Did you mean: werner s syndrome
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Ageing Research Reviews Jan 2017Werner syndrome (WS) is a prototypical segmental progeroid syndrome characterized by multiple features consistent with accelerated aging. It is caused by null mutations... (Review)
Review
Werner syndrome (WS) is a prototypical segmental progeroid syndrome characterized by multiple features consistent with accelerated aging. It is caused by null mutations of the WRN gene, which encodes a member of the RECQ family of DNA helicases. A unique feature of the WRN helicase is the presence of an exonuclease domain in its N-terminal region. Biochemical and cell biological studies during the past decade have demonstrated involvements of the WRN protein in multiple DNA transactions, including DNA repair, recombination, replication and transcription. A role of the WRN protein in telomere maintenance could explain many of the WS phenotypes. Recent discoveries of new progeroid loci found in atypical Werner cases continue to support the concept of genomic instability as a major mechanism of biological aging. Based on these biological insights, efforts are underway to develop therapeutic interventions for WS and related progeroid syndromes.
Topics: Aging, Premature; DNA Repair; DNA Replication; Exodeoxyribonucleases; Humans; Mutation; Werner Syndrome; Werner Syndrome Helicase
PubMed: 26993153
DOI: 10.1016/j.arr.2016.03.002 -
Advances in Experimental Medicine and... 2012Hutchinson-Gilford progeria syndrome and Werner syndrome are two of the best characterized human progeroid diseases with clinical features mimicking physiological aging... (Review)
Review
Hutchinson-Gilford progeria syndrome and Werner syndrome are two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. Both disorders have been the focus of intense research in recent years since they might provide insights into the pathology of normal human aging. The chapter contains a detailed description of the clinical features of both disorders and then it focuses on the genetics, the resulting biochemical alterations at the protein level and the most recent findings and hypotheses concerning the molecular basis of the premature aging phenotypes. A description of available diagnostic and therapeutic approaches is included.
Topics: Aging, Premature; Humans; Progeria; Werner Syndrome
PubMed: 22411253
DOI: 10.1007/978-1-4614-0653-2_24 -
Aging Feb 2020
Topics: Aging; Epigenesis, Genetic; Humans; Werner Syndrome
PubMed: 32023552
DOI: 10.18632/aging.102829 -
Indian Journal of Dermatology,... 2012
Topics: Adult; Alopecia; Facies; Female; Hair Color; Humans; Werner Syndrome
PubMed: 22565447
DOI: 10.4103/0378-6323.95469 -
Dermatologic Clinics Jan 1995Werner's syndrome is a rare autosomal recessive disorder that affects connective tissue throughout the body. The genetic basis is not yet known, although many laboratory... (Review)
Review
Werner's syndrome is a rare autosomal recessive disorder that affects connective tissue throughout the body. The genetic basis is not yet known, although many laboratory abnormalities have been reported. The manifestations are widespread, and many organs may prematurely undergo changes usually associated with aging. The disease generally becomes apparent around puberty, with growth arrest and thinning and graying of hair. Rapidly progressing bilateral cataracts typically occur when patients are in their 20s and 30s. A dermatologist may be consulted because of the scleroderma-like appearance of the skin, lower-extremity ulcers or calluses, thinning and graying of hair or baldness, nail dystrophy or loss, wrinkling and aging of the face, or skin cancers. Patients should have a thorough clinical and laboratory work-up, keeping in mind their elevated risk for neoplasms.
Topics: Adult; Cataract; Connective Tissue Diseases; Hair Diseases; Humans; Nail Diseases; Precancerous Conditions; Skin Diseases; Skin Neoplasms; Werner Syndrome
PubMed: 7712642
DOI: No ID Found -
The American Journal of Medicine Jan 1973
Topics: Adult; Amputation, Surgical; Blood Glucose; Clinical Enzyme Tests; Gangrene; Glucose Tolerance Test; Glycosaminoglycans; Glycosuria; Hexosamines; Histocytochemistry; Humans; Hydroxyproline; Insulin; Isoenzymes; L-Lactate Dehydrogenase; Leg; Lipoproteins; Male; Skin; Werner Syndrome
PubMed: 4264672
DOI: 10.1016/0002-9343(73)90089-2 -
Dermatology Online Journal Aug 2022Werner syndrome (WS) is an autosomal recessive syndrome characterized by genomic instability that affects multiple body systems. The characteristic features of the...
