0000000000336377

AUTHOR

A. Maciag

showing 4 related works from this author

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

2014

Background LMNA/C mutations have been linked to the premature aging syndrome Hutchinson’s progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, autosomal dominant partial lipodystrophy, and axonal neuropathy. Atrioventricular block (AVB) can be associated with several cardiac disorders and it can also be a highly heritable, primitive disease. One of the most common pathologies associated with AVB is dilated cardiomyopathy (DCM), which is characterized by cardiac dilatation and reduced systolic function. In this …

ProbandGeneticsExome sequencingAgingProgeriaLamin A/Cbusiness.industryResearchImmunologyDilated cardiomyopathymedicine.diseaseSudden deathLMNAMandibuloacral dysplasiaAgeingMedicineMissense mutationMuscular dystrophybusinessExome sequencingArrhythmiaAtrioventricular blockImmunityageing : IA
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CCDC 298540: Experimental Crystal Structure Determination

2006

Related Article: M.Makowski, M.Lisowski, A.Maciag, T.Lis|2006|Acta Crystallogr.,Sect.E:Struct.Rep.Online|62|o807|doi:10.1107/S1600536806002273

Space GroupCrystallographyN-(t-Butoxycarbonylglycyl-(Z)-alphabeta-dehydrophenylalanylglycyl-(E)-alphabeta-dehydrophenylalanyl)glycine methyl ester dihydrateCrystal SystemCrystal StructureCell ParametersExperimental 3D Coordinates
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CCDC 774082: Experimental Crystal Structure Determination

2010

Related Article: M.Makowski, M.Lisowski, A.Maciag, M.Wiktor, A.Szlachcic, T.Lis|2010|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|66|o119|doi:10.1107/S0108270110003094

Space GroupCrystallographyCrystal SystemCrystal StructureCell ParametersN-(2-((N-(2-((N-(t-Butoxycarbonyl)glycyl)amino)-3-phenylacryloyl)glycyl)amino)-3-phenylacryloyl)glycine methanol solvateExperimental 3D Coordinates
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CCDC 774083: Experimental Crystal Structure Determination

2010

Related Article: M.Makowski, M.Lisowski, A.Maciag, M.Wiktor, A.Szlachcic, T.Lis|2010|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|66|o119|doi:10.1107/S0108270110003094

Space GroupCrystallographyCrystal SystemCrystal StructureCell ParametersExperimental 3D CoordinatesN-(2-((N-(2-((N-(t-Butoxycarbonyl)glycyl)amino)-3-phenylacryloyl)glycyl)amino)-3-phenylacryloyl)glycine
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