Results 41 to 50 of about 21,237 (225)

WRN mutations in Werner Syndrome [PDF]

Human Mutation, 1999
Werner syndrome (WS) is one of a group of human genetic diseases that have recently been linked to deficits in cellular helicase function. We review the spectrum of WS-associated WRN mutations, the organization and potential functions of the WRN protein, and potential mechanistic links between the loss of WRN function and pathogenesis of the WS ...
M J, Moser, J, Oshima, R J, Monnat
openaire   +2 more sources

Recurrent skin ulcer cross-repair and sensory reconstruction in a WRN gene mutational patient [PDF]

Anais Brasileiros de Dermatologia, 2018
: A 37-year-old man complained of a refractory posterior malleolar ulceration on his left ankle. He was diagnosed with Werner syndrome according to the progeroid clinical features and genetic testing. To approach the ulceration, a free flow-through right
Jiqiang He, Ding Pan, Panfeng Wu, Juyu Tang   +3 more
doaj   +1 more source

Herlyn-Werner-Wunderlich syndrome: A case report in a young woman, with literature review

Radiology Case Reports, 2022
Herlyn-Werner-Wunderlich syndrome is a rare complex congenital disorder, with combined Müllerian and mesonephric duct anomalies, presenting with uterus didelphys, unilateral blind hemivagina and ipsilateral renal agenesis. Hemivaginal obstruction usually
Eduardo Negrão, MD, Beatriz Flor-de-Lima, MD, Sílvia Costa Dias, MD, Luís Guimarães, MD, PhD, António J. Madureira, MD   +4 more
doaj   +1 more source

Werner syndrome

, 2000
Review on Werner syndrome, with data on clinics, and the genes ...
M Amor-Guéret, Amor-Guéret, M
core   +1 more source

Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA

Frontiers in Endocrinology, 2018
Introduction: Werner syndrome is a rare genetic disorder; classical Werner syndrome is caused by mutations in the WRN gene. However, recent research has shown that LMNA gene mutations can also cause premature ageing syndromes such as atypical Werner ...
Xiao Yanhua, Xiao Yanhua, Zhou Suxian
doaj   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Werner's syndrome and arteriosclerosis.

Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics, 1988
当科にて経験した Werner 症候群の一剖検例を呈示し, さらに通院中の本症候群患者7例も含めて動脈硬化症の評価とその危険因子の検討を行った. その結果, (1)この一剖検例では, 大動脈, 冠動脈, 脳底動脈に中等度の atheroma (内膜の脂質蓄積, 細胞と線維の増生, 石灰沈着) を認め, それらは通常みられる粥状硬化症と本質的な差違はなかった. (2)本症候群8例とも, 動脈硬化の危険因子 (脂質代謝異常8例, 糖尿病5例, 高尿酸血症2例. 高血圧症2例, 喫煙歴2例) を最低一項目以上合併しており, 臨床的指標でとらえた動脈硬化症も進行していると考えられた.Werner 症候群にみられる動脈硬化症が, 本症候群に合併する上述の危険因子の関与のみによるものか ...
Mori, Seijiro, Morisaki, Nobuhiro, Murano, Shunichi, Shirai, Koji, Saito, Yasushi, Yoshida, Sho, Akikusa, Bunshiro   +6 more
openaire   +3 more sources

