Results 71 to 80 of about 372,458 (325)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Infectious diseases and autoimmunity [PDF]

, 2011
Introduction: Autoimmunity occurs when the immune system recognizes and attacks host tissue. In addition to genetic factors, environmental triggers (in particular viruses, bacteria and other infectious pathogens) are thought to play a major role in the ...
Deidda, Silvia, Delitala, Giuseppe, Delogu, Lucia Gemma, Manetti, Roberto   +3 more
core   +1 more source

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

Genetic Covariance Structure of Reading, Intelligence and Memory in Children [PDF]

, 2009
This study investigates the genetic relationship among reading performance, IQ, verbal and visuospatial working memory (WM) and short-term memory (STM) in a sample of 112, 9-year-old twin pairs and their older siblings.
A Baddeley, A Baddeley, A Baddeley, A Baddeley, A Brooks, A Gevins, A Zumberge, AC Kercher, AJ Marlow, B Byrne, BF Pennington, Cito, D Boomsma, D Evans, D Wechsler, DI Boomsma, DI Boomsma, Dorret I. Boomsma, DVM Bishop, Hilleke E. Hulshoff Pol, HL Swanson, HL Swanson, HL Swanson, HL Swanson, J Gayán, JF Démonet, Jiska S. Peper, JJ Hottenga, JM Jansma, JS Peper, KE Stanovich, LA Thompson, LR Cardon, M Alarcón, M Leeuwen Van, M Neale, MA Ferreira, Marieke van Leeuwen, MI McCarthy, MJ Snowling, R Cohen-Mimran, R Olson, R Plomin, RB Livingston, RD Tiu Jr, RD Tiu Jr, RJ Sternberg, S Sluis Van der, SA Petrill, SE Gathercole, SE Gathercole, SJ Wadsworth, SJ Wadsworth, Stéphanie M. van den Berg, TS Price, VS Knopik, X Ding   +56 more
core   +5 more sources

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

On Sin, Repentance, Christian Nurture, And The Genetics of Personality [PDF]

, 2012
Dean Homer\'s description of the genetics of personality includes two components: temperament and character. Temperament is a product of the interaction of the individual\'s genes with early stimuli, whereas character is formed by parenting, social ...
Keefer, Robert A.
core   +1 more source

Functional polymorphisms in the P2X7 receptor gene are associated with stress fracture injury [PDF]

, 2016
Context: Military recruits and elite athletes are susceptible to stress fracture injuries. Genetic predisposition has been postulated to have a role in their development.
A Gam, A Gartland, A Gartland, A Gartland, A Gartland, A Singer, A Wesselius, Alison Gartland, AM McBryde, AS Tenforde, C Chatzipapas, Craig Ranson, Craig Sale, Daniel S. Moran, David C. Hughes, DS Moran, E Friedman, Eitan Friedman, G Lambros, HZ Ke, I Varley, Ian Varley, J Korvala, J Li, James A. Gallagher, JH Tobias, JM Labasi, Julie P. Greeves, KL Bennell, KL Bennell, L Stokes, LB Husted, M Fredericson, M Gaeta, M Giladi, M Lorentzon, MB Schaffler, NR Jørgensen, Peter J. Wilson, R Yanovich, R Yanovich, Ran Yanovich, RM Gehrmann, SD Ohlendorff, SJ Warden, SJ Warden, ST Zwas, Trent Stellingwerff, W Gu, William D. Fraser, Y Benjamini   +50 more
core   +1 more source

Symposium 6: HLA and Non-HLA genetic predisposition

Revista de la Sociedad Argentina de Diabetes, 2020
Symposium 6: Autoimmune diabetes: heterogeneity in its clinical presentations HLA and Non-HLA genetic predisposition Type 1 diabetes is a multifactorial autoimmune disease.
Gloria Cerrone
doaj   +1 more source

Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Several single‐nucleotide polymorphisms (SNPs) have been associated with chronic pain syndromes. Our objective was to determine whether genetic variants are associated with pain and disease activity in rheumatoid arthritis (RA). Methods Participants were included from two independent RA cohorts: FORWARD (National Databank for Rheumatic ...
Katie J. McMenamin, Thomas R. Riley IV, Kristin Wipfler, Kaleb Michaud, Austin Wheeler, Bryant R. England, Brian Sauer, Katherine D. Wysham, Rui Xiao, Michael March, Grant W. Cannon, Sylvanus Toikumo, Henry R. Kranzler, Rachel L. Kember, Ted R. Mikuls, Joshua F. Baker   +15 more
wiley   +1 more source

Reduction in Renal Relapse and Preservation of Long‐Term Kidney Function After Lupus Low Disease Activity in Patients With Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective Lupus low disease activity state (LLDAS) is a validated treatment target in systemic lupus erythematosus (SLE), but limited studies have explored the role of LLDAS in lupus nephritis (LN). This study aims to investigate the frequency and predictors of LLDAS attainment and its benefit on LN relapse and renal function preservation in patients ...
Chak Kwan Cheung, Desmond Y. H. Yap, Ka Lai Lee, Philip H. Li, Iris Y. K. Tang, Chak Sing Lau, Shirley C. W. Chan   +6 more
wiley   +1 more source