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The Werner syndrome is a segmental progeroid syndrome of adult onset characterized by the presence of multiple features resembling accelerated aging accompanied by rare tumors. Commonly, the first symptom is the lack of growth spurt during one’s teens.
Perona Abellón, Rosario +3 more
openaire +2 more sources
Patient-Reported Disability Measures Do Not Correlate with Electrodiagnostic Severity in Carpal Tunnel Syndrome. [PDF]
BACKGROUND: Electrophysiologic studies including electromyography and nerve conduction studies play a role in the evaluation of carpal tunnel syndrome (CTS), despite evidence that these studies do not correlate with CTS-specific symptom scores.
Atroshi +25 more
core +2 more sources
Recurrent skin ulcer cross-repair and sensory reconstruction in a WRN gene mutational patient [PDF]
: 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 +3 more
doaj +1 more source
Arabidopsis RecQl4A suppresses homologous recombination and modulates DNA damage responses [PDF]
The DNA damage response and DNA recombination are two interrelated mechanisms involved in maintaining the integrity of the genome, but in plants they are poorly understood.
Bachrati +64 more
core +3 more sources
Achievable rates for the Gaussian quantum channel [PDF]
We study the properties of quantum stabilizer codes that embed a finite-dimensional protected code space in an infinite-dimensional Hilbert space. The stabilizer group of such a code is associated with a symplectically integral lattice in the phase space
A. Steane +25 more
core +2 more sources
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA
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
Herlyn–Werner–Wunderlich syndrome
Herlyn–Werner–Wunderlich syndrome is a rare developmental anomaly, in which there is uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis.
Himadri Bal +3 more
doaj +1 more source
Snord17, through interaction with Thoc3, promotes nuclear export and translation of Yy2 mRNA in Snord17+/+ ISCs. The Yy2 protein subsequently binds the Tead4 promoter to promote its transcription, activating Hippo signaling, which is essential for ISC maintenance.
Peikang Zhang +10 more
wiley +1 more source
Objective Dopaminergic imaging is a key biomarker for both the investigation of the biology of Parkinson's disease and related synucleinopathies and the evaluation of potential therapies in clinical trials. This work presents a harmonized approach for quantifying dopaminergic molecular imaging tracers, such as [123I]ioflupane (dopamine transporter scan
Zhen Fan +174 more
wiley +1 more source
Attention Deficit Disorder, Residual Type- A Case Study [PDF]
The syndrome of Minimal Brain Dysfunction (MBD) in children has been well described by a number of authors. Such children were first described in 1941 by Werner and Strauss(1) who made a distinction between brain injury and -simple- mental retardation ...
Stanch, MD, James
core +1 more source

