| Entry |
|
|---|
| Name |
Mutation-inactivated MEN1 to transcription
|
|---|
| Definition |
(MEN1*+KMT2A) // (CDKN1B,CDKN2C) |
|---|
| Expanded |
(4221v1+4297) // (1027,1031) |
|---|
| Class |
|
|---|
| Type |
Variant
|
|---|
| Pathway |
|
|---|
| Disease |
| H00247 | Multiple endocrine neoplasia syndrome |
| H00246 | Primary hyperparathyroidism |
| H01522 | Zollinger-Ellison syndrome |
|
|---|
| Gene |
| 4297 | KMT2A; lysine methyltransferase 2A |
| 1027 | CDKN1B; cyclin dependent kinase inhibitor 1B |
| 1031 | CDKN2C; cyclin dependent kinase inhibitor 2C |
|
|---|
| Variant |
|
|---|
| Reference |
|
|---|
| Authors |
Lecoq AL, Kamenicky P, Guiochon-Mantel A, Chanson P |
|---|
| Title |
Genetic mutations in sporadic pituitary adenomas--what to screen for? |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Wu X, Hua X |
|---|
| Title |
Menin, histone h3 methyltransferases, and regulation of cell proliferation: current knowledge and perspective. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Milne TA, Hughes CM, Lloyd R, Yang Z, Rozenblatt-Rosen O, Dou Y, Schnepp RW, Krankel C, Livolsi VA, Gibbs D, Hua X, Roeder RG, Meyerson M, Hess JL |
|---|
| Title |
Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Tsukada T, Nagamura Y, Ohkura N |
|---|
| Title |
MEN1 gene and its mutations: basic and clinical implications. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
