Results 121 to 130 of about 2,712,849 (369)

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

Role of Genetic Testing in Kidney Stone Disease: A Narrative Review [PDF]

Purpose of Review: Kidney stone disease (KSD) is a common and potentially life-threatening condition, and half of patients experience a repeat kidney stone episode within 5–10 years. Despite the ~50% estimate heritability of KSD, international guidelines
Geraghty, Robert, Howles, Sarah, Lovegrove, Catherine, Sayer, John A.   +3 more
core   +5 more sources

Association study of functional genetic variants of innate immunity related genes in celiac disease [PDF]

, 2005
BACKGROUND: Recent evidence suggest that the innate immune system is implicated in the early events of celiac disease (CD) pathogenesis. In this work for the first time we have assessed the relevance of different proinflammatory mediators typically ...
A Craggs, A Ide, A Zhernakova, AD Eaton, AE Timms, AH Hajeer, AS Louka, AS Louka, B Rueda, B Rueda, BH Rovin, BPC Koeleman, CG Parks, CH Liao, CL Mann, D Schuppan, D Seegers, DH McDermott, EG de la Concha, EL Kaijzel, EM Nilsen, F al Sharif, F Dudbridge, FS di Giovine, G Forsberg, H Lettesjo, H Liu, HL Kim, J Martín, JA Gracie, JK Tarlow, K Nakajima, L Maiuri, L Tuckova, LM Sollid, M Tone, M Tucci, MA López-Nevot, MC Fornari, N Woolley, P Novota, PH Green, R Gade-Andavolu, RF Makki, SK Hall, SS Witkin, TL McDowell, V Giedraitis, VM Salvati, WJ Gauderman, WP Arend, Y Chowers   +51 more
core   +3 more sources

Correlation Between Fecal Microbiota and Corticosteroid Responsiveness in Primary Immune Thrombocytopenia: an Exploratory Study

Advanced Science, EarlyView.
This study uses gut microbiome data to predict corticosteroid response in patients with immune thrombocytopenia (ITP). Fecal samples from 212 patients with ITP are sequenced. Six machine‐learning algorithms are used to train predictive models. The support vector machine‐based model integrated clinical data and selected microbial species, diversities ...
Feng‐Qi Liu, Zhuo‐Yu An, Li‐Juan Cui, Meng‐Yu Xiao, Ye‐Jun Wu, Wei Li, Bang‐Shuo Zhang, Li Yu, Jia Feng, Zhuo‐Gang Liu, Ru Feng, Zhong‐Xing Jiang, Rui‐Bin Huang, Hong‐Mei Jing, Jin‐Hai Ren, Xiao‐Yu Zhu, Yun‐Feng Cheng, Yu‐Hua Li, He‐Bing Zhou, Da Gao, Yi Liu, Fan Yu, Xin Wang, Jian‐Lin Qiao, Dai‐Hong Hu, Lu‐Lu Wang, Meng‐Tong Zang, Qi Chen, Qing‐Yuan Qu, Jian‐Ying Zhou, Meng‐Lin Li, Yu‐Xiu Chen, Qiu‐Sha Huang, Hai‐Xia Fu, Yue‐Ying Li, Qian‐Fei Wang, Xiao‐Jun Huang, Xiao‐hui Zhang, the Cooperative ITP Working Group   +38 more
wiley   +1 more source

The Georgia Cardiovascular Twin Study: Influence of Genetic Predisposition and Chronic Stress on Risk for Cardiovascular Disease and Type 2 Diabetes [PDF]

, 2006
Dongliang Ge, Yanbin Dong, Xiaoling Wang, Frank A. Treiber, Harold Snieder   +4 more
openalex   +2 more sources

Analyzing large-scale DNA Sequences on Multi-core Architectures [PDF]

arXiv, 2015
Rapid analysis of DNA sequences is important in preventing the evolution of different viruses and bacteria during an early phase, early diagnosis of genetic predispositions to certain diseases (cancer, cardiovascular diseases), and in DNA forensics. However, real-world DNA sequences may comprise several Gigabytes and the process of DNA analysis demands
arxiv  

