Varaico: Literature-Extracted Genetic Variants

Gene:PRKAR1A
Variant:p.M1V
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PRKAR1A

NM_002734.5:p.M1V

Associated Papers

Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.

Altun İ et al.

Journal of Clinical Research in Pediatric Endocrinology, 2026

Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.

Balinisteanu I et al.

Current Issues in Molecular Biology, 2024

Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome.

Martinerie L et al.

Annales D'endocrinologie, 2024

The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.

Sun J et al.

Frontiers in Endocrinology, 2024

Genetic Alterations in Benign Adrenal Tumors.

Pitsava G et al.

Biomedicines, 2022

Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.

Kamilaris CDC et al.

Frontiers in Endocrinology, 2021

Adrenocortical tumorigenesis: Lessons from genetics.

Kamilaris CDC et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2020

Acromegaly in Carney complex.

Cuny T et al.

Pituitary, 2019

Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.

Memon SS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.

Navarro Moreno C et al.

Hormone Research in Paediatrics, 2018

A Novel Mutation of PRKAR1A Caused Carney Complex in a Chinese Patient.

Cai XL et al.

Chinese Medical Journal, 2017

Carney complex with PRKAR1A gene mutation: A case report and literature review.

Liu Q et al.

Medicine, 2017

Carney complex: an update.

Correa R et al.

European Journal of Endocrinology, 2015

A novel PRKAR1A gene mutation associated with primary pigmented nodular adrenocortical disease.

Ran H et al.

The American Journal of the Medical Sciences, 2014

[A pedigree study of a patient with primary pigmented nodular adrenocortical disease and familial gene mutation].

Ran H et al.

Zhonghua Nei Ke Za Zhi, 2014

Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Salpea P et al.

Molecular and Cellular Endocrinology, 2014

Genetic aspects of adrenocortical tumours and hyperplasias.

Mazzuco TL et al.

Clinical Endocrinology, 2012

A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.

Anselmo J et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other.

Tung SC et al.

Endocrine Journal, 2012

Carney complex: Clinical and genetic 2010 update.

Vezzosi D et al.

Annales D'endocrinologie, 2010

Carney complex and other conditions associated with micronodular adrenal hyperplasias.

Almeida MQ et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Horvath A et al.

Human Mutation, 2010

Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.

Pereira AM et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Carney complex and lentiginosis.

Horvath A et al.

Pigment Cell & Melanoma Research, 2009

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.

Bertherat J et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).

Tadjine M et al.

Clinical Endocrinology, 2008

PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes.

Robinson-White AJ et al.

Cancer Research, 2006

17079485 (PubMed )
Supplement: 00085472can062200-sup-supplementary_table_1.pdf

PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.

Robinson-White A et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures.

Papanastasiou L et al.

Hormones (athens, Greece), 0

Genetics of micronodular adrenal hyperplasia and Carney complex.

Tirosh A et al.

Presse Medicale (paris, France : 1983), 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."