Results 141 to 150 of about 52,464 (357)

Whole-genome sequencing and the clinician: a tale of two cities [PDF]

, 2014
Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley, Dickens, Dubowitz, F. Muntoni, Foley, Gualandi, J. He, J. Kim, Jöbsis, Jöbsis, Kim, Lupski, M. G. Hanna, Mercuri, Mercuri, Morrow, N. M. Pearson, Pace, Pan, Phimister, R. D. S. Pitceathly, Straub   +21 more
core   +2 more sources

ESR1 Variants and Subcontinental Genomic Ancestry: Insights from the 1000 Genomes Project and Native American Populations

Clinical Pharmacology &Therapeutics, EarlyView.
The ESR1 gene is relevant in breast cancer treatments in the pharmacogenetics context. However, Native, African, and mixed populations are known to be underrepresented in genomic studies. This is particularly important given that the difference in variants' frequencies among different populations can lead to population‐specific clinical implications ...
Mariana M. Scudeler, Caíque Manóchio, Bruno Miwa, Guilherme Belfort‐Almeida, Lucas Faria‐Costa, Cesar Sanchez, Carlos Padilla, Omar Caceres, Eduardo Tarazona‐Santos, Heinner Guio, Timothy D. O'Connor, Fernanda Rodrigues‐Soares   +11 more
wiley   +1 more source

CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies

WIREs Mechanisms of Disease, Volume 15, Issue 1, January/February 2023., 2023
CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract CRISPR gene‐editing technology creates precise and permanent modifications to DNA.
Yu C. J. Chey, Jayshen Arudkumar, Annemieke Aartsma‐Rus, Fatwa Adikusuma, Paul Q. Thomas   +4 more
wiley   +1 more source

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex

Orphanet Journal of Rare Diseases, 2019
Background Dystrophin-glycoprotein complex (DGC)-related muscular dystrophies may present similar clinical and pathological features as well as undetectable mutations thus being sometimes difficult to distinguish.
Zhiying Xie, Zhihao Xie, Meng Yu, Yiming Zheng, Chengyue Sun, Yilin Liu, Chen Ling, Ying Zhu, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang, Yun Yuan   +11 more
doaj   +1 more source

iASiS Open Data Graph: Automated Semantic Integration of Disease-Specific Knowledge [PDF]

arXiv, 2019
In biomedical research, unified access to up-to-date domain-specific knowledge is crucial, as such knowledge is continuously accumulated in scientific literature and structured resources. Identifying and extracting specific information is a challenging task and computational analysis of knowledge bases can be valuable in this direction.
arxiv  

Fatigue in muscular dystrophies

Neuromuscular Disorders, 2012
Fatigue is a frequent complaint in muscular dystrophies but it is yet not well defined or studied. We have examined the issue of muscle fatigue in a series of molecularly defined muscular dystrophies. A greater fatigability is seen in muscular dystrophy patients and can be an acute or chronic status.
Elisabetta Tasca, Corrado Angelini
openaire   +4 more sources

Muscular dystrophies: key elements for everyday diagnosis and management

Cardiogenetics, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life.
Alberto Palladino, Gerardo Nigro, Luisa Politano   +2 more
doaj   +1 more source

Genetics and the muscular dystrophies [PDF]

Developmental Medicine & Child Neurology, 2000
Muscular dystrophy classification and diagnosis has been transformed over the 13 or so years since the cloning of the dystrophin gene (involved in Duchenne and Becker muscular dystrophy). A child or adult presenting with a muscular dystrophy can now expect a precise diagnosis.
openaire   +3 more sources

Clinical and Molecular Diagnosis in Muscular Dystrophies [PDF]

, 2019
Muscular dystrophies are a diverse group of inherited muscle disorders with a wide range of clinical manifestations from a severe form with early onset and early death to adult forms with later onset and minimal clinical manifestation that do not affect ...
Budisteanu, Magdalena, Gaina, Gisela, Ionica, Elena, Manole, Emilia   +3 more
core   +2 more sources

Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain

Developmental Dynamics, EarlyView.
Abstract Background In mammals, specific brain regions such as the dentate gyrus (DG) of the hippocampus and the subventricular zone (SVZ) of the lateral ventricles harbor adult neural stem/progenitor cells (ANSPCs) that give rise to new neurons and contribute to structural and functional brain plasticity.
Diana Zhilina, Lizbeth A. Bolaños Castro, Juan Sebastian Eguiguren, Sara Zocher, Anne Karasinsky, Dimitri Widmer, Alexandre Espinós, Victor Borrell, Michael Brand, Kyoko Miura, Oliver Zierau, Maximina H. Yun, Tomohisa Toda   +12 more
wiley   +1 more source