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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 11 (of 11 Records)

Query Trace: Syndrome and PRKAR1A[original query]
Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes.
European journal of endocrinology / European Federation of Endocrine Societies 2009 Jul 161 (1): 153-61.
Bimpaki Eirini I, Nesterova Maria, Stratakis Constantine
Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications.
The Journal of clinical endocrinology and metabolism 2014 Feb 99 (2): E303-10.
London Edra, Rothenbuhler Anya, Lodish Maya, Gourgari Evgenia, Keil Meg, Lyssikatos Charalampos, de la Luz Sierra Maria, Patronas Nicolas, Nesterova Maria, Stratakis Constantine
Not all glucocorticoid-induced obesity is the same: differences in adiposity among various diagnostic groups of Cushing syndrome.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2014 Nov 46 (12): 897-903.
London E, Lodish M, Keil M, Lyssikatos C, de la Luz Sierra M, Nesterova M, Stratakis C
Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures.
Hormones (Athens, Greece) 2016 Jan 15 (1): 129-35.
Papanastasiou Labrini, Fountoulakis Stelios, Voulgaris Nikos, Kounadi Theodora, Choreftaki Theodosia, Kostopoulou Akrivi, Zografos George, Lyssikatos Charalampos, Stratakis Constantine A, Piaditis Geor
Microinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma.
The Journal of pathology 2017 Mar .
Tseng I-Ching, Huang Wei-Ju, Jhuang Yu-Ling, Chang Ya-Yun, Hsu Hung-Pin, Jeng Yung-Mi
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.
Journal of endocrinological investigation 2018 1 41 (8): 909-917.
Fu J, Lai F, Chen Y, Wan X, Wei G, Li Y, Xiao H, Cao
A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease.
BMC endocrine disorders 2020 1 20 (1): 18.
De Sousa Sunita M C, Manavis Jim, Feng Jinghua, Wang Paul, Schreiber Andreas W, Scott Hamish S, Torpy David
Molecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors.
Human pathology 2023 12 .
Eman Abdulfatah, Khaleel I Al-Obaidy, Dan Robinson, Yi-Mi Wu, Amer Heider, Muhammad T Idrees, Thomas M Ulbright, Lakshmi Pryia Kunju, Angela
The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.
Frontiers in endocrinology 2024 7 15 1356870.
Julian Sun, Lin Ding, Liping He, Hang Fu, Rui Li, Jing Feng, Jianjun Dong, Lin Li
Identification of Key Genes and Imbalanced SNAREs Assembly in the Comorbidity of Polycystic Ovary Syndrome and Depression.
Genes 2024 4 15 (4): .
Yi Cao, Weijing Wang, Xuxia Song, Qian Wen, Jing Xie, Dongfeng Zha
The spectrum of growth hormone excess in Carney complex and genotype-phenotype correlations.
The Journal of clinical endocrinology and metabolism 2024 4 .
Christina Tatsi, Georgia Pitsava, Fabio R Faucz, Meg Keil, Constantine A Stratak
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