... (WS) or Werner's syndrome, also known as "adult progeria", is a rare, autosomal recessive disorder which is ... Werner syndrome is named after the German scientist Otto Werner. He identified the syndrome in four siblings observed with ... Otto Werner was the first to observe Werner syndrome in 1904 as a part of his dissertation research. As a German ... Progeroid syndromes, Syndromes affecting stature, Syndromes affecting bones, Syndromes affecting the nervous system, Diseases ...

Werner syndrome is caused by mutations in the WRN gene. More than 20 mutations in the WRN gene are known to cause Werner ... Werner syndrome ATP-dependent helicase, also known as DNA helicase, RecQ-like type 3, is an enzyme that in humans is encoded by ... Werner syndrome ATP-dependent helicase has been shown to interact with: BLM DNA-PKcs, FEN1, Ku70, Ku80, P53, PCNA, TERF2, and ... Lebel M (2001). "Werner syndrome: genetic and molecular basis of a premature aging disorder". Cell. Mol. Life Sci. 58 (7): 857- ...

Werner syndrome, a condition associated with premature aging, causes a "bird-like" appearance due to pinching of the nose. Down ... eds.). Werner Syndrome. PMID 20301687. Archived from the original on 2017-01-18. Retrieved 2017-08-31 - via NCBI. {{cite book ... Empty nose syndrome, a nose crippled by excessive resection of the inferior and/or middle turbinates of the nose Dried nasal ... in Kallmann syndrome or Parkinson's disease. A blocked sinus ostium, an opening from a paranasal sinus, will cause fluid to ...

Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ... Werner syndrome (WS) Bloom syndrome (BS) Rothmund-Thomson syndrome (RTS) Cockayne syndrome (CS) Xeroderma pigmentosum (XP) ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ... Hutchinson-Gilford progeria syndrome, Werner syndrome, and Cockayne syndrome are the three genetic disorders in which patients ...

Rothmund-Thomson syndrome, Werner syndrome and Xeroderma pigmentosum. Although cancer syndromes exhibit an increased risk of ... A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, ... Lynch syndrome), Howel-Evans syndrome of esophageal cancer with tylosis, juvenile polyposis syndrome, Li-Fraumeni syndrome, ... Birt-Hogg-Dubé syndrome, Carney syndrome, familial chordoma, Cowden syndrome, dysplastic nevus syndrome with familial melanoma ...

... and Werner syndrome. Horvath published the first article demonstrating that trisomy 21 (Down syndrome) is associated with ... Maierhofer, A (2017). "Accelerated epigenetic aging in Werner syndrome". Aging. 9 (4): 1143-1152. doi:10.18632/aging.101217. ... physical activity and the risks associated with metabolic syndrome. Horvath and Raj proposed an epigenetic clock theory of ... "Accelerated epigenetic aging in Down syndrome". Aging Cell. 14 (3): 491-5. doi:10.1111/acel.12325. PMC 4406678. PMID 25678027. ...

Maierhofer A, Flunkert J, Oshima J, Martin GM, Haaf T, Horvath S (April 2017). "Accelerated epigenetic aging in Werner syndrome ... Adult progeria also known as Werner syndrome is associated with epigenetic age acceleration in blood. Fibroblast samples from ... Down syndrome entails an increased risk of many chronic diseases that are typically associated with older age. The clinical ... Children with a very rare disorder known as syndrome X maintain the façade of persistent toddler-like features while aging from ...

"LMNA mutations in atypical Werner's syndrome". Lancet. 362 (9382): 440-5. doi:10.1016/S0140-6736(03)14069-X. PMID 12927431. ... Mutations in lamin A (LMNA) cause Hutchinson-Gilford progeria syndrome, a dramatic form of premature aging. Mouse cells ... 2004). "Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis". Nature ... Rusinal AE, Sinensky MS (2006). "Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors". J. Cell Sci. ...

... and Cockayne syndrome (mean lifespan 13 years). Werner syndrome is due to an inherited defect in an enzyme (a helicase and ... Werner syndrome (WS), a premature aging condition in humans, is caused by a genetic defect in a RecQ helicase that is employed ... Bloom syndrome and Rothmund-Thomson syndrome. In addition to human inherited syndromes, experimental mouse models with genetic ... Harrigan, JA; Wilson, DM; Prasad, R; Opresko, PL; Beck, G; May, A; Wilson, SH; Bohr, VA (Jan 2006). "The Werner syndrome ...

