Sequence analysis of coding regions of KCNJ5 gene in unilateral adrenal hyperplasia

Chinese Journal of Medical Genetics

Volumn 32, Issue 1, 2015, Pages 21-25

  Jingjing, Zhang ^a   Nanfang, Li ^a   Yannmg, Hu ^a   Dan, Shao ^a   Hai, Yang ^a   Ling, Zhou ^a   Jing, Hang ^a  

^a Xinjiang Clinical Medical Research Center for Hypertension   (China)

Author keywords

KCNJ5 gene; Missense mutation; Primary aldosteronism; Unilateral adrenal hyperplasia

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ5 PROTEIN; PROTEIN KINASE C; UNCLASSIFIED DRUG; G PROTEIN COUPLED INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ5 PROTEIN, HUMAN;

ADRENAL HYPERPLASIA; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; DNA SEQUENCE; GENETIC CODE; HUMAN; HUMAN TISSUE; INTRACELLULAR SPACE; MISSENSE MUTATION; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SOMATIC MUTATION; UNILATERAL ADRENAL HYPERPLASIA; ADULT; AGED; AMINO ACID SEQUENCE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENETICS; MALE; MIDDLE AGED; MOLECULAR GENETICS;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AGED; AMINO ACID SEQUENCE; FEMALE; G PROTEIN-COUPLED INWARDLY-RECTIFYING POTASSIUM CHANNELS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 84928983294     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2015.01.005     Document Type: Article

References (23)

1. Kaplan NM. The current epidemic of primary aldosteronism: causes and con. sequences[J]. J Hypertens, 2004, 22(5):863-869.
2. Gallay BJ, Ahmad S, Xu L, et al. Screening for primary aldosteronism without discontinuing hypertensive-medications: plasma aldosterone-renin ratio[J]. Am J Kidney Dis, 2001, 37(4):699-705.
3. Calhoun DA, Nishizaka MK, Zaman MA, et al. High prevalence of primary aldosteronism among black and white subjects with resistant hypertension [J]. Hypertension, 2002, 40(6):892-896.
4. Li NF, Li HJ, Wang HM, et al. Characteristics of left ventricular structural damage in patients with primary aldosteronism[J]. Chin J Endocrinal Metab, 2012, 28(2):117-120. (in Chinese)
5. Young WK Jr. Primary aldosteronism: update on diagnosis and treatment[J]. Endocrinologist, 1997, 7(4):213-221.
6. Bradley KK, Hatton WJ, Mason HS, et al. Kir 3. 1/3. 2 encodes and I (KACh)-Iike current in gastrointestinal myxocytcs[J]. Am J Physiol Gastrointcst Liver Physiol, 2000, 278(3):G289-G296.
7. Lu T, Jiang B. Inwardly rectifying potassium channels[J]. Chin J Cardiac Pacing Electrophysiol, 2009, 23(3):189-195. (in Chinese)
8. Kang YA, Hu YR, Li NF. Advances in research on G proteincoupled inward rectifier K+ channel gene [J]. Acta Acad Med Sin, 2012, 34(4):426-430. (in Chinese)
9. Li NF, Yang H, Zhang DL, Association of G1RK4 gene polymorphisms with essential hypertension in obese ethnics Uygur from southern Xinjiang[J]. Chin J Med Genet, 2014, 31(1):88-92. (in Chinese)
10. Li NF, Kang YA, Zhang DL. Association between G1RK4 gene polymorphisms and insulin resistance in Xinjiang Uygur popuIation[J]. Chin J Med Genet, 2012, 29(6):715-719. (in Chinese)
11. Choi M, Scholl Ul, Yue P, ct al. K+ Channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension[J]. Science, 2011, 331(6018):768-772.
12. Scholl Ul, Lifton RP. New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJS [J]. Curr Opin Nephrol Hypertens, 2013, 22(2):141-147.
13. Mulatero P, Monticone S, Rainey WE, et al. Role of KCNJS in familial and sporadic primary aldosteronism [J]. Nat Rev Kndocrinol, 2013, 9(2):104-112.
14. Tetso N, Takumi K, Sachiko S, et al. Comparative studies on clinical characteristics of aldosterone producing adenoma with or without the KCNJ5 mutations in 60 Japanese patients of primary aldosteronism (PA) [J]. Am J Hypertens, 2012, 25(12):1317-1318.
15. Omura M, Sasano H, Fujiwara T, et al. Unique cases of unilateral hyperaldosteronemia due to multiple adrenocortical micro-nodules, which can only be detected by selective adrenal venous sampling[J]. Metabolism, 2002, 51(3):350-355.
16. Taguchi R, Yamada M, Nakajima Y, et al. Expression and mutations of KCNJS mRNA in Japanese patients with aldosterone-producing adenomas[J]. J Clin Endocrinol Metab, 2012, 97(4):1311-1319.
17. Boulkroun S, Beuschlein F, Rossi GP, et al. Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism[J]. Hypertension, 2012, 59(3):592-598.
18. Azizan EA, Murthy M, Stowasser M, et al. Somatic mutations affecting the selectivity filter of KCNJ5 are frequent in 2 large unsclected collections of adrenal aldosteronomas [J]. Hypertension, 2012, 59(3):587-591.
19. Scholl Ul, Nelson-Williams C N, Yue P, et al. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5 [J]. Proc Natl Acad Sci U S A, 2012, 109(7):2533-2538.
20. 2+ sensor proteins[J]. Cell Tissue Res, 2009, 335(2):301-316.
21. Williams TA, Monticone S, Crudo V, et al. Visinin-like 1 is upregulated in aldosterone-producing adenomas with KCNJ5 mutations and protects from calcium-induced apoptosis [J]. Hypertension, 2012, 59(4):833-839.
22. Mao J, Wang X, Chen F, et al. Molecular basis for the inhibition of G protein-coupled inward rectifier K channels by protein kinase C. Proc Natl Acad Sci U S A, 2004, 101(4):1087-1092.
23. Zhang X, Geng X, Chen XJ, et al. Modulation mechanism of PKC upon inwardly rectifying potassium channels [J]. Acad J Second Mil Med Univ, 2009, 30(8):956-960. (in Chinese)