Results 21 to 30 of about 900,190 (260)

Challenges of drug resistance in the management of pancreatic cancer [PDF]

open access: yes, 2010
The current treatment of choice for metastatic pancreatic cancer involves single agent gemcitabine or combination of gemcitabine with capecitabine and erlotinib (tyrosine kinase inhibitor).
Akada   +119 more
core   +1 more source

Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene

open access: yesCase Reports in Pediatrics, 2020
We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen ...
Hamza Hassan Khan   +5 more
doaj   +1 more source

Trypanosoma brucei methylthioadenosine phosphorylase protects the parasite from the antitrypanosomal effect of deoxyadenosine [PDF]

open access: yes, 2016
Trypanosoma brucei causes African sleeping sickness for which no vaccine exists and available treatments are of limited use due to their high toxicity or lack of efficacy. T.
de Koning, Harry P.   +4 more
core   +1 more source

KIAA1199 interacts with glycogen phosphorylase kinase β-subunit (PHKB) to promote glycogen breakdown and cancer cell survival

open access: yesOncoTarget, 2014
The KIAA1199 gene was first discovered to be associated with non-syndromic hearing loss. Recently, several reports have shown that the up-regulation of KIAA1199 is associated with cancer cell migration or invasion and a poor prognosis.
M. Terashima   +6 more
semanticscholar   +1 more source

Preliminary Study: Proteomic Profiling Uncovers Potential Proteins for Biomonitoring Equine Melanocytic Neoplasm

open access: yesAnimals, 2021
Equine melanocytic neoplasm (EMN) is a cutaneous neoplasm and is mostly observed in aged grey horses. This preliminary study aimed to identify potential proteins to differentiate normal, mild and severe EMN from serum proteomic profiling.
Parichart Tesena   +6 more
doaj   +1 more source

X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males

open access: yesPediatrics and Neonatology, 2009
X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase
Szu-Ta Chen   +6 more
doaj   +1 more source

Is acetylation a metabolic rheostat that regulates skeletal muscle insulin action? [PDF]

open access: yes, 2015
Skeletal muscle insulin resistance, which increases the risk for developing various metabolic diseases, including type 2 diabetes, is a common metabolic disorder in obesity and aging.
LaBarge, Samuel   +2 more
core   +2 more sources

Protein Kinase Inhibitor Peptide as a Tool to Specifically Inhibit Protein Kinase A

open access: yesFrontiers in Physiology, 2020
The protein kinase enzyme family plays a pivotal role in almost every aspect of cellular function, including cellular metabolism, division, proliferation, transcription, movement, and survival.
Chong Liu   +4 more
doaj   +1 more source

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants

open access: yesBMC Pediatrics, 2022
Background Pathogenic mutations in the PHKG2 are associated with a very rare disease—glycogen storage disease IXc (GSD-IXc)—and are characterized by severe liver disease.
Yongxian Shao   +7 more
doaj   +1 more source

Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2

open access: yesMolecular Genetics and Metabolism Reports, 2021
The phenotype of individuals with glycogen storage disease (GSD) IX appears to be highly variable, even within subtypes. Features include short stature, fasting hypoglycemia with ketosis, hepatomegaly, and transaminitis.
J. Andres Morales   +5 more
doaj   +1 more source

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