HOME >> BIOLOGY >> NEWS
JCI table of contents, 15 October, 2003

es dysregulation of calcium and phosphate levels. Harald Jppner and colleagues from Massachusetts General Hospital, Boston, have previously shown that PHP-Ib is genetically linked to a region on chromosome 20q13.3 that includes the gene GNAS. All previous studies of PHP-Ib cases have described a loss of methylation at the maternal GNAS exon A/B, suggesting that PHP-Ib is caused by a mutation or mutations in an element of GNAS that controls exon A/B methylation. Through further genetic analysis of a number of unrelated affected individuals and gene carriers, Jppner and colleagues have now identified a small microdeletion upstream of GNAS exon A/B that results in a loss of exon A/B methylation and propose that it is this genetic defect that underlies renal PTH resistance in PHP-Ib.

TITLE: Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

AUTHOR CONTACT:
Harald Jppner
Massachusetts General Hospital, Boston, Massachusetts, USA.
Phone: (617) 726-3966
Fax: (617) 726-7543
E-mail: jueppner@helix.mgh.harvard.edu

View the PDF of this article at: https://www.the-jci.org/press/19159.pdf


T cell activation throws lupus for a loop

Lupus is an autoimmune disease where an individual produces antibodies against their own body tissues. In a mouse model of lupus, treatment with alpha-galactosylceramide (alphaGalCer), a ligand of natural killer T cells, has been shown to ameliorate disease by changing the immune response from pathogenic (Th1-type) to nonpathogenic (Th2-type). In contrast, Defu Zheng and colleagues from Stanford University School of Medicine and the La Jolla Institute of Allergy and Immunology in California found that in an alternative mouse mode
'"/>

Contact: Brooke Grindlinger
science_editor@the-jci.org
212-342-9006
Journal of Clinical Investigation
15-Oct-2003


Page: 1 2 3 4 5 6 7 8 9 10 11 12 13

Related biology news :

1. Chemical engineering grad students will take notable national awards
2. New study indicates arsenic could be suitable as first-line treatment in type of leukaemia
3. JCI table of contents September 15, 2004
4. JCI table of contents: 1 September, 2004
5. Anti-cancer compound in vegetables found to block late-stage breast-cancer cell growth
6. JCI table of contents, 16 August, 2004
7. JCI table of contents, 2 August, 2004
8. When male fish hum, females swim in, thanks to hormones, adaptable hearing
9. JCI table of contents, 1 July 2004
10. Search and destroy protein turns tables on HIV
11. JCI table of contents, 15 June 2004

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/26/2020)... ... ... A team of researchers at the Icahn School of Medicine at Mount ... that causes coronavirus disease (COVID-19). This antibody is intended to block the virus from ... The efforts are being led by Mone Zaidi, MD, PhD, MACP, Director of the ...
(Date:4/22/2020)... ... April 21, 2020 , ... Worcester Polytechnic Institute (WPI) ... provide critical medical supplies to address the expected spike of COVID-19 cases. As part ... WPI has arranged for 3D printers and other materials to be sent to six ...
(Date:4/15/2020)... ROCHELLE, Va. (PRWEB) , ... April 15, 2020 , ... ... Suleiman, MS, PhD, FAAPM, FHPS , former Senior Science Policy Advisor with the Center ... Devices in the Center for Devices and Radiological Health, has joined the firm as ...
Breaking Biology News(10 mins):
(Date:5/21/2020)... MN (PRWEB) , ... May 19, 2020 , ... Experienced ... help patients get dental implants and bone grafting through PIEZOSURGERY® technology. PIEZOSURGERY ... This is often used to prepare a patient for dental implants, especially when the ...
(Date:5/15/2020)... Mass. (PRWEB) , ... May 14, 2020 , ... ... but to undergo multiple open heart surgeries before becoming adults. The ... , To address this critical unmet need, the Department of Defense has ...
(Date:5/14/2020)... ... May 12, 2020 , ... NanoString Technologies , ... thousands of industry leaders, clinicians, research scientists, medical professionals and academics from around ... MD, Director of the Center for Cellular Immunotherapies at the Perelman School of ...
(Date:5/5/2020)... Pa. (PRWEB) , ... May 04, 2020 , ... ... and process solutions for the life sciences industry, today announced that Informa Training ... is officially changing its name to Red Nucleus Boston, effective immediately. , “The ...
Breaking Biology Technology:
Cached News: