Results 181 to 190 of about 1,607,083 (320)

Maturity-Onset Diabetes of the Young Caused by a Balanced Translocation Where the 20q12 Break Point Results in Disruption Upstream of the Coding Region of Hepatocyte Nuclear Factor-4α (HNF4A) Gene [PDF]

, 2002
Anna L. Gloyn, Sian Ellard, Maggie Shepherd, R T Howell, Elizabeth M. Parry, Andrew Jefferson, Elaine R. Levy, Andrew T. Hattersley   +7 more
openalex   +1 more source

Meta‐analysis fails to show any correlation between protein abundance and ubiquitination changes

FEBS Open Bio, EarlyView.
We analyzed over 50 published proteomics datasets to explore the relationship between protein levels and ubiquitination changes across multiple experimental conditions and biological systems. Although ubiquitination is often associated with protein degradation, our analysis shows that changes in ubiquitination do not globally correlate with changes in ...
Nerea Osinalde, Unai Alduntzin, Gorka Prieto, Ugo Mayor   +3 more
wiley   +1 more source

Initial assessment of the spatial learning, reversal, and sequencing task capabilities of knock-in rats with humanizing mutations in the Aβ-coding region of App. [PDF]

PLoS One, 2022
Pham H, Yin T, D'Adamio L.
europepmc   +1 more source

A Note on the Rate Region of Exact-Repair Regenerating Codes [PDF]

, 2015
Chao Tian
openalex   +1 more source

Promiscuous stimulation of HSP70 ATPase activity by parasite‐derived J‐domains

FEBS Open Bio, EarlyView.
The malaria parasite Plasmodium falciparum exports three highly homologous yet functionally divergent J‐domain proteins into human erythrocytes. Here, we show that J‐domains isolated from all three proteins effectively stimulate the ATPase activity of both endogenous host and exported parasite HSP70 chaperones.
Julian Barth, Moritz Koch, Le‐Han Rössner, Johanna Eichhorn, Denys Pogoryelov, Matthias P. Mayer, Jude M. Przyborski   +6 more
wiley   +1 more source

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene. [PDF]

Cell Death Differ, 2021
Doffe F, Carbonnier V, Tissier M, Leroy B, Martins I, Mattsson JSM, Micke P, Pavlova S, Pospisilova S, Smardova J, Joerger AC, Wiman KG, Kroemer G, Soussi T.   +13 more
europepmc   +1 more source

Inhibition of coding region determinant binding protein sensitizes melanoma cells to chemotherapeutic agents

, 2011
Evisabel A. Craig, Vladimir S. Spiegelman   +1 more
openalex   +2 more sources

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

The Other Side of the Same Coin: Beyond the Coding Region in Amyotrophic Lateral Sclerosis. [PDF]

Pharmaceuticals (Basel)
Ruffo P, Perrone B, Perrone F, De Amicis F, Iuliano R, Bucci C, Messina A, Conforti FL.   +7 more
europepmc   +1 more source

The Altered Pattern of Amylose Accumulation in the Endosperm of Low-Amylose Barley Cultivars Is Attributable to a Single Mutant Allele of Granule-Bound Starch Synthase I with a Deletion in the 5′-Non-Coding Region [PDF]

, 2002
Nicola J. Patron, Alison M. Smith, Brendan Fahy, Christopher M. Hylton, Mike J. Naldrett, B. G. Rossnagel, Kay Denyer   +6 more
openalex   +1 more source