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https://www.readbyqxmd.com/read/29222914/fibrolamellar-carcinoma-in-the-carney-complex-prkar1a-loss-instead-of-the-classic-dnajb1-prkaca-fusion
#1
P Graham Rondell, Karoline Lackner, Luigi Terracciano, Yessica González-Cantú, Joseph J Maleszewski, Patricia T Greipp, Sanford M Simon, Michael S Torbenson
Fibrolamellar carcinomas are characterized by activation of protein kinase A, a kinase composed of catalytic and regulatory subunits. PRKACA encodes a catalytic subunit of protein kinase A and almost all fibrolamellar carcinomas have a heterozygous 400kb deletion that leads to the fusion of DNAJB1 and PRKACA. The resulting DNAJB1-PRKACA fusion transcript is believed to activate protein kinase A by dysregulation of the catalytic portion of the protein. In contrast, PRKAR1A encodes one of the regulatory subunits of protein kinase A...
December 9, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29205368/cyclic-amp-dependent-protein-kinase-catalytic-subunit-a-prkaca-the-expected-the-unexpected-and-what-might-be-next
#2
Constantine A Stratakis
Protein kinase A (PKA) or cyclic-AMP (cAMP)-dependent kinase was among the first serine-threonine kinases to be molecularly and functionally characterized. For years, it was investigated as the enzyme that mediates cAMP functions in almost all cell systems and organisms studied to date. Despite PKA's critical role in signaling and the long history of investigations of cAMP in oncogenesis (dating back to the 1970's), it was not until relatively recently that PKA defects were found to be directly involved in tumor predisposition...
December 4, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29162369/carney-complex-review-genetic-features
#3
María Belén Bosco Schamun, Ricardo Correa, Patricia Graffigna, Valeria de Miguel, Patricia Fainstein Day
Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex...
November 18, 2017: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/28984035/carney-complex-revealed-by-a-cerebellar-ischaemic-stroke-in-a-6-year-old-girl
#4
LETTER
M Acquitter, V Laparra, E Brenaut, S Peudenier, R Teissier, E Clauser, L Misery, C Abasq-Thomas
No abstract text is available yet for this article.
October 6, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28973408/fatal-carney-complex-in-siblings-due-to-de-novo-large-gene-deletion
#5
Maria Stelmachowska-Banas, Wojciech Zgliczynski, Piotr Tutka, J Aidan Carney, Márta Korbonits
Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, but in about one-third of patients, the disease is caused by de novo mutation in the PRKAR1A gene localized on chromosome 17q22-24. Most of the mutations include single base substitutions and small deletions/insertions not exceeding 15 base pairs. Recently, large germline PRKAR1A deletions have been described and may cause a more severe phenotype...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28878664/a-novel-prkar1a-mutation-identified-in-a-patient-with-isolated-primary-pigmented-nodular-adrenocortical-disease
#6
Sira Korpaisarn, Objoon Trachoo, Bhakbhoom Panthan, Rangsima Aroonroch, Ronnarat Suvikapakornkul, Chutintorn Sriphrapradang
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemical laboratory examinations confirmed the ACTH-independent adrenal Cushing syndrome with negative Liddle test. A small right adrenal adenoma of 0...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28871709/unusual-presentations-of-carney-complex-in-patient-with-a-novel-prkar1a-mutation
#7
Safak Akin, Senem Noyan, Selcuk Dagdelen, Ilhan Pasaoglu, Volkan Kaynaroglu, Melike Mut Askun, Cenk Yucel Bilen, Hayyam Kiratli, Dilek Ertoy Baydar, Sevgen Onder, Cenk Sokmensuer, Kudret Aytemir, Gul Erkin, Pinar Ozgen Kiratli, Mehmet Alikasifoglu, Tomris Erbas
Carney Complex (CNC) is a multiple neoplasia syndrome characterized by skin tumors and pigmented lesions, myxomas, and various endocrine tumors. The aim of this case report was to describe a case of CNC with a novel PRKAR1A mutation. A man aged 46 years with a medical history of surgery for cardiac myxomas at the age of 39 was admitted to our hospital because of four newly-developed heart masses. The histologic examination confirmed cardiac myxomas. He had many presentations of CNC such as growth hormone (GH) and prolactin (PRL)-secreting mixed pituitary adenoma, benign thyroid nodule, large-cell calcifying Sertoli cell tumor (LCCST), and superficial angiomyxoma...
