Výsledky vyhledávání - "Atypical Werner syndrome"

Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations

Autor: Renuka Kandhaya-Pillai, Haroula Korovou, George M. Martin, Junko Oshima, Stephanie A. Bucks, Fuki M. Hisama, Soe Yarzar

Publikováno v: Aging pathobiology and therapeutics

Segmental progeroid syndromes are groups of genetic disorders with multiple features resembling accelerated aging. The International Registry of Werner Syndrome (Seattle, WA) recruits pedigrees of progeroid syndromes from all over the world. We ident

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::801c9f9fbc1338b95d8e9b42a49de6e3
http://europepmc.org/articles/PMC7500617

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Lessons for aging from Werner syndrome epigenetics

Autor: George M. Martin, Martin Poot, Thomas Haaf

Publikováno v: Aging Cell

Werner Syndrome (WS) is an adult‐onset segmental progeroid syndrome. Bisulfite pyrosequencing of repetitive DNA families revealed comparable blood DNA methylation levels between classical (18 WRN‐mutant) or atypical WS (3 LMNA‐mutant and 3 POLD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb3765bc1d357764fdccf42787a6eb2f
https://pubmed.ncbi.nlm.nih.gov/31259468

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Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene

Autor: Kunihisa Kobayashi, Kumiko Yanagi, Satoshi Ugi, Tadashi Kaname, Yuji Tajiri, Atsunori Kashiwagi, Kumiko Ohkubo, Hiroshi Maegawa, Haruka Sasaki

Publikováno v: Endocrine Journal. 65:227-238

Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are characterized by phenotypic features of premature aging affecting various tissues and organs. In this study, we present a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::55e98d4fa85a96d0edf02b219b378a4a
https://doi.org/10.1507/endocrj.ej17-0287

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Progerin impairs vascular smooth muscle cell growth via the DNA damage response pathway

Autor: Ippei Shimizu, Ayako Nagasawa, Takashi K. Ito, Yohko Yoshida, Masanori Tsuchida, Toshiya Hayano, Atsushi Iwama, Daisuke Kinoshita, Tohru Minamino

Publikováno v: Oncotarget

Mutations of the lamin A gene cause various premature aging syndromes, including Hutchinson-Gilford progeria syndrome (HGPS) and atypical Werner syndrome. In HGPS (but not atypical Werner syndrome), extensive loss of vascular smooth muscle cells lead

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::321b0651d83536b1d1d9760223a7e822
http://europepmc.org/articles/PMC5470950

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Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review

Autor: Lin Sun, Weiying Guo, You Lv, Zi Yan, Guangyu He, Xiaokun Gang, Guixia Wang

Publikováno v: Endocrine journal. 66(11)

Werner syndrome (WS) is a rare, adult-onset progeroid syndrome. Classic WS is caused by WRN mutation and partial atypical WS (AWS) is caused by LMNA mutation. A 19-year-old female patient with irregular menstruation and hyperglycemia was admitted. Ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09e91e422f57adfeba5ac15d07f546f
https://pubmed.ncbi.nlm.nih.gov/31270292

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Oxidative stress and antioxidant response in fibroblasts from Werner and Atypical Werner Syndromes

Autor: José Santiago Ibáñez-Cabellos, Giselle Perez-Machado, Ana Velázquez-Ledesma, Marta Seco-Cervera, Sergio Bañuls, José Luis García-Giménez, Marta Spis, Isabel Esmoris, Federico V. Pallardó

Publikováno v: Aging (Albany NY)
Scopus-Elsevier
Aging-US
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname

Werner Syndrome (WS, ICD-10 E34.8, ORPHA902) and Atypical Werner Syndrome (AWS, ICD-10 E34.8, ORPHA79474) are very rare inherited syndromes characterized by premature aging. While approximately 90% of WS individuals have any of a range of mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8bd6e8561441fac23f91381ff761b89
https://doi.org/10.18632/aging.100649

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Skin Disease in Laminopathy-Associated Premature Aging

Autor: Maria Eriksson, Tomás McKenna, Agustín Sola Carvajal

Publikováno v: Journal of Investigative Dermatology. 135(11):2577-2583

The nuclear lamina, a protein network located under the nuclear membrane, has during the past decade found increasing interest due to its significant involvement in a range of genetic diseases, including the segmental premature aging syndromes Hutchi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35da20458d02796ce66179b7203bac98

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First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygousLMNAmutation

Autor: Yuko Takeuchi, Tomoyasu Hattori, Sachiko Ogino, Akihiko Uchiyama, Sei-ichiro Motegi, Osamu Ishikawa, Yuichi Ishikawa, Makoto Goto, Kazuya Yamada, Hiroaki Hashizume, Yoko Yokoyama

Publikováno v: The Journal of Dermatology. 41:1047-1052

Atypical progeroid syndrome (APS), including atypical Werner syndrome (AWS), is a progeroid syndrome involving heterozygous mutations in the LMNA gene encoding the nuclear protein lamin A/C. We report the first Japanese case of APS/AWS with a LMNA mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9a63c89d880675af4f0cd50000be54
https://doi.org/10.1111/1346-8138.12657

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