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  • Articles  (34)
  • 2020-2023
  • 2010-2014  (32)
  • 2000-2004  (2)
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  • Human Molecular Genetics  (8)
  • Nature Climate Change  (5)
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  • 1
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    Estimated carbon dioxide emissions from tropical deforestation improved by carbon-density maps (2012)
    Springer Nature
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    Publication Date: 2012-02-25
    Description: Estimated carbon dioxide emissions from tropical deforestation improved by carbon-density maps Nature Climate Change 2, 182 29012012 doi: 10.1038/nclimate1354 A. Baccini S. J. Goetz W. S. Walker N. T. Laporte M. Sun D. Sulla-Menashe J. Hackler P. S. A. Beck R. Dubayah M. A. Friedl S. Samanta R. A. Houghton Deforestation contributes 6–17% of anthropogenic carbon dioxide emissions. However, much uncertainty in the calculation of deforestation emissions stems from the inadequacy of forest carbon-density and deforestation data. Now an analysis provides the most-detailed estimate so far of the carbon density of vegetation and the associated carbon dioxide emissions from deforestation for ecosystems across the tropics.
    Print ISSN: 1758-678X
    Electronic ISSN: 1758-6798
    Topics: Geosciences
    Published by Springer Nature
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  • 2
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    Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice (2013)
    Oxford University Press
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    Publication Date: 2013-02-02
    Description: Congenital diaphragmatic hernia (CDH) is a common life-threatening birth defect. Recessive mutations in the FRAS1-related extracellular matrix 1 ( FREM1 ) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH. We have identified a female child with an isolated left-sided posterolateral CDH covered by a membranous sac who had no features suggestive of BNAR or MOTA syndromes. This child carries a maternally-inherited ~86 kb FREM1 deletion that affects the expression of FREM1 's full-length transcripts and a paternally-inherited splice site mutation that causes activation of a cryptic splice site, leading to a shift in the reading frame and premature termination of all forms of the FREM1 protein. This suggests that recessive FREM1 mutations can cause isolated CDH in humans. Further evidence for the role of FREM1 in the development of CDH comes from an N -ethyl- N -nitrosourea -derived mouse strain, eyes2 , which has a homozygous truncating mutation in Frem1. Frem1 eyes2 mice have eye defects, renal agenesis and develop retrosternal diaphragmatic hernias which are covered by a membranous sac. We confirmed that Frem1 is expressed in the anterior portion of the developing diaphragm and found that Frem1 eyes2 embryos had decreased levels of cell proliferation in their developing diaphragms when compared to wild-type embryos. We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH in both humans and mice.
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
    Published by Oxford University Press
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  • 3
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    Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1 (2012)
    Oxford University Press
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    Publication Date: 2012-08-28
    Description: Recurrent microdeletions of 8p23.1 that include GATA4 and SOX7 confer a high risk of both congenital diaphragmatic hernia (CDH) and cardiac defects. Although GATA4-deficient mice have both CDH and cardiac defects, no humans with cardiac defects attributed to GATA4 mutations have been reported to have CDH. We were also unable to identify deleterious GATA4 sequence changes in a CDH cohort. This suggested that haploinsufficiency of another 8p23.1 gene may contribute, along with GATA4 , to the development of CDH. To determine if haploinsufficiency of SOX7 —another transcription factor encoding gene—contributes to the development of CDH, we generated mice with a deletion of the second exon of Sox7 . A portion of these Sox7 ex2/+ mice developed retrosternal diaphragmatic hernias located in the anterior muscular portion of the diaphragm. Anterior CDH is also seen in Gata4 +/– mice and has been described in association with 8p23.1 deletions in humans. Immunohistochemistry revealed that SOX7 is expressed in the vascular endothelial cells of the developing diaphragm and may be weakly expressed in some diaphragmatic muscle cells. Sox7 ex2/ex2 embryos die prior to diaphragm development with dilated pericardial sacs and failure of yolk sac remodeling suggestive of cardiovascular failure. Similar to our experience screening GATA4 , no clearly deleterious SOX7 sequence changes were identified in our CDH cohort. We conclude that haploinsufficiency of Sox7 or Gata4 is sufficient to produce anterior CDH in mice and that haploinsufficiency of SOX7 and GATA4 may each contribute to the development of CDH in individuals with 8p23.1 deletions.
