Results 161 to 170 of about 90,363 (315)

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

Comparison of 16S rRNA gene amplicon and whole-genome shotgun metagenomic sequencing for subgingival oral microbiome profiling. [PDF]

J Oral Microbiol
Park JH, Chung J, Lee HJ, Na HS.
europepmc   +1 more source

A Case of Distal Hereditary Motor Neuronopathy‐7 With Two Novel VWA1 Variants in Compound Heterozygosity

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Distal hereditary motor neuronopathy‐7 (HMNR7) is an autosomal recessive VWA1‐related disorder characterized predominantly by distal motor involvement. A 41‐year‐old man with a history of childhood orthopedic surgery for foot deformities exhibited progressive distal weakness and muscle atrophy with lower limb predominance. Electrophysiological
Toshiyuki Kakumoto, Kenta Orimo, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji   +4 more
wiley   +1 more source

Home and away: allometry and climate drive morphology of European rabbits in their native and introduced range

Oikos, EarlyView.
Climatic conditions shape phenotypic evolution by driving adaptations that optimise organismal function. Invasive species provide valuable systems to study these processes, as they often encounter novel climatic conditions in their introduced ranges. The European rabbit Oryctolagus cuniculus, native to the Iberian Peninsula, has established populations
Rishab Pillai, Natasha Lee Hiotis, Christine Böhmer, Cécile Callou, Thomas J. Nelson, Irina Ruf, Thomas J. Sanger, Julia Schaar, Kévin Le Verger, Madeleine Geiger, Brian Kraatz, Emma Sherratt   +11 more
wiley   +1 more source

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, Tanja Richter, Ester Mainini, Andreas Dufke, Annette Lischka, Matthias Begemann, Katja Eggermann, Thomas Eggermann, Silvia Russo   +10 more
wiley   +1 more source

Comparative studies of Pd, Ru, Ni, Cu/ZnAl2O4 catalysts for the water gas shift reaction

Open Chemistry, 2013
Mierczynski Pawel, Maniukiewicz Waldemar, Maniecki Tomasz   +2 more
doaj   +1 more source

A more complete picture: capturing single nucleotide variant diversity in extended-spectrum beta-lactamase producing <i>Escherichia coli</i> using post-enrichment metagenomics. [PDF]

Microb Genom
Gallichan S, Mäklin T, Picton-Barlow E, McKeown C, Forrest S, Corander J, Moore M, Feasey NA, Heinz E, Graf FE, Lewis JM.   +10 more
europepmc   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Wogonoside alleviates hyperosmotic stress-induced inflammation and apoptosis in human corneal epithelial cells via PI3K/AKT signaling. [PDF]

Front Med (Lausanne)
Zhong Y, Shi J, Long X, Liu X, Chen L, Peng J, Peng Q.   +6 more
europepmc   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source