Werner's syndrome with associated malignant neoplasms

Hrabko, R. P.

doi:10.1001/archderm.118.2.106

Cited by 7 publications

(3 citation statements)

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“…Werner's syndrome is a rare, autosomal recessive disease resulting in premature aging (75)(76)(77)(78)(79). It is characterized by cataracts, short stature, premature graying of the hair and baldness, laryngeal atrophy, high-pitched voice, distal muscle atrophy, endocrine disorders such as diabetes mellitus, osteoporosis, and hypogonadism.…”

Section: Werner's Syndrome Associated With Malignant Neoplasmsmentioning

confidence: 99%

“…Some authors have described Werner's syndrome associated with fibrosarcoma of the mediastinum and multiple basal cell carcinomas. In two of these basal cell carcinomas, since the sclerotic skin made it difficult to assess the extent of the tumor, a microscopically controlled excision (Mohs' chemosurgery) was utilized (75)(76)(77)(78)(79).…”

Section: Werner's Syndrome Associated With Malignant Neoplasmsmentioning

confidence: 99%

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Diagnosis and treatment of cutaneous paraneoplastic disorders

Velez

Howard

2010

Dermatologic Therapy

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The skin plays a critical role in the detection of internal malignances. Cutaneous signs of these disorders afford clinicians opportunities for early diagnosis and treatment. We aim to succinctly review the recognition, diagnosis, and treatment of selected cutaneous paraneoplastic diseases. Skin disorders that may be associated with paraneoplastic syndromes include: cutaneous metastases, tripe palms, Sweet's syndrome, glucagonoma, Paget's disease and extramammary Paget's disease, acanthosis nigricans, Birt-Hogg-Dube syndrome, basal cell nevus syndrome, Bazex syndrome (acrokeratosis paraneoplastica), carcinoid syndrome, Cowden's disease(multiple hamartoma syndrome), dermatomyositis, erythema gyratum repens, ichthyosis aquisita, von Recklinghausen's disease, pityriasis rotunda, pyoderma gangrenosum, Quincke's edema (angioedema and paraneoplastic uricaria), paraneoplastic pemphigus, Degos' disease, superior vena cava syndrome, Werner's syndrome, diffuse normolipemic plane xanthomas, and yellow nail syndrome. Treatment for these disorders depends on the nature and anatomic distribution of the primary neoplastic process.

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Section: Werner's Syndrome Associated With Malignant Neoplasmsmentioning

confidence: 99%

Section: Werner's Syndrome Associated With Malignant Neoplasmsmentioning

confidence: 99%

Diagnosis and treatment of cutaneous paraneoplastic disorders

Velez

Howard

2010

Dermatologic Therapy

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“…Werner's syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging (Salk et al, 1985) and early onset of various neoplasms, including different types of carcinomas and sarcomas (Goto et al, 1981;Hrabko et al, 1982;Sato et al, 1988). This disorder arises as a consequence of mutations in a gene coding for a protein that is a member of RecQ family of DNA helicases, WRN.…”

Section: Introductionmentioning

confidence: 99%

Werner's Syndrome Protein Is Required for Correct Recovery after Replication Arrest and DNA Damage Induced in S-Phase of Cell Cycle

Pichierri

Franchitto

Mosesso

et al. 2001

MBoC

134

140

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Werner's syndrome (WS) is a rare autosomal recessive disorder that arises as a consequence of mutations in a gene coding for a protein that is a member of RecQ family of DNA helicases, WRN. The cellular function of WRN is still unclear, but on the basis of the cellular phenotypes of WS and of RecQ yeast mutants, its possible role in controlling recombination and/or in maintenance of genomic integrity during S-phase has been envisaged. With the use of two drugs, camptothecin and hydroxyurea, which produce replication-associated DNA damage and/or inhibit replication fork progression, we find that WS cells have a slower rate of repair associated with DNA damage induced in the S-phase and a reduced induction of RAD51 foci. As a consequence, WS cells undergo apoptotic cell death more than normal cells, even if they arrest and resume DNA synthesis at an apparently normal rate. Furthermore, we report that WS cells show a higher background level of DNA strand breaks and an elevated spontaneous induction of RAD51 foci. Our findings support the hypothesis that WRN could be involved in the correct resolution of recombinational intermediates that arise from replication arrest due to either DNA damage or replication fork collapse. INTRODUCTIONWerner's syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging (Salk et al., 1985) and early onset of various neoplasms, including different types of carcinomas and sarcomas (Goto et al., 1981;Hrabko et al., 1982;Sato et al., 1988). This disorder arises as a consequence of mutations in a gene coding for a protein that is a member of RecQ family of DNA helicases, WRN. One of the hallmarks of WS patients is the genomic instability as evidenced by the spontaneous chromosome anomalies and large deletions in many genes (Salk et al., 1985;Fukuchi et al., 1989). It has been demonstrated that WRN exhibits DNA unwinding activity (Gray et al., 1997;Suzuki et al., 1997) and exonuclease activity residing in the N-terminal region (Huang et al., 1998). The cellular function of WRN is still unclear. It has been proposed that helicases are required for various DNA metabolic activities, including progression of replication fork, segregation of newly replicated chromosomes, disruption of the nucleosome structure, DNA supercoiling, transcription, recombination, and repair (Duguet, 1997). In addition, it has been suggested that RecQ family of DNA helicases has an important role in the maintenance of genomic integrity during DNA replication . Studies from yeast show that DNA replication does not proceed normally in absence of RecQ helicase function (Stewart et al., 1997) and in Xenopus laevis the ortholog of WRN is absolutely required for proper formation of replication foci (Yan et al., 1998). Functional interaction between proteins involved in DNA replication, such as replication protein A (RPA) and DNA polymerase ␦, and WRN also have been reported (Shen et al., 1998;Brosh et al., 1999;Kamath-Loeb et al., 2000). Furthermore, in yeast, the RecQlike proteins seem involved in ...

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Systemic Disease and the Skin

BSc

2010

Rook's Textbook of Dermatology

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Werner's syndrome with associated malignant neoplasms

Cited by 7 publications

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Diagnosis and treatment of cutaneous paraneoplastic disorders

Diagnosis and treatment of cutaneous paraneoplastic disorders

Werner's Syndrome Protein Is Required for Correct Recovery after Replication Arrest and DNA Damage Induced in S-Phase of Cell Cycle

Systemic Disease and the Skin

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