showed that the expression of HOXC13 increased whereas HOXD13 expression decreased as bone marrow-derived MSCs differentiated into osteoblasts during osteogenesis.
Among HOXD family members, HOXD10, HOXD11, HOXD13, and HOXD9 showed increased expression compared to the others (Figure 6(c)).
Other HOXD genes such as HOXD1, HOXD3, HOXD4, HOXD11, and HOXD13 had no effects or only partial effects on neuroblastoma cell proliferation or differentiation .
The correlations between HOXB9, HOXB13, and HOXD13 immunohistochemical expression levels and clinicopathological data were determined using Pearson's chi-squared test.
HOXB9, HOXB13, and HOXD13 in particular showed significant differences between LSCC and noncancerous margins (P < 0.001).
IHC (Immunohistochemistry) Detection of HOXB9, HOXB13, and HOXD13 in LSCC Tissue Chip.
The researchers wondered whether novel Hoxd13 control elements may have increased Hoxd13 gene expression in the past to cause similar effects during limb evolution.
"We found that in the zebrafish, the mouse Hoxd13 control element was capable of driving gene expression in the distal fin rudiment.
Missense mutations in R31 have been found in the human homeobox genes PITX2, MSXI, MSX2, LMX1B, and HOXD13 and are associated with 5 different developmental diseases: iridogoniodysgenesis syndrome, tooth agenesis, enlarged parietal foramina, nail-patella syndrome, and several digital anomalies, respectively (18, 19).
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
Existen tambien amplificaciones de la tripleta GCG que producen segmentos mas largos del aminoacido alanina en genes cuyas mutaciones causan diferentes padecimientos, en el sindrome del espasmo infantil se encuentra afectado el gen ARX, OMIM 308350; en la displasia cleidocraneal es el gen CBFA1, OMIM 119600; en el sindrome del epicantus inversus tipo 2 es el gen FOXL2, OMIM 110100; en el sindrome manos-pies y genitales es el gen HOXA13, OMIM 142959; en la poli-sindactilia se trata del gen HOXD13
, OMIM 142989 y en la holoprosencefalia 5 se trata del gen ZIC2, OMIM 603073 (Anonimo 2004).