Results 71 to 80 of about 21,237 (225)

Functional characterization of 42 CK2α de novo variants associated with Okur‐Chung neurodevelopmental syndrome

open access: yesThe FEBS Journal, EarlyView.
Okur‐Chung neurodevelopmental syndrome (OCNDS) is a neurodevelopmental disorder associated with mutations in the gene coding for Protein kinase CK2α. In this work, 42 variants of CK2α associated with OCNDS were characterized in vitro. This included determination of catalytic activity and CK2α/CK2β‐interaction as well as an assessment of evolutionary ...
Alexander Gast   +3 more
wiley   +1 more source

Werner syndrome diagnostic confidence categories.

open access: yes, 2013
Diagnostic criteria and categorization notes:*WS diagnostic confidence categories were taken from the International Registry of Werner Syndrome: www.wernersyndrome.org/registry/diagnostic.html with the following modifications: 1 ...
Alison Krause (396849)   +3 more
core   +1 more source

Telomere-based proliferative lifespan barriers in Werner-syndrome fibroblasts involve both p53-dependent and p53-independent mechanisms [PDF]

open access: yes, 2003
Werner-syndrome fibroblasts have a reduced in vitro life span before entering replicative senescence. Although this has been thought to be causal in the accelerated ageing of this disease, controversy remains as to whether Werner syndrome is showing the ...
Wyllie, Fiona Sandra   +19 more
core   +1 more source

Geriatric Models of Surgical Care: A Scoping Review

open access: yesJournal of Advanced Nursing, EarlyView.
ABSTRACT Aim To synthesise literature on hospital‐based geriatric models of care for older adults undergoing surgery, examining structures, team composition, governance and nursing contributions. Design Scoping review. Methods Following JBI methodology, two reviewers independently screened articles against eligibility criteria (Population: adults ≥ 65 ...
Sarah Hughes   +3 more
wiley   +1 more source

Urological anomalies in OHVIRA syndrome (Herlyn-Werner-Wunderlich syndrome)

open access: yes, 2022
We provide a systematic review of articles related to OHVIRA syndrome (Herlyn-Werner-Wunderlich syndrome), found in PubMed/MedLine, Web of Science, Scopus, Scirus, The Cochrane Library and eLIBRARy to show how the urological component of this congenital ...
N. A. Kokhreidze   +3 more
core   +1 more source

Refractory Motor Complications: Towards a Pragmatic Definition

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Georg Ebersbach, Tobias Warnecke
wiley   +1 more source

The Expression and Potential Role of MicroRNAs in Oral Lichen Planus

open access: yesJournal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Background Oral lichen planus (OLP) is a chronic T‐cell‐mediated immune disease of unknown aetiology. MicroRNA (miRNAs) are short non‐coding RNAs capable of regulating mRNA and may have roles in T‐cell‐related diseases. The aim of this study was to investigate the profile of miRNAs in OLP patients and its interaction with potential target ...
Mousa Ali Heba   +3 more
wiley   +1 more source

Herlyn—Werner—Wunderlich Syndrome: Premenarche

open access: yes, 2017
Aim To increase awareness about this rare condition in order to aid early diagnosis and effective treatment which can eventually prevent complications and infertility issues in the future.
Anita David, R Shankar, Shobha N Gudi
core   +1 more source

Is sleep affected after microgravity and hypergravity exposure? A pilot study

open access: yesJournal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Sleep is known to be affected in space travel and in residents of the international space station. But little is known about the direct effects of gravity changes on sleep, if other factors, such as sleep conditions, are kept constant. Here, as a first exploration, we investigated sleep before and after exposure to short bouts of microgravity ...
Barbara Le Roy   +9 more
wiley   +1 more source

Werner's syndrome and malignancy

open access: yesActa Dermato-Venereologica, 1976
Ten per cent of all patients with Werner's syndrome develop some form of malignant disease, half of them sarcomas. A case of Werner's syndrome is reported in which the patient had a malignant fibroxanthoma of the thigh followed by a papillary cystadenocarcinoma of the ovaries. A brother with clinical signs of Werner's syndrome died of acute leukaemia.
openaire   +2 more sources

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