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Interleukin 1 receptor associated kinase 1 gene polymorphism association with risk of rheumatological diseases in Egyptian population.
Mol Biol Rep
January 2025
Pediatric Rheumatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Background: Interleukin-1 receptor-associated kinase1 (IRAK1) plays a considerable role in the inflammatory signaling pathway. The current study aimed to identify any association between (rs1059703) single nucleotide polymorphism (SNP) and vulnerability to rheumatological diseases in the pediatric and adult Egyptian population.
Patients And Methods: The current study included four patient groups: adult Systemic lupus erythematosus (SLE), Rheumatoid arthritis (RA), juvenile systemic lupus erythematosus (JSLE), and juvenile idiopathic arthritis (JIA).
Range-wide understanding of genetic diversity and population structure of endangered Kashmir musk deer in North-Western Himalaya.
Mol Biol Rep
January 2025
Zoological Survey of India, Kolkata, 700053, India.
Background: The endangered Kashmir musk deer (Moschus cupreus), native to high-altitude Himalayas, is an ecological significant and endangered ungulate, threatened by habitat loss and poaching for musk pod distributed in western Himalayan ranges of India, Nepal and Afghanistan. Despite its critical conservation status and ecological importance in regulating vegetation dynamics, knowledge gaps persist regarding its population structure and genetic diversity, hindering effective management strategies.
Methods And Results: We aimed to understand the population genetics of Kashmir musk deer in north-western Himalayas using two mitochondrial DNA (mtDNA) regions and 11 microsatellite loci.
Nanoscale Viscometry Reveals an Inherent Mucus Defect in Cystic Fibrosis.
ACS Nano
January 2025
Centre de recherche du Centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, Québec H2X 0A9, Canada.
The abnormally viscous and thick mucus is a hallmark of cystic fibrosis (CF). How the mutated CF gene causes abnormal mucus remains an unanswered question of paramount interest. Mucus is produced by the hydration of gel-forming mucin macromolecules that are stored in intracellular granules prior to release.
View Article and Find Full Text PDFDifferences and contributors to global cognitive performance in the underrepresented Latinx Parkinson's disease population.
Clin Neuropsychol
January 2025
Center for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.
Despite significant progress in understanding the factors influencing cognitive function in Parkinson's disease (PD), there is a notable gap in data representation for the Latinx population. This study aims to evaluate the contributors to and disparities in cognitive performance among Latinx patients with PD. A retrospective analysis was conducted based on cross-sectional data encompassing demographic, environmental, motor, and non-motor disease characteristics from the Latin American Research Consortium on the Genetics of PD (LARGE-PD) and the Parkinson's Progression Markers Initiative (PPMI) cohorts.
View Article and Find Full Text PDF[Growth and development patterns of Noonan syndrome and advances in the treatment of short stature].
Zhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Endocrinology, Metabolism and Genetics, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Patients with Noonan syndrome (NS) are born with normal or slightly lower body length and weight compared to the normal ranges. However, their height gradually falls behind that of the general population, leading to growth retardation and delayed puberty. In China, the incidence of short stature in patients with NS is approximately 65%.
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