Results 191 to 200 of about 487,536 (292)

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Cryo-EM structure of ribosome from pathogenic protozoa Entamoeba histolytica reveals unique features of its architecture. [PDF]

Nat Commun
Sharma S, Mishra S, Gourinath S, Kaushal PS.   +3 more
europepmc   +1 more source

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde, Maria E. Hernandez Gonzalez, Anthony R. Miller, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +9 more
wiley   +1 more source

P450 Enzyme LyoI Performs Hydro‐2,2′‐Bifuran Oxidation in the Polyether Ionophore Lysocellin

Angewandte Chemie, EarlyView.
In a study of the biosynthesis of the polyether ionophore lysocellin, the P450 enzyme LyoI was found to catalyze a rare oxidation of a hydro‐2,2′‐bifuran moiety to its hemiketal form. The oxidation was identified as the key for unlocking the bioactivity of lysocellin.
Michelle H. Rasmussen, Søren L. B. Møller, Esben B. Svenningsen, Thomas Tørring, Thomas B. Poulsen   +4 more
wiley   +2 more sources

Evolutionary origin of the frameshift sites in the ribosomal frameshifting genes of Euplotes. [PDF]

BMC Genomics
Wang RL, Liu XY, Meng QY, Zhang X, Fu YJ, Liang AH.   +5 more
europepmc   +1 more source

Long noncoding RNA GCH1 mediates mitophagy via the PTEN‐induced kinase 1/Parkin pathway to drive chondrocyte dysfunction and cartilage degeneration in osteoarthritis

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract illustrates the role of lncRNA‐GCH1 in regulating mitophagy and its downstream effects on chondrocyte dysfunction and cartilage degradation in osteoarthritis (OA). Elevated lncRNA‐GCH1 stabilizes PINK1 protein, enhancing mitophagy and mitochondrial turnover.
Gang Zeng, Yujun Sun, Taihe Liu, Wenzhou Liu, Yanbo Chen, Jionglin Wu, Jiayuan Zheng, Weidong Song, Yue Ding   +8 more
wiley   +1 more source

Cyclochlorotine Hydroxylase CctR Reveals DUF3328 as a Family of Copper‐Dependent Metalloenzymes

Angewandte Chemie, EarlyView.
DUF3328 is an enigmatic enzyme family implicated in diverse transformations in fungal natural product biosynthesis, yet its functions remain largely underexplored. Through biochemical characterization of the cyclochlorotine hydroxylase CctR, we define DUF3328 as a family of copper‐dependent metalloenzymes.
Wentao Huang, Jakob K. Reinhardt, Anru Tian, Xiao Zhang, Binghui Li, Noah Gould, Sashirekha Nallapati, Alexander R. Ivanov, Yi Wang, Jason J. Guo, David E. Budil, Jing‐Ke Weng   +11 more
wiley   +2 more sources

Mechanisms of ribosomopathy and phase separation-related ribosomopathy. [PDF]

J Zhejiang Univ Sci B
Pan Z, Lin G, Liu H, Li G, Zhang X, Dai J.   +5 more
europepmc   +1 more source

Processing ribosomal RNA [PDF]

Genome Biology, 2002
openaire   +2 more sources

The FindMNDBiomarker Program: Protein Changes in Motor Neuron Disease/Amyotrophic Lateral Sclerosis Postmortem Tissue and Biofluids

Annals of Neurology, EarlyView.
Objective Biomarkers of disease pathogenesis are critically needed for amyotrophic lateral sclerosis (ALS) to facilitate diagnosis and patient stratification into appropriate therapeutic trials. Proteomic studies offer significant potential to advance this, but reproducibility across laboratories is a key component toward identifying protein changes ...
Gabrielle L. Adler, Matthew C. Kiernan, Rachel H. Tan   +2 more
wiley   +1 more source