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TranscriptomicsChromosome conformation capture-on-chip analysis of long-range cis interactions of the SOX9 promoter
Transcription factor SOX9 is essential for the differentiation of chondrocytes and the development of testes. Heterozygous point mutations and genomic deletions involving SOX9 lead to campomelic dysplasia (CD) often associated with sex reversal. Chromosomal rearrangements with breakpoints mapping up...
ORGANISM(S): Homo sapiens 
2013-09-08 | E-GEOD-50449 | biostudies-arrayexpress
TranscriptomicsAnalyses of long-range interactions of the NR0B1 (DAX1) promoter using chromosome conformation capture-on-chip
Heterozygous point mutations or genomic deletions of NR0B1 in Xp21.2 result in congenital adrenal hypoplasia and hypogonadotropic hypogonadism, whereas the NR0B1 locus duplications in XY individuals lead to gonadal dysgenesis and a male-to-female dosage-sensitive sex reversal. We previously reported...
ORGANISM(S): Homo sapiens 
2014-12-24 | E-GEOD-64470 | biostudies-arrayexpress
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