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Data show that cis (show CISH Proteins)-regulatory elements driving Hoxd gene expression in distal limbs are present in fish.
Glra1 (show GLRA1 Proteins) receptor Beta8-Beta9 loop is an essential regulator of conformational rearrangements in ion channel opening and closing.
The age-associated accumulation of somatic mutations that occurs in the Nup98 (show NUP98 Proteins)-HOXD13 (NHD13) mouse model of leukemia progression was significantly elevated by co-expression of a PKR (show EIF2AK2 Proteins) transgene.
Shox2 (show SHOX2 Proteins) expression restricted to the proximal limb along with Hoxd9 (show HOXD9 Proteins) and Hoxa11 (show HOXA11 Proteins) expression, juxtaposing the distal expression of Hoxa13 (show HOXA13 Proteins) and Hoxd13.
Data indicate that loss of cyclin-dependent kinase inhibitor p15 (p15Ink4b (show CDKN2B Proteins)) collaborates with oncogene (show RAB1A Proteins) fusion protein Nup98 (show NUP98 Proteins)-HoxD13 transgene in the development of predominantly myeloid neoplasms.
study elucidated the mechanism underlying a novel missense mutation in HOXD13 (Q317K) associated with a complex hand and foot malformation phenotype; results show that the mutation results in a shift in the binding profile of the mutant toward a bicoid/PITX1 (show PITX1 Proteins) motif
providing synpolydactyly limb explant cultures with cells expressing either HOXD13 or WNT5A (show WNT5A Proteins) led to a non-cell autonomous partial rescue of cell polarity the perichondral region and restored the expression of perichondral markers.
a slight and transient deregulation of Hoxd13 expression can readily affect the relative lengths of limb segments during development
Mutation of a zinc-binding residue in the glycine receptor (show GLRB Proteins) alpha1 changes ethanol sensitivity in vitro and alcohol consumption in Glra1 (show GLRA1 Proteins)(D80A) knock-in mice.
TM3 (show TPM1 Proteins)-4 loop subdomains are important for functional reconstitution of glycine receptors by independent domains
findings show that expression of NUP98 (show NUP98 Proteins)-HOXD13 impairs class switch recombination and reduces the antibody-mediated immune response, in addition to its role in leukemia
a novel mutation causing truncation of HOXD13 protein was successfully identified as being associated with an atypical non-syndromic SPD phenotype in our study.
down-regulation of HOXD13 might be a potentially useful prognostic marker for patients with breast cancer.
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
HOXD13 methylation is a common event in primary breast cancer and is associated with poor survival of breast cancer patients.
A 27 bp expansion mutation in exon 1 of HOXD13 was associated with autosomal dominant synpolydactyly in a Chinese family.
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.
Identification of a novel c.659G>C (p.Gly220Ala) mutation outside the HOXD13 homeodomain responsible for synpolydactyly in a Chinese family.
A genome-wide array-comparative genomic hybridization (aCGH) analysis revealed global chromosomal aberration in MWCNTs-treated clones, predominantly at chromosome 2q31-32, where the potential oncogenes HOXD9 (show HOXD9 Proteins) and HOXD13 are located
Data indicate increased levels of reactive oxygen species (ROS (show ROS1 Proteins)) were detected in bone marrow nucleated cells (BMNC) that express CD71 (show TFRC Proteins) in in NUP98 (show NUP98 Proteins)-HOXD13 (NHD13) transgenic mice, a murine model for myelodysplastic syndromes (MDS (show PAFAH1B1 Proteins)).
Molecular characteristics of a HOXD13 synpolydactyly 1 nonsense mutation in a Chinese family.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly.
, homeobox gene D-13
, glycine receptor 48 kDa subunit
, glycine receptor strychnine-binding subunit
, glycine receptor subunit alpha-1
, homeobox protein Hox-D13
, homeo box 4I
, homeo box D13
, homeobox protein Hox-4I
, homeobox protein Hox-4.8
, homeobox protein Hox-4G
, homeobox protein hoxd13
, lung surfactant protein D
, pulmonary surfactant protein D
, pulmonary surfactant-associated protein D
, surfactant associated protein D
, surfactant, pulmonary-associated protein D