Publications by authors named "Izak J Bisschoff"
Article Synopsis
- Atopic dermatitis (AD) causes significant skin issues and itching, greatly affecting people's quality of life, yet many treatment needs remain unmet.
- A study involving 98 patients from Austria and Switzerland highlighted that most had moderate to severe AD and experienced issues like pruritus and multiple flares, with many reporting negative effects on sleep and mental health.
- The findings emphasize the ongoing challenges in AD management, including delays in diagnosis and the need for more effective therapies to enhance patient well-being.*
OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted as an X-linked condition with lethality in males. Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2). We have studied 55 sporadic and six familial cases of suspected OFD1.
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- - ATOH8 is a transcription factor important for developing systems like the nervous system and muscles, and its genetic analysis across 18 vertebrates and 24 invertebrates showed significant evolutionary changes in its sequence and structure over time.
- - The study found that the bHLH domain of vertebrate ATOH8 is highly conserved, with mammals showing unique features such as specific amino acids and a potential isoform not present in non-mammals.
- - Regulatory element analysis revealed a shift from TATA boxes to CpG islands in mammals, and human ATOH8's specific chromosomal location suggests its expression is controlled at a higher level, leading to differences in how ATOH8 functions across species and tissues.