458 related articles for article (PubMed ID: 29047356)
1. Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene.
Marian AJ
BMC Med Genet; 2017 Oct; 18(1):116. PubMed ID: 29047356
[TBL] [Abstract][Full Text] [Related]
2. Looking at New Unexpected Disease Targets in
Mosbah H; Vatier C; Boccara F; Jéru I; Lascols O; Vantyghem MC; Fève B; Donadille B; Sarrazin E; Benabbou S; Inamo J; Ederhy S; Cohen A; Neraud B; Richard P; Picard F; Christin-Maitre S; Redheuil A; Wahbi K; Vigouroux C
Cells; 2020 Mar; 9(3):. PubMed ID: 32245113
[TBL] [Abstract][Full Text] [Related]
3. p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
Kirschner J; Brune T; Wehnert M; Denecke J; Wasner C; Feuer A; Marquardt T; Ketelsen UP; Wieacker P; Bönnemann CG; Korinthenberg R
Ann Neurol; 2005 Jan; 57(1):148-51. PubMed ID: 15622532
[TBL] [Abstract][Full Text] [Related]
4. Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
Madej-Pilarczyk A; Rosińska-Borkowska D; Rekawek J; Marchel M; Szaluś E; Jabłońska S; Hausmanowa-Petrusewicz I
Am J Med Genet A; 2009 Nov; 149A(11):2387-92. PubMed ID: 19842191
[TBL] [Abstract][Full Text] [Related]
5. An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y; De Sandre-Giovannoli A; Vera EV; Navarro CL; Elalaoui SC; Tajir M; Lévy N; Sefiani A
Am J Med Genet A; 2012 Nov; 158A(11):2881-7. PubMed ID: 22991222
[TBL] [Abstract][Full Text] [Related]
6. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
Hisama FM; Lessel D; Leistritz D; Friedrich K; McBride KL; Pastore MT; Gottesman GS; Saha B; Martin GM; Kubisch C; Oshima J
Am J Med Genet A; 2011 Dec; 155A(12):3002-6. PubMed ID: 22065502
[TBL] [Abstract][Full Text] [Related]
7. Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
Csoka AB; Cao H; Sammak PJ; Constantinescu D; Schatten GP; Hegele RA
J Med Genet; 2004 Apr; 41(4):304-8. PubMed ID: 15060110
[No Abstract] [Full Text] [Related]
8. DNA Damage Response/TP53 Pathway Is Activated and Contributes to the Pathogenesis of Dilated Cardiomyopathy Associated With LMNA (Lamin A/C) Mutations.
Chen SN; Lombardi R; Karmouch J; Tsai JY; Czernuszewicz G; Taylor MRG; Mestroni L; Coarfa C; Gurha P; Marian AJ
Circ Res; 2019 Mar; 124(6):856-873. PubMed ID: 30696354
[TBL] [Abstract][Full Text] [Related]
9. Nuclear Abnormalities in
Wilke MVMB; Wick M; Schwab TL; Starosta RT; Clark KJ; Connolly HM; Klee EW
Genes (Basel); 2024 Jan; 15(1):. PubMed ID: 38255001
[TBL] [Abstract][Full Text] [Related]
10. A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I; Patni N; Ueda M; Sorkina E; Valerio CM; Cochran E; Brown RJ; Peeden J; Tikhonovich Y; Tiulpakov A; Stender SRS; Klouda E; Tayeh MK; Innis JW; Meyer A; Lal P; Godoy-Matos AF; Teles MG; Adams-Huet B; Rader DJ; Hegele RA; Oral EA; Garg A
J Clin Endocrinol Metab; 2018 Mar; 103(3):1005-1014. PubMed ID: 29267953
[TBL] [Abstract][Full Text] [Related]
11. Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.
Luo DQ; Wang XZ; Meng Y; He DY; Chen YM; Ke ZY; Yan M; Huang Y; Chen DF
BMC Pediatr; 2014 Oct; 14():256. PubMed ID: 25286833
[TBL] [Abstract][Full Text] [Related]
12. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
Cao H; Hegele RA
J Hum Genet; 2003; 48(5):271-274. PubMed ID: 12768443
[TBL] [Abstract][Full Text] [Related]
13. Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.
Forleo C; Carmosino M; Resta N; Rampazzo A; Valecce R; Sorrentino S; Iacoviello M; Pisani F; Procino G; Gerbino A; Scardapane A; Simone C; Calore M; Torretta S; Svelto M; Favale S
PLoS One; 2015; 10(4):e0121723. PubMed ID: 25837155
[TBL] [Abstract][Full Text] [Related]
14. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D; Ozel AB; Campbell SE; Saadi A; Arlt MF; McSweeney KM; Plaiasu V; Szakszon K; Szőllős A; Rusu C; Rojas AJ; Lopez-Valdez J; Thiele H; Nürnberg P; Nickerson DA; Bamshad MJ; Li JZ; Kubisch C; Glover TW; Gordon LB
Hum Genet; 2018 Dec; 137(11-12):921-939. PubMed ID: 30450527
[TBL] [Abstract][Full Text] [Related]
15. A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
Araújo-Vilar D; Lado-Abeal J; Palos-Paz F; Lattanzi G; Bandín MA; Bellido D; Domínguez-Gerpe L; Calvo C; Pérez O; Ramazanova A; Martínez-Sánchez N; Victoria B; Costa-Freitas AT
Clin Endocrinol (Oxf); 2008 Jul; 69(1):61-8. PubMed ID: 18031308
[TBL] [Abstract][Full Text] [Related]
16. Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.
Zhang L; Shen H; Zhao Z; Bing Q; Hu J
Mol Med Rep; 2015 Oct; 12(4):5065-71. PubMed ID: 26165385
[TBL] [Abstract][Full Text] [Related]
17. A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
Van Esch H; Agarwal AK; Debeer P; Fryns JP; Garg A
J Clin Endocrinol Metab; 2006 Feb; 91(2):517-21. PubMed ID: 16278265
[TBL] [Abstract][Full Text] [Related]
18. Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A; Worman HJ; Zinn-Justin S
FEBS J; 2021 May; 288(9):2757-2772. PubMed ID: 32799420
[TBL] [Abstract][Full Text] [Related]
19. LMNA mutation in progeroid syndrome in association with strokes.
Gonzalez-Quereda L; Delgadillo V; Juan-Mateu J; Verdura E; Rodriguez MJ; Baiget M; Pineda M; Gallano P
Eur J Med Genet; 2011; 54(6):e576-9. PubMed ID: 21791255
[TBL] [Abstract][Full Text] [Related]
20. p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.
Guo H; Luo N; Hao F; Bai Y
Gene; 2014 Aug; 546(1):35-9. PubMed ID: 24861648
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]