Recombinant Human Homeobox protein Hox-D13 (HOXD13)

1. The results suggest that the c.917G>A (p.R306Q) mutation in the HOXD13 gene, may be responsible for syndactyly type Ic in this family. PMID: 28498426
2. a novel mutation causing truncation of HOXD13 protein was successfully identified as being associated with an atypical non-syndromic SPD phenotype in our study. PMID: 27254532
3. down-regulation of HOXD13 might be a potentially useful prognostic marker for patients with breast cancer. PMID: 26617867
4. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. PMID: 26581570
5. HOXD13 methylation is a common event in primary breast cancer and is associated with poor survival of breast cancer patients. PMID: 26617782
6. A 27 bp expansion mutation in exon 1 of HOXD13 was associated with autosomal dominant synpolydactyly in a Chinese family. PMID: 26252089
7. Linkage analysis of the syndactyly type 1 subtype c (SD1-c) phenotype based on two Chinese families with 3/4 fingers syndactyly shows that two missense mutations in codon 306 of HOXD13 underlie SD1-c. PMID: 24789103
8. Identification of a novel c.659G>C (p.Gly220Ala) mutation outside the HOXD13 homeodomain responsible for synpolydactyly in a Chinese family. PMID: 23948678
9. Data indicate increased levels of reactive oxygen species (ROS) were detected in bone marrow nucleated cells (BMNC) that express CD71 in in NUP98-HOXD13 (NHD13) transgenic mice, a murine model for myelodysplastic syndromes (MDS). PMID: 23958061
10. Molecular characteristics of a HOXD13 synpolydactyly 1 nonsense mutation in a Chinese family. PMID: 24055421
11. findings show that expression of NUP98-HOXD13 impairs class switch recombination and reduces the antibody-mediated immune response, in addition to its role in leukemia PMID: 22613470
12. Misexpression of HOXD13(G11A) in the developing chick limb phenocopied the human SPD phenotype PMID: 22373878
13. This finding expands the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development. PMID: 22374128
14. Correlation between Synpolydactyly and alanine expansion in HOXD13. PMID: 22406499
15. HOXD13 gene mutation was responsible for the synpolydactyly (SPD) phenotype in this family. PMID: 22161087
16. results show the first nonsense mutation in the HOXD13 gene underlying a severe form of SPD in the homozygous state, and a milder form of SPD with approximately 50% penetrance in the heterozygous state. PMID: 21814222
17. a duplication mutation, c. 186-212dup, in exon 1 of the HOXD13 gene in the affected individuals in a Chinese family with unusual clinical manifestations of synpolydactyly PMID: 20974300
18. Variable skeletal phenotype in 2q31 deletion patients is a result of hemizygosity for the HOXD genes. PMID: 21068127
19. results expand the spectrum of HOXD13 mutations;suggest that not only the size of the polyalanine repeat but also other unknown factors might play a role in synpolydactyly PMID: 19686284
20. Data show that a mutant HOXD13 protein that recognizes only a subset of sites recognized by the wild-type protein causes a novel human limb malformation. PMID: 12620993
21. Missense mutations in this protein are associated with brachydactyly types D and E. PMID: 12649808
22. This is the first report on prenatal diagnosis of Synpolydactyly by detecting the HOXD13 polyalanine expansion in the Han population of the Chinese mainland. PMID: 15696469
23. Results suggest that synpolydactyly in this kindred may be caused by polyalanine expansion in HOXD13. PMID: 15952114
24. Data show that HOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus. PMID: 16331564
25. There is a link between HOXD13 and two additional limb phenotypes--syndactyly type V and brachydactyly type A4--and demonstrated that a polyalanine contraction in HOXD13, most likely, led to other digital anomalies but not to synpolydactyly. PMID: 17236141
26. findings strongly suggest that specific mutations in HOXD13 gene may cause both hypoplastic synpolydactyly and hypospadias PMID: 17656229
27. Early human development shows spatiotemporal differences of HOXD13 expression in the endodermal and mesodermal structures. PMID: 17853405
28. We showed that SPD1 phenotype segregates with an identical expansion mutation of 21 bp in HOXD13. We show that HOXD13 polyalanine repeat is polymorphic, and the expansion of 2 alanine residues, is without clinical consequences. PMID: 18072967
29. The results shows that HOXD13 gene mutation was not involved in outbreak in idiopathic congenital talipes equinovarus, but changes of HOXD13 and FHL1 gene expression related to the development of talipes equinovarus malformation. PMID: 18244901
30. analysis of HOXD13 in 100 patients with limb malformations; 7 novel mutations in the coding region & 2 novel mutations in the 5'-untranslated region were identified PMID: 18399101
31. transgenic mice expressing NUP98-HOXD13 (NHD13) fusion gene develop myelodysplastic syndrome, and more than half eventually progress to acute leukemia PMID: 18566322
32. Hoxd13 and Fhl1 were expressed in the interdigital tissues of E12.5 rat embryo. Luciferase assay and EMSA identified a novel promoter region of Fhl1 that directly interacts with Hoxd13 PMID: 18758158
33. G220V missense mutation of HOXD13 caused synpolydactyly in a Greek family. PMID: 19060004
34. Detection of the HOXD13 homeoprotein in pancreas-tissue microarrays shows that its negative expression has a significant and adverse effect on the prognosis of patients with pancreatic cancer. PMID: 19488988
35. Geminin, which interacts with HOXD13 as well, blocks HOXD13-mediated assembly of pre-replication complex proteins and inhibits HOXD13-induced DNA replication. PMID: 19703996
36. Gene Structure and Report of Nine Polyalanine Duplications in Families with Synpolydactyly, Type II PMID: 8817328

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HGNC: 5136

OMIM: 113200

KEGG: hsa:3239

STRING: 9606.ENSP00000376322

UniGene: Hs.152414