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JCI early table of contents for April 8, 2013

2013-04-08
(Press-News.org) Protecting against aging at the molecular level

High fidelity DNA replication during each cycle of cell division is required to maintain genomic stability and prevent chromosomal mutations and rearrangements that can cause disease and aging. Mutations in ATRX, a gene that encodes a protein that participates in DNA replication, are associated with X-linked mental retardation, various cancers, and developmental disorders, but the cellular functions of ATRX are still unclear. In this issue of the Journal of Clinical Investigation, researchers led by Nathalie Bérubé at the University of Western Ontario report on the effects of Atrx deficiency in mice. Using neural precursor cells (NPCs) from Atrx-deficient mice, Bérubé and colleagues found that loss of ATRX is associated with increased DNA damage. Additionally, mice lacking neural Atrx exhibited systemic endocrine dysfunction, shortened lifespans, and degenerative phenotypes similar to human premature aging disorders. These studies demonstrate that ATRX plays a critical role in maintaining the integrity of cellular DNA.

TITLE:
Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced lifespan

AUTHOR CONTACT:
Nathalie G Bérubé
Children's Health Research Institute, The University of Western Ontario, London, ON, CAN
Phone: 519-685-8500 x 55066; Fax: 519-685-8616; E-mail: nberube@uwo.ca

View this article at: http://www.jci.org/articles/view/65634?key=d3e4230ee774cca17a25

Researchers identify transcription factors that regulate retinal vascularization

The retina is a highly vascularized tissue, but too much or too little vascularization can lead to visual impairment and diseases such as familial exudative vitreoretinopathy or macular degeneration. In this issue of the Journal of Clinical Investigation, Alfred Nordheim and colleagues at Tuebingen University in Tuebingen, Germany, identified the DNA transcription factor SRF and its cofactors MRTF-A and MRTF-B as critical regulators of vascularization in the postnatal mouse eye. Loss of vascular Srf in adult mice led to the formation of microaneurysms and excess blood vessel formation similar to human retinal diseases such as retinal angiomatous proliferation and macular telangiectasia. These studies demonstrate that SRF plays an integral role in the development and homeostasis or the retinal vasculature and suggest that SRF could potentially serve as a therapeutic target in human retinal diseases.

TITLE:
Endothelial SRF/MRTF ablation causes vascular disease phenotypes in murine retinae

AUTHOR CONTACT:
Alfred Nordheim
Tuebingen University, Tuebingen, DEU
Phone: 4970712978898; E-mail: alfred.nordheim@uni-tuebingen.de

View this article at: http://www.jci.org/articles/view/64201?key=4dc1a65206b8018e0e4b

ALSO IN THIS ISSUE

TITLE:
Loss of acinar cell Ikka triggers spontaneous pancreatitis in mice

AUTHOR CONTACT:
Michael Karin
University of California, San Diego, La Jolla, CA, USA
Phone: 858-534-1361; Fax: 858-534-8158; E-mail: karinoffice@ucsd.edu

View this article at: http://www.jci.org/articles/view/64498?key=8da89eb7ab14951f7606

TITLE:
Natural variation in Fc glycosylation of HIV-specific antibodies impacts anti-viral activity

AUTHOR CONTACT:
Galit Alter
Massachusetts General Hospital, Charlestown, MA, USA
Phone: 617-724-0546; Fax: 617-726-5411; E-mail: galter@partners.org

View this article at: http://www.jci.org/articles/view/65708?key=259e1956bd16b3da2139

TITLE:
CCDC22 deficiency in humans blunts activation of pro-inflammatory NF-κB signaling

AUTHOR CONTACT:
Ezra Burstein
University of Texas Southwestern Medical Center, Dallas, TX, USA
Phone: 214-648-2008; Fax: 214-648-2022; E-mail: ezra.burstein@utsouthwestern.edu

View this article at: http://www.jci.org/articles/view/66466?key=e9513cca064259fdf788

TITLE:
HIF1α and HIF2α independently activate SRC to promote melanoma metastases

AUTHOR CONTACT:
William Kim
University of North Carolina, Chapel Hill, NC, USA
Phone: 919-966-4765; E-mail: wykim@med.unc.edu

View this article at: http://www.jci.org/articles/view/66715?key=f24859543559147acb78

TITLE:
Smoothened is a master regulator of adult liver repair

AUTHOR CONTACT:
Anna Mae Diehl
Duke University Medical Center, Durham, NC, USA
Phone: 919-684-4173; Fax: 919-684-4183; E-mail: diehl004@mc.duke.edu

View this article at: http://www.jci.org/articles/view/66904?key=05c91856cad4eb6a6fc7

TITLE:
Eosinophil pathogenicity mechanisms and therapeutics in neuromyelitis optica

AUTHOR CONTACT:
Alan Verkman
University of California, San Francisco, San Francisco, CA, USA
Phone: 415-476-8530; Fax: 415-665-3847; E-mail: Alan.Verkman@ucsf.edu

View this article at: http://www.jci.org/articles/view/67554?key=eb9bbcb11dc37e2fc635

### END


ELSE PRESS RELEASES FROM THIS DATE:

Protecting against aging at the molecular level

2013-04-08
High fidelity DNA replication during each cycle of cell division is required to maintain genomic stability and prevent chromosomal mutations and rearrangements that can cause disease and aging. Mutations in ATRX, a gene that encodes a protein that participates in DNA replication, are associated with X-linked mental retardation, various cancers, and developmental disorders, but the cellular functions of ATRX are still unclear. In this issue of the Journal of Clinical Investigation, researchers led by Nathalie Bérubé at the University of Western Ontario report on the effects ...

