Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome [PDF]
Clinical Epigenetics, 2017 Background Werner syndrome is a progeroid disorder characterized by premature age-related phenotypes. Although it is well established that autosomal recessive mutations in the WRN gene is responsible for Werner syndrome, the molecular alterations that ...
T. Guastafierro +11 more
doaj +5 more sources
Accelerated epigenetic aging in Werner syndrome [PDF]
Aging, 2017 Individuals suffering from Werner syndrome (WS) exhibit many clinical signs of accelerated aging. While the underlying constitutional mutation leads to accelerated rates of DNA damage, it is not yet known whether WS is also associated with an increased ...
George M Martin +2 more
exaly +4 more sources
WRN promotes bone development and growth by unwinding SHOX-G-quadruplexes via its helicase activity in Werner Syndrome [PDF]
Nature Communications, 2022 Short stature is a hallmark of Werner Syndrome, but the underlying mechanisms are not well studied. Here they report that WRN regulates bone development and growth by opening SHOX-G-quadruplexes via its helicase activity both in vitro and in vivo.
Yuyao Tian +9 more
doaj +3 more sources
Optical coherence tomography findings in three patients with Werner syndrome [PDF]
BMC Ophthalmology, 2022 Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as ...
Tatsuya Nagai +7 more
doaj +2 more sources
Management of cataract in Werner syndrome
Indian Journal of Ophthalmology, 2018 Werner syndrome (WS) is a rare progressive disorder. It is characterized by the appearance of unusually accelerated aging (progeria) including bilateral senile cataract. Here, we report a successful management of hypermature cataract in WS.
Rakhi Kusumesh +3 more
doaj +4 more sources
Síndrome de Werner associada a quadro esclerodermiforme: relato de caso e revisão da literatura Werner's syndrome associated with scleroderma-like syndrome: case report and literature revision [PDF]
Revista Brasileira de Reumatologia, 2008 A síndrome de Werner é uma doença autossômica recessiva rara associada a envelhecimento precoce, cujo quadro cutâneo deve ser distinguido daquele encontrado na esclerose sistêmica (ES).
Cristiane Kayser +3 more
doaj +4 more sources
Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome [PDF]
Frontiers in Endocrinology, 2022 Werner syndrome is an autosomal recessive rare disease caused by a WRN gene mutation, which is rarely reported in the Chinese population. We report the clinical and genetic data of a Chinese patient with Werner syndrome.
Huifang Peng +7 more
doaj +2 more sources
Werner syndrome presenting as early‐onset diabetes: A case report [PDF]
Journal of Diabetes Investigation, 2022 Werner syndrome is a rare autosomal recessive premature progeroid syndrome caused by mutations in the WRN gene. It is characterized by early onset of age‐related diseases, such as cataracts, atherosclerosis, diabetes mellitus, osteoporosis and ...
Xiaoli Wang +4 more
doaj +2 more sources
BioMed Research International, 2002 Werner syndrome is a premature aging disease caused by the mutation in the WRN gene. The cloning and characterization of the WRN gene and its product allows investigators to study the disease and the human aging process at molecular level. This review summarizes the recent progresses on various aspects of the WRN research including functional analysis ...
Lishan Chen, Junko Oshima
openalex +4 more sources
Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN [PDF]
Acta Medica LituanicaBackground. Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases.
Jovita Patricija Druta +3 more
doaj +2 more sources