Molecular control of oligodendrocyte development

B Elbaz, B Popko - Trends in neurosciences, 2019 - cell.com
Myelin is a multilayer lipid membrane structure that wraps and insulates axons, allowing for
the efficient propagation of action potentials. During developmental myelination of the …

Genetics of 46, XY gonadal dysgenesis

M Elzaiat, K McElreavey, A Bashamboo - Best Practice & Research Clinical …, 2022 - Elsevier
In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …

Using the lineage determinants Olig2 and Sox10 to explore transcriptional regulation of oligodendrocyte development

E Sock, M Wegner - Developmental neurobiology, 2021 - Wiley Online Library
The transcription factors Olig2 and Sox10 jointly define oligodendroglial identity. Because of
their continuous presence during development and in the differentiated state they shape the …

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

H Qi, L Yu, X Zhou, J Wynn, H Zhao, Y Guo, N Zhu… - PLoS …, 2018 - journals.plos.org
Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by
other congenital anomalies. Previous exome sequencing studies for CDH have supported a …

Myrf guides target gene selection of transcription factor Sox10 during oligodendroglial development

J Aprato, E Sock, M Weider, O Elsesser… - Nucleic acids …, 2020 - academic.oup.com
Oligodendrocytes generate myelin in the vertebrate central nervous system and thus ensure
rapid propagation of neuronal activity. Their development is controlled by a network of …

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

SJ Garnai, ML Brinkmeier, B Emery, TS Aleman… - PLoS …, 2019 - journals.plos.org
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes
with relatively normal anatomy, a high hyperopic refractive error, and frequent association …

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

LZ Rossetti, K Glinton, B Yuan, P Liu… - American journal of …, 2019 - Wiley Online Library
The myelin regulatory factor gene (MYRF) encodes a transcription factor that is widely
expressed. There is increasing evidence that heterozygous loss‐of‐function variants in …

Insights into white matter defect in Huntington's disease

Y Sun, H Tong, T Yang, L Liu, XJ Li, S Li - Cells, 2022 - mdpi.com
Huntington's disease (HD) is an autosomal-dominant inherited progressive
neurodegenerative disorder. It is caused by a CAG repeat expansion in the Huntingtin gene …

Monogenic forms of DSD: An update

K McElreavey, A Bashamboo - Hormone Research in Paediatrics, 2023 - karger.com
Background: DSD encompass a wide range of pathologies that impact gonad formation,
development, and function in both 46, XX and 46, XY individuals. The majority of these …

Interactive repression of MYRF self-cleavage and activity in oligodendrocyte differentiation by TMEM98 protein

H Huang, P Teng, J Du, J Meng, X Hu… - Journal of …, 2018 - Soc Neuroscience
Myelin sheath formed by oligodendrocytes (OLs) is essential for the rapid propagation of
action potentials in the vertebrate CNS. Myelin regulatory factor (MYRF) is one of the critical …