Diffusion MRI and α‐Synuclein Seed Amplification Status in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Positive α‐synuclein seed amplification assay (SAA) is a biomarker found in most people with Parkinson's disease (PD). We explored if free‐water (FW) imaging detects microstructural differences in the brains of patients with early PD with SAA+ or SAA– status.
Shannon Y. Chiu, Wei‐en Wang, Robin Chen, Jesse C. DeSimone, Derek B. Archer, Charles H. Adler, Shyamal H. Mehta, Sara R. Dresler, Melissa J. Armstrong, Nikolaus McFarland, Michael Okun, David E. Vaillancourt, Parkinson's Progression Markers Initiative, Neha Prakash, Tanya Simuni, Nabila Dahodwala, Caroline Tanner, Lana Chahine, Brit Mollenhauer, Anat Mirelman, Roy Alcalay; Katherine Leaver, Marie Saint‐Hilaire, Ruth Schneider, Christopher Tarolli, Werner Poewe, Aleksandar Videnovic, David Standaert, Marissa Dean, Sonja Jonsdottir, Rejko Krueger, Claire Pauly, Stewart Factor, Penelope Hogarth, Robert Hauser, Amy Amara, Michelle Fullard, Cyrus Zabetian, Hubert Fernandez, Kathrin Brockmann, Isabel Wurster, Yen Tai, Paolo Barone, Marina Picillo, Stuart Isaacson, Alberto Espay, Eduardo Tolosa, Javier Ruiz Martinez, Leonidas Stefanis, Kelvin Chou, Lorraine Kalia, Connie Marras, David Grimes, Tiago Mestre, Rajesh Pahwa, Mark Lew, Holly Shill, Shyamal Mehta, Giulietta Riboldi, Nikolaus McFarland, Ron Postuma, Zoltan Mari, David Ledingham, Nicola Pavese, Michele Hu, Norbert Brueggemann, Christine Klein, Bastiaan Bloem, Cristina Simonet, Alastair Noyce, Anette Janzen, David Pedrosa, Wolfgang Oertel, Njideka Okubadejo, David Shprecher, Arjun Tarakad, Emile Moukheiber, Joy Antala, Carla Aranda, Karen Williams, Sophia Melton, Karina Benson, Ashwini Ramachandran, Danielle Potts, Grace LaMoure, Ritikha Vengadesh, Ryan Manzler, Jaime Heller, Primi Ranola, Farah Kausar, Sherri Mosovsky, Diana Willeke, Elizabeth Kalinkara Gomez, Janelle Rodriguez, Nobuko Kemmotsu, May Eshel, Deborah Raymond, Abigail Desrosiers, Raymond James, Lauren Jackson, Iris Egner, Wesley Schlett, Courtney Blair, Lauren Ruffrage, Berenice Sevilla, Barbara Sommerfeld, Dustin Le, Erica Botting, Gabriella Mazur, Daniele Derlein, Ying Liu, Ciera Cobb, Olivia Masiewicz, Jennifer Mule, Michael Morsillo, Ella Hilt, Lisbeth Pennente, Bobbie Stubbeman, Alicia Garrido, Valeria Ravasi, Ioana Croitoru, Christos Koros, Nikolas Papagiannakis, Frank Ferrari, Mengyu Zheng, Shawna Reddie, Alicia Alejandra, Andrea Gray, Alejandra Valenzuela, Caitlin Goodman, Sara Dresler, Neil Santos, Fahrial Esha, Kyle Rizer, Nadine Zablith, Liliana Dumitrescu, Debra Galley, Victoria Kate Foster, Jamil Razzaque, Madita Grümmer, Yara Krasowski, Elisabeth Sittig, Oluwadamilola Ojo, Kelly Clark, Rory Mahabir, Kori Ribb, Shamera Willoughby   +145 more
wiley   +1 more source

Lean ZSF1 rats in basic research on heart failure with preserved ejection fraction

ESC Heart Failure, Volume 12, Issue 2, Page 1474-1478, April 2025.
Abstract Aims ZSF1 obese rats harbouring two mutant leptin receptor alleles (Leprcp and Leprfa) develop metabolic syndrome and heart failure with preserved ejection fraction (HFpEF), making them a widely used animal model in cardiometabolic research.
Petra Büttner, Antje Augstein, Mahmoud Abdellatif, André Lourenço, Adelino Leite‐Moreira, Inês Falcão‐Pires, Sarah Werner, Holger Thiele, Simon Sedej, Antje Schauer, Volker Adams   +10 more
wiley   +1 more source

Wunderlich--Herlyn--Werner syndrome

, 2016
A 25 year old married and nulliparous woman with regular menstrual cycles presented with dyspareunia, infertility, increasing dysmenorrhea and recent onset vulval swelling in the gynaec outpatient department at Bhaskar medical college & Bhaskar ...
Kavati, Vasantha, Murthy, NVR, Kothapally, Kavitha Reddy, Biswas, Sathyakumar, Panditi, Surekha   +4 more
core   +1 more source