Concepedia

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Gulsum Kayman-Kurekci, Beril Talim, Petek Korkusuz, Nilüfer Sayar, Türkan Sarıoğlu, İbrahim Öncel, Parisa Sharafi, Hülya Gündeşli, Burcu Balcı-Hayta, Nuhan Puralı,

Neuromuscular Disorders · 2014 · 81 citations · 27 references

DOIFull text

Open access

Concepts

References

27

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Kenneth J. Livak, Thomas D. Schmittgen · Methods · 2001 · 181.5K citations

, , +9

Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

Roland Foisner, Larry Gerace · Cell · 1993 · 539 citations

, , +16

Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

Qiuping Zhang, Cornelia Bethmann, Nathalie F. Worth et al. · Human Molecular Genetics · 2007 · 538 citations · Full text

, , +17

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Gisèle Bonne, Eugenio Mercuri, Antoine Muchir et al. · Annals of Neurology · 2000 · 491 citations

, , +14

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

Eloisa Arbustini, Andrea Pilotto, Alessandra Repetto et al. · Journal of the American College of Cardiology · 2002 · 359 citations

, , +15