Recombinant Human Ankyrin repeat domain-containing protein 11 (ANKRD11), partial

1. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. PMID: 28250421
2. exome sequencing identified a novel de novo heterozygous single base pair duplication (c.6015dupA) in ANKRD11, which is predicted to lead to a premature stop codon and loss of function in ANKRD11, thereby implicating it as contributing to the molecular diagnosis of KBG syndrome. PMID: 27900361
3. Here we report a large series of 39 patients with KBG syndrome; these patients harbored ANKRD11 mutations (20 cases) or deletions (19 cases). All the mutations were found by targeted molecular analysis on patients with clinical features suggestive of KBG. PMID: 27605097
4. Twelve novel cases of haploinsufficiency for ANKRD11-flanking genes make the difference between KBG and 16q24.3 microdeletion syndromes. PMID: 28422132
5. These findings point out the importance of screening ANKRD11 in young CdLS patients who were found to be negative for mutations in the five known CdLS genes. PMID: 25652421
6. Further delineation of the KBG syndrome phenotype on large patients cohort caused by ANKRD11 aberrations has been presented. PMID: 25424714
7. we conclude that severe short stature, intellectual disability, and macrodontia are the main characteristics in KBG syndrome related to ANKRD11 mutation PMID: 25464108
8. ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome. PMID: 25413698
9. AIB1, AIB1-delta4 and ANCO1 are important determinants of endocrine and growth factor responsiveness in breast cancer. PMID: 24678732
10. The complete neurological and psychiatric features observed in two patients with KBG syndrome due to ANKRD11 mutations, are reported. PMID: 23184435
11. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. PMID: 23494856
12. aberrant DNA methylation of three CpGs in a 19 bp region within the ANKRD11 promoter may be responsible for its down-regulation in breast cancer. PMID: 22538187
13. Mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function. PMID: 21782149
14. ANKRD11 is a candidate gene for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. PMID: 19920853
15. Together, these results indicate that the transcriptional potential of ANCO-1 may be modulated by a combination of repression and activation signals. PMID: 17521611
16. ANKRD11 has a role as a p53 coactivator and may be involved in a regulatory feedback loop with p53 PMID: 18840648

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HGNC: 21316

OMIM: 148050

KEGG: hsa:29123

STRING: 9606.ENSP00000301030

UniGene: Hs.335003