Database : MEDLINE
Search on : Werner and Syndrome [Words]
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  1 / 2035 MEDLINE  
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[PMID]: 29494634
[Au] Autor:Aumailley L; Roux-Dalvai F; Kelly I; Droit A; Lebel M
[Ad] Address:Centre de recherche du CHU de Québec, Faculty of Medicine, Université Laval, Quebec City Québec, Canada.
[Ti] Title:Vitamin C alters the amount of specific endoplasmic reticulum associated proteins involved in lipid metabolism in the liver of mice synthesizing a nonfunctional Werner syndrome (Wrn) mutant protein.
[So] Source:PLoS One;13(3):e0193170, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Werner syndrome (WS) is a premature aging disorder caused by mutations in a protein containing both a DNA exonuclease and DNA helicase domain. Mice lacking the helicase domain of the Wrn protein orthologue exhibit transcriptomic and metabolic alterations, some of which are reversed by vitamin C. Recent studies on these animals indicated that the mutant protein is associated with enriched endoplasmic reticulum (ER) fractions of tissues resulting in an ER stress response. In this study, we identified proteins that exhibit actual level differences in the ER enriched fraction between the liver of wild type and Wrn mutant mice using quantitative proteomic profiling with label-free Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS). Multiple Reaction Monitoring (MRM) and immunoblotting were performed to validate findings in a secondary independent cohort of wild type and Wrn mutant mice. DAVID 6.7 (NIH) was used for functional annotation analysis and indicated that the identified proteins exhibiting level changes between untreated wild type, Wrn mutant, and vitamin C treated Wrn mutant mice (ANOVA P-value < 0.05) were involved in fatty acid and steroid metabolism pathways (Bonferroni P-value = 0.0137). Finally, when we compared the transcriptomic and the proteomic data of our mouse cohorts only ~7% of the altered mRNA profiles encoding for ER gene products were consistent with their corresponding protein profiles measured by the label-free quantification methods. These results suggest that a great number of ER gene products are regulated at the post-transcriptional level in the liver of Wrn mutant mice exhibiting an ER stress response.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0193170

  2 / 2035 MEDLINE  
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[PMID]: 29483835
[Au] Autor:Si X; Shao C; Li J; Jia S; Tang W; Zhang J; Yang J; Wu X; Luo Y
[Ad] Address:Lab of Molecular Genetics of Aging & Tumor, Faculty of Medicine, Kunming University of Science & Technology, 727 South Jing Ming Road, Chenggong County, Kunming, Yunnan Province, China, 650500.
[Ti] Title:Loss of p21 promoted tumorigenesis in the background of telomere dysfunctions induced by TRF2 and Wrn deficiency.
[So] Source:Int J Biol Sci;14(2):165-177, 2018.
[Is] ISSN:1449-2288
[Cp] Country of publication:Australia
[La] Language:eng
[Ab] Abstract:Werner syndrome (WS) is a rare autosomal recessive progeria disease with genetic instability/cancer predisposition, thus a good model in understanding aging related carcinogenesis. Telomere dysfunction induced cellular senescence is essential in the manifestation of the WS phenotype. Our previous data has shown that p21 (encoded by gene) could induce cellular senescence and suppress cellular growth of ALT (alternative lengthening of telomere) tumors derived from WS, suggested that p21 might play a key role in maintaining senescence of WS cells. To confirm the role of p21 in suppressing telomere dysfunction induced tumorigenesis, we overexpressed dominant negative protein TRF2 in mouse embryonic fibroblasts (MEFs). To further stress the cell, we crossed mice with mice to obtained MEFs, and overexpressed TRF2 in these MEFs to induce telomere dysfunction similar to that in WS cells. Our data showed that, in the context of TRF2 , loss of p21 function rescued cellular senescence, and induced p53 mutation, but did not induce tumorigenesis. However, in the set of TRF2 , loss of p21 function induced p53 mutation and tumorigenesis. To further verify the role of p21 in suppressing telomere dysfunction related tumorigenesis, we knocked down p21 in non-tumorigenic immortalized cells derived from WS MEFs (mTerc ), and found that loss of p21 could induce ALT tumorigenesis, which displayed typical smear pattern of telomere length and arc-shaped telomeric DNA. In another hand, recovering telomerase activity in these MEFs could also induce tumorigenesis without affecting p21 expression level. Together our data suggested that p21 controlled cell cycle regulation played an essential role in suppressing telomere dysfunction-related tumorigenesis. These data also suggested that the genetic context is essential in determining the role of p21 in cancer prevention. Therefore, targeting p21 in the treatment of human degenerative diseases would require a personalized genetic background screen.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review
[do] DOI:10.7150/ijbs.23477

