References in periodicals archive ?
2-4, 8, and 15-18, LMNA gene mutations were screened via direct sequencing of polymerase chain reaction (PCR) products.
Hegele, "LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)," Journal of Human Genetics, vol.
Different mutations in Lmna can produce different diseases, involving the skeleton, muscle, fat and many types of cell and tissue abnormalities, prompting lamin A/C functional diversity.
Chief researcher Professor Chris Hutchison said: "Mutations in LMNA cause more diseases, such as muscular dystrophy, than any other.
. The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together.
To explain this phenomenon Steen and Collas have suggested the presence of a signaling mechanism that derepresses the LMNA gene in response to a mislocalization of lamin B at the end of mitosis.
We describe a patient with limb girdle muscular dystrophy with evidence of a D596N novel mutation of the LMNA gene.
2003), the Lamin A/C gene (LMNA) (De Sandre-Giovannoli et al.
Lamins A and C are coded by a single developmentally regulated gene designated LMNA; lamin C is a splice variant and lacks the carboxyl terminus present in lamin A.
Mutations on the LMNA or lamin A gene make the lamin A protein, the structural scaffolding that holds the nucleus together, unstable.
le Dour et al., "LMNA mutations induce a non-inflammatory fibrosis and a brown fat-like dystrophy of enlarged cervical adipose tissue," The American Journal of Pathology, vol.