Results 121 to 130 of about 20,362 (288)

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

KRAS-targeted therapies in colorectal cancer: a systematic analysis of mutations, inhibitors, and clinical trials

npj Precision Oncology
KRAS mutations occur in over one-third of colorectal cancers (CRC), primarily affecting codons 12 and 13, and less frequently codons 61, 117, and 146. Rare mutations in other codons have been reported, but often lack clear functional significance.
Maria Navarro-Jiménez, Beatriz González, Nuria Mulet, Cinta Hierro, Sergio Alonso   +4 more
doaj   +1 more source

SeeResults: A Spreadsheet Application for the Analysis of CGE Model Results [PDF]

CGE models tend to produce large amounts of result data, and it can be difficult and timeconsuming to view, import, process and keep track of these. SeeResults is an Excel-based spreadsheet application that has been developed within the PROVIDE project ...
van Schoor, Melt, Punt, Cecilia, McDonald, Scott   +2 more
core   +1 more source

Comment on “Discriminatory Tariffs, Trade Diversion, and the Economic Impacts of Recent U.S. Trade Policy”

Asian Economic Policy Review, EarlyView.
Ayako Obashi
wiley   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

The role of spent coffee ground extracts as natural antioxidant supplements in the diet of Nile Tilapia (Oreochromis niloticus)

Czech Journal of Animal Science
This study evaluated the potential of spent coffee grounds extract (CGE) as an antioxidant supplement in the diet of Nile tilapia (Oreochromis niloticus). Four experimental diets with varying CGE levels were formulated: 0% (CGE0, control), 2% (CGE2), 4% (
Khamanitjaree Saripan, Urailuck Pongket, Suriya Udduang, Supalug Kattakdad   +3 more
doaj   +1 more source

Transportation Costs, Increasing Returns and Regional Growth: An Interregional CGE Analysis [PDF]

The purpose of this paper was threefold. First, we presented a flexible analytical framework, based on sound and consistent economic theory and data, in order to assess the likely state/sectoral/income effects of policy changes in Brazil.
Eduardo Haddad, Geoffrey Hewings
core  

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Income Distribution and Poverty in a CGE Framework: A Proposed Methodology [PDF]

The paper discusses methodologies addressing income distribution and poverty in a Computable General Equilibrium (CGE) model framework, by describing how to link CGE results with household survey data to analyze income distribution and poverty ...
Sothea OUM
core  

Comment on “Infrastructure, Connectivity, and Regional Development: Evidence From a Spatial CGE Model of the North–South Commuter Railway”

Asian Economic Policy Review, EarlyView.
Mizuki Kawabata
wiley   +1 more source