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- Afzelius, Bjorn A., et al.
(author)
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Prevalence and genetics of immotile-cilia syndrome and left-handedness
- 2006
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In: International Journal of Developmental Biology. - : UPV/EHU Press. - 1696-3547 .- 0214-6282. ; 50:6, s. 571-573
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Journal article (peer-reviewed)abstract
- Immotile-cilia syndrome is characterized by severe respiratory distress from early infancy, and also often by situs inversus. The first description of the disease was based on just four persons, but reasons were given to suggest that the disorder may not be exceedingly rare. The purpose of the present study was to estimate just how rare or how common it is and to evaluate its association with situs inversus and with left-handedness. Data were mainly obtained from contacting a large number of Swedish clinicians who kindly informed us about their patients with suspected immotile-cilia syndrome. Diagnosis was in most cases performed by electron micro-scopical examination of nasal cilia or of spermatozoa. Based on these data, the prevalence of the syndrome in Sweden with or without situs inversus was estimated to be not far from 1 in 10,000. The syndrome consists of several subgroups that have a randomized determination of situs asymmetry (50% of these have situs inversus) and one subgroup in which situs inversus is not found. This results in a frequency of situs inversus in the syndrome of about 44%. Left-handedness is no more common than it is in healthy persons and no more often associated with situs inversus than with situs solitus. In all cases it is about 14%. It is concluded that the two major anatomical/physiological asymmetries of the human body are found with frequencies which indicate that they develop independently of each other. Both conditions appear with prevalences that may have changed at a secular scale, left-handedness with a substantial increase and situs inversus with a less dramatic increase.
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| 2. |
- Ahmad, Nafees, et al.
(author)
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Pitx3 directly regulates Foxe3 during early lens development.
- 2013
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In: The International journal of developmental biology. - : UPV/EHU Press. - 1696-3547 .- 0214-6282. ; 57, s. 741-751
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Journal article (peer-reviewed)abstract
- Pitx3 is a bicoid-related homeodomain transcription factor critical for the development of the ocular lens, mesencephalic dopaminergic neurons and skeletal muscle. In humans, mutations in PITX3 are responsible for cataracts and anterior segment abnormalities of varying degree; polymorphisms are associated with Parkinsons disease. In aphakia (ak) mice, two deletions in the promoter region of Pitx3 cause abnormal lens development. Here, we investigated systematically the role of Pitx3 in lens development including its molecular targets responsible for the ak phenotype. We have shown that ak lenses exhibit reduced proliferation and aberrant fiber cell differentiation. This was associated with loss of Foxe3 expression, complete absence of Prox1 expression, reduced expression of epsilon-tubulin and earlier expression of gamma-crystallin during lens development. Using EMSA and ChIP assays, we demonstrated that Pitx3 binds to an evolutionary conserved bicoid-binding site on the 5-upstream region of Foxe3. Finally, Pitx3 binding to 5-upstream region of Foxe3 increased transcriptional activity significantly in a cell-based reporter assay. Identification of Foxe3 as a transcriptional target of Pitx3 explains at least in part some of the phenotypic similarities of the ak and dyl mice (dysgenic lens, a Foxe3 allele). These findings enhance our understanding of the molecular cascades which subserve lens development.
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| 6. |
- Epperlein, HH, et al.
(author)
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Neural crest cell migration and pigment pattern formation in urodele amphibians
- 1996
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In: INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY. - : UNIV BASQUE COUNTRY PRESS. - 0214-6282. ; 40:1, s. 229-238
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Journal article (other academic/artistic)abstract
- This review deals with research on the development and differentiation of the neural crest (NC) in amphibians carried out during the past twenty years. First, earlier studies on the migration and differentiation of NC cells in vitro are summarized. These
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| 10. |
- Ferletta, Maria, et al.
(author)
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Canine mammary tumors contain cancer stem-like cells and form spheroids with an embryonic stem cell signature
- 2011
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In: International Journal of Developmental Biology. - : UPV/EHU Press. - 0214-6282 .- 1696-3547. ; 55:7-9, s. 791-799
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Journal article (peer-reviewed)abstract
- We have investigated the presence of tentative stem-like cells in the canine mammary tumor cell line CMT-U229. This cell line is established from an atypical benign mixed mammary tumor, which has the property of forming duct-like structures in collagen gels. Stem cells in mammary glands are located in the epithelium; therefore we thought that the CMT-U229 cell line would be suitable for detection of tentative cancer stem-like cells. Side population (SP) analyses by flow cytometry were performed with cells that formed spheroids and with cells that did not. Flow cytometric, single sorted cells were expanded and re-cultured as spheroids. The spheroids were paraffin embedded and characterized by immunohistochemistry. SP analyses showed that spheroid forming cells (retenate) as well as single cells (filtrate) contained SP cells. Sca1 positive cells were single cell sorted and thereafter the SP population increased with repeated SP analyses. The SP cells were positively labeled with the cell surface-markers CD44 and CD49f (integrin alpha6); however the expression of CD24 was low or negative. The spheroids expressed the transcription factor and stem cell marker Sox2, as well as Oct4. Interestingly, only peripheral cells of the spheroids and single cells were positive for Oct4 expression. SP cells are suggested to correspond to stem cells and in this study, we have enriched for tentative tumor stem-like cells derived from a canine mammary tumor. All the used markers indicate that the studied CMT-U229 cell line contains SP cells, which in particular have cancer stem-like cell characteristics.
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