Results 151 to 160 of about 1,974,376 (233)

Systematic pathway‐level analysis defines conserved transcriptional divergence between primary lung tumors and cell line models

Animal Models and Experimental Medicine, EarlyView.
Lung cancer cell lines diverge substantially from primary tumors at the transcriptional level. Using single‐sample gene set enrichment analysis and L1‐penalized feature selection across TCGA‐LUAD and CCLE‐LUAD, we identified five Hallmark pathways (E2F targets, G2M checkpoint, IFNγ response, coagulation, and EMT) that discriminated primary tumors from ...
Pritam Bera, Rajesh Raju, Debodipta Das
wiley   +1 more source

Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease

Molecular Genetics and Metabolism Reports
Introduction: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-1,4-glucosidase (GAA; EC 3.2.1.20), encoded by the GAA gene, leading to progressive neuromuscular deterioration. The mutational spectrum of
Carmen Alaez-Verson, Carlos Alberto González-Domínguez, Imelda Vergara Sanchez, Luz María Sanchez Sanchez, Ivonne Natalia Flores, Ekaterina Kazakova, Joaquin Garcia-Solorio, Carolina Molina-Garay, Luis Leonardo Flores-Lagunes, Ivan Martínez Duncker   +9 more
doaj   +1 more source

Plasma apoA-I and HDL cholesterol in percentiles for nonsynonymous and synonymous variants in APOA1.

, 2012
Data are from the Copenhagen City Heart Study (CCHS). Each dot represents an individual with a given genetic variant. Percentiles are corrected for gender and age.
Christiane L. Haase (114867), Ruth Frikke-Schmidt (114871), Børge G. Nordestgaard (89871), Anne Tybjærg-Hansen (114875)   +3 more
core   +1 more source

Comparative analysis of TP53 gene in Tupaia belangeri subspecies (Tupaia belangeri yaoshanensis vs. Tupaia belangeri chinensis) and identification of mutations in spontaneous tumor cases

Animal Models and Experimental Medicine, EarlyView.
This study provides the first evidence of natural TP53 variation between tree shrew subspecies and identifies somatic TP53 mutations in spontaneous tree shrew sarcomas. The high structural and functional conservation of tree shrew p53 with humans supports its utility as a relevant model for TP53‐related cancer research.
Yingying Cao, Haibo Tang, Liang Liang, Jing Leng, Weijian Huang   +4 more
wiley   +1 more source

Synonymous variants in enhancer and splicing regions identified in families co-segregating with ET based on MM-KBAC analysis of rare variants.

, 2019
Synonymous variants in enhancer and splicing regions identified in families co-segregating with ET based on MM-KBAC analysis of rare variants.
Zagaa Odgerel (7208363), Shilpa Sonti (7208366), Jemin Park (7208372), Nora Hernandez (7208369), Lorraine N. Clark (7208378), Elan D. Louis (7208375), Ruth Ottman (242279)   +6 more
core   +1 more source

BarnebyLives: An R package to create herbarium specimen labels and clean spreadsheets

Applications in Plant Sciences, EarlyView.
Abstract Premise Accessioning herbarium specimens is labor intensive, yet remains vital for research in ecology, evolution, and conservation. As institutional support for herbaria declines, efficient tools are needed to streamline this process. The R package BarnebyLives was developed to assist collectors by supplementing collection notes, verifying ...
Reed Clark Benkendorf, Jeremie B. Fant
wiley   +1 more source

refloraR: An R package for efficiently retrieving and analyzing plant specimen data from the Herbário Virtual Reflora

Applications in Plant Sciences, EarlyView.
Abstract Premise Advances in the digitization of herbarium collections are enabling open access to specimen data for research and conservation. In Brazil, the Herbário Virtual Reflora (HVR) hosts over 4.8 million high‐resolution images of botanical specimens and their associated data from 86 national and international herbaria.
Carlos Calderón del Cid, Ana Flávia Alves Versiane, Paula Leitman, Fabiana Ranzato Filardi, Rafaela Campostrini Forzza, Domingos Cardoso   +5 more
wiley   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier–Gorlin syndrome-7 using whole exome sequencing

Human Genomics
Background Meier–Gorlin syndrome-7 (MGORS7) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous variants in the CDC45 gene.
Jianlong Zhuang, Nan Huang, Junyu Wang, Chunnuan Chen   +3 more
doaj   +1 more source

Origin, evolution and biogeographic dynamics of the European rabbit (Oryctolagus cuniculus) in Southwestern Europe

The Anatomical Record, EarlyView.
Abstract The Pleistocene is a key period for understanding the evolutionary history and palaeobiogeography of the European rabbit (Oryctolagus cuniculus). The species was first documented in southeastern Iberia at the beginning of the Middle Pleistocene and appears to have rapidly spread throughout Southwestern Europe, where it was found in numerous ...
Maxime Pelletier
wiley   +1 more source