Below are the most recent publications written about "Chromosomes, Human, Pair 4" by people in Profiles.
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Salsi V, Losi F, Salani M, Kaufman PD, Tupler R. Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length. Clin Epigenetics. 2025 May 04; 17(1):73.
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Pini S, Napoli FM, Tagliafico E, La Marca A, Bertucci E, Salsi V, Tupler R. De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy. Clin Genet. 2023 02; 103(2):242-246.
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Rodolico C, Politano L, Portaro S, Murru S, Boccone L, Sera F, Passamano L, Brizzi T, Tupler R. Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy. Eur J Paediatr Neurol. 2020 Jul; 27:25-29.
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DeSimone AM, Pakula A, Lek A, Emerson CP. Facioscapulohumeral Muscular Dystrophy. Compr Physiol. 2017 Sep 12; 7(4):1229-1279.
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Lubitz SA, Lunetta KL, Lin H, Arking DE, Trompet S, Li G, Krijthe BP, Chasman DI, Barnard J, Kleber ME, D?rr M, Ozaki K, Smith AV, M?ller-Nurasyid M, Walter S, Agarwal SK, Bis JC, Brody JA, Chen LY, Everett BM, Ford I, Franco OH, Harris TB, Hofman A, K??b S, Mahida S, Kathiresan S, Kubo M, Launer LJ, MacFarlane PW, Magnani JW, McKnight B, McManus DD, Peters A, Psaty BM, Rose LM, Rotter JI, Silbernagel G, Smith JD, Sotoodehnia N, Stott DJ, Taylor KD, Tomaschitz A, Tsunoda T, Uitterlinden AG, Van Wagoner DR, V?lker U, V?lzke H, Murabito JM, Sinner MF, Gudnason V, Felix SB, M?rz W, Chung M, Albert CM, Stricker BH, Tanaka T, Heckbert SR, Jukema JW, Alonso A, Benjamin EJ, Ellinor PT. Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese. J Am Coll Cardiol. 2014 Apr 01; 63(12):1200-1210.
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Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain. 2013 Nov; 136(Pt 11):3408-17.
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Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet. 2012 Apr 06; 90(4):628-35.
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Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. J Med Genet. 2012 Mar; 49(3):171-8.
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Schnabel RB, Kerr KF, Lubitz SA, Alkylbekova EL, Marcus GM, Sinner MF, Magnani JW, Wolf PA, Deo R, Lloyd-Jones DM, Lunetta KL, Mehra R, Levy D, Fox ER, Arking DE, Mosley TH, M?ller-Nurasyid M, Young TR, Wichmann HE, Seshadri S, Farlow DN, Rotter JI, Soliman EZ, Glazer NL, Wilson JG, Breteler MM, Sotoodehnia N, Newton-Cheh C, K??b S, Ellinor PT, Alonso A, Benjamin EJ, Heckbert SR. Large-scale candidate gene analysis in whites and African Americans identifies IL6R polymorphism in relation to atrial fibrillation: the National Heart, Lung, and Blood Institute's Candidate Gene Association Resource (CARe) project. Circ Cardiovasc Genet. 2011 Oct; 4(5):557-64.
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Forlani G, Giarda E, Ala U, Di Cunto F, Salani M, Tupler R, Kilstrup-Nielsen C, Landsberger N. The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. Hum Mol Genet. 2010 Aug 15; 19(16):3114-23.