  3 / 2035 MEDLINE  
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[PMID]: 29478043
[Au] Autor:Mallmann MR; Reutter H; Mack-Detlefsen B; Gottschalk I; Geipel A; Berg C; Boemers TM; Gembruch U
[Ad] Address:Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
[Ti] Title:Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
[So] Source:Fetal Diagn Ther;, 2018 Feb 23.
[Is] ISSN:1421-9964
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:BACKGROUND: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. SUBJECTS AND METHODS: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017). RESULTS: The median diagnosis was made at 30+4 weeks of gestation, the earliest at 20+6 weeks, the latest at 37+2 weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Küster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro)colpos. CONCLUSION: Hydro(me tro)colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro)colpos in the prenatal setting.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180225
[Lr] Last revision date:180225
[St] Status:Publisher
[do] DOI:10.1159/000486781

  4 / 2035 MEDLINE  
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[PMID]: 29199204
[Au] Autor:Sasaki H; Yanagi K; Ugi S; Kobayashi K; Ohkubo K; Tajiri Y; Maegawa H; Kashiwagi A; Kaname T
[Ad] Address:Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, Chikushino, Fukuoka 818-8502, Japan.
[Ti] Title:Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
[So] Source:Endocr J;65(2):227-238, 2018 Feb 26.
[Is] ISSN:1348-4540
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract: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 "sporadic/isolated" Japanese woman who was ultimately diagnosed with mandibular hypoplasia, deafness, progeroid features, and progressive lipodystrophy (MDPL) syndrome (MIM #615381) using whole exome sequencing analysis. She had been suspected as having atypical Werner syndrome and/or progeroid syndrome based on observations spanning a 30-year period; however, repeated genetic testing by Sanger sequencing did not identify any causative mutation related to various subtypes of congenital partial lipodystrophy (CPLD) and/or mandibular dysplasia with lipodystrophy (MAD). Recently, MDPL syndrome has been described as a new entity showing progressive lipodystrophy. Furthermore, polymerase delta 1 (POLD1) gene mutations on chromosome 19 have been identified in patients with MDPL syndrome. To date, 21 cases with POLD1-related MDPL syndrome have been reported worldwide, albeit almost entirely of European origin. Here, we identified a de novo mutation in exon 15 (p.Ser605del) of the POLD1 gene in a Japanese case by whole exome sequencing. To the best of our knowledge, this is the first identified case of MDPL syndrome in Japan. Our results provide further evidence that mutations in POLD1 are responsible for MDPL syndrome and serve as a common genetic determinant across different ethnicities.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Process
[do] DOI:10.1507/endocrj.EJ17-0287

  5 / 2035 MEDLINE  
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[PMID]: 29476423
[Au] Autor:Wu Z; Zhang W; Song M; Wang W; Wei G; Li W; Lei J; Huang Y; Sang Y; Chan P; Chen C; Qu J; Suzuki K; Belmonte JCI; Liu GH
[Ad] Address:State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China.
[Ti] Title:Differential stem cell aging kinetics in Hutchinson-Gilford progeria syndrome and Werner syndrome.
[So] Source:Protein Cell;, 2018 Feb 23.
[Is] ISSN:1674-8018
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best characterized human progeroid syndromes. HGPS is caused by a point mutation in lamin A (LMNA) gene, resulting in the production of a truncated protein product-progerin. WS is caused by mutations in WRN gene, encoding a loss-of-function RecQ DNA helicase. Here, by gene editing we created isogenic human embryonic stem cells (ESCs) with heterozygous (G608G/+) or homozygous (G608G/G608G) LMNA mutation and biallelic WRN knockout, for modeling HGPS and WS pathogenesis, respectively. While ESCs and endothelial cells (ECs) did not present any features of premature senescence, HGPS- and WS-mesenchymal stem cells (MSCs) showed aging-associated phenotypes with different kinetics. WS-MSCs had early-onset mild premature aging phenotypes while HGPS-MSCs exhibited late-onset acute premature aging characterisitcs. Taken together, our study compares and contrasts the distinct pathologies underpinning the two premature aging disorders, and provides reliable stem-cell based models to identify new therapeutic strategies for pathological and physiological aging.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180224
[Lr] Last revision date:180224
[St] Status:Publisher
[do] DOI:10.1007/s13238-018-0517-8

