Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. - Wikidata - awgldk - TriplyDB

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

http://www.wikidata.org/entity/Q37557334

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Hepatocellular carcinoma mouse models: Hepatitis B virus-associated hepatocarcinogenesis and haploinsufficient tumor suppressor genes Assembly of allosteric macromolecular switches: lessons from PKA PKA RIα Homodimer Structure Reveals an Intermolecular Interface with Implications for Cooperative cAMP Binding and Carney Complex Disease Improved discrimination of melanotic schwannoma from melanocytic lesions by combined morphological and GNAQ mutational analysis.MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics PhosphoSitePlus, 2014: mutations, PTMs and recalibrations Growth hormone-secreting tumors: genetic aspects and data from animal models Targeted deletion of kcne2 impairs ventricular repolarization via disruption of I(K,slow1) and I(to,f)Haploinsufficiency at the protein kinase A RI alpha gene locus leads to fertility defects in male mice and men Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes [Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X].Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice Cell-type specific expression of a dominant negative PKA mutation in mice.Novel PRKAR1A gene mutations in Carney Complex.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.Carney complex and other conditions associated with micronodular adrenal hyperplasias.Carney complex (CNC).Isoform-specific targeting of PKA to multivesicular bodies.Targeted deletion of Prkar1a reveals a role for protein kinase A in mesenchymal-to-epithelial transition.A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.Carney complex and lentiginosis Differential role of PKA catalytic subunits in mediating phenotypes caused by knockout of the Carney complex gene Prkar1a.The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis.In vivo pathogenic role of mutant SOD1 localized in the mitochondrial intermembrane space Tumor suppressor genetics.Hematopoietic neoplasms in Prkar2a-deficient mice Inherited disposition to cardiac myxoma development.Mutation of Prkar1a causes osteoblast neoplasia driven by dysregulation of protein kinase A.Pituitary-specific knockout of the Carney complex gene Prkar1a leads to pituitary tumorigenesis.Carney complex: pathology and molecular genetics.PKA, germ cells, and fertility.The cAMP pathway and the control of adrenocortical development and growth Unraveling the molecular basis of micronodular adrenal hyperplasia.Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.The PKARIalpha subunit of protein kinase A modulates the activation of p90RSK1 and its function.The Carney complex gene PRKAR1A plays an essential role in cardiac development and myxomagenesis.Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters.Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.Selective expression of a dominant-negative type Iα PKA regulatory subunit in striatal medium spiny neurons impairs gene expression and leads to reduced feeding and locomotor activity.

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Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

http://www.wikidata.org/entity/Q37557334

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 15 September 2004

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Comparative PRKAR1A genotype-p ...... rkar1a haploinsufficient mice.

@en

Comparative PRKAR1A genotype-p ...... rkar1a haploinsufficient mice.

@nl

type

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Comparative PRKAR1A genotype-p ...... rkar1a haploinsufficient mice.

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Comparative PRKAR1A genotype-p ...... rkar1a haploinsufficient mice.

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prefLabel

Comparative PRKAR1A genotype-p ...... rkar1a haploinsufficient mice.

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Comparative PRKAR1A genotype-p ...... rkar1a haploinsufficient mice.

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Proceedings of the National Academy of Sciences of the United States of America

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Comparative PRKAR1A genotype-p ...... rkar1a haploinsufficient mice.

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Alan Farnsworth

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Amanda Collins

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Art O'Hagan

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Beat J Meyer

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Carl J Vaughan

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Craig T Basson

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David Wilkes

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Deborah A Driscoll

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Deborah A McDermott

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Elizabeth Goldmuntz

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The tissue-specific extinguisher locus TSE1 encodes a regulatory subunit of cAMP-dependent protein kinase

Subtractive hybridization cloning of a tissue-specific extinguisher: TSE1 encodes a regulatory subunit of protein kinase A

Unconventional myosin VIIA is a novel A-kinase-anchoring protein

Identification and localization of TBX5 transcription factor during human cardiac morphogenesis

Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia

The complex of myxomas, spotty pigmentation, and endocrine overactivity

Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues

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14222-14227

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scholarly article

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10.1073/PNAS.0405535101

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101

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8342559

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15371594

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haploinsufficiency

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