Martin's group separately identified the genetic defect causing the aging disease Werner syndrome, and its underlying ... September 1994). "Integrated mapping analysis of the Werner syndrome region of chromosome 8" (PDF). Genomics. 23 (1): 100-13. ... "The Werner syndrome protein is a DNA helicase". Nature Genetics. 17 (1): 100-103. doi:10.1038/ng0997-100. ISSN 1061-4036. PMID ... "The Werner syndrome protein is involved in RNA polymerase II transcription". Molecular Biology of the Cell. 10 (8): 2655-2668. ...

Hutchinson-Gilford progeria syndrome) Rothmund-Thomson syndrome Trichothiodystrophy Werner syndrome Xeroderma pigmentosum Some ... Rossi ML, Ghosh AK, Bohr VA (2010). "Roles of Werner syndrome protein in protection of genome integrity". DNA Repair (Amst.). 9 ... Bohr VA (2005). "Deficient DNA repair in the human progeroid disorder, Werner syndrome". Mutat. Res. 577 (1-2): 252-9. doi: ... Saintigny Y, Makienko K, Swanson C, Emond MJ, Monnat RJ (2002). "Homologous recombination resolution defect in werner syndrome ...

1996). "Positional cloning of the Werner's syndrome gene". Science. 272 (5259): 258-262. Bibcode:1996Sci...272..258Y. doi: ... Werner syndrome) and early onset Alzheimer's disease (presenilin 2). In 1997, Fu returned to academia, taking the position of ... While there, she was part of the team that identified the fragile-X syndrome gene. The gene contains a polymorphic CGG ... This mutational mechanism is now known to cause not only Fragile X syndrome and Myotonic dystrophy, but also Huntington's ...

NCBI: Human Gene Map eMedicine: Progeria (Werner Syndrome) Who Named It? C. W. Otto Werner Genetic Disorders: Werner Syndrome v ... after whom Werner syndrome, a form of progeria, was named. As a medical student in 1903, Werner observed the syndrome in four ... Werner was born in Flensburg, the son of a provincial councillor. He attended school in Kiel and qualified to practice medicine ... Carl Wilhelm Otto Werner (1 February 1879 - 5 June 1936) was a German physician, ...

... "p53 Modulates the exonuclease activity of Werner syndrome protein". The Journal of Biological Chemistry. 276 (37): 35093-102. ... Yu A, Fan HY, Liao D, Bailey AD, Weiner AM (May 2000). "Activation of p53 or loss of the Cockayne syndrome group B repair ... Abramovitch S, Werner H (2003). "Functional and physical interactions between BRCA1 and p53 in transcriptional regulation of ... GeneReviews/NCBI/NIH/UW entry on Li-Fraumeni Syndrome TUMOR PROTEIN p53 @ OMIM p53 restoration of function p53 @ The Atlas of ...

MDPL/MDP, AWS and Werner's syndrome all present with progeria. A first example of germline transmission was observed in a ... POLD1 Ser605del and R507C variants have also been identified in a subset of patients with atypical Werner's syndrome (AWS). ... The WRN gene is mutated in Werner syndrome (an autosomal recessive disorder) leading to accelerated aging and increased genetic ... Kamath-Loeb AS, Shen JC, Schmitt MW, Loeb LA (April 2012). "The Werner syndrome exonuclease facilitates DNA degradation and ...

Werner syndrome, also known as "adult progeria", is another single-gene genetic disease. it is caused by a mutation in the wrn ... Those who have Werner syndrome are at an increased risk for cataracts, type 2 diabetes, different types of cancers, and ... S2CID 11798376 "Werner syndrome". Genetics Home Reference. Retrieved 2020-04-11. Yamamoto K, Imakiire A, Miyagawa N, Kasahara T ... There are four common traits of Werner's syndrome: cataracts in both eyes, changes in skin similar to scleroderma, short ...

Werner's syndrome is a genetic disorder that causes premature aging. Patients with Werner's syndrome lack a functional WRN ... Compton SA, Tolun G, Kamath-Loeb AS, Loeb LA, Griffith JD (September 2008). "The Werner syndrome protein binds replication fork ... such as cancer and Werner's Disease. The first theoretical description of cruciform-forming DNA structures was hypothesized in ...

