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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …