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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: an autosomal recessive disorder. Four genes are associated with this condition and define different subtypes (1–4): DLL3 (delta-like 3), MESP2 (mesoderm posterior 2), LFNG (lunatic fringe), HES7 (hairy/enhancer of split, homolog of drosophila, 7). All these genes encode proteins involved in the notch-signalling pathway, crucial to normal somitogenesis. DLL3 is a notch ligand and is crucial in the cell-signalling processes which generate rostro–caudal somite boundary formation with a defined temporal periodicity driven by the molecular ‘segmentation clock’. MESP2 is a member of the basic helix-loop-helix (bHLH) family of transcriptional regulatory proteins. LFNG is a glycosyltransferase; it localises to the Golgi and post-translationally modifies the notch family receptors. Its expression is indirectly regulated by DLL3. HES7 encodes a bHLH-orange domain transcriptional repressor protein. In the mouse, HES genes are direct targets of notch and repress their own transcription through the interaction with their own promoters; due to their very short half-lives, cyclic waves of transcription are generated every 90–120 minutes. A rare form of SCD with autosomal dominant inheritance has been reported, the gene is still unknown.
Liver transcriptome analysis reveals biological pathways and transcription factors in response to high ammonia exposure
Published in Inhalation Toxicology, 2022
Daojie Li, Shuangzhao Chen, Chun Liu, Baoxing Wei, Xiaoping Li
TFs can regulate the expression levels of target genes by binding to corresponding regulatory elements. Therefore, we further identified TF encoding genes in DEGs. Interestingly, 54 DEGs were identified to be TF coding genes, with 44 up-regulated and 10 down-regulated (Table 2). Top 20 differentially expressed TF coding genes with higher log2(fold change) were highlighted in the volcano plot, including FOS, NR4A2, NR1D2, ATF3, KLF4, PROX1, JUNB, NR4A3, ATOH8, RORA, CSRNP1, NFE2L3, KLF12, REL, SOX5, MESP2, ZBTB10, ONECUT1, ZKSCAN8, and MGA (Figure 2). And among these TF coding genes, only ATOH8 and MESP2 showed decreased expression in the ammonia group.