Hutchinson-Gilford progeria syndrome (HGPS) and Werner's syndrome are representative types of progeroid syndrome. LMNA (Lamin A/C) gene mutation with atypical Werner's syndrome have recently been reported. Atypical Werner's syndrome with the severe metabolic complications, the extent of the lipodystrophy is associated with A133L mutation in the LMNA gene and these patients present with phenotyp...

oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. furthermore, central nervous system (cns) abnormalities can also be part of this developmental disorder. at least 13 forms of ofds based on their pattern of signs and symptoms have been identified so far.  type 1 which is now considered to be a...

Ehlers-Danlos syndrome (EDS) is a clinically heterogeneous groupof inherited disorders with ten different types, all involving agenetic defect in collagen and connective-tissue synthesis andstructure that affecting the skin, joints, and blood vessels. EDStype VIA, a very rare kyphoscoliotic type, is autosomal recessiveand clinically characterized by soft extensible skin, laxity ofjoints and kyp...

NUCLEAR R1BONUCLEOPROTEIN PA TICLES .................................................................... 461 Evidence for, and lsolation of, hnRNP Particles ....................................................... 461 General Structural Features of hnRNP articles ...................................................... 467 Proteins of hnRNP Particles ..................................................

TLR signaling is associated with the transcription of various proinflammatory cytokines, including TNF-α, IL-6, and IL-1β. After transcription, the mRNA of these proinflammatory cytokines needs to be tightly controlled at the posttranscriptional level to achieve an optimal expression. However, the precise mechanism of posttranscriptional regulation is not fully understood. In the current study,...

HYPERACTIVITY is a term currently employed to describe a heterogeneous group of children who exhibit overactivity, irritability, impulsivity and attentional deficits. The recent interest in this syndrome results from the difficulty that these children experience in adjusting to the expectations of their environment, at home, in school with their peer group, and the possible higher risk of emoti...