  6 / 2035 MEDLINE  
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[PMID]: 29452565
[Au] Autor:Aumailley L; Dubois MJ; Brennan TA; Garand C; Paquet ER; Pignolo RJ; Marette A; Lebel M
[Ad] Address:Centre de Recherche du Centre Hospitalier de l'Université (CHU) de Québec, Faculté de Médecine, Université Laval, Quebec City, Quebec, Canada.
[Ti] Title:Serum vitamin C levels modulate the lifespan and endoplasmic reticulum stress response pathways in mice synthesizing a nonfunctional mutant WRN protein.
[So] Source:FASEB J;:fj201701176R, 2018 Feb 08.
[Is] ISSN:1530-6860
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Werner syndrome (WS) is a premature aging disorder caused by mutations in a RecQ-family DNA helicase (WRN). Mice lacking part of the helicase domain of the WRN ortholog exhibit several phenotypic features of WS. In this study, we generated a Wrn mutant line that, like humans, relies entirely on dietary sources of vitamin C (ascorbate) to survive, by crossing them to mice that lack the gulonolactone oxidase enzyme required for ascorbate synthesis. In the presence of 0.01% ascorbate (w/v) in drinking water, double-mutant mice exhibited a severe reduction in lifespan, small size, sterility, osteopenia, and metabolic profiles different from wild-type (WT) mice. Although increasing the dose of ascorbate to 0.4% improved dramatically the phenotypes of double-mutant mice, the metabolic and cytokine profiles were different from age-matched WT mice. Finally, double-mutant mice treated with 0.01% ascorbate revealed a permanent activation of all the 3 branches of the ER stress response pathways due to a severe chronic oxidative stress in the ER compartment. In addition, markers associated with the ubiquitin-proteasome-dependent ER-associated degradation pathway were increased. Augmenting the dose of ascorbate reversed the activation of this pathway to WT levels rendering this pathway a potential therapeutic target in WS.-Aumailley, L., Dubois, M. J., Brennan, T. A., Garand, C., Paquet, E. R., Pignolo, R. J., Marette, A., Lebel, M. Serum vitamin C levels modulate the lifespan and endoplasmic reticulum stress response pathways in mice synthesizing a nonfunctional mutant WRN protein.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180217
[Lr] Last revision date:180217
[St] Status:Publisher
[do] DOI:10.1096/fj.201701176R

  7 / 2035 MEDLINE  
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[PMID]: 29412869
[Au] Autor:Tavakoli Shirazi P; Leifert WR; Fenech MF; François M
[Ad] Address:CSIRO Health and Biosecurity, Personalised Nutrition & Healthy Ageing, Gate 13, Kintore Ave, Adelaide, South Australia, 5000, Australia; University of Adelaide, Department of Molecular and Cellular Biology, School of Biological Sciences, Adelaide, South Australia, 5005, Australia; South Australi
[Ti] Title:Folate modulates guanine-quadruplex frequency and DNA damage in Werner syndrome.
[So] Source:Mutat Res;826:47-52, 2018 Feb.
[Is] ISSN:1873-135X
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Guanine-quadruplexes (G4) are stable tetra-stranded DNA structures that may cause DNA replication stress and inhibit gene expression. Defects in unwinding these structures by DNA helicases may result in telomere shortening and DNA damage. Furthermore, due to mutations in WRN helicase genes in Werner syndrome, G4 motifs are likely to be key elements in the expression of premature aging phenotypes. The methylation of DNA plays a significant role in the stability and occurrence of G4. Thus, G4 frequency and DNA methylation mechanisms may be affected by excesses or deficiencies in methyl donors such as folate. B-Lymphocytes from Werner patients (n = 5) and healthy individuals (n = 5) were cultured in RPMI medium under condition of folate deficiency (20 nM) or sufficiency (200 nM) for 14 days. Cells were fixed on microscope slides for immunofluorescent staining to measure G4 frequency and γH2AX (a marker of DNA strand breaks) intensity, using automated quantitative imaging fluorescent microscopy. There was a significant increase (p < 0.05) in G4 levels in Werner syndrome patients compared to healthy controls. Werner and control cells grown in 20 nM folate media also showed significant increases in G4 (p < 0.001) and γH2AX (p < 0.01) signals compared with the same cells grown in 200 nM folate. Control cells grown in 20 nM folate also showed a significant reduction in DNA methylation levels (P < 0.05). The results of this study suggest that the occurrence of DNA G4 structures can be modulated in vitro via nutrients with important roles in methylation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[St] Status:In-Data-Review

