Congenital Duplication of the Palm in a Patient with Multiple Anomalies

2003 ◽  
Vol 28 (3) ◽  
pp. 276-279 ◽  
Author(s):  
M. M. AL-QATTAN

In 1995, Parr and McMahon described a syndrome of congenital duplication of footpads in mice which lacked a protein called ‘Wingless-type mouse mammary tumour virus integration site family member 7a” (Wnt-7a). This syndrome has not been described in humans and the following report describes a similar syndrome in a Saudi girl. The role of Wnt-7a in the development of the limb along the dorso-ventral axis is discussed, along with interaction between the Wnt-7a and other axes of limb growth.

2004 ◽  
Vol 75 (5) ◽  
pp. 832-843 ◽  
Author(s):  
Akio Kanazawa ◽  
Syuuichi Tsukada ◽  
Akihiro Sekine ◽  
Tatsuhiko Tsunoda ◽  
Atsushi Takahashi ◽  
...  

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Wei Xu ◽  
Jun Liang ◽  
H. F. Geng ◽  
Jun Lu ◽  
Rui Li ◽  
...  

Background. Emerging evidence suggests that T2DM is attributable to the dysfunction of β-cells and the activation of islet stellate cells (ISCs). The wingless-type MMTV integration site family member 5a (Wnt5a)/frizzled 5 (Fzd5) signalling pathway might take part in this process. Our study is aimed at defining the status of ISCs during β-cell insulin secretion homeostasis by determining the role of the Wnt5a protein in the regulation of insulin production. We examined the effects of the status of ISCs on β-cell insulin secretion in normoglycemic db/m and hyperglycaemic db/db mice. Methods. iTRAQ protein screening and RNA interference were used to determine novel ISC-derived secretory products that may use other mechanisms to influence the function of islets. Results. We showed a significant reduction in insulin secretion by β-cells in vitro when they were cocultured with db/db ISCs compared to when they were cocultured with ISCs isolated from normoglycemic db/m mice; in addition, both Wnt5a and its receptor Fzd5 were more highly expressed by quiescent ISCs than by activated db/db ISCs. Treatment with exogenous Wnt5a increased the secretion of insulin in association with the deactivation of ISCs. Conclusion. Our observations revealed that the Wnt5a protein is a key effector of ISC-mediated improvement in islet function.


Blood ◽  
1995 ◽  
Vol 85 (12) ◽  
pp. 3713-3718 ◽  
Author(s):  
JH Ohyashiki ◽  
K Ohyashiki ◽  
T Shimamoto ◽  
K Kawakubo ◽  
T Fujimura ◽  
...  

We investigated expression of the human ecotropic virus integration site-1 (EVI1) gene in patients with leukemia and myelodysplastic syndrome (MDS) using the reverse transcriptase-polymerase chain reaction (RT-PCR) method. The EVI1 transcripts were detected in 5 (10.0%) of 50 patients with de novo acute myeloid leukemia (AML), including two AML patients with trilineage myelodysplasia, and in 8 (34.8%) of 23 patients with post-myelodysplastic syndrome AML (post-MDS AML). EVI1 expression was also detected in 6 (35.3%) of 17 MDS patients and three of six patients with chronic myeloid leukemia (CML) in myelomegakaryoblast crisis. No EVI1 transcripts were detected in patients with acute lymphoid leukemia (n = 15) or CML in lymphoid blast crisis (n = 4). Chromosomal abnormalities at the 3q26 region, where the EVI1 gene is located, were found in one patient with MDS and two patients with CML myelomegakaryoblast crisis who had EVI1 expression. Our results showed that EVI1 expression was frequent in patients with post-MDS AML and AML with trilineage myelodysplasia, regardless of the presence or absence of 3q26 abnormalities. EVI1 expression was accompanied by expression of GATA-1 and GATA-2, and often by stem cell leukemia (SCL) gene expression. In patients with post-MDS AML, EVI1 expression was not always associated with a 3q26 abnormality, whereas EVI1 expression in CML myelomegakaryoblast crisis was often linked to a 3q26 abnormality. Our results suggest that the leukemogenic role of EVI1 expression may differ between post-MDS AML and leukemia, with EVI1 expression associated with a 3q26 abnormality.


1994 ◽  
Vol 3 (12) ◽  
pp. 2131-2136 ◽  
Author(s):  
Pauline van der Drift ◽  
Alvin Chan ◽  
Nadine van Roy ◽  
Geneviève Laureys ◽  
Andries Westerveld ◽  
...  

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