Results 51 to 60 of about 95,890 (268)

Werner Syndrome

open access: yes, 2019
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]

open access: yes, 2017
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]

open access: yesAnais 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   +3 more
doaj   +1 more source

Arabidopsis RecQl4A suppresses homologous recombination and modulates DNA damage responses [PDF]

open access: yes, 2005
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]

open access: yes, 2001
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

open access: yesFrontiers 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

Herlyn–Werner–Wunderlich syndrome

open access: yesMedical Journal of Dr. D.Y. Patil University, 2017
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

Small Nucleolar RNA Snord17 Promotes Self‐Renewal of Intestinal Stem Cells through Yy2 mRNA Export and Tead4 Activation

open access: yesAdvanced Science, EarlyView.
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

Toward Harmonizing Quantification of Dopamine Neuron Imaging Biomarkers in Parkinson's Disease: The Centamine Scale

open access: yesAnnals of Neurology, EarlyView.
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]

open access: yes, 2011
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

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