Werner syndrome (WS) is an autosomal recessive syndrome characterized by genomic instability that affects multiple body systems. The characteristic features of the disease include growth retardation, short stature, alopecia, scleroderma, atrophic skin with ulcerations, infertility, cataracts, premature arteriolosclerosis, diabetes, osteoporosis, and increased risk of malignancies. Werner syndrome protein (WRN) protein deficiency in this disease causes changes in gene expression, similar to those observed in normal aging. As the median age of death in WS is the fourth or fifth decade of life, early diagnosis leads to a better screening opportunity for malignancies. Herein, we present a 28-year-old woman who presented with growth arrest, dyspigmentation, and acroosteolysis and was later diagnosed with Werner syndrome.
Topics: Female; Humans; Adult; Werner Syndrome; Acro-Osteolysis; Osteoporosis; Diabetes Mellitus; Aging
PubMed: 36259858
DOI: 10.5070/D328458520 -
Experimental Gerontology Apr 2002Werners syndrome is a disease of premature aging where the patients appear much older than their chronological age. The gene codes for a protein that is a helicase and... (Review)
Review
Werners syndrome is a disease of premature aging where the patients appear much older than their chronological age. The gene codes for a protein that is a helicase and an exonuclease, and recently we have learned about some of its protein interactions. These interactions are being discussed as they shed light on the molecular pathways in which Werner protein participates. Insight into these pathways brings insight into the aging process.
Topics: Catalysis; Chromosome Aberrations; DNA Helicases; DNA Replication; Exodeoxyribonucleases; Humans; Mutation; Phenotype; Polymorphism, Genetic; RecQ Helicases; Tumor Suppressor Protein p53; Werner Syndrome; Werner Syndrome Helicase
PubMed: 11830352
DOI: 10.1016/s0531-5565(01)00227-3 -
American Journal of Medical Genetics.... May 2022Werner syndrome (WS) is an extremely rare, autosomal recessive segmental progeroid disorder caused by biallelic pathogenic variants in the WRN, which encodes a...
Werner syndrome (WS) is an extremely rare, autosomal recessive segmental progeroid disorder caused by biallelic pathogenic variants in the WRN, which encodes a multifunctional nuclear protein that belongs to the RecQ family of DNA helicases. Despite extensive research on WS in the last years, the population-specific mutational spectrum still needs to be elucidated. Moreover, there is an evident lack of detailed clinical descriptions accompanied with photographs of affected individuals. Here, we report a consanguineous Lebanese family in whom we identified a pathogenic homozygous nonsense variant c.1111G>T, p.Glu371* in the WRN. The index individual, at the age of 54 years, was suspected to have WS due to a history of early-onset cataracts, premature hair loss and graying, chronic nonhealing leg ulcers, Achilles' tendon calcifications, type 2 diabetes mellitus, dyslipidemia, hypothyroidism, and premature coronary artery disease. His four sisters, three of which deceased in the fifth decade, had clinical signs suggestive of WS. Moreover, his daughter, aged 23 years, had short stature, hair loss and flat feet. Taken together, we report a detailed clinical course of disease in several affected members of a consanguineous family, which is additionally documented by photographs.
Topics: Alopecia; Diabetes Mellitus, Type 2; Female; Humans; Male; Middle Aged; RecQ Helicases; Werner Syndrome; Werner Syndrome Helicase; Young Adult
PubMed: 35037378
DOI: 10.1002/ajmg.a.62654 -
Diagnostic and Interventional Imaging May 2017Werner syndrome (i.e., adult progeria) is a rare autosomal recessive disorder caused by mutations of the WRN gene, which is characterized by the premature appearance of... (Review)
Review
Werner syndrome (i.e., adult progeria) is a rare autosomal recessive disorder caused by mutations of the WRN gene, which is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Patients with Werner syndrome can present with musculoskeletal complaints, associated with suggestive radiographic features with a potential prognostic or therapeutic impact. This review illustrates the main radiographic features of Werner syndrome, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, foot deformities, osteitis and osteomyelitis, and bone or soft-tissues malignancies. The identification of these features by radiologists can therefore be useful in the clinical screening of Werner syndrome.
Topics: Humans; Musculoskeletal Diseases; Radiography; Werner Syndrome
PubMed: 27931782
DOI: 10.1016/j.diii.2016.10.007