. L. Dadali, О. Л. Миронович, O. A. Shchagina, А. О. Боровиков   +7 more
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Mitochondrial regulation of adult hippocampal neurogenesis: Insights into neurological function and neurodevelopmental disorders

Neurobiology of Disease
Mitochondria are essential regulators of cellular energy metabolism and play a crucial role in the maintenance and function of neuronal cells. Studies in the last decade have highlighted the importance of mitochondrial dynamics and bioenergetics in adult
Sara Bonzano, Eleonora Dallorto, Serena Bovetti, Michèle Studer, Silvia De Marchis   +4 more
doaj   +1 more source

NAT10‐mediated ac4C modification promotes ectoderm differentiation of human embryonic stem cells via acetylating NR2F1 mRNA

Cell Proliferation, Volume 57, Issue 4, April 2024.
NAT10 catalysed ac4C modification to improve translation efficiency in ectodermal cells. In addition, the NAT10 interacted with nuclear receptor subfamily 2 group F member 1 (NR2F1) mRNA, which could increase its stability and translation, thereby promoting the expression of NR2F1.
Junbang Ge, Zhaoxia Wang, Ji Wu
wiley   +1 more source

Involvement of nr2f genes in brain regionalization and eye development during early zebrafish development

Development, Growth &Differentiation, Volume 66, Issue 2, Page 145-160, February 2024.
We established zebrafish mutant lines for the three nr2f genes that are expressed in the telencephalon and examined their phenotypes. The data suggest that the nr2f genes play a role in telencephalon development via the formation of signaling centers. Abstract Nuclear receptor subfamily 2 group F (Nr2f) proteins are essential for brain development in ...
Gazlima Chowdhury, Koto Umeda, Takero Ohyanagi, Kouhei Nasu, Kyo Yamasu   +4 more
wiley   +1 more source

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. [PDF]

, 2013
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive ...
Land, John M., Lin, JP, Antony, J, Brandner, Sebastian, Broomfield, Alexander, Menezes, MP, Oppenheim, Marcus, Horvath, Rita, Pandraud, Amelie, Lin, Jean-Pierre, Scherer, Steven S., Abrams, Alexander J., Shah, Ayaz H, Sugano, K, Lim, MJ, Scoto, Mariacristina, Carpenter, Kevin, Megarbane, Andre, Gold, Wendy, Land, JM, Ng, Joanne, Phadke, Rahul, Matsubara, K, Mathew, Ann A., Lim, Ming J., Shah, AH, Lek, Monkol, Foley, AR, Matsubara, Kazuo, Hargreaves, Iain, Foley, A. Reghan, Züchner, S, Manzur, Adnan Y., Lim, Ming J, McCullagh, BG, Mathew, Ann A, Reilly, Mary M, McGarvey, Michael L, Olpin, S, Urtizberea, JA, Scoto, M, Webster, R, Lek, M, Olpin, Simon, Wang, Min X, Reilly, MM, Farrell, Michael O., Burns, J, Houlden, H, McCullagh, B. Gary, Forman, Eva, Burns, Joshua, Straub, Volker, Hargreaves, IP, Houlden, Henry, Gonzalez, Michael A., Megarbane, A, Jungbluth, Heinz, O'Byrne, JJ, Scherer, Steven S, Pandraud, A, Menezes, Manoj P., Hughes, Imelda, O’Byrne, James J, Gonzalez, Michael A, Gold, W, McCullagh, B Gary, Muntoni, Francesco, Züchner, Stephan, Scherer, SS, Baxter, PS, Shah, Ayaz H., Jungbluth, Heinz; id_orcid, Christodoulou, John, O'Byrne, James J, McGarvey, ML, O'Brien, Katherine, Clayton, P, Broomfield, A, Menezes, Manoj P, King, MD, Yonezawa, Atsushi, O'Byrne, James J., Baxter, Peter S, McGarvey, Michael L., Prasad, M, Ng, J, Straub, V, Land, John M, Muntoni, F, Abrams, AJ, Lin, J-P, O’Brien, Katherine, Al-Odaib, A, Rahman, S, Al-Odaib, Ahmad, Zuechner, Stephan, Clayton, Peter, Manzur, Adnan Y, Phadke, R, Reilly, Mary M., Jungbluth, H, Farrell, Michael O, Prasad, Manish, Ouvrier, Robert A, Farrell, MO, Antony, Jayne, Horvath, R, Foley, A Reghan, Forman, E, Manzur, AY, Brandner, S, Hargreaves, I, Gonzalez, MA, Christodoulou, J, Rahman, Shamima, King, Mary D, King, Mary D., Sugano, Kumiko, Hughes, I, Ouvrier, RA, Wang, Min X., Ouvrier, Robert A., Urtizberea, J. Andoni, Webster, Richard, Abrams, Alexander J, Urtizberea, J Andoni, Baxter, Peter S., O'Brien, K, Wang, MX, Mathew, AA, Oppenheim, M, Carpenter, K, Yonezawa, A, Zuechner, S   +134 more
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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

, 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 ...

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Pathogenic NR2F1 Variants Cause a Systemic Neurodevelopmental Ocular Phenotype Recapitulated in a Mutant Mouse Model

, 2021
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder - Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS). Although visual loss is a prominent feature seen in affected individuals, the molecular and cellular mechanisms
Neringa Jurkute; Michele Bertacchi; Gavin Arno; Chiara Tocco; Ungsoo Kim; Adam Kruszewski; Robert Avery; Emma Bedoukian; Jinu Han; Sung Ahn; James Acheson; Indran Davagnanam; Richard Bowman; Marios Kaliakatsos; Ashwin Reddy; Ngozi Oluonye; Patrizia Amati-Bonneau; Majida Charif; Guy Lenaers; Isabelle Meunier; Sabine Defoort; Catherine Vincent-Delorme; Anthony Robson; Graham Holder; Luc Jeanjean Jeanjean; Antonio Martinez-Monseny; Grant Liu; Andrew Webster; Michèle Studer; Patrick Yu-Wai-Man
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