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Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
TLDR
Analysis of families carrying the PGL1 gene revealed germ line mutations in the SDHD gene, which indicates that mitochondria play an important role in the pathogenesis of certain tumors and that cybS plays a role in normal CB physiology.
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Estimating African American admixture proportions by use of population-specific alleles.
TLDR
Significant nonrandom association between two markers located 22 cM apart (FY-null and AT3) is detected, most likely due to admixture linkage disequilibrium created in the interbreeding of the two parental populations, emphasize the importance of admixed populations as a useful resource for mapping traits with different prevalence in two parental population.
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Lymphatic endothelial reprogramming of vascular endothelial cells by the Prox‐1 homeobox transcription factor
TLDR
It is found that isolated human primary lymphatic and blood vascular endothelial cells show interesting differences in gene expression relevant for their distinct functions in vivo, and overexpression of the homeobox transcription factor Prox‐1 in the BECs is suggested to act as a cell proliferation inducer and a fate determination factor for the LECs.
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Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis
TLDR
The data show that Foxc2 is essential for the morphogenesis of lymphatic valves and the establishment of a pericyte-free lymphatic capillary network and that it cooperates with Vegfr3 in the latter process.
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A model for gene therapy of human hereditary lymphedema
TLDR
By using virus-mediated VEGF-C gene therapy, the results suggest that growth factor gene therapy is applicable to human lymphedema and provide a paradigm for other diseases associated with mutant receptors.
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A novel measure of genetic distance for highly polymorphic tandem repeat loci.
TLDR
A measure of genetic distance, DSW, which is appropriate for the analysis of highly polymorphic DNA loci, and the applicability of DSW to evolutionary analysis is demonstrated by reconstructing the relationships among eight human populations using 14 microsatellite and STR loci.
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Susceptibility genes for age-related maculopathy on chromosome 10q26.
TLDR
The combination of the analyses strongly implicates PLEKHA1/LOC387715 as primarily responsible for the evidence of linkage of ARM to the 10q26 locus and as a major contributor to ARM susceptibility.
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Deficiency of subsarcolemmal mitochondria in obesity and type 2 diabetes.
TLDR
Although mtDNA was lower in type 2 diabetic and obese subjects, the decrement in electron transport chain activity was proportionately greater, indicating functional impairment, which may contribute to the pathogenesis of muscle insulin resistance in type 1 diabetes.
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Ethnic-affiliation estimation by use of population-specific DNA markers.
TLDR
Through a search of the literature and of unpublished data on allele frequencies, a panel of population-specific genetic markers are identified that enable robust ethnic-affiliation estimation for major U.S. resident populations and it is demonstrated that this panel of markers provides significant statistical power for ethnic-Affiliation estimation.
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Distribution of the four founding lineage haplotypes in Native Americans suggests a single wave of migration for the New World.
The distribution of the four founding lineage haplogroups in Native Americans from North, Central, and South America shows a north to south increase in the frequency of lineage B and a North to South…
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