August 5, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28834963/lipofuscin-accumulation-in-cortisol-producing-adenomas-with-and-without-prkaca-mutations
#8
Anna Angelousi, Eva Szarek, Vincent Shram, Electron Kebebew, Martha Quezado, Constantine A Stratakis
The adrenal cortex accumulates lipofuscin granules with age. Lipofuscin accumulation is also seen in adrenocortical tumors associated with Cushing syndrome (CS), particularly those with PRKAR1A mutations, such as in primary pigmented nodular adrenocortical disease (PPNAD). We investigated the presence of lipofuscin in cortisol-producing adenomas (CPAs) responsible for CS with and without the PRKACA (pLeu206Arg) somatic mutation. Ten paraffin-embedded sections of CPAs from cases with overt CS with (n=4) and without (n=6) a PRKACA mutation were microscopically examined through three detection methods, the hematoxylin-Eosin (H & E) staining, the Fontana Masson (FM) staining using light microscopy, and lipofuscin autofluorescence, using confocal laser scanning microscopy (CLSM)...
October 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28804209/endocrinological-and-phenotype-evaluation-in-a-patient-with-acrodysostosis
#9
Kaoru Ueyama, Noriyuki Namba, Taichi Kitaoka, Keiko Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Takuo Kubota, Keiichi Ozono
Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. Mutations in PRKAR1A or PDE4D are known to be responsible for this disease. Cases of hormonal resistance have been reported, particularly in patients with PRKAR1A mutations. The physical characteristics and endocrine function of pseudohypoparathyroidism type Ia is known to resemble acrodysostosis. We report the case of a 4-yr-old patient with a PRKAR1A mutation. He had characteristic facies with an upturned nose and cone-shaped epiphyses of most phalanges...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28796000/genomic-analysis-of-pigmented-epithelioid-melanocytomas-reveals-recurrent-alterations-in-prkar1a-and-prkca-genes
#10
Jarish N Cohen, Nancy M Joseph, Jeffrey P North, Courtney Onodera, Artur Zembowicz, Philip E LeBoit
Pigmented epithelioid melanocytoma (PEM) is a rare cutaneous melanocytic tumor first described as epithelioid blue nevus in patients with the Carney Complex (CC). PEM was among the first established examples of an intermediate class of melanocytic tumors, including atypical Spitz tumors, with frequent metastasis to lymph nodes but only rare extranodal spread. Sporadic and CC-associated PEM are essentially histologically indistinguishable. A subset of PEM shows loss of cytoplasmic expression of the protein kinase A regulatory subunit alpha (PRKAR1A), a tumor suppressor gene mutated in 70% of families with CC...
October 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28745458/novel-prkar1a-mutation-in-carney-complex-with-cardiac-myxoma
#11
Kyohei Kondo, Masako Harada, Takao Konomoto, Megumi Hatanaka, Hiroyuki Nunoi
No abstract text is available yet for this article.
July 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28662997/next-generation-immunohistochemistry-emerging-substitutes-to-genetic-testing
#12
REVIEW
Juliana Andrici, Anthony J Gill, Jason L Hornick
The identification of at-risk kindreds facilitates screening and risk reduction strategies for patients with hereditary cancer predisposition syndromes. Recently, immunohistochemistry (IHC) has emerged as a cost-effective strategy for detecting or inferring the presence of mutations in both tumors and the germline of patients presenting with tumors associated with hereditary cancer predisposition syndromes. In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes...
June 27, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28640241/long-read-genome-sequencing-identifies-causal-structural-variation-in-a-mendelian-disease
#13
Jason D Merker, Aaron M Wenger, Tam Sneddon, Megan Grove, Zachary Zappala, Laure Fresard, Daryl Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S Smith, Stephen B Montgomery, Matthew Wheeler, Jillian G Buchan, Christine C Lambert, Kevin S Eng, Luke Hickey, Jonas Korlach, James Ford, Euan A Ashley
PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read sequencing (LRS) has complementary strengths, and we aimed to determine whether LRS could offer a means to identify overlooked genetic variation in patients undiagnosed by SRS.MethodsWe performed low-coverage genome LRS to identify structural variants in a patient who presented with multiple neoplasia and cardiac myxomata, in whom the results of targeted clinical testing and genome SRS were negative...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28615245/the-regulatory-1%C3%AE-subunit-of-protein-kinase-a-modulates-renal-cystogenesis
#14
Hong Ye, Xiaofang Wang, Megan M Constans, Caroline R Sussman, Fouad T Chebib, María V Irazabal, William F Young, Peter C Harris, Lawrence S Kirschner, Vicente E Torres
The failure of the polycystins (PCs) to function in primary cilia is thought to be responsible for autosomal dominant polycystic kidney disease (ADPKD). Primary cilia integrate multiple cellular signaling pathways, including calcium, cAMP, Wnt, and Hedgehog, which control cell proliferation and differentiation. It has been proposed that mutated PCs result in reduced intracellular calcium, which in turn upregulates cAMP, protein kinase A (PKA) signaling, and subsequently other proliferative signaling pathways...