  8 / 2035 MEDLINE  
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[PMID]: 29374884
[Au] Autor:Zhu L; Lang JH; Song L
[Ti] Title:[Chinese expert consensus on the diagnosis and treatment of Herlyn-Werner-Wunderlich syndrome, Mayer-Rokitansky-Küster-Hauser syndrome and vaginal atresia].
[So] Source:Zhonghua Fu Chan Ke Za Zhi;53(1):35-42, 2018 Jan 25.
[Is] ISSN:0529-567X
[Cp] Country of publication:China
[La] Language:chi
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180128
[Lr] Last revision date:180128
[St] Status:In-Data-Review
[do] DOI:10.3760/cma.j.issn.0529-567X.2018.01.008

  9 / 2035 MEDLINE  
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[PMID]: 28466674
[Au] Autor:Ingegnoli F; Crotti C
[Ad] Address:Division of Rheumatology, ASST Gaetano Pini, Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano, Italy.
[Ti] Title:Nailfold scleroderma-like capillary abnormalities in Werner syndrome (adult progeria).
[So] Source:Vasc Med;22(3):246-247, 2017 06.
[Is] ISSN:1477-0377
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1705
[Cu] Class update date: 180118
[Lr] Last revision date:180118
[St] Status:In-Process
[do] DOI:10.1177/1358863X17692667

  10 / 2035 MEDLINE  
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[PMID]: 29239041
[Au] Autor:Guilmette J; Nosé V
[Ad] Address:Massachusetts General Hospital, Boston, MA, USA.
[Ti] Title:Hereditary and familial thyroid tumours.
[So] Source:Histopathology;72(1):70-81, 2018 Jan.
[Is] ISSN:1365-2559
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Hereditary thyroid neoplasms arising from calcitonin-producing C cells are known as familial medullary thyroid carcinomas (FMTCs), and include well-documented syndromes such as multiple endocrine neoplasia IIA or IIB, and pure familial medullary thyroid carcinoma syndrome. Familial thyroid cancers arising from follicular cells are referred to as familial non-medullary thyroid carcinoma (FNMTC), or familial follicular cell-derived carcinoma. Clinicopathological correlations have resulted in the further subclassification of FNMTCs into two groups. Among the first group are found syndromes characterised by a predominance of non-thyroidal tumours, including familial adenomatous polyposis, Cowden syndrome, Werner syndrome, Carney complex, and Pendred syndrome. The second group encompasses a spectrum of familial syndromes characterised by a predominance of non-medullary thyroid tumours, such as pure familial papillary thyroid carcinoma with or without oxyphilia, familial papillary thyroid carcinoma with papillary renal cell carcinoma, and familial papillary carcinoma with multinodular goitre. Most familial thyroid cancers have been described as being more aggressive than sporadic thyroid cancers, with a predisposition for lymph node metastasis, extrathyroidal invasion, and a younger age of onset. The distinct thyroid pathology in some of these syndromes should alert the pathologist to a possible familial cancer syndrome.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 171214
[Lr] Last revision date:171214
[St] Status:In-Process
[do] DOI:10.1111/his.13373


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