Results 271 to 280 of about 588,273 (328)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Evaluating the usefulness of C5 and C5AR1 as genetic biomarkers of IgA-mediated vasculitis. [PDF]

Mol Med
Batista-Liz JC, Calvo-Río V, Mora-Gil MS, Leonardo MT, Peñalba AC, Martín-Penagos L, Narváez J, Sevilla-Pérez B, Callejas-Rubio JL, Gabrie L, Sánchez RG, Caminal-Montero L, Collado P, Valls MJR, de Argila D, Quiroga-Colina P, Vicente-Rabaneda EF, Rubio E, Luque ML, Blanco-Madrigal JM, Galíndez-Agirregoikoa E, Blanco R, Pulito-Cueto V, López-Mejías R.   +23 more
europepmc   +1 more source

Development of CSSLs from a cross between cultivated peanut and a wild synthetic amphidiploid [PDF]

, 2008
Faye, Issa, Foncéka, Daniel, Ndoye, Ousmane, Rami, Jean-François, Tossim, Hodo-Abalo   +4 more
core  

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Cross-Trait Genome-Wide Association Study Identifies Shared Genetic Risk Loci Between COPD and Five Autoimmune Diseases. [PDF]

Int J Chron Obstruct Pulmon Dis
Wen H, Zhang R, Zhong B, Liu H, Liu C.
europepmc   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

Structural basis of K11/K48-branched ubiquitin chain recognition by the human 26S proteasome. [PDF]

Nat Commun
Draczkowski P, Chen SN, Chen T, Wang YS, Shih HA, Huang JYC, Tsai MC, Lin SY, Lin S, Viner R, Chang YC, Wu KP, Hsu SD.   +12 more
europepmc   +1 more source

Association between <i>MTHFR</i> gene polymorphisms and H-type hypertension in patients with ischemic stroke. [PDF]

PeerJ
Zhou B, Yang T, An S, Xu Q, Liang Y, An X.   +5 more
europepmc   +1 more source

Integration of QTL mapping and GWAS reveals the complicated genetic architecture of chemical composition traits in tobacco leaves. [PDF]

Front Plant Sci
Ullah A, Tong Z, Kamran M, Lin F, Zhu T, Shahzad M, Umaira, Chen X, Xiao B, Xu H.   +9 more
europepmc   +1 more source

Linkage map construction and QTL mapping for morphological traits in Ipomoea trifida, a diploid sweetpotato relative. [PDF]

Plant Genome
Alves da Mata AP, Gemenet DC, Diaz F, David M, Mosquera V, Bachega Feijó Rosa JR, Gonçalves Dos Santos I, de Siqueira Gesteira G, Mollinari M, Khan A, Yencho GC, Zeng ZB, da Silva Pereira G.   +12 more
europepmc   +1 more source