Researchers identify transcription factors that regulate retinal vascularization

2013-04-08
The retina is a highly vascularized tissue, but too much or too little vascularization can lead to visual impairment and diseases such as familial exudative vitreoretinopathy or macular degeneration. In this issue of the Journal of Clinical Investigation, Alfred Nordheim and colleagues at Tuebingen University in Tuebingen, Germany, identified the DNA transcription factor SRF and its cofactors MRTF-A and MRTF-B as critical regulators of vascularization in the postnatal mouse eye. Loss of vascular Srf in adult mice led to the formation of microaneurysms and excess blood vessel ...

Children with autism leave 'silly' out

2013-04-08
When a child with autism copies the actions of an adult, he or she is likely to omit anything "silly" about what they've just seen. In contrast, typically developing children will go out of their way to repeat each and every element of the behavior even as they may realize that parts of it don't make any sense. The findings, reported in the Cell Press journal Current Biology on April 8, are the first to show that the social nature of imitation is very important and challenging for children with autism, the researchers say. They also emphasize just how important it is ...

Rare primate's vocal lip-smacks share features of human speech

2013-04-08
VIDEO: The vocal lip-smacks that geladas use in friendly encounters have surprising similarities to human speech, according to a study reported in the Cell Press journal Current Biology on April 8th.... Click here for more information. The vocal lip-smacks that geladas use in friendly encounters have surprising similarities to human speech, according to a study reported in the Cell Press journal Current Biology on April 8th. The geladas, which live only in the remote mountains ...

Stillbirth rates have increased significantly, although spontaneous stillbirth rates have not

2013-04-08
The rate of stillbirths in British Columbia, Canada, increased by 31% over a decade, although the rate of spontaneous stillbirths did not increase, according to a study published in CMAJ (Canadian Medical Association Journal). Stillbirth rates, which had been declining for decades, have increased or plateaued in several industrialized countries. For example, rates in Australia have increased from 7.0 per 1000 total births in 2000 to 7.8 per 1000 in 2009 and in Canada, rates have increased from 6.0 per 1000 total births in 2000 to 7.1 per 1000 in 2009. The United States, ...

Personal preventive health practices of physicians can benefit patients

2013-04-08
There is a direct, positive link between physicians' preventive health practices and those of their patients, found a study published in CMAJ (Canadian Medical Association Journal). Researchers looked at the screening and vaccination practices of 1488 physicians and their 1 886 791 adult patients in Israel's largest health maintenance organization, Clalit Health Services (CHS). These practices included age appropriate mammography, blood pressure measurement, colorectal screening, annual influenza vaccinations and others. For example, among patients whose physicians had ...

Healthy doctors make healthy patients, study finds

2013-04-08
Patients are more likely to follow preventive health practices like getting a flu shot or mammography if their doctors do likewise, researchers at the University of British Columbia and in Israel have discovered. "We found that patients whose physicians adhered to the recommended screening or vaccination practices were significantly more likely to also undergo screening or vaccination compared with patients of non-compliant physicians," said Dr. Erica Frank of UBC's School of Population and Public Health. Dr. Frank worked with three Israeli researchers and their findings ...

Migraine triggers tricky to pinpoint

2013-04-08
WINSTON-SALEM, N.C. – April 8, 2013 – Women often point to stress, hormones, alcohol, or even the weather as possible triggers for their migraines. But a new study from Wake Forest Baptist Medical Center found that it is nearly impossible for patients to determine the true cause of their migraine episodes without undergoing formal experiments. The majority of migraine sufferers try to figure out for themselves what causes their headaches based on real world conditions, said lead author Timothy T. Houle, Ph.D, associate professor of anesthesia and neurology at Wake Forest ...

Cry me a river of possibility: Scientists design new adaptive material inspired by tears

2013-04-08
Imagine a tent that blocks light on a dry and sunny day, and becomes transparent and water-repellent on a dim, rainy day. Or highly precise, self-adjusting contact lenses that also clean themselves. Or pipelines that can optimize the rate of flow depending on the volume of fluid coming through them and the environmental conditions outside. A team of researchers at the Wyss Institute at Harvard University and Harvard's School of Engineering and Applied Sciences (SEAS) just moved these enticing notions much closer to reality by designing a new kind of adaptive material ...

Copying is social phenomenon, not just learning, say scientists

2013-04-08
Mimicking the behaviour of mum and dad has long been considered a vital way in which children learn about the world around them. Now psychologists at The University of Nottingham have shown that copying unnecessary behaviour is more likely to be a social phenomenon than part of the practical process of acquiring new skills. In their study, published today in the journal Current Biology, the scientists found that autistic children, who have profound difficulty in engaging in social situations, were less likely to copy unnecessary behaviour when learning a new task. The ...

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[Press-News.org] JCI early table of contents for April 8, 2013