Formal commentary

English version

Autoři: Gustavo D. Aguirre ^aff001; Hannes Lohi ^aff002; Maria Kaukonen ^aff002; Leonardo Murgiano ^aff001
Působiště autorů: School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America ^aff001; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland ^aff002
Vyšlo v časopise: Formal commentary. PLoS Genet 16(11): e32767. doi:10.1371/journal.pgen.1009059
Kategorie: Formal Comment
doi: https://doi.org/10.1371/journal.pgen.1009059

Zdroje

1. Murgiano L, Becker D, Torjman D, Niggel JK, Milano A, et al. Complex structural PPT1 variant associated with non-syndromic canine retinal degeneration. G3. 2019;9. doi: 10.1534/g3.118.200859 30541930

2. Kaukonen M, Quintero IB, Mukarram AK, Hytönen MK, Holopainen S, et al. A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLOS Genetics. 2020; 16(3):e1008659. doi: 10.1371/journal.pgen.1008659 32150541

Článek A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse

Článek Inferring causal direction between two traits in the presence of horizontal pleiotropy with GWAS summary data

Článek In vivo miRNA knockout screening identifies miR-190b as a novel tumor suppressor

Článek Suppression of retinal degeneration by two novel ERAD ubiquitin E3 ligases SORDD1/2 in Drosophila

Článek Dual genome-wide CRISPR knockout and CRISPR activation screens identify mechanisms that regulate the resistance to multiple ATR inhibitors

Článek Genetic engineering of sex chromosomes for batch cultivation of non-transgenic, sex-sorted males

Článek Differential transcript usage in the Parkinson’s disease brain

Článek The prefoldin complex stabilizes the von Hippel-Lindau protein against aggregation and degradation

Článek Cyclin B3 activates the Anaphase-Promoting Complex/Cyclosome in meiosis and mitosis

Článek Opposing functions of Fng1 and the Rpd3 HDAC complex in H4 acetylation in Fusarium graminearum

Článek Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation

Článek Gtsf1 is essential for proper female sex determination and transposon silencing in the silkworm, Bombyx mori

Článek TOR Complex 2- independent mutations in the regulatory PIF pocket of Gad8AKT1/SGK1 define separate branches of the stress response mechanisms in fission yeast

Článek NIGT1 family proteins exhibit dual mode DNA recognition to regulate nutrient response-associated genes in Arabidopsis

Článek Oxidative stress antagonizes fluoroquinolone drug sensitivity via the SoxR-SUF Fe-S cluster homeostatic axis

Článek A spectrum of verticality across genes

Článek A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

Článek Mms19 promotes spindle microtubule assembly in Drosophila neural stem cells

Článek Mosquito genomes are frequently invaded by transposable elements through horizontal transfer

Článek Genotype imputation using the Positional Burrows Wheeler Transform

Článek The DNA damage response is required for oocyte cyst breakdown and follicle formation in mice

Článek Loss of hepatocyte cell division leads to liver inflammation and fibrosis

Článek Genetic compensation prevents myopathy and heart failure in an in vivo model of Bag3 deficiency

Článek A genetic variant controls interferon-β gene expression in human myeloid cells by preventing C/EBP-β binding on a conserved enhancer

Článek Identity-by-descent with uncertainty characterises connectivity of Plasmodium falciparum populations on the Colombian-Pacific coast

Článek A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

Článek Unique genetic signatures of local adaptation over space and time for diapause, an ecologically relevant complex trait, in Drosophila melanogaster

Článek A pair of ascending neurons in the subesophageal zone mediates aversive sensory inputs-evoked backward locomotion in Drosophila larvae

Článek A frog with three sex chromosomes that co-mingle together in nature: Xenopus tropicalis has a degenerate W and a Y that evolved from a Z chromosome

Článek Mutations in PIH proteins MOT48, TWI1 and PF13 define common and unique steps for preassembly of each, different ciliary dynein

Článek The Bric-à-Brac BTB/POZ transcription factors are necessary in niche cells for germline stem cells establishment and homeostasis through control of BMP/DPP signaling in the Drosophila melanogaster ovary

Článek A novel role for kynurenine 3-monooxygenase in mitochondrial dynamics

Článek No association between SCN9A and monogenic human epilepsy disorders

Článek Genome-wide association study identifies 16 genomic regions associated with circulating cytokines at birth

Článek Runx2 is essential for the transdifferentiation of chondrocytes into osteoblasts

Článek Stability of SARS-CoV-2 phylogenies

Článek A C. elegans Zona Pellucida domain protein functions via its ZPc domain

Článek Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

Článek Innate immune signaling in Drosophila shifts anabolic lipid metabolism from triglyceride storage to phospholipid synthesis to support immune function

Článek A context-dependent bifurcation in the Pointed transcriptional effector network contributes specificity and robustness to retinal cell fate acquisition

Článek Phenomic screen identifies a role for the yeast lysine acetyltransferase NuA4 in the control of Bcy1 subcellular localization, glycogen biosynthesis, and mitochondrial morphology

Článek vyšel v časopise

PLOS Genetics

2020 Číslo 11

Nejčtenější tento týden

Nejčtenější v tomto čísle

Kurzy

Zvyšte si kvalifikaci online z pohodlí domova

Svět praktické medicíny 3/2025 (znalostní test z časopisu)

nový kurz

Mepolizumab v reálné klinické praxi

Autoři: MUDr. Eva Voláková, Ph.D.

BONE ACADEMY 2025

Autoři: prof. MUDr. Pavel Horák, CSc., doc. MUDr. Ludmila Brunerová, Ph.D., doc. MUDr. Václav Vyskočil, Ph.D., prim. MUDr. Richard Pikner, Ph.D., MUDr. Olga Růžičková, MUDr. Jan Rosa, prof. MUDr. Vladimír Palička, CSc., Dr.h.c.

Cesta pacienta nejen s SMA do nervosvalového centra

Autoři: MUDr. Jana Junkerová, MUDr. Lenka Juříková

Eozinofilní zánět a remodelace

Autoři: MUDr. Lucie Heribanová

Všechny kurzy