Prelamin-A/C [Cleaved into: Lamin-A/C
Definition:
References:
-
[1]. Lishan Chen, et al. LMNA mutations in atypical Werner's syndrome. Lancet. 2003 Aug 9;362(9382):440-5. [Content Brief]
[2]. L Renou, et al. Heart-hand syndrome of Slovenian type: a new kind of laminopathy. J Med Genet. 2008 Oct;45(10):666-71. [Content Brief]
[3]. Susana Quijano-Roy, et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86. [Content Brief]
[4]. Giuseppe Novelli, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet. 2002 Aug;71(2):426-31. [Content Brief]
[5]. G Bonne, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999 Mar;21(3):285-8. [Content Brief]
[6]. H Cao, et al. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000 Jan 1;9(1):109-12. [Content Brief]
[7]. Wen Li, et al. The nucleoskeleton protein IFFO1 immobilizes broken DNA and suppresses chromosome translocation during tumorigenesis. Nat Cell Biol. 2019 Oct;21(10):1273-1285. [Content Brief]
[8]. Megan S Kane, et al. LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. Am J Med Genet A. 2013 Jul;161A(7):1599-611. [Content Brief]
[9]. D Fatkin, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999 Dec 2;341(23):1715-24. [Content Brief]
[10]. Claire L Navarro, et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004 Oct 15;13(20):2493-503. [Content Brief]
[11]. Adriano Jimenez-Escrig, et al. Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. Muscle Nerve. 2012 Apr;45(4):605-10. [Content Brief]
[12]. A Muchir, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet. 2000 May 22;9(9):1453-9. [Content Brief]
[13]. Annachiara De Sandre-Giovannoli, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet. 2002 Mar;70(3):726-36. [Content Brief]