Werner syndrome and pernicious anemia can also cause premature graying. A 2005 uncontrolled study demonstrated that people 50- ... Marie Antoinette syndrome is a proposed phenomenon in which sudden whitening is caused by stress. It has been found that some ... Waardenburg syndrome or a vitamin B12 deficiency. At some point in the human life cycle, cells that are located in the base of ...

Werner syndrome (WS) is a premature aging condition in humans. WS is caused by a genetic defect in a RecQ helicase that is ... Didangelos A, Simper D, Monaco C, Mayr M (May 2009). "Proteomics of acute coronary syndromes". Current Atherosclerosis Reports ...

WRN helicase, which is mutated in Werner Syndrome patients, is required for efficient replication of the telomeric G-strand. ... which is responsible for the heightened cancer incidence in individuals with Werner Syndrome. He went on to show that following ... Karlseder discovered that telomere dysfunction plays a role in Werner Syndrome, a premature aging disease that is associated ... "Telomere dysfunction as a cause of genomic instability in Werner syndrome". Proceedings of the National Academy of Sciences. ...

Werner syndrome is a condition in humans characterized by accelerated aging. It is caused by mutations in the gene WRN that ... November 2019). "Evidence for premature aging in a Drosophila model of Werner syndrome". Experimental Gerontology. 127: 110733 ...

... which causes Werner's Syndrome, the MAPT mutations which cause FTLD-tau type, and subsequently the MAPT association with Guam ... he was the senior author of a Science article locating the gene and mutations responsible for Werner syndrome, a form of ... "Integrated Mapping Analysis of the Werner Syndrome Region of Chromosome 8". Genomics. 23 (1): 100-113. doi:10.1006/geno. ... "Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from ...

"Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". J. Biol. Chem. 277 (43): 41110- ... Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. The Bloom ... and functional interaction between Werner and Bloom syndrome proteins". J. Biol. Chem. 277 (24): 22035-44. doi:10.1074/jbc. ... "Bloom syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013. De Muyt A, Jessop L, Kolar E, Sourirajan A, Chen J, ...

Researchers at INMEGEN also study Werner syndrome and the pulmonary adenocarcinoma. INMEGEN has many investigations related to ... Another study is on the effect of Omega 3 on metabolic syndrome in the Mexican population, specifically on early biomarkers ...

Werner's syndrome is a rare autosomal recessive disorder characterized by premature aging. The protein encoded by this gene ... WRNIP1 has been shown to interact with Werner syndrome ATP-dependent helicase. GRCh38: Ensembl release 89: ENSG00000124535 - ... "A novel protein interacts with the Werner's syndrome gene product physically and functionally". J Biol Chem. 276 (23): 20364-9 ... "Entrez Gene: WRNIP1 Werner helicase interacting protein 1". Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to ...

Herlyn-Werner-Wunderlich syndrome is one such syndrome in which unilateral renal agenesis is combined with a blind hemivagina ... Ahmad, Zohra; Goyal, Ankur; Das, Chandan J; Deka, Dipika; Sharma, Raju (2013-01-01). "Herlyn-Werner-Wunderlich syndrome ... Kallmann syndrome, branchio-oto-renal syndrome and others.[citation needed] The prevalence of unilateral renal agenesis in the ... causes of oligohydramnios sequence have been linked to a number of other conditions and syndromes to include Down syndrome, ...

May 1994). "Evidence against DNA polymerase beta as a candidate gene for Werner syndrome". Human Genetics. 93 (5): 507-12. doi: ...

"Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer". Proceedings of the National Academy of ... lessons from pediatric cancer susceptibility syndromes". Journal of Clinical Oncology. 24 (23): 3799-808. doi:10.1200/JCO. ...

"Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer". Proc. Natl. Acad. Sci. U.S.A. 103 (23): ...

Futami K, Ishikawa Y, Goto M, Furuichi Y, Sugimoto M (2008). "Role of Werner syndrome gene product helicase in carcinogenesis ... "Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer". Proc. Natl. Acad. Sci. U.S.A. 103 (23): ... "Recapitulation of Werner syndrome sensitivity to camptothecin by limited knockdown of the WRN helicase/exonuclease". ...