Asset Details
Do you wish to reserve the book?
Recurrent PRKAR1A Mutation in Acrodysostosis with Hormone Resistance
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Recurrent PRKAR1A Mutation in Acrodysostosis with Hormone Resistance
Do you wish to request the book?
Recurrent PRKAR1A Mutation in Acrodysostosis with Hormone Resistance
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Recurrent PRKAR1A Mutation in Acrodysostosis with Hormone Resistance
2011
Overview
The authors describe a germ-line mutation in the gene for PRKAR1A in three unrelated patients with acrodysostosis and resistance to multiple hormones. The mutated protein subunit impairs the response of protein kinase A to cyclic-AMP stimulation.
Numerous hormones activate heterotrimeric G-protein–coupled receptors, which then activate G protein and adenylyl cyclase, generating intracellular cAMP.
1
In turn, cAMP activates protein kinase A, resulting in the phosphorylation of specific proteins that mediate the physiological effects of these hormones.
2
–
4
Loss-of-function mutations in the gene encoding GNAS cause pseudohypoparathyroidism type 1a, a disease with characteristic developmental and skeletal abnormalities (collectively called Albright's hereditary osteodystrophy, i.e., short stature, brachydactyly most frequently affecting the fourth and fifth metacarpals, rounded facies, obesity, and heterotopic subcutaneous ossification) that are associated with hormone resistance.
1
,
5
Acrodysostosis (Online Mendelian Inheritance in Man number 101800) is a . . .
Publisher
Massachusetts Medical Society
Subject
/ Biological and medical sciences
/ Child
/ Cyclic AMP-Dependent Protein Kinase RIalpha Subunit - genetics
/ Cyclic AMP-Dependent Protein Kinase RIalpha Subunit - metabolism
/ Cyclic AMP-Dependent Protein Kinases - metabolism
/ Disease
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Humans
/ Intellectual Disability - genetics
/ Intellectual Disability - metabolism
/ Kinases
/ Male
/ Mutation
/ Obesity
/ Osteochondrodysplasias - genetics
/ Osteochondrodysplasias - metabolism
/ Parathyroid Hormone - metabolism
/ Patients
/ Pedigree
/ Proteins
/ Skeleton
