Results 101 to 110 of about 118,592,744 (196)

The p.R249W Mutation in <i>LMNA</i>-Related Congenital Muscular Dystrophy Causes Nuclear Deformities and an Enrichment in Lamin A/C at the Ends of the Nucleus. [PDF]

Cells
Harvey C, Zhu Z, Han I, Cao K.
europepmc   +1 more source

Preliminary functional characterization of the LMNA c.929 A > G (p.Gln310Arg) variant identified in a patient with dilated cardiomyopathy. [PDF]

Hereditas
Han Z, Sheng Y, Sun H, Sun M, Dong H, Gong L, Wang C, Wang G, Zhong L.   +8 more
europepmc   +1 more source

SIRT1 Silences L1 Retrotransposons by Stabilizing Heterochromatin-Modifying Complexes. [PDF]

Aging Cell
Wang X, Li T, Tang H, Liu MX, Peng Q, Huang X, Mao Z, Jiang Y, Geng A.   +8 more
europepmc   +1 more source

Muscular dystrophy-associated lamin variants disrupt cellular organization through a nucleolar-ribosomal axis. [PDF]

Sci Adv
Ding X, Kumari S, F Gregory E, Starr DA, Luxton GWG.   +4 more
europepmc   +1 more source

Whole genome duplication through mitotic slippage causes nuclear instability. [PDF]

EMBO J
Gemble S, Budzyk M, Simon A, Lambuta R, Nanni L, Weiss N, Forest A, Miroshnikova Y, Scotto Di Carlo F, Marthiens V, Verdel C, Fang J, Desdouets C, Wickström SA, Ciriello G, Oricchio E, Almouzni G, Basto R.   +17 more
europepmc   +1 more source

The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific. [PDF]

JCI Insight
Sewerin S, Aurnhammer C, Hamed M, Revêchon G, Schönauer R, Findeisen C, Miehle K, Tesařo Vá Š, Georgomanolis T, Bergmann C, Wolff C, Kollár M, Akinci B, Araújo-Vilar D, Ceccarini G, Csajbók É, Gambineri A, Heni M, Scherer T, Štotl I, Sorkina E, Vantyghem MC, Vorona E, Wabitsch M, von Schnurbein J, Vatier C, Roume J, Reznik Y, Eriksson M, Antonin W, Vigouroux C, Halbritter J.   +31 more
europepmc   +1 more source

Patching up the nucleus: a novel role for PMLII in nuclear envelope stability. [PDF]

Nucleic Acids Res
Janssen AFJ, Knowles O, Britton S, Kumita JR, Deane JE, Spruijt E, Larrieu D.   +6 more
europepmc   +1 more source

An Epi(c) Path to LMNA Cardiomyopathy. [PDF]

JACC Basic Transl Sci
Wang Y, Rau CD.
europepmc   +1 more source

Change-of-function fibroblast growth factor receptor 3 mutations causing skeletal dysplasias. [PDF]

J Cell Commun Signal
Roy T, Feketova Z, Liu J, Krejci P, Hristova K.   +4 more
europepmc   +1 more source

Progerin cross-linking stiffens the nucleus and impairs mechanosensation in Hutchinson-Gilford progeria syndrome. [PDF]

J Cell Sci
Srivastava LK, Ghagre A, Duchastel-Vassaramva I, Ehrlicher AJ.   +3 more
europepmc   +1 more source