Dominant optic atrophy: Culprit mitochondria in the optic nerve
Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …
degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual …
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …
Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology
C Tocco, M Bertacchi, M Studer - Frontiers in Molecular Neuroscience, 2021 - frontiersin.org
The assembly and maturation of the mammalian brain result from an intricate cascade of
highly coordinated developmental events, such as cell proliferation, migration, and …
highly coordinated developmental events, such as cell proliferation, migration, and …
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases
Abstract Human Phenotype Ontology (HPO) terms are increasingly used in diagnostic
settings to aid in the characterization of patient phenotypes. The HPO annotation database …
settings to aid in the characterization of patient phenotypes. The HPO annotation database …
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients
M Bertacchi, AL Romano, A Loubat… - The EMBO …, 2020 - embopress.org
The relationships between impaired cortical development and consequent malformations in
neurodevelopmental disorders, as well as the genes implicated in these processes, are not …
neurodevelopmental disorders, as well as the genes implicated in these processes, are not …
Impact of integrated translational research on clinical exome sequencing
Purpose Exome sequencing often identifies pathogenic genetic variants in patients with
undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance …
undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance …
The pleiotropic transcriptional regulator COUP-TFI plays multiple roles in neural development and disease
M Bertacchi, J Parisot, M Studer - Brain research, 2019 - Elsevier
Transcription factors are expressed in a dynamic fashion both in time and space during
brain development, and exert their roles by activating a cascade of multiple target genes …
brain development, and exert their roles by activating a cascade of multiple target genes …
Pathophysiological heterogeneity of the BBSOA neurodevelopmental syndrome
The formation and maturation of the human brain is regulated by highly coordinated
developmental events, such as neural cell proliferation, migration and differentiation. Any …
developmental events, such as neural cell proliferation, migration and differentiation. Any …
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations
ME Rech, JM McCarthy, CA Chen… - American Journal of …, 2020 - Wiley Online Library
Abstract Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal
dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and …
dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and …
Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome
M Bertacchi, A Gruart, P Kaimakis, C Allet… - EMBO molecular …, 2019 - embopress.org
Optic nerve atrophy represents the most common form of hereditary optic neuropathies
leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy …
leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy …