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Branchiootic Syndrome 3

mutation in SIX1

Also Known As:

BO Syndrome 3; BOS3

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Branchio-Oto-Renal Syndrome: 46
      - Branchiootic Syndrome 3: 2
  - Chromosome Disorders: 136
    - Branchio-Oto-Renal Syndrome: 46
      - Branchiootic Syndrome 3: 2
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Branchio-Oto-Renal Syndrome: 46
      - Branchiootic Syndrome 3: 2

Related Diseases

1.	Branchiootic Syndrome 3
2.	Branchiootic Syndrome 2

Experts

1.	Jiang, R: 1 article (01/2019)
2.	Lan, Y: 1 article (01/2019)
3.	Li, C: 1 article (01/2019)
4.	Li, X: 1 article (01/2019)
5.	Liu, H: 1 article (01/2019)
6.	Liu, Z: 1 article (01/2019)
7.	Maire, P: 1 article (01/2019)
8.	Wang, X: 1 article (01/2019)
9.	Xu, J: 1 article (01/2019)
10.	Bluhm, Burton: 1 article (11/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Branchiootic Syndrome 3:

1.	DefensinsIBA 11/01/2004 - "Expression of the plant defensin gene PDF1-2 was generally lower in bos mutants compared with wild-type plants, with a particularly strong reduction in bos3. "
2.	Salicylic Acid (2 Hydroxybenzoic Acid)FDA LinkGeneric 11/01/2004 - "The Pathogenesis Related gene 1 (PR-1), a molecular marker of the salicylic acid (SA)-dependent resistance pathway, shows a wild-type pattern of expression in bos2, while in bos3 this gene was expressed at elevated levels, both constitutively and in response to pathogen challenge. "
3.	Transcription Factors (Transcription Factor)IBA 01/01/2019 - "SIX1 and SIX2 encode closely related transcription factors of which disruptions have been associated with distinct craniofacial syndromes, with mutations in SIX1 associated with branchiootic syndrome 3 (BOS3) and heterozygous deletions of SIX2 associated with frontonasal dysplasia defects. "
4.	camalexinIBA 11/01/2004 - "The bos2 and bos4 mutants accumulate reduced levels of camalexin whereas bos3 accumulates significantly higher levels of camalexin than wild-type plants in response to B. " 11/01/2004 - "The BOS2, BOS3, and BOS4 loci may affect camalexin levels and responsiveness to ethylene and jasmonate. "
5.	ethyleneIBA 11/01/2004 - "The BOS2, BOS3, and BOS4 loci may affect camalexin levels and responsiveness to ethylene and jasmonate. "
6.	jasmonic acid (jasmonate)IBA 11/01/2004 - "The BOS2, BOS3, and BOS4 loci may affect camalexin levels and responsiveness to ethylene and jasmonate. "