Results 91 to 100 of about 47,101 (300)

A Rare Case of Charcot-Mari-Tooth Disease Type 2S in a 20-year-old Man [PDF]

International Journal of Biomedicine, 2017
Charcot-Marie-Tooth disease type 2 (CMT2S) is rare form of Charcot-Marie-Tooth disease (CMT) that is characterized by a mutation in the IGHMBP2 gene. This gene encodes a helicase superfamily member that binds a specific DNA sequence from the region of ...
Natalia A. Shnayder, Olga V. Petryaeva, Ivan P. Artyuhov, Margarita R. Sapronova, Irina O. Loginova   +4 more
doaj   +1 more source

Environmental toxicity influences disease spread in consumer population [PDF]

arXiv, 2022
The study of infectious disease has been of interest to ecologists since long. The initiation of epidemic and the long term disease dynamics are largely influenced by the nature of the underlying consumer (host)-resource dynamics. Ecological traits of such systems may be often modulated by toxins released in the environment due to ongoing anthropogenic
arxiv  

Acquired pes cavus in Charcot-Marie-Tooth disease [PDF]

, 2009
As neuropatias sensitivomotoras hereditárias, principalmente a doença de Charcot-Marie-Tooth, manifestam-se frequentemente com o aparecimento de pé cavovaro, deformidade caracterizada pela acentuação fixa do arco plantar e inversão do retropé.
MARANHO, Daniel Augusto Carvalho, VOLPON, José Batista   +1 more
core   +2 more sources

ERNEST COST action overview on the (patho)physiology of GPCRs and orphan GPCRs in the nervous system

British Journal of Pharmacology, EarlyView.
G protein‐coupled receptors (GPCRs) are a large family of cell surface receptors that play a critical role in nervous system function by transmitting signals between cells and their environment. They are involved in many, if not all, nervous system processes, and their dysfunction has been linked to various neurological disorders representing important
Necla Birgül Iyison, Clauda Abboud, Dayana Abboud, Abdulrasheed O. Abdulrahman, Ana‐Nicoleta Bondar, Julie Dam, Zafiroula Georgoussi, Jesús Giraldo, Anemari Horvat, Christos Karoussiotis, Alba Paz‐Castro, Miriam Scarpa, Hannes Schihada, Nicole Scholz, Bilge Güvenc Tuna, Nina Vardjan   +15 more
wiley   +1 more source

Non-Coding RNAs Improve the Predictive Power of Network Medicine [PDF]

arXiv, 2022
Network Medicine has improved the mechanistic understanding of disease, offering quantitative insights into disease mechanisms, comorbidities, and novel diagnostic tools and therapeutic treatments. Yet, most network-based approaches rely on a comprehensive map of protein-protein interactions, ignoring interactions mediated by non-coding RNAs (ncRNAs ...
arxiv  

From the cell membrane to the nucleus: unearthing transport mechanisms for Dynein [PDF]

, 2012
Mutations in the motor protein cytoplasmic dynein have been found to cause Charcot-Marie-Tooth disease, spinal muscular atrophy, and severe intellectual disabilities in humans. In mouse models, neurodegeneration is observed.
A. Friedman, A. G. Hendricks, A. G. Hendricks, A. J. Roberts, A. Kunwar, A. P. Carter, A. V. Kuznetsov, A. V. Kuznetsov, Anotida Madzvamuse, C. Korn, C. L. Brown, Caroline A. Garrett, D. A. Smith, D. Tsygankov, E. Bananis, J. L. Ross, J. Munárriz, J. W. Driver, J. W. Murray, J. W. Wojcieszyn, K. Imamula, K. M. Ori-McKenney, K. S. Zadeh, L. W. Duchen, Laurie Crossley, M. A. Gee, M. B. Harms, M. Bier, M. H. Willemsen, M. Hafezparast, M. N. Weedon, M. Schliwa, M. Schuster, M. Schuster, Majid Hafezparast, O. J. Driskell, P. Ashwin, R. D. Vale, S. A. Burgess, S. Ally, S. C. Schaffner, S. Hoepfner, S. Lubery, S. Mitragotri, S. Mukherji, T. D. Pollard, T. Kon, V. Soppina, W. Deng, X. J. Chen, Y. Gao, Y. Imafuku, Y. Zhang, Y. Zhang   +53 more
core   +1 more source

Pathogenic variants in chromatin‐related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders

Developmental Medicine &Child Neurology, EarlyView.
Chromatin machinery influences how DNA is ‘wrapped’ around histones in the nucleosome of immune and brain cells. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16299 Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B.
Russell C. Dale, Shekeeb Mohammad, Velda X. Han, Hiroya Nishida, Himanshu Goel, Stuart G. Tangye, Georgina Hollway, Esther Tantsis, Deepak Gill, Shrujna Patel, Chromatin Immune‐Brain Group, Michael Lonergan, Melanie Wong, Kavitha Kothur, Erica Tsang   +14 more
wiley   +1 more source

Rehabilitation in Charcot-Marie-Tooth disease type 1

Advances in Clinical Neuroscience & Rehabilitation, 2014
Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy with a prevalence of approximately 1 in 2,500 [1]. The most common subtype is the autosomal dominant type 1A, which is caused by an intrachromosomal duplication on chromosome ...
Manoj Mannil, Chandini Kadian, Elisabeth Futterlieb, Michael W Sereda   +3 more
doaj   +1 more source

Time series analysis of Parkinson's disease, Huntington's disease and Amyotrophic Lateral Sclerosis [PDF]

arXiv, 2013
The aim of this paper is to study the (clinical) time-series data of three diseases with complex dynamics: Parkinson's disease, Huntington's disease and Amyotrophic Lateral Sclerosis. For this purpose, first all of the time series data are embedded in a vector space of suitable dimension and then the correlation dimension of the above mentioned ...
arxiv  

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs and symptoms of human Mendelian diseases in databases such as OMIM and Orphanet.
arxiv   +1 more source