Results 151 to 160 of about 42,277 (287)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

The kinesiotherapy effect on neck pain among women office workers.

, 2020
The problem of research: Neck pain is one of the most common health problem among office workers (Kocur et al., 2019). The purpose of research: to evaluate kinesiotherapy effect in the neck pain, pain threshold, kinesiophobia, neck range of motion, deep ...
Miravinskaitė, Gabrielė,
core  

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

A novel mouse model of endometriosis: Simulating the recurrent hemorrhagic microenvironment of clinical lesions

Animal Models and Experimental Medicine, EarlyView.
To address the limitations of existing models, this study innovatively established a mouse model of endometriosis (EMs) capable of mimicking cyclic bleeding. Our results confirmed that this model recapitulates the complete pathological progression from ectopic lesion establishment to systemic responses, exhibiting superior clinical relevance compared ...
Yu Zhuang, Yan Zan, Tiantian Ma, Xiaoquan Huang, Junwei Li, Liangjun Xia, Yuping Sa, Youbing Xia   +7 more
wiley   +1 more source

An investigation into the ultrastructural parameters of abdominal muscles in children and adolescents with spastic type cerebral palsy and the effect on postural muscle performance

, 2014
Includes bibliographical references.Cerebral palsy (CP) is an abnormality in motor function and postural tone that usually occurs at an early age. Spastic type cerebral palsy (STCP) - the most common type of motor disorder - involves increased muscle ...
Adjenti, Saviour Kweku
core  

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

Linköping University Post Print A tissue velocity ultrasound imaging investigation of the dorsal neck muscles during resisted isometric extension A Tissue Velocity Ultrasound Imaging Investigation of the Dorsal Neck Muscles during Resisted Isometric Exten

, 2020
Persons with neck pain exhibit altered patterns of muscle patterning, but limited investigations have been carried out on these alterations or muscle patterning in healthy volunteers.
Anneli Peolsson, PhD Lars-Åke Brodin, PhD, RPT Anneli Peolsson, PhD, CE, RN Michael Peolsson, Prof Assoc Anneli Peolsson, Lars-Ake Brodin, Michael Peolsson   +6 more
core  

Effects of short break neck stretching on neck pain and surface EMG median frequency changes in office workers

Journal of Associated Medical Sciences, 2011
Introduction: Chronic neck pain is a very common complaint among computer users and considered to be a serious work-related musculoskeletal disorder (WRMSD).
Atipon Methatip, Pongsak Yuktanandana
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