Results 231 to 240 of about 551,943 (360)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Translation‐Promoting Effects of RNA Template Overhangs in the Absence of Ribosomes

Angewandte Chemie, EarlyView.
Ribosome‐free translation of an RNA sequence into a peptide sequence can be controlled by the folding of the template strand. Overhang sequences forming a triplex structure with the templating region and the peptidoyl RNA in pH‐dependent manner increase yields up to 40‐fold through entropic effects and mixed anhydride formation, allowing for controlled,
Nikolaos Giannakopoulos, Martin Rentschler, Clemens Richert   +2 more
wiley   +2 more sources

A General Substitution Matrix for Structural Phylogenetics. [PDF]

Mol Biol Evol
Garg SG, Hochberg GKA.
europepmc   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Inactivation of the Burkholderia Toxin Malleicyprol by Enzymatic Cyclopropanol Ring Opening

Angewandte Chemie, EarlyView.
Burkholderia pseudomallei and Burkholderia mallei are dangerous pathogens that cause severe diseases with high mortality rates. Their virulence relies in part on malleicyprols, potent toxins containing a highly reactive cyclopropanol group. In this study, we identify BurK, a heme‐dependent oxidoreductase that neutralizes malleicyprols by enzymatically ...
Jonas Fiedler, Ingrid Richter, Katharina Dornblut, Alicia Scharf, Christian Hertweck   +4 more
wiley   +2 more sources

Spatial Phylogenetics Reveals Endemism Hotspots and Conservation Priorities in Chinese Asteraceae. [PDF]

Ecol Evol
Zheng X, Chen X, Qu T, Zhang Y, Shao Y, Zhang B, Fu Z, Zhang X.   +7 more
europepmc   +1 more source

Molecular Phylogenetic Analysis of New Zealand Mosquito Species

, 2021
Rachel P. Cane, Dongmei Li, Erin Turbitt, Geoffrey K. Chambers   +3 more
openalex   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Tree Height and the Asymptotic Mean of the Colijn-Plazzotta Rank of Unlabeled Binary Rooted Trees. [PDF]

Bull Math Biol
Devroye L, Doboli MR, Rosenberg NA, Wagner S.   +3 more
europepmc   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source