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The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anemia. TTD-associated mutations typically cause unstable mutant proteins involved ...
ORGANISM(S): Homo sapiens (Human) 
2023-08-09 | PXD044434 | Pride
The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anemia. TTD-associated mutations typically cause unstable mutant proteins involved ...
ORGANISM(S): Homo sapiens (Human) 
2023-08-25 | PXD044779 | Pride
RNA-seq of primary fibroblasts from TTD patient and control
ORGANISM(S): Homo sapiens 
Background and Aims: Telomere dysfunction can increase tumor initiation by induction of chromosomal instability, but initiated tumor cells need to reactivate telomerase for genome stabilization and tumor progression. However, this concept has not been proven in vivo since appropriate mouse models we...
ORGANISM(S): Mus musculus 
Ribosome biogenesis is a highly energy-demanding process in eukaryotes which requires the concerted action of all three RNA polymerases. In RNA polymerase II transcription, the general transcription factor TFIIH is recruited by TFIIE to the initiation site of protein-coding genes. Distinct mutations...
ORGANISM(S): Homo sapiens (Human) 
2021-11-16 | PXD023451 | Pride
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