Results 111 to 120 of about 1,882,183 (334)

Protein Expression, Characterization and Activity Comparisons of Wild Type and Mutant DUSP5 Proteins [PDF]

, 2014
Background The mitogen-activated protein kinases (MAPKs) pathway is critical for cellular signaling, and proteins such as phosphatases that regulate this pathway are important for normal tissue development.
Gastonguay, Adam J., Jensen, David R., Kalous, Kelsey S, Kutty, Raman G., Nayak, Jaladhi, Pokkuluri, Phani Raj, Ramchandran, Ramani, Rathore, Rajendra, Sem, Daniel S., Span, Elise A., Talipov, Marat R., Vakeel, Padmanabhan   +11 more
core   +2 more sources

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

Journal of Experimental Medicine, 2018
Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal lymphatic malformations (LMs). The etiology of GLA is poorly understood.
L. Rodríguez-Laguna, Noelia Agra, K. Ibáñez, Gloria Oliva-Molina, G. Gordo, Noor Khurana, Devon Hominick, M. Beato, I. Colmenero, Gonzalo Herranz, Juan M Torres Canizalez, Rebeca Rodríguez Pena, E. Vallespín, R. Martín-Arenas, Ángela del Pozo, C. Villaverde, A. Bustamante, C. Ayuso, P. Lapunzina, J. López-Gutiérrez, M. Dellinger, V. Martínez-Glez   +21 more
semanticscholar   +1 more source

Aetiology of sudden cardiac death in sport: a histopathologist's perspective. [PDF]

, 2012
In the UK, when a young person dies suddenly, the coroner is responsible for establishing the cause of death. They will ask a consultant pathologist to carry out an autopsy in order to ascertain when, where and how that person died.
Sheppard, MN
core   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Aberrant Right Subclavian Artery With a Bicarotid Trunk: A Rare Cause of Stridor in Infants

Clinical Case Reports
The aberrant right subclavian artery represents a rare vascular anomaly that must be considered in the differential diagnosis of infants experiencing respiratory distress and feeding difficulties.
Mohammad Alashqar, Israa Salman, Shahd Saadeh, Seba Lubbadeh, Osayd Khasati   +4 more
doaj   +1 more source

Computed Tomographic Hepatic Volumetry in Dogs with Congenital Portosystemic Shunts

Veterinary Sciences
CTHV is a non-invasive and accurate method for assessing liver volume in dogs. CTHV has not been studied in each type of extrahepatic PSS in dogs. This study aimed to use CTHV to compare liver volumes in dogs with different types of PSSs that had been ...
Hitomi Kurihara, George Moore, Masahiro Murakami   +2 more
doaj   +1 more source

A Potentially Catastrophic Anatomical Variation: Aberrant Internal Carotid Artery in the Middle Ear Cavity

Case Reports in Otolaryngology, 2013
Aberrant internal carotid artery (ICA) is a rare but a very important vascular anomaly of temporal bone. Misdiagnosis of the anomaly may lead to massive hemorrhage and severe complications during otologic procedures.
Togay Muderris, Sami Bercin, Ergun Sevil, Huseyin Cetin, Muzaffer Kiris   +4 more
doaj   +1 more source