IJMMS_2025v15n1

International Journal of Molecular Medical Science, 2025, Vol.15, No.1, 42-53 http://medscipublisher.com/index.php/ijmms 50 Bartos D., Duchatelet S., Burgess D., Klug D., Denjoy I., Peat R., Lupoglazoff J., Fressart V., Berthet M., Ackerman M., January C., Guicheney P., and Delisle B., 2011, R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation, Heart Rhythm, 8(1): 48-55. https://doi.org/10.1016/j.hrthm.2010.09.010 Bassat O., Carmon V., Hanukoglu A., Ganon L., Massalha E., Holtzman E., Farfel Z., and Mayan H., 2017, Familial Hyperkalemia and hypertension (FHHt) and KLHL3: description of a family with a new recessive mutation (S553L) compared to a family with a dominant mutation, Q309R, with analysis of urinary sodium chloride cotransporter, Nephron, 137: 77-84. https://doi.org/10.1159/000475825 Blair E., Redwood C., Ashrafian H., Oliveira M., Broxholme J., Kerr B., Salmon A., Östman-Smith I., and Watkins H., 2001, Mutations in the gamma (2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis, Human Molecular Genetics, 10(11): 1215-1220. https://doi.org/10.1093/HMG/10.11.1215 Bundgaard H., Havndrup O., Andersen P., Larsen L., Brandt N., Vuust J., Kjeldsen K., and Christiansen M., 1999, Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain, Journal of Molecular and Cellular Cardiology, 31(4): 745-750. https://doi.org/10.1006/JMCC.1998.0911 Cai X.P., 2024, Applications of gene editing and gene therapy in the treatment of genetic disorders, International Journal of Molecular Medical Science, 14(1): 1-7. https://doi.org/10.5376/ijmms.2024.14.0001 Carlus S., Almuzaini I., Karthikeyan M., Loganathan L., Al-Harbi G., Carlus F., Al-Mazroea A., Morsy M., Abo-Haded H., Abdallah A., and Al-Harbi K., 2020, A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs, European Review for Medical and Pharmacological Sciences, 24(14): 7732-7744. https://doi.org/10.26355/eurrev_202007_22299 Deng Z., Morse J., Slager S., Cuervo N., Moore K., Venetos G., Kalachikov S., Cayanis E., Fischer S., Barst R., Hodge S., and Knowles J., 2000, Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene, American Journal of Human Genetics, 67(3): 737-744. https://doi.org/10.1086/303059 Futema M., Taylor-Beadling A., Williams M., and Humphries S., 2021, Genetic testing for familial hypercholesterolemia-past, present, and future, Journal of Lipid Research, 62; 100139. https://doi.org/10.1016/j.jlr.2021.100139 García-Castro M., Reguero J., Batalla A., Díaz-Molina B., Gonzalez P., Álvarez V., Cortina A., Cubero G., and Coto E., 2003, Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients, Clinical Chemistry, 49(8): 1279-1285. https://doi.org/10.1373/49.8.1279 Gidding S., Champagne M., Ferranti S., Defesche J., Ito M., Knowles J., McCrindle B., Raal F., Rader D., Santos R., Lopes-Virella M., Watts G., and Wierzbicki A., 2015, The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association, Circulation, 132(22): 2167-2192. https://doi.org/10.1161/CIR.0000000000000297 Gruver E.J., Fatkin D., Dodds G., Kisslo J., Maron B., Seidman J., and Seidman C., 1999, Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation, The American Journal of Cardiology, 83(12A): 13H-18H. https://doi.org/10.1016/S0002-9149(99)00251-9 Haluza R., Halouzkova S., Bunček M., Smid O., and Kvasnička J., 2001, Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg-->Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: a case report, Experimental and Clinical Cardiology, 6(4): 223-227. Hinderhofer K., Fischer C., Pfarr N., Szamalek-Hoegel J., Lichtblau M., Nagel C., Egenlauf B., Ehlken N., and Grünig E., 2014, Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years, PLoS ONE, 9(3): e91374. https://doi.org/10.1371/journal.pone.0091374 Picard H.L.D., Latreche S., Thurairajasingam N., Auzan C., Fiquet B., Frayssinet R., Garnier A., Jendruchova V., Lobbedez T., Martorell L., Mortier G., Pela I., Taque S., Vargas-Poussou R., Clauser E., and Jeunemaitre X., 2015, 6C.01: CULLIN-3 mutations leading to skipping of EXON 9 are responsible for severe cases of familial hyperkalaemic hypertension, Journal of Hypertension, 33: e79. https://doi.org/10.1097/01.hjh.0000467565.88089.a2 Huan T., Esko T., Peters M., Pilling L., Schramm K., Schurmann C., Chen B., Liu C., Joehanes R., Johnson A., Yao C., Ying S., Courchesne P., Milani L., Raghavachari N., Wang R., Liu P., Reinmaa E., Dehghan A., Hofman A., Uitterlinden A., Hernandez D., Bandinelli S., Singleton, A., Melzer D., Metspalu A., Carstensen M., Grallert H., Herder C., Meitinger T., Peters A., Roden M., Waldenberger M., Dörr M., Felix S., Zeller T., Vasan R., O’Donnell C., Munson P.J., Yang X., Prokisch H., Völker U., Meurs J., Ferrucci L., and Levy D., 2015, A meta-analysis of gene expression signatures of blood pressure and hypertension, PLoS Genetics, 11(3): e1005035. https://doi.org/10.1371/journal.pgen.1005035

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