메뉴 건너뛰기




Volumn 36, Issue 8, 2013, Pages 2311-2316

Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; GLIBENCLAMIDE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; SULFONYLUREA; INWARDLY RECTIFYING POTASSIUM CHANNEL; SULFONYLUREA DERIVATIVE;

EID: 84885981289     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc12-2166     Document Type: Article
Times cited : (31)

References (18)
  • 1
    • 2342633204 scopus 로고    scopus 로고
    • Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    • Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl JMed 2004;350:1838-1849
    • (2004) N Engl JMed , vol.350 , pp. 1838-1849
    • Gloyn, A.L.1    Pearson, E.R.2    Antcliff, J.F.3
  • 2
    • 33745288813 scopus 로고    scopus 로고
    • KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
    • Gloyn AL, Diatloff-Zito C, Edghill EL, et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet 2006;14:824-830
    • (2006) Eur J Hum Genet , vol.14 , pp. 824-830
    • Gloyn, A.L.1    Diatloff-Zito, C.2    Edghill, E.L.3
  • 3
    • 35748967277 scopus 로고    scopus 로고
    • Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11
    • Mlynarski W, Tarasov AI, Gach A, et al. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.Nat Clin Pract Neurol 2007;3:640-645
    • (2007) Nat Clin Pract Neurol , vol.3 , pp. 640-645
    • Mlynarski, W.1    Tarasov, A.I.2    Gach, A.3
  • 4
    • 33846008028 scopus 로고    scopus 로고
    • Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: Evidence for improvement in insulin sensitivity
    • Malecki MT, Skupien J, Klupa T, et al. Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity. Diabetes Care 2007;30:147-149
    • (2007) Diabetes Care , vol.30 , pp. 147-149
    • Malecki, M.T.1    Skupien, J.2    Klupa, T.3
  • 5
    • 71849102802 scopus 로고    scopus 로고
    • 99mTc-labelled radiopharmaceuticals, version 2
    • Kapucu OL, Nobili F, Varrone A, et al. EANM procedure guideline for brain perfusion SPECT using 99mTc-labelled radiopharmaceuticals, version 2. Eur J Nucl Med Mol Imaging 2009;36:2093-2102
    • (2009) Eur J Nucl Med Mol Imaging , vol.36 , pp. 2093-2102
    • Kapucu, O.L.1    Nobili, F.2    Varrone, A.3
  • 7
    • 33645854935 scopus 로고    scopus 로고
    • Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels
    • Tammaro P, Proks P, Ashcroft FM. Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels. J Physiol 2006;571:3-14
    • (2006) J Physiol , vol.571 , pp. 3-14
    • Tammaro, P.1    Proks, P.2    Ashcroft, F.M.3
  • 8
    • 41849115186 scopus 로고    scopus 로고
    • A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications
    • Tammaro P, Flanagan SE, Zadek B, et al. A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications. Diabetologia 2008;51:802-810
    • (2008) Diabetologia , vol.51 , pp. 802-810
    • Tammaro, P.1    Flanagan, S.E.2    Zadek, B.3
  • 9
    • 78449232947 scopus 로고    scopus 로고
    • Seattle (WA): Allen Institute for Brain Science
    • Allen Brain Atlas Resources [Internet]. Seattle (WA): Allen Institute for Brain Science. 2009. Available from http://www.brain-map.org. Accessed 21 July 2012
    • (2009) Allen Brain Atlas Resources [Internet]
  • 10
    • 77954840889 scopus 로고    scopus 로고
    • Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin
    • Clark RH, McTaggart JS, Webster R, et al. Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin. Science 2010;329: 458-461
    • (2010) Science , vol.329 , pp. 458-461
    • Clark, R.H.1    McTaggart, J.S.2    Webster, R.3
  • 11
    • 40849139200 scopus 로고    scopus 로고
    • The G53Dmutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy
    • Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F. The G53Dmutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. J Clin Endocrinol Metab 2008;93:1054-1061
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 1054-1061
    • Koster, J.C.1    Cadario, F.2    Peruzzi, C.3    Colombo, C.4    Nichols, C.G.5    Barbetti, F.6
  • 12
    • 33847363327 scopus 로고    scopus 로고
    • Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, earlyonset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene
    • Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, earlyonset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia 2006;49:2559-2563
    • (2006) Diabetologia , vol.49 , pp. 2559-2563
    • Slingerland, A.S.1    Nuboer, R.2    Hadders-Algra, M.3    Hattersley, A.T.4    Bruining, G.J.5
  • 13
    • 84870051901 scopus 로고    scopus 로고
    • Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation
    • Battaglia D, Lin YW, Brogna C, et al. Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation. Pediatr Diabetes 2012;13:656-660
    • (2012) Pediatr Diabetes , vol.13 , pp. 656-660
    • Battaglia, D.1    Lin, Y.W.2    Brogna, C.3
  • 14
    • 40049100688 scopus 로고    scopus 로고
    • Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation
    • Slingerland AS, Hurkx W, Noordam K, et al. Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med 2008;25: 277-281
    • (2008) Diabet Med , vol.25 , pp. 277-281
    • Slingerland, A.S.1    Hurkx, W.2    Noordam, K.3
  • 15
    • 33746686369 scopus 로고    scopus 로고
    • Neonatal Diabetes International Collaborative Group. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
    • Pearson ER, Flechtner I, Njølstad PR, et al.
    • Pearson ER, Flechtner I, Njølstad PR, et al.; Neonatal Diabetes International Collaborative Group. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006;355:467-477
    • (2006) N Engl J Med , vol.355 , pp. 467-477
  • 16
    • 33751089560 scopus 로고    scopus 로고
    • Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes
    • Girard CA, Shimomura K, Proks P, et al. Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. Pflugers Arch 2006;453:323-332
    • (2006) Pflugers Arch , vol.453 , pp. 323-332
    • Girard, C.A.1    Shimomura, K.2    Proks, P.3
  • 17
    • 33748288147 scopus 로고    scopus 로고
    • Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects
    • Shimomura K, Girard CA, Proks P, et al. Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Diabetes 2006;55:1705-1712
    • (2006) Diabetes , Issue.55 , pp. 1705-1712
    • Shimomura, K.1    Girard, C.A.2    Proks, P.3
  • 18
    • 24944501418 scopus 로고    scopus 로고
    • Functional effects of KCNJ11 mutations causing neonatal diabetes: Enhanced activation by MgATP
    • Proks P, Girard C, Ashcroft FM. Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Hum Mol Genet 2005;14:2717-2726
    • (2005) Hum Mol Genet , vol.14 , pp. 2717-2726
    • Proks, P.1    Girard, C.2    Ashcroft, F.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.