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Gene Information
Gene symbol: MKKS
Gene name: McKusick-Kaufman syndrome
HGNC ID: 7108
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | BBS1 | 1 hits |
| 2 | BBS2 | 1 hits |
| 3 | LEP | 1 hits |
| 4 | LEPR | 1 hits |
| 5 | STAT3 | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 12118255 | Cases of BBS mapping ro BBS6 are caused by mutations in MKKS; mutations in this gene also cause McKusick-Kaufman syndrome (hydrometrocolpos, post-axial polydactyly and congenital heart defects). |
| 2 | 15772095 | These observations suggest that the complete absence of MKKS leads to BBS while the MKS phenotype is likely to be due to specific mutations. |
| 3 | 20472660 | While overlap between the MKKS and BBS phenotypes has previously been reported for cases with BBS6 mutations, we also observed MKKS phenotypes involving BBS10 and BBS12 and Alström-like phenotypes associated with mutations in BBS1, BBS2, BBS6, BBS7, BBS9, BBS10 and BBS12 for the first time. |
| 4 | 19150989 | In addition, activation of hypothalamic STAT3 by leptin is significantly decreased in Bbs2(-/-), Bbs4(-/-) and Bbs6(-/-) mice. |
| 5 | 19150989 | In contrast, downstream melanocortin receptor signaling is unaffected, indicating that LepR signaling is specifically impaired in Bbs2(-/-), Bbs4(-/-) and Bbs6(-/-) mice. |