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    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
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  • 4
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    Renegotiating the global climate stabilization target (2014)
    Springer Nature
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    Publication Date: 2014-08-28
    Description: Climate policy has gained focus with the adoption of the 2 °C target, but action to avoid dangerous climate change has not occurred as expected. It is time to reconsider the target, and most importantly, the relationship between climate science and policy. Nature Climate Change 4 747 doi: 10.1038/nclimate2309
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    Topics: Geosciences
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  • 5
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    Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa (2014)
    Oxford University Press
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    Publication Date: 2014-06-10
    Description: In humans, the Crumbs homolog-1 ( CRB1 ) gene is mutated in autosomal recessive Leber congenital amaurosis and early-onset retinitis pigmentosa. In mammals, the Crumbs family is composed of: CRB1, CRB2, CRB3A and CRB3B. Recently, we showed that removal of mouse Crb2 from retinal progenitor cells, and consequent removal from Müller glial and photoreceptor cells, results in severe and progressive retinal degeneration with concomitant loss of retinal function that mimics retinitis pigmentosa due to mutations in the CRB1 gene. Here, we studied the effects of cell-type-specific loss of CRB2 from the developing mouse retina using targeted conditional deletion of Crb2 in photoreceptors or Müller cells. We analyzed the consequences of targeted loss of CRB2 in the adult mouse retina using adeno-associated viral vectors encoding Cre recombinase and short hairpin RNA against Crb2. In vivo retinal imaging by means of optical coherence tomography on retinas lacking CRB2 in photoreceptors showed progressive thinning of the photoreceptor layer and cellular mislocalization. Electroretinogram recordings under scotopic conditions showed severe attenuation of the a-wave, confirming the degeneration of photoreceptors. Retinas lacking CRB2 in developing photoreceptors showed early onset of abnormal lamination, whereas retinas lacking CRB2 in developing Müller cells showed late onset retinal disorganization. Our data suggest that in the developing retina, CRB2 has redundant functions in Müller glial cells, while CRB2 has essential functions in photoreceptors. Our data suggest that short-term loss of CRB2 in adult mouse photoreceptors, but not in Müller glial cells, causes sporadic loss of adhesion between photoreceptors and Müller cells.
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    Topics: Biology , Medicine
    Published by Oxford University Press
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  • 6
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    Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa (2012)
    Oxford University Press
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    Publication Date: 2012-09-28
    Description: Retinitis pigmentosa (RP) is a group of genetically heterogeneous, severe retinal diseases commonly leading to legal blindness. Mutations in the CNGB1a subunit of the rod cyclic nucleotide-gated (CNG) channel have been found to cause RP in patients. Here, we demonstrate the efficacy of gene therapy as a potential treatment for RP by means of recombinant adeno-associated viral (AAV) vectors in the CNGB1 knockout (CNGB1 –/– ) mouse model. To enable efficient packaging and rod-specific expression of the relatively large CNGB1a cDNA (~4 kb), we used an AAV expression cassette with a short rod-specific promoter and short regulatory elements. After injection of therapeutic AAVs into the subretinal space of 2-week-old CNGB1 –/– mice, we assessed the restoration of the visual system by analyzing (i) CNG channel expression and localization, (ii) retinal function and morphology and (iii) vision-guided behavior. We found that the treatment not only led to expression of full-length CNGB1a, but also restored normal levels of the previously degraded CNGA1 subunit of the rod CNG channel. Both proteins co-localized in rod outer segments and formed regular CNG channel complexes within the treated area of the CNGB1 –/– retina, leading to significant morphological preservation and a delay of retinal degeneration. In the electroretinographic analysis, we also observed restoration of rod-driven light responses. Finally, treated CNGB1 –/– mice performed significantly better than untreated mice in a rod-dependent vision-guided behavior test. In summary, this work provides a proof-of-concept for the treatment of rod channelopathy-associated RP by AAV-mediated gene replacement.
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    Topics: Biology , Medicine
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  • 7
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    Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene (2012)
    Oxford University Press
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    Publication Date: 2012-12-15
    Description: In humans, the Crumbs homolog-1 ( CRB1 ) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. However, there is no clear genotype–phenotype correlation for CRB1 mutations, which suggests that other components of the CRB complex may influence the severity of retinal disease. Therefore, to understand the physiological role of the Crumbs complex proteins, we generated and analysed conditional knockout mice lacking CRB2 in the developing retina. Progressive disorganization was detected during late retinal development. Progressive thinning of the photoreceptor layer and sites of cellular mislocalization was detected throughout the CRB2-deficient retina by confocal scanning laser ophthalmoscopy and spectral domain optical coherence tomography. Under scotopic conditions using electroretinography, the attenuation of the a-wave was relatively stronger than that of the b-wave, suggesting progressive degeneration of photoreceptors in adult animals. Histological analysis of newborn mice showed abnormal lamination of immature rod photoreceptors and disruption of adherens junctions between photoreceptors, Müller glia and progenitor cells. The number of late-born progenitor cells, rod photoreceptors and Müller glia cells was increased, concomitant with programmed cell death of rod photoreceptors. The data suggest an essential role for CRB2 in proper lamination of the photoreceptor layer and suppression of proliferation of late-born retinal progenitor cells.
