Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations [PDF]
Gene-poor human chromosomes are reproducibly found at the nuclear periphery in proliferating cells. There are a number of inner nuclear envelope proteins that may have roles in chromosome location and anchorage, e.g. emerin and A-type lamins.
Bridger, JM+3 more
core +1 more source
Retinopathy of prematurity: age at onset. [PDF]
The age at which retinopathy of prematurity was first seen was determined in 143 infants. In all, the initial ophthalmological examination was normal. Birth weights varied from 630 to 2700 g and gestational ages from 24.5 to 40.0 weeks. The median postnatal age at which acute retinopathy of prematurity was first seen was 51 and 40 days for those less ...
M I Levene, Y K Ng, A R Fielder
openaire +3 more sources
From the Rarest to the Most Common: Insights from Progeroid Syndromes into Skin Cancer and Aging [PDF]
Despite their rarity, diseases of premature aging, or “progeroid” syndromes, have provided important insights into basic mechanisms that may underlie cancer and normal aging.
Capell, Brian C.+2 more
core +1 more source
Long-term exposure to polystyrene microplastics triggers premature testicular aging
Background Plastic pollution is greatly serious in the ocean and soil. Microplastics (MPs) degraded from plastic has threatened animals and humans health. The accumulation of MPs in the tissues and blood in animals and humans has been found.
Deyi Wu+3 more
doaj +1 more source
The premature ageing syndromes: insights into the ageing process [PDF]
Ageing in man results from a complex interaction of genetic and environmental factors. Many overlapping and sometimes conflicting theories of ageing exist and the emergence of a unified theory still seems unlikely. Experimental studies of senescence are difficult to design because of the variable effect of diseases and other extrinsic factors.
Christopher Dyer, Alan J. Sinclair
openaire +2 more sources
An aging evaluation of the bearing performances of glass fiber composite laminate in salt spray fog environment [PDF]
The aim of the present paper is to assess the bearing performance evolution of pinned, glass-composite laminates due to environmental aging in salt-spray fog tests.
Bruzzaniti P. G.+4 more
core +1 more source
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
The Consideration of Pseudoxanthoma Elasticum as a Progeria Syndrome
Background: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette sub-family C member 6 (ABCC6) gene.
Janina Tiemann+7 more
doaj +1 more source
Progranulin contributes to endogenous mechanisms of pain defense after nerve injury in mice [PDF]
Progranulin haploinsufficiency is associated with frontotemporal dementia in humans. Deficiency of progranulin led to exaggerated inflammation and premature aging in mice.
Albuquerque, Boris+5 more
core +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas+24 more
wiley +1 more source