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Mirror-image polydactyly 1

MIPOL1, Mirror image polydactyly, mirror-image polydactyly 1
This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010] (from NCBI)
Top mentioned proteins: HAD, V1a, CAN, en-1, HLA-DQB1
Papers on MIPOL1
Advances in the molecular genetics of non-syndromic polydactyly.
Yuan et al., Changsha, China. In Expert Rev Mol Med, 2014
To date, in human, at least ten loci and four disease-causing genes, including the GLI3 gene, the ZNF141 gene, the MIPOL1 gene and the PITX1 gene, have been identified.
Replication of genomewide associations with allergic sensitization and allergic rhinitis.
Cardell et al., Huddinge, Sweden. In Allergy, 2014
The association between genetic variation in the SSTR1-MIPOL1 and TSLP-SLC25A46 loci and age at onset is the first report of age at onset effects in allergic rhinitis.
Hypermethylation of EBF3 and IRX1 genes in synovial fibroblasts of patients with rheumatoid arthritis.
Kim et al., Taegu, South Korea. In Mol Cells, 2013
Thirteen genes (APEX1, EBF3, EGR2, EN1, IRX1, IRX6, KIF12, LHX2, MIPOL1, SGTA, SIN3A, TOLLIP, and ZHX2) with three consecutive hypermethylated probes were isolated as candidate genes through two CpG microarrays.
Both gene amplification and allelic loss occur at 14q13.3 in lung cancer.
Locker et al., New York City, United States. In Clin Cancer Res, 2011
The 1.2-Mb common region of deletion included MBIP, SFTA, TTF1, NKX2-8, PAX9, SLC25A21, and MIPOL1.
Chromosome 14 transfer and functional studies identify a candidate tumor suppressor gene, mirror image polydactyly 1, in nasopharyngeal carcinoma.
Lung et al., Hong Kong, Hong Kong. In Proc Natl Acad Sci U S A, 2009
Study provides compelling evidence that chromosome 14 harbors tumor suppressor genes associated with NPC and that a candidate gene, MIPOL1, is associated with tumor development.
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
Cox et al., Edmonton, Canada. In Eur J Hum Genet, 2003
Analysis of genomic sequences demonstrated that the breakpoint junction at 14q13 was within the third intron of the 5' untranslated region of the MIPOL1 gene (GI: 22048098).
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.
Yoshiura et al., Nagasaki, Japan. In J Hum Genet, 2001
candidate gene for mirror-image polydactyly of hands and feet anomaly. Maps to 14q13.
Laurin-Sandrow syndrome with additional associated manifestations.
Kantaputra, Chiang Mai, Thailand. In Am J Med Genet, 2001
Mirror image polydactyly of the toes was present.
Mirror foot.
Bloch et al., Cape Town, South Africa. In Plast Reconstr Surg, 2000
Mirror image polydactyly is a rare congenital abnormality that may occur in isolation, or in association with multiple congenital anomalies.
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