Results 131 to 140 of about 4,615,445 (390)

Disruption of SETD3‐mediated histidine‐73 methylation by the BWCFF‐associated β‐actin G74S mutation

FEBS Letters, EarlyView.
The β‐actin G74S mutation causes altered interaction of actin with SETD3, reducing histidine‐73 methylation efficiency and forming two distinct actin variants. The variable ratio of these variants across cell types and developmental stages contributes to tissue‐specific phenotypical changes. This imbalance may impair actin dynamics and mechanosensitive
Anja Marquardt, Marcus S. Münchhoff, Jacqueline Krohn, Philip M. Palarz, Manuel H. Taft, Johannes N. Greve, Nataliya Di Donato, Falk F. R. Buettner, Dietmar J. Manstein   +8 more
wiley   +1 more source

Genetic architecture of quantitative traits in beef cattle revealed by genome wide association studies of imputed whole genome sequence variants: II: carcass merit traits

BMC Genomics, 2020
Background Genome wide association studies (GWAS) were conducted on 7,853,211 imputed whole genome sequence variants in a population of 3354 to 3984 animals from multiple beef cattle breeds for five carcass merit traits including hot carcass weight (HCW),
Yining Wang, Feng Zhang, Robert Mukiibi, Liuhong Chen, Michael Vinsky, Graham Plastow, John Basarab, Paul Stothard, Changxi Li   +8 more
doaj   +1 more source

The impact of rare and low-frequency genetic variants in common disease

Genome Biology, 2017
Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for.
L. Bomba, Klaudia Walter, N. Soranzo
semanticscholar   +1 more source

Purification tags markedly affect self‐aggregation of CPEB3

FEBS Letters, EarlyView.
Although recombinant proteins are used to study protein aggregation in vitro, uncleaved tags can interfere with accurate interpretation. Our findings demonstrate that His₆‐GFP and His₁₂ tags significantly affect liquid droplet and amyloid fibril formation in the intrinsically disordered region (IDR) of mouse cytoplasmic polyadenylation element‐binding ...
Harunobu Saito, Yujin Lee, Motoharu Ueno, Naotaka Sekiyama, Masatomo So, Ayako Furukawa, Kenji Sugase   +6 more
wiley   +1 more source

Circulating histones as clinical biomarkers in critically ill conditions

FEBS Letters, EarlyView.
Circulating histones are emerging as promising biomarkers in critical illness due to their diagnostic, prognostic, and therapeutic potential. Detection methods such as ELISA and mass spectrometry provide reliable approaches for quantifying histone levels in plasma samples.
José Luis García‐Gimenez, Juan Carlos Ruiz‐Rodríguez, Ricard Ferrer, Raquel Durá, Antonio Artigas, Iván Bajaña, David Bolado López de Andujar, Irene Cánovas‐Cervera, Adrián Ceccato, Luis Chiscano‐Camón, Elena Climent‐Martinez, Georgia García Fernández, Gemma Goma, Verónica Monforte, Beatriz Quevedo‐Sánchez, Adolf Ruiz‐Sanmartín, Antonio Sierra‐Rivera, Nieves Carbonell Monleón   +17 more
wiley   +1 more source

CRY2 Genetic Variants Associate with Dysthymia

PLoS ONE, 2013
People with mood disorders often have disruptions in their circadian rhythms. Recent molecular genetics has linked circadian clock genes to mood disorders. Our objective was to study two core circadian clock genes, CRY1 and CRY2 as well as TTC1 that interacts with CRY2, in relation to depressive and anxiety disorders.
Kovanen, Leena, Kaunisto, Mari, Donner, Kati, Saarikoski, Sirkku T., Partonen, Timo   +4 more
openaire   +6 more sources

Insights into pegRNA design from editing of the cardiomyopathy‐associated phospholamban R14del mutation

FEBS Letters, EarlyView.
This study reveals how prime editing guide RNA (pegRNA) secondary structure and reverse transcriptase template length affect prime editing efficiency in correcting the phospholamban R14del cardiomyopathy‐associated mutation. Insights support the design of structurally optimized enhanced pegRNAs for precise gene therapy.
Bing Yao, Qiangbing Yang, Christian J.B. Snijders Blok, Mark A. Daniels, Pieter A. Doevendans, Raymond Schiffelers, Joost P.G. Sluijter, Zhiyong Lei   +7 more
wiley   +1 more source

Predicted genetic burden and frequency of phenotype-associated variants in the horse

Scientific Reports
Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants.
S. A. Durward-Akhurst, J. L. Marlowe, R. J. Schaefer, K. Springer, B. Grantham, W. K. Carey, R. R. Bellone, J. R. Mickelson, M. E. McCue   +8 more
doaj   +1 more source

Genetic Variants Associated with Acne Vulgaris

International Journal of General Medicine, 2023
Huan Zhang, Zhengzhong Zhang Department of Dermatology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan Province, People’s Republic of ChinaCorrespondence: Zhengzhong Zhang, Department of Dermatology, Affiliated Hospital of North ...
Zhang H, Zhang Z
doaj  

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis [PDF]

Endocrinology and Metabolism
Background Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene.
Boram Kim, Seung Hun Lee, Chang Ho Ahn, Han Na Jang, Sung Im Cho, Jee-Soo Lee, Yu-Mi Lee, Su-Jin Kim, Tae-Yon Sung, Kyu Eun Lee, Woochang Lee, Jung-Min Koh, Moon-Woo Seong, Jung Hee Kim   +13 more
doaj   +1 more source