September 1, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28522647/prkar1a-mutation-causing-pituitary-dependent-cushing-disease-in-a-patient-with-carney-complex
#15
Florian W Kiefer, Yvonne Winhofer, Donato Iacovazzo, Márta Korbonits, Stefan Wolfsberger, Engelbert Knosp, Franz Trautinger, Romana Höftberger, Michael Krebs, Anton Luger, Alois Gessl
CONTEXT: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. CASE DESCRIPTION: Here, we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma...
August 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28515031/phenotypic-variability-in-a-family-with-acrodysostosis-type-2-caused-by-a-novel-pde4d-mutation-affecting-the-serine-target-of-pka-phosphorylation
#16
Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster
BACKGROUND: Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A and acrodysostosis type 2 caused by mutations in PDE4D. Most cases are sporadic. OBJECTIVE: We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28513873/myxoid-fibroadenomas-differ-from-conventional-fibroadenomas-a-hypothesis-generating-study
#17
John R Lozada, Kathleen A Burke, Aoife Maguire, Fresia Pareja, Raymond S Lim, Jisun Kim, Rodrigo Gularte-Merida, Melissa P Murray, Edi Brogi, Britta Weigelt, Jorge S Reis-Filho, Felipe C Geyer
AIMS: Breast myxoid fibroadenomas (MFAs) are characterized by a distinctive hypocellular myxoid stroma, and occur sporadically or in the context of Carney complex, an inheritable condition caused by PRKAR1A-inactivating germline mutations. Conventional fibroadenomas (FAs) are underpinned by recurrent MED12 mutations in the stromal components of the lesions. The aim of this study was to investigate the genomic landscape of MFAs and compare it with that of conventional FAs. METHODS AND RESULTS: Eleven MFAs from patients without clinical and/or genetic evidence of Carney complex were retrieved...
October 2017: Histopathology
https://www.readbyqxmd.com/read/28488625/genetics-of-pituitary-adenomas
#18
Mario Shaid, Márta Korbonits
Clinically relevant pituitary tumors presenting with altered hormonal secretion or mass effect represent a significant proportion of patients in endocrinology clinics. However, in recent years, these patients are also referred to clinical genetic services due to possible germline mutations causing syndromic or isolated pituitary adenomas. While somatic mutations have been identified in GNAS, USB8, PIK3CA, GPR101 and rarely in RAS, germline mutations have been identified in MEN1, cyclin dependent kinase inhibitor genes, AIP, DICER1, PRKAR1A, PRKACA, SDH genes and GPR101...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28369983/microinsertions-in-prkaca-cause-activation-of-the-protein-kinase-a-pathway-in-cardiac-myxoma
#19
I-Ching Tseng, Wei-Ju Huang, Yu-Ling Jhuang, Ya-Yun Chang, Hung-Pin Hsu, Yung-Ming Jeng
Cardiac myxoma is the most common cardiac tumour. Most lesions occur sporadically, but occasional lesions develop in patients with Carney complex, a syndrome characterized by cardiac myxoma, spotty pigmentation, and endocrine overactivity. Two-thirds of patients with Carney complex harbour germline mutations in PRKAR1A, which encodes the type I regulatory subunit of protein kinase A (PKA). Most studies have not found a mutation in PRKAR1A in sporadic cardiac myxoma cases. Recent studies identified frequent mutations in PRKACA, which encodes the catalytic subunit of PKA, in cortisol-secreting adrenocortical adenoma cases...
June 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28220018/germline-variants-in-familial-pituitary-tumour-syndrome-genes-are-common-in-young-patients-and-families-with-additional-endocrine-tumours
#20
Sunita M C De Sousa, Mark J McCabe, Kathy Wu, Tony Roscioli, Velimir Gayevskiy, Katelyn Brook, Lesley Rawlings, Hamish S Scott, Tanya J Thompson, Peter Earls, Anthony J Gill, Mark J Cowley, Marcel E Dinger, Ann I McCormack
OBJECTIVE: Familial pituitary tumour syndromes (FPTS) account for 5% of pituitary adenomas. Multi-gene analysis via next-generation sequencing (NGS) may unveil greater prevalence and inform clinical care. We aimed to identify germline variants in selected patients with pituitary adenomas using a targeted NGS panel. DESIGN: We undertook a nationwide cross-sectional study of patients with pituitary adenomas with onset ≤40 years of age and/or other personal/family history of endocrine neoplasia...
May 2017: European Journal of Endocrinology
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