Results 61 to 70 of about 420,509 (269)

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Genetic Alterations in Gastric Cancer Associated with Helicobacter pylori Infection

Frontiers in Medicine, 2017
Gastric cancer is a world health problem and depicts the fourth leading mortality cause from malignancy in Mexico. Causation of gastric cancer is not only due to the combined effects of environmental factors and genetic variants. Recent molecular studies
Gonzalo Castillo-Rojas, Claudia I. Rivas-Ortiz, Yolanda Lopez-Vidal, Luis Jose Rene Arredondo-Hernandez   +3 more
doaj   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Increased interleukin-9 and Th9 cells in patients with refractory Graves’ disease and interleukin-9 polymorphisms are associated with autoimmune thyroid diseases

Frontiers in Immunology
IntroductionAutoimmune thyroid diseases (AITDs) are prevalent disorders, primarily encompassing Graves’ disease (GD) and Hashimoto’s thyroiditis (HT). Despite their common occurrence, the etiology of AITDs remains elusive.
Qiuming Yao, Zhenyu Song, Bin Wang, Peng Du, Qiu Qin, Jing Zhao, Jin-an Zhang   +6 more
doaj   +1 more source

Sporadic Creutzfeldt-Jakob disease: Clinical, pathological and molecular study [PDF]

Revista Ciencias de la Salud, 2008
phalopathiesare neurodegenerative diseasescaused by abnormal accumulation of pathogenicisoform the prion protein, which induces theformation of conglomerates protein resistantto degradation.
Victoria Eugenia Villegas, Fernando Velandia, Cesar Payán   +2 more
doaj  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Population structure and diversity of the pathogenic fungus Aspergillus fumigatus isolated from different sources and geographic origins

Memorias do Instituto Oswaldo Cruz, 2009
Fifty-five clinical and environmental Aspergillus fumigatus isolates from Mexico, Argentina, France and Peru were analyzed to determine their genetic variability, reproductive system and level of differentiation using amplified fragment length ...
Esperanza Duarte-Escalante, Gerardo Zúñiga, Oscar Nava Ramírez, Susana Córdoba, Nicolás Refojo, Roberto Arenas, Laurence Delhaes, María del Rocío Reyes-Montes   +7 more
doaj   +1 more source

POLYMORPHISM AND POLYMORPH CHARACTERISATION IN PHARMACEUTICALS

Journal of Biomedical and Pharmaceutical Research, 2019
Polymorphism is the ability of a specific chemical compound to crystallize in more than one crystalline form. Polymorphs had a different arrangement of the molecule in the given crystal lattice and  may properties such as packing properties, thermodynamic properties, spectroscopic properties, kinetic properties, surface properties and mechanical ...
Dr Amit Gosar, Dr Sayyed Hussain, Dr Tabrez Shaikh   +2 more
openaire   +2 more sources

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

The polymorphism of phenobarbitone

Journal of Pharmacy and Pharmacology, 1968
AbstractThe polymorphism of phenobarbitone has been investigated using infrared spectroscopy, X-ray diffraction and differential scanning calorimetry. Eight crystalline modifications have been isolated and shown to have distinguishable infrared absorption spectra and X-ray powder diffraction patterns.
R J, Mesley, R L, Clements, B, Flaherty, K, Goodhead   +3 more
openaire   +2 more sources