A novel mutation in

Acromegaly / genetics Adult Carney Complex / genetics Cushing Syndrome / genetics Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics Female Humans Iran Mutation Myxoma / genetics Young Adult

Journal

Archives of endocrinology and metabolism
ISSN: 2359-4292
Titre abrégé: Arch Endocrinol Metab
Pays: Brazil
ID NLM: 101652058

Informations de publication

Date de publication:
03 Nov 2021
Historique:
pubmed: 4 5 2021
medline: 6 11 2021
entrez: 3 5 2021
Statut: ppublish

Résumé

Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in

Identifiants

DOI: 10.20945/2359-3997000000369 PMID: 33939912 PMC: PMC10065344
pubmed: 33939912
pii: 2359-3997000000369
doi: 10.20945/2359-3997000000369
pmc: PMC10065344
doi:
pii:

Substances chimiques

Cyclic AMP-Dependent Protein Kinase RIalpha Subunit 0
PRKAR1A protein, human 0

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

376-380

Références

J Card Surg. 2015 Jul;30(7):560-7
pubmed: 25996461
Pituitary. 2006;9(3):203-9
pubmed: 17001464
Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1257-63
pubmed: 19169478
Curr Opin Oncol. 2007 Jan;19(1):24-9
pubmed: 17133108
Ann Endocrinol (Paris). 2010 Dec;71(6):486-93
pubmed: 20850710
Endocr Relat Cancer. 2016 Sep;23(9):739-46
pubmed: 27535175
J Clin Endocrinol Metab. 1997 Apr;82(4):1274-8
pubmed: 9100606
Rev Endocr Metab Disord. 2016 Sep;17(3):367-371
pubmed: 27943004
J Clin Endocrinol Metab. 2000 Oct;85(10):3860-5
pubmed: 11061550
J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91
pubmed: 19293268
Medicine (Baltimore). 1985 Jul;64(4):270-83
pubmed: 4010501
Front Horm Res. 2013;41:50-62
pubmed: 23652670
Eur J Endocrinol. 2015 Oct;173(4):M85-97
pubmed: 26130139
Ann Intern Med. 1999 Oct 19;131(8):585-91
pubmed: 10523219
J Clin Endocrinol Metab. 2001 Sep;86(9):4041-6
pubmed: 11549623
Mol Genet Metab. 2003 Feb;78(2):83-92
pubmed: 12666684
Best Pract Res Clin Endocrinol Metab. 2010 Jun;24(3):389-99
pubmed: 20833331

Auteurs

Ali A Ghazi (AA)

Endocrine Research Center, Research Institute for Endocrine Sciences (RIES), Shahid Beheshti University of Medical Sciences, Tehran, Iran, aliamghazi@gmail.com.

Mohammad Hossein Mandegar (MH)

Section of Cardiothoracic Surgery, Tehran University of Medical Sciences, Tehran, Iran.

Mohammad Abazari (M)

Section of Cardiovascular Disorders, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Neda Behzadnia (N)

Lung Transplantation Research Center, National Institute of Tuberculosis and Lung Disease (NRILTD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Taraneh Sadeghian (T)

Section of Dermatology, Azad University of Medical Sciences; Consultant Dermatologist at Kasra General Hospital, Tehran, Iran.

Siamak Shariat Torbaghan (SS)

Department of Pathology, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Alireza Amirbaigloo (A)

Endocrinologist, Practicing at Private Practice, Karaj, Iran.

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Classifications MeSH

questionsmedicales.fr › Maladies endocriniennes › Maladies de l'hypophyse › Hyperpituitarisme › Acromégalie › A novel mutation in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A novel mutation in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Complexe de Carney › A novel mutation in
questionsmedicales.fr › Maladies endocriniennes › Maladies des surrénales › Hypercorticisme › Syndrome de Cushing › A novel mutation in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein-Serine-Threonine Kinases › Cyclic Nucleotide-Regulated Protein Kinases › Cyclic AMP-Dependent Protein Kinases › Cyclic AMP-Dependent Protein Kinase Type I › Cyclic AMP-Dependent Protein Kinase RIalpha Subunit › A novel mutation in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel mutation in
questionsmedicales.fr › Régions géographiques › Asie › Asie de l'Ouest › Moyen Orient › Iran › A novel mutation in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A novel mutation in
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs du tissu conjonctif et des tissus mous › Myxome › A novel mutation in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › A novel mutation in