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Articles 1 - 4 of 4
Full-Text Articles in Medical Sciences
Investigating Gene-Environment Interaction In A Double-Hit Model For Autism Spectrum Disorder, Melvin Maroon
Investigating Gene-Environment Interaction In A Double-Hit Model For Autism Spectrum Disorder, Melvin Maroon
Undergraduate Student Research Internships Conference
With the exponential advancements seen in the field of sequencing technology, the science community has come to identify hundreds of potential genetic risk factors for neuropsychiatric disorders. Despite our knowledge that such risk factors exist, we have yet to understand their specific influences on the behavioral profile of an individual. In addition, maternal infection during pregnancy can have longstanding detrimental outcomes on a child’s development. This is especially impactful with the present threat of viral infection during the pandemic. Our study aims to understand the influence of a specific genetic and environmental factor on a preclinical rodent model’s behavioral development. …
The Current State Of Prenatal Detection Of Genetic Conditions In Congenital Heart Defects, Tina O Findley, Hope Northrup
The Current State Of Prenatal Detection Of Genetic Conditions In Congenital Heart Defects, Tina O Findley, Hope Northrup
Student and Faculty Publications
The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique. Fetal findings on ultrasound in addition to maternal biomarkers are the backbone of first- and second-trimester screening for common genetic conditions, namely aneuploidy. Since the introduction of non-invasive prenatal testing (NIPT) using next-generation sequencing to sequence cell-free fetal DNA, the detection rate of common trisomies as well as sex chromosomal aneuploidies have markedly increased. As the use of NIPT continues to broaden, the best means of incorporating …
Living With It: A Patient’S And A Biochemist’S Perspective On Kidney Disease; A Historical Review Of Alport Syndrome, Jacob Olson
Living With It: A Patient’S And A Biochemist’S Perspective On Kidney Disease; A Historical Review Of Alport Syndrome, Jacob Olson
WWU Honors College Senior Projects
A review paper on the origin of health studies around Alport Syndrome, including aspects of genetics, pharmacy, and biochemistry, from the past to today and beyond. This report deals with important aspects of health development with regards to kidney disease overall, but narrows its focus on Alport Syndrome specifically due to the personal nature of the topic for the author. While this paper includes no personal testimony, as it is strictly meant to be formal, the author shares a deep connection with the material.
Autoimmunity In Psoriatic Arthritis: Pathophysiological And Clinical Aspects, Hakan Emmungi̇l, Ufuk İlgen, Rafi̇ Haner Di̇reskeneli̇
Autoimmunity In Psoriatic Arthritis: Pathophysiological And Clinical Aspects, Hakan Emmungi̇l, Ufuk İlgen, Rafi̇ Haner Di̇reskeneli̇
Turkish Journal of Medical Sciences
Psoriatic arthritis (PsA) is an underdiagnosed entity with a broad impact on the quality of life. Although the pathogenesis is largely unknown, autoimmune footprints of the inflammation in PsA have increasingly been recognized. Most of the genetic variation predisposing to PsA is mapped to the class I major histocompatibility complex (MHC) region and shared by a variety of autoimmune diseases. Polymorphisms in the genes IL12B, IL23R, IL13, TNIP1, TRAF3IP2, TYK2, and many others explain the nonHLA genetic risk with little known functional consequences. Entheseal and synovial cellular infiltrate with oligoclonal CD8+ T cells and occasional germinal centers, loss of regulatory …