Article
Healing a natural knockout of epithelial organogenesis.
Dept of Biosciences at Novum and Clinical Research Centre, Karolinska Institute, 14157 Huddinge, Sweden.
Trends in Molecular Medicine (impact factor:
10.35).
06/2002;
8(5):197-200.
DOI:10.1016/S1471-4914(02)02342-0
Source: PubMed
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Citations (0)
- Cited In (2)
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Article: Susceptibility loci for preeclampsia on chromosomes 2p25 and 9p13 in Finnish families.
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ABSTRACT: Preeclampsia is a common, pregnancy-specific disorder characterized by reduced placental perfusion, endothelial dysfunction, elevated blood pressure, and proteinuria. The pathogenesis of this heterogeneous disorder is incompletely understood, but it has a familial component, which suggests that one or more common alleles may act as susceptibility genes. We hypothesized that, in a founder population, the genetic background of preeclampsia might also show reduced heterogeneity, and we have performed a genomewide scan in 15 multiplex families recruited predominantly in the Kainuu province in central eastern Finland. We found two loci that exceeded the threshold for significant linkage: chromosome 2p25, near marker D2S168 (nonparametric linkage [NPL] score 3.77; P=.000761) at 21.70 cM, and 9p13, near marker D9S169 (NPL score 3.74; P=.000821) at 38.90 cM. In addition, there was a locus showing suggestive linkage at chromosome 4q32 between D4S413 and D4S3046 (NPL score 3.13; P=.003238) at 163.00 cM. In the present study the susceptibility locus on chromosome 2p25 is clearly different (21.70 cM) from the locus at 2p12 found in an Icelandic study (94.05 cM) and the locus at 2q23 (144.7 cM) found in an Australian/New Zealand study. The locus at 9p13 has been shown to be a candidate region for type 2 diabetes in two recently published genomewide scans from Finland and China. The regions on chromosomes 2p25 and 9p13 may harbor susceptibility genes for preeclampsia.The American Journal of Human Genetics 02/2003; 72(1):168-77. · 10.60 Impact Factor -
Article: The role of tumor necrosis factor receptor superfamily members in mammalian brain development, function and homeostasis.
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ABSTRACT: Tumor necrosis factor receptor superfamily (TNFRSF) members were initially identified as immunological mediators, and are still commonly perceived as immunological molecules. However, our understanding of the diversity of TNFRSF members' roles in mammalian physiology has grown significantly since the first discovery of TNFRp55 (TNFRSF1) in 1975. In particular, the last decade has provided evidence for important roles in brain development, function and the emergent field of neuronal homeostasis. Recent evidence suggests that TNFRSF members are expressed in an overlapping regulated pattern during neuronal development, participating in the regulation of neuronal expansion, growth, differentiation and regional pattern development. This review examines evidence for non-immunological roles of TNFRSF members in brain development, function and maintenance under normal physiological conditions. In addition, several aspects of brain function during inflammation will also be described, when illuminating and relevant to the non-immunological role of TNFRSF members. Finally, key questions in the field will be outlined.Reviews in the neurosciences 08/2011; 22(5):509-33. · 2.41 Impact Factor
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Keywords
dissect novel developmental pathways
Ectodermal dysplasias
molecular level
new genes
rare genetic disorders
X-linked anhidrotic ectodermal dysplasia