Results 51 to 60 of about 427,317 (231)

Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain. [PDF]

, 2009
Alpha-synuclein (SNCA) gene has been implicated in the development of rare forms of familial Parkinson disease (PD). Recently, it was shown that an increase in SNCA copy numbers leads to elevated levels of wild-type SNCA-mRNA and protein and is ...
Bernard, David J, Chiba-Falek, Ornit, Cronin, Kenneth D, El-Agnaf, Omar MA, Ge, Dongliang, Linnertz, Colton, Manninger, Paul, Nussbaum, Robert L, Orrison, Bonnie M, Rossoshek, Anna, Schlossmacher, Michael G   +10 more
core   +2 more sources

Evaluating the origin and spread of spotted lanternfly (Lycorma delicatula) in Japan

Population Ecology, EarlyView.
The invasive spotted lanternfly (Lycorma delicatula) is native to China and is a serious economic pest in the Republic of Korea and the United States, though it is not considered a pest in Japan. We established a distribution map of L. delicatula in Japan through a comprehensive review of published literature and citizen science reports and analyzed ...
Matthew T. Kamiyama, Michihiko Takahashi, Hannah J. Broadley, Francesc Gómez‐Marco, Mark S. Hoddle, Kenji Matsuura   +5 more
wiley   +1 more source

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022
Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis.
Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van der Knaap, Nicole I. Wolf, Samuel Groeschel   +7 more
wiley   +1 more source

Comparison of kinship‐identification methods for robust stock assessment using close‐kin mark–recapture data for Pacific bluefin tuna

Population Ecology, EarlyView.
In this study, we compared three methods for kinship identification using different algorithms in samples of wild Pacific bluefin tuna and generated genotyping data. The three methods resulted in different numbers of inferred kinship pairs for both generated and actual data. Particularly for the half‐sibling pairs, considerable number of false‐positive
Yohei Tsukahara, Reiichiro Nakamichi, Aiko Matsuura, Tetsuya Akita, Atushi Fujiwara, Nobuaki Suzuki   +5 more
wiley   +1 more source

Assignment of SNP allelic configuration in polyploids using Competitive Allele-Specific PCR: application to triploid citrus progenies [PDF]

, 2015
Estimation of DNA allele doses in polyploid genotypes is essential to assign the allelic configuration for the different types of heterozygosity for parents and segregating progenies.
Aleza, Pablo, Cuenca, José, Navarro, Luis, Ollitrault, Patrick   +3 more
core  

Functional polymorphisms in the P2X7 receptor gene are associated with stress fracture injury [PDF]

, 2016
Context: Military recruits and elite athletes are susceptible to stress fracture injuries. Genetic predisposition has been postulated to have a role in their development.
A Gam, A Gartland, A Gartland, A Gartland, A Gartland, A Singer, A Wesselius, Alison Gartland, AM McBryde, AS Tenforde, C Chatzipapas, Craig Ranson, Craig Sale, Daniel S. Moran, David C. Hughes, DS Moran, E Friedman, Eitan Friedman, G Lambros, HZ Ke, I Varley, Ian Varley, J Korvala, J Li, James A. Gallagher, JH Tobias, JM Labasi, Julie P. Greeves, KL Bennell, KL Bennell, L Stokes, LB Husted, M Fredericson, M Gaeta, M Giladi, M Lorentzon, MB Schaffler, NR Jørgensen, Peter J. Wilson, R Yanovich, R Yanovich, Ran Yanovich, RM Gehrmann, SD Ohlendorff, SJ Warden, SJ Warden, ST Zwas, Trent Stellingwerff, W Gu, William D. Fraser, Y Benjamini   +50 more
core   +1 more source

Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model

FEBS Letters, EarlyView.
Hermansky‐Pudlak syndrome type 1 (HPS‐1) is a rare, autosomal recessive disorder with poorly understood renal involvement. Urinary extracellular vesicle (uEV) proteomics and a novel Hps1 mouse model reveal mitochondrial abnormalities and lipid accumulation in HPS‐1 kidney proximal tubule cells. Serum ApoA1 correlates with kidney function in our patient
Dawn M. Maynard, Bernadette R. Gochuico, Hadass Pri Chen, Christopher K. E. Bleck, Patricia M. Zerfas, Wendy J. Introne, William A. Gahl, May C. V. Malicdan   +7 more
wiley   +1 more source

Distinct dysregulated pathways in sporadic and Lynch syndrome‐associated colorectal cancer offer insights for targeted treatment

FEBS Letters, EarlyView.
This study explores the distinct molecular mechanisms underlying Lynch syndrome‐associated and sporadic colorectal cancer (CRC). By highlighting the therapeutic potential of targeting the PI3K‐Akt pathway in Lynch syndrome‐associated CRC and the Wnt pathway in sporadic CRC, the findings open avenues for personalised treatment strategies, aiming to ...
May J. Krause, Musalula Sinkala, Raj Ramesar   +2 more
wiley   +1 more source

Mainstreaming production and nutrient resilience of vegetable crops in megacities: pre-breeding for terrace cultivation

Frontiers in Plant Science, 2023
Modern megacities offer convenient lifestyles to their citizens. However, agriculture is becoming increasingly vulnerable, especially during unexpected public health emergencies such as pandemics.
Kun Ma, Yuan Yuan, Caochuang Fang
doaj   +1 more source

Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance. [PDF]

, 2017
With the continued emergence of risk loci from Genome-Wide Association studies and variants of uncertain significance identified from patient sequencing, better methods are required to translate these human genetic findings into improvements in public ...
Carvajal-Carmona, Luis G, Coggins, Nicole B, O'Geen, Henriette, Segal, David J, Stultz, Jacob   +4 more
core   +4 more sources