Results 261 to 270 of about 616,369 (340)

Predicting gene sequences with AI to study codon usage patterns [PDF]

Tomer Sidi, Shir Bahiri-Elitzur, Tamir Tuller, Rachel Kolodny   +3 more
openalex   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Native CFTR codon bias controls translation rate to balance off-pathway aggregation and channel function by conformational imprinting. [PDF]

Sci Rep
Yoon JS, Li H, Kim Y, Shishido H, Sheppard DN, Lee MG, Skach WR.   +6 more
europepmc   +1 more source

Supplementary material for "Evolutionary dynamics of abundant stop codon readthrough"

, 2017
Irwin Jungreis, Gabriel Fields, Michael F. Lin, Clara S. Chan, Robert M. Waterhouse, Manolis Kellis   +5 more
openalex   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Sampling informational properties of codon usage through the tree of life. [PDF]

PLoS One
Martínez O, Reyes-Valdés MH, Ochoa-Alejo N.   +2 more
europepmc   +1 more source

Insights into organelle forming RNAs: Diversity, functions and future perspectives

Animal Models and Experimental Medicine, EarlyView.
RNA molecules play crucial roles in the formation and maintenance of cellular structures and organelles. These ‘organelle formation RNAs’ include ribosomal RNAs, paraspeckle‐forming RNAs, nuclear speckle‐forming RNAs, nucleolus‐forming RNAs, and cytoskeleton‐forming RNA.
Meng Gong, Xiangting Wang, Xiaolin Liang
wiley   +1 more source

Transfer learning with pre-trained language models for protein expression level prediction in <i>Escherichia coli</i>. [PDF]

Synth Syst Biotechnol
Yang C, Zhao Y, Wang R, Li H, Liao X, Ma H.   +5 more
europepmc   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

An Expanded Toolbox for Versatile Chemical Editing of Adeno‐Associated Virus

Angewandte Chemie, EarlyView.
We describe technology to introduce diverse non‐natural chemical functionalities site‐specifically into the capsid of adeno‐associated virus through genetic code expansion, and using them to engineer this leading vector for human gene therapy for enhanced tissue specificity and reduced immunogenicity Abstract Site‐specific incorporation of noncanonical
Quan Pham, Jake Glicksman, Boyang Han, David Koo, Conor Loynd, Soumya Jyoti Singha Roy, Abhishek Chatterjee   +6 more
wiley   +2 more sources