Results 251 to 260 of about 3,521,036 (316)

Characterization of the complete mitochondrial genome of <i>Rhododendron simsii</i> var. <i>putuoense</i> and its comparative evolutionary analysis. [PDF]

Front Plant Sci
Zhu H, Yue C.
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

The complete chloroplast genome of <i>Cynanchum hemsleyanum</i> and its phylogenetic analysis. [PDF]

Mitochondrial DNA B Resour
Li M, Xu Y, Xu R, Bi K, Xiong C.
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Improving grain yield prediction in Southern US oat germplasm using genomics information and environmental covariates. [PDF]

Plant Genome
Adewale SA, Babar MA, Jarquin D, Khan N, Harrison S, DeWitt N, Boyles R, Liu S, Melson E, Hathcoat D, Fiedler JD, Nandety RS.   +11 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Complete genome sequence of <i>Bacillus subtilis</i> strain S-LA1, a potential plant probiotic endophyte from the medicinal plant <i>Leucas aspera</i>. [PDF]

Microbiol Resour Announc
Sujon MSP, Islam S, Badhon AK, Eva JF, Gupta DR, Islam T.   +5 more
europepmc   +1 more source

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Upstream, downstream: nemo learns where plant regulatory sequences act. [PDF]

Plant Physiol
Lohani N, Thomas WJW.
europepmc   +1 more source

The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti, Sheena Waters, Adil Harroud, Pernilla Stridh, Ruth Dobson, Benjamin M. Jacobs   +5 more
wiley   +1 more source