Results 161 to 170 of about 50,129 (215)

Methanogenic archaea encoding Pyrrolysine maintain ambiguous amber codon usage. [PDF]

Proc Natl Acad Sci U S A
Shalvarjian KE, Chadwick GL, Pérez PI, Woods PH, Orphan VJ, Nayak DD.   +5 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Availability of Charged tRNAs Drives Maximal Protein Synthesis at Intermediate Levels of Codon Usage Bias. [PDF]

Bull Math Biol
Hill AM, To K, Wilke CO.
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

GGAR: gradient guided adaptive regularization enhances deep learning classification of brassica species using codon usage bias. [PDF]

BMC Bioinformatics
Shahzad A, Akram S, Mehmood T.
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Evolutionary Dynamics of Chloroplast Genome and Codon Usage in the Genus <i>Diospyros</i> (Ebenaceae). [PDF]

Biology (Basel)
Zhang J, Li Z.
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Environmental Identification of Novel Enzymes for Polyurethane and Polyamide Degradation

Angewandte Chemie, EarlyView.
Heteroatom‐containing plastics such as polyurethanes and nylons are produced at scale yet remain largely unrecycled. Biocatalysts offer a promising route to depolymerization under mild conditions. Here, we present a screening platform for the discovery of novel polyurethane‐ and nylon‐degrading enzymes from environmental samples and demonstrate ...
Malthe Kjær Bendtsen, Andreas Møllebjerg, Samuel Peña‐Díaz, Rosie Graham, Nicolai Claus Petersen, Bjørk Nolsøe Isaksen, Mathias Carstensen, Martin B. Johansen, Andreas Sommerfeldt, Allan R. Petersen, Iddi Khamisi Chuma, Cecilie Ryberg, Thomas Rea Wittenborn, Virginia Gichuru, Huabing Wang, Carsten Scavenius, Alexander Sandahl, Daniel E. Otzen   +17 more
wiley   +2 more sources

Comprehensive analysis of chloroplast genome evolution in Poaceae: codon usage patterns, selection pressures, and phylogenomic relationships. [PDF]

BMC Genomics
Geng X, Xue Y, Wang H, Tu H, Jing R, Li Z, Gai Y.   +6 more
europepmc   +1 more source