Results 61 to 70 of about 8,739 (269)

YlmG1 is localized exclusively to the chloroplast envelope membrane and is involved in preprotein translocation in Arabidopsis thaliana

FEBS Open Bio, EarlyView.
Cytosolically synthesized chloroplast preproteins are translocated across the outer and inner envelope membranes through translocons called TOC and TIC, respectively. In green algae and plants, the TIC core is composed of essential membrane proteins, Tic12, Tic20, and Tic214.
Mengyi Li, Xueyang Zhao, Masato Nakai
wiley   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Karyogram of runs of homozygosity (ROH) shared among individuals considering classes according number of animals. [PDF]

, 2019
Karyogram of runs of homozygosity (ROH) shared among individuals considering classes according number of animals.
Mônica Correa Ledur (6411758), Tatiane Cristina Seleguim Chud (3737704), Mauricio Egidio Cantão (6411752), Marcos Eli Buzanskas (3737701), Jane Oliveira Peixoto (6411755), Jorge Augusto Petroli Marchesi (6411749), Letícia Borges Joaquim (6411746), Danísio Prado Munari (790340), Ricardo Zanella (179792), Renato Irgang (4747881), Rodrigo Pelicioni Savegnago (790334)   +10 more
core   +1 more source

A high-density SNP array tailored for selectively bred Arctic charr (Salvelinus alpinus)

Aquaculture Reports
SNP arrays are indispensable tools for integrating genomic information into breeding programs. A SNP array for Nordic Arctic charr (Salvelinus alpinus) containing approximately 600,000 SNPs was developed from variants detected in Swedish, Norwegian and ...
Christos Palaiokostas, Martin Johnsson
doaj   +1 more source

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.

PLoS Genetics, 2009
This research investigates the influence of demographic factors on human genetic sub-structure. In our discovery cohort, we show significant demographic trends for decreasing autozygosity associated with population variation in chronological age ...
Michael A Nalls, Javier Simon-Sanchez, J Raphael Gibbs, Coro Paisan-Ruiz, Jose Tomas Bras, Toshiko Tanaka, Mar Matarin, Sonja Scholz, Charles Weitz, Tamara B Harris, Luigi Ferrucci, John Hardy, Andrew B Singleton   +12 more
doaj   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Autozygosity frequency distribution of runs of homozygosity (ROH) in Chinese and Western pig populations. [PDF]

, 2013
Autozygosity frequency distribution of runs of homozygosity (ROH) in Chinese and Western pig populations.
Huashui Ai (136679), Jun Ren (110002), Lusheng Huang (110011)   +2 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Proportion of the genome, runs of homozygosity inbreeding coefficient in Bullmastiff dogs. [PDF]

, 2016
Proportion of the genome, runs of homozygosity inbreeding coefficient in Bullmastiff dogs.
Sally-Anne Mortlock (710375), Mehar S. Khatkar (123578), Peter Williamson (710377)   +2 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source