Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
about
Mouse Models Recapitulating Human Adrenocortical Tumors: What Is Lacking?Management Guidelines for Children with Thyroid Nodules and Differentiated Thyroid CancerThe molecular pathogenesis of pituitary adenomas: an updateMolecular genetics of adrenocortical tumor formation and potential pharmacologic targetsCarney complex: an updateOsteochondromyxoma: Review of a rare carney complex criterionMEN1, MEN4, and Carney Complex: Pathology and Molecular GeneticsGynaecomastia--pathophysiology, diagnosis and treatmentPancreatic ductal and acinar cell neoplasms in Carney complex: a possible new associationGenetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromesThe complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlationFollicular thyroid cancers demonstrate dual activation of PKA and mTOR as modeled by thyroid-specific deletion of Prkar1a and Pten in mice.Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout miceThyroid cancer: current molecular perspectives.Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome.Novel PRKAR1A gene mutations in Carney Complex.Cyclic AMP, protein kinase A, and phosphodiesterases: proceedings of an international workshopDifferentially regulated protein kinase A (PKA) activity in adipose tissue and liver is associated with resistance to diet-induced obesity and glucose intolerance in mice that lack PKA regulatory subunit type IIα.PRKAR1A and the evolution of pituitary tumors.Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.Solid tumors associated with multiple endocrine neoplasias.Carney complex and other conditions associated with micronodular adrenal hyperplasias.Post-operative growth is different in various forms of pediatric Cushing's syndromeAnterior pituitary adenomas: inherited syndromes, novel genes and molecular pathways.Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome.How does cAMP/protein kinase A signaling lead to tumors in the adrenal cortex and other tissues?The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.Carney complex and lentiginosisDifferential role of PKA catalytic subunits in mediating phenotypes caused by knockout of the Carney complex gene Prkar1a.Myxoma of the ear lobe in a 23-month-old girl with Carney complexA large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancerActivation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutationsIn vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complexExome sequencing identifies PDE4D mutations in acrodysostosisThe differential diagnosis of familial lentiginosis syndromesFunctional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.Celecoxib reduces glucocorticoids in vitro and in a mouse model with adrenocortical hyperplasia.PRKAR1A-negative familial Cushing's syndrome: two case reports.
P2860
Q26740687-22EA5F68-4709-457A-BC42-CDFF3058BF42Q26829349-73E88EF0-B400-4711-9746-AC9F1B1C2BA2Q26830047-DC1E93C7-622C-43AE-ACDC-CEB94935BE73Q26849995-578F0FBE-7E38-466F-8938-98FC82A1529FQ27026529-4E7CDF42-9905-48C8-8EE5-6BA1CAADE52CQ28073245-11044163-BC45-4CE9-A7AA-C3746575C0ACQ28088746-A0C454B2-42CB-4E7D-A208-424ED32DB78BQ28245725-A2175356-09D3-4CFA-8C36-686E29DF4275Q28247409-03E26BF7-CAC2-44D6-9D72-8D41BE8DC9B0Q30454537-C7A8D74B-4776-4323-8EF4-39192EC57925Q30457896-DE9D55B9-54FF-4D7D-BB5A-91E145030C6DQ33569087-2F77D6FB-53BE-4EC3-8461-D540EBB8B61BQ33586753-554C603F-C45C-4EA0-8207-A45CEC55F977Q33604822-0207F391-CFE9-49AC-9580-809810E5EE73Q33760910-282A879F-D343-4571-A059-E63B33BFCACBQ33909917-7D88A568-1ABB-4063-BCAD-8ECBD7D86BB4Q33962052-B82B78F3-0494-4D5A-919D-AEB9E1731955Q34055579-3DC5CE5D-4FB0-464E-A6BD-8D04A4B8A750Q34068358-AB545A12-574E-400A-88F6-3FE962C442D9Q34070989-9F3D4BD7-99A2-410D-B1DA-91642F21B663Q34113281-40C8E8DB-AE96-43B0-A701-FDABBCCAFB87Q34213017-FA401D73-5CA8-45A3-B205-3CF1F8FEBBF7Q34398710-9567673F-11D0-40DF-8DE5-328849178781Q34403758-9A0B790A-154D-4B78-978C-35D9AA183A0AQ34508504-9BFA32C8-4709-453F-8B22-ED4BE870D352Q34571810-C4F6208C-70D2-459F-9173-EF8B35037B37Q34622497-34FB1121-BEC3-414C-B9A0-B9964461B2C3Q34629130-EDB40F07-659D-44B4-B868-D0426A8A0E28Q34630270-F26B576D-6E66-4822-A1EE-BDCF12226F24Q35106673-6E9412EE-870E-4E4D-8A76-B0660AFB366FQ35238426-09814362-385C-41D3-98AE-D778DE7A2BF1Q35605816-B9110765-4295-4926-BE9B-A585A5DC3B3FQ35744501-67717AF0-AC2B-4283-AC88-D03BA4A5DBD2Q35869529-7D6382D8-784A-4505-8027-B71FE41E3045Q35869641-5EFD98C0-C398-4DB7-AFBA-757B02EA7ABCQ35877826-F1746635-DFE0-4741-9FBF-980D48E92878Q36158532-92073C10-56B2-4A7D-8DAE-5627A962332EQ36282925-6088A677-B290-4B3B-91DA-8DF94565854FQ36319490-B3D89536-82BD-46DF-A8B5-717193A5C2BCQ36336647-37E3CF4D-A330-4B7F-9DBF-7512DC7A4CDA
P2860
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 17 March 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Mutations in regulatory subuni ...... ts and 80 different genotypes.
@en
Mutations in regulatory subuni ...... phate-dependent protein kinase
@nl
type
label
Mutations in regulatory subuni ...... ts and 80 different genotypes.
@en
Mutations in regulatory subuni ...... phate-dependent protein kinase
@nl
prefLabel
Mutations in regulatory subuni ...... ts and 80 different genotypes.
@en
Mutations in regulatory subuni ...... phate-dependent protein kinase
@nl
P2093
P2860
P50
P356
P1476
Mutations in regulatory subuni ...... ts and 80 different genotypes.
@en
P2093
Alain Calender
Anélia Horvath
Eric Clauser
Fernande René-Corail
Isabelle Bourdeau
J Aidan Carney
Laure Cazabat
Lawrence S Kirschner
Rosella Libe
Sophie Grabar
P2860
P304
P356
10.1210/JC.2008-2333
P407
P577
2009-03-17T00:00:00Z