Results 251 to 260 of about 1,962,192 (329)

Human genome sequence [PDF]

Nature, 1988
openaire   +2 more sources

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Disease coverage of human genome-wide association studies and pharmaceutical research and development. [PDF]

Commun Med (Lond)
Gordillo-Marañón M, Schmidt AF, Warwick A, Tomlinson C, Ytsma C, Engmann J, Torralbo A, Maclean R, Sofat R, Langenberg C, Shah AD, Denaxas S, Pirmohamed M, Hemingway H, Hingorani AD, Finan C.   +15 more
europepmc   +1 more source

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency

Genetics in Medicine Open
Charles Venditti, Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli   +11 more
doaj  

An autoantibody profile identified by human genome-wide protein arrays in rheumatoid arthritis. [PDF]

MedComm (2020)
Liu X, Zhang X, Kang YJ, Huang F, Liu S, Guo Y, Li Y, Yin C, Liu M, Han Q, Wang Q, Ye H, Yao H, Li C, Li J, Pingcuo W, Zhang Y, Su Y, Gao G, Li Z, Sun X.   +20 more
europepmc   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

P023: Using genomic databases to estimate rare disease prevalence: Application to disorders of propionyl-CoA oxidation

Genetics in Medicine Open
Jennifer Sloan, Camryn Hall, Irini Manoli, Charles Venditti   +3 more
doaj  

G-quadruplexes as pivotal components of cis-regulatory elements in the human genome. [PDF]

BMC Biol
Zhang R, Wang Y, Wang C, Sun X, Mergny JL.   +4 more
europepmc   +1 more source

Whole‐Blood RNA Sequencing Profiling of Patients With Rheumatoid Arthritis Treated With Tofacitinib

ACR Open Rheumatology, EarlyView.
Objective Patients with rheumatoid arthritis (RA) often fail to respond to therapies, including JAK inhibitors (JAKi), and treatment allocation is made via a trial‐and‐error strategy. A comprehensive analysis of responses to JAKi, including tofacitinib, by RNA sequencing (RNAseq) would allow the discovery of transcriptomic markers with a two‐fold ...
Chiara Bellocchi, Ennio Giulio Favalli, Gabriella Maioli, Elena Agape, Marzia Rossato, Matteo Paini, Adriana Severino, Barbara Vigone, Martina Biggioggero, Elena Trombetta, Roberto Caporali, Lorenzo Beretta   +11 more
wiley   +1 more source