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    Topics: Biology , Medicine
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  • 8
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    Exploring the genetic basis of chronic periodontitis: a genome-wide association study (2013)
    Oxford University Press
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    Publication Date: 2013-05-14
    Description: Chronic periodontitis (CP) is a common oral disease that confers substantial systemic inflammatory and microbial burden and is a major cause of tooth loss. Here, we present the results of a genome-wide association study of CP that was carried out in a cohort of 4504 European Americans (EA) participating in the Atherosclerosis Risk in Communities (ARIC) Study (mean age—62 years, moderate CP—43% and severe CP—17%). We detected no genome-wide significant association signals for CP; however, we found suggestive evidence of association ( P 〈 5 x 10 –6 ) for six loci, including NIN , NPY , WNT5A for severe CP and NCR2 , EMR1 , 10p15 for moderate CP. Three of these loci had concordant effect size and direction in an independent sample of 656 adult EA participants of the Health, Aging, and Body Composition (Health ABC) Study. Meta-analysis pooled estimates were severe CP ( n = 958 versus health: n = 1909)— NPY , rs2521634 [G]: odds ratio [OR = 1.49 (95% confidence interval (CI = 1.28–1.73, P = 3.5 x 10 –7 ))]; moderate CP ( n = 2293)— NCR2 , rs7762544 [G]: OR = 1.40 (95% CI = 1.24–1.59, P = 7.5 x 10 –8 ), EMR1 , rs3826782 [A]: OR = 2.01 (95% CI = 1.52–2.65, P = 8.2 x 10 –7 ). Canonical pathway analysis indicated significant enrichment of nervous system signaling, cellular immune response and cytokine signaling pathways. A significant interaction of NUAK1 (rs11112872, interaction P = 2.9 x 10 –9 ) with smoking in ARIC was not replicated in Health ABC, although estimates of heritable variance in severe CP explained by all single nucleotide polymorphisms increased from 18 to 52% with the inclusion of a genome-wide interaction term with smoking. These genome-wide association results provide information on multiple candidate regions and pathways for interrogation in future genetic studies of CP.
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    Topics: Biology , Medicine
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  • 9
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    Shifts in Arctic vegetation and associated feedbacks under climate change (2013)
    Springer Nature
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    Publication Date: 2013-06-26
    Description: This study shows that climate change could lead to a major redistribution of vegetation across the Arctic, with important implications for biosphere–atmosphere interactions, as well as for biodiversity conservation and ecosystem services. Woody vegetation is predicted to expand substantially over coming decades, causing more Arctic warming through positive climate feedbacks than previously thought. Nature Climate Change 3 673 doi: 10.1038/nclimate1858
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    Topics: Geosciences
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  • 10
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    Curcumin facilitates a transitory cellular stress response in Trembler-J mice (2013)
    Oxford University Press
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    Publication Date: 2013-11-08
    Description: We have previously shown that oral administration of curcumin significantly decreases the percentage of apoptotic Schwann cells and partially mitigates the severe neuropathy phenotype of the Trembler-J ( Tr-J ) mouse model in a dose-dependent manner. Here we compared the gene expression in sciatic nerves of 2-week-old pups and adult Tr-J with the same age groups of wild-type mice and found a significant increase in gene expression for hypoxia, inflammatory response and heat-shock proteins, the latter specifically the Hsp70 family, in Tr-J mice. We also detected an activation of different branches of unfolded protein responses (UPRs) in Tr-J mice . Administering curcumin results in lower expression of UPR markers suggesting it relieves endoplasmic reticulum (ER) cell stress sensors in sciatic nerves of Tr-J mice while the level of heat-shock proteins stays comparable to untreated Tr-J mice. We further tested if Hsp70 levels could influence the severity of the Tr-J neuropathy. Notably, reduced dosage of the Hsp70 strongly potentiates the severity of the Tr-J neuropathy, though the absence of Hsp70 had little effect in wild-type mice. In aggregate, these data provide further insights into the pathological disease mechanisms caused by myelin gene mutations and further support the exploration of curcumin as a therapeutic approach for selected forms of inherited neuropathy and potentially for other genetic diseases due to ER-retained mutants.
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    Topics: Biology , Medicine
    Published by Oxford University Press
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