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
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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 +4 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
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
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Long-term follow-up of a case of bilateral elbow ulcers in a patient with Werner syndrome treated with pedicled radial forearm flaps [PDF]
Case Reports in Plastic Surgery & Hand SurgeryWerner syndrome is a rare autosomal recessive disorder caused by WRN gene mutations, leading to premature aging and genomic instability. Clinical symptoms include diabetes, skin lesions, and microvascular issues, with patients frequently developing ...
Yusuke Hayashibara +4 more
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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
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Do you know this syndrome? Werner syndrome [PDF]
Anais Brasileiros de Dermatologia, 2017 : Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice ...
Özlem Bilgiç
doaj +3 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 +2 more sources
NAD+ augmentation restores mitophagy and limits accelerated aging in Werner syndrome
Nature Communications, 2019 The molecular mechanisms of mitochondrial dysfunction in the premature ageing Werner syndrome were elusive. Here the authors show that NAD+ depletion-induced impaired mitophagy contributes to this phenomenon, shedding light on potential therapeutics.
Evandro Fei Fang +2 more
exaly +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 +2 more sources