Genetic Predisposition To Ischemic Heart Disease

, 2018
Among cardiovascular disease, ischemic heart disease (IHD) is the most frequent cause of mortality all over the world1. However, as well known, CAD and IHD are not always synonymous. In fact, there are other pathophysiological mechanisms which have a role in IHD development2,3.
openaire   +2 more sources

International Veterinary Epilepsy Task Force consensus proposal: Medical treatment of canine epilepsy in Europe [PDF]

, 2015
In Europe, the number of antiepileptic drugs (AEDs) licensed for dogs has grown considerably over the last years. Nevertheless, the same questions remain, which include, 1) when to start treatment, 2) which drug is best used initially, 3) which ...
A Fischer, A Khoutorsky, A Tipold, AJ Streeter, AJ Wilensky, AK Cook, Akos Pakozdy, AM Kiviranta, Andrea Fischer, Andrea Tipold, B Dayrell-Hart, BF Bourgeois, C O'Dell, C Rundfeldt, C Rundfeldt, CH Gulløv, CL Gaskill, CL Gaskill, Clare Rusbridge, CW Dewey, CW Dewey, CW Dewey, D Ruehlmann, D Schwartz-Porsche, DJ Morton, DM Boothe, DM Boothe, DW Chadwick, DW Kaufman, Edward E. Patterson, EE Patterson, ES Nichols, F Al-Tahan, G Hussein, G Jacobs, GC Farnbach, GD Montouris, GD Thurman, GJ Sills, GW Caldwell, H Freitag, HA Volk, HE Baird-Heinz, Heidrun Potschka, HH Frey, HH Frey, HM Wright, Holger A. Volk, HS White, IC Wong, IE Leppik, IH Shaik, J Janszky, J Speciale, J Weissl, Jacques Penderis, JJ Shih, JJ Shih, JM Pellock, JT Yarrington, JY Chung, K Orito, KA Lyseng-Williamson, Karen Muñana, Kaspar Matiasek, KL Weiss, KR Muñana, KR Muñana, KR Muñana, L Alves, L Risio De, LA Trepanier, LA Trepanier, LA Trepanier, LA Trepanier, LD Cahan, LJ Stephen, LL Radulovic, Luisa De Risio, M Berendt, M Berendt, M Bialer, M Charalambous, M Govendir, M Podell, M Podell, M Podell, M Podell, M Schwartz, M Taverna, M1 Contin, MA Rogawski, Mette Berendt, MFD Steinberg, Michael Podell, ML Miller, N Scola, P Jull, P Kwan, PA March, PA March, Paul J.J. Mandigers, PB Müller, PN Patsalos, R Monteiro, RD Elterman, RE Levitski, RM Packer, Robyn G. Farquhar, RS Hess, S Daminet, S Rieck, S Shorvon, SA Kube, SA Moore, SA Moore, Sam Long, SD Forrester, SD Shorvon, SE Bunch, SE Martinez, SI Johannessen, Simon Platt, SM Roche La, SO Wagner, Sofie F.M. Bhatti, SR Platt, T Glauser, T Hojo, T Klopmann von, T Klopmann von, TA Glauser, TL Gieger, TL Gieger, TP Sutula, V Hülsmeyer, V Salazar, VE Adusumalli, Veronika M. Stein, W Löscher, W Löscher, WB Thomas, WB Thomas, WM Pedersoli, Wolfgang Löscher, WR Garnett, WR Ravis, WR Ravis, Y Heynold   +148 more
core   +7 more sources

Coordinated Role of Autophagy and ERAD in Maintaining Neuroendocrine Function by Preventing Prohormone Aggregation

Advanced Science, EarlyView.
By studying the maturation mechanisms of vasopressin (AVP), this manuscript identifies FAM134B‐mediated ER‐phagy as a critical pathway for degrading both aggregated proAVP and the key ERAD component, HRD1. HRD1 induction mitigates proAVP aggregation and support AVP neuron function in the absence of autophagy.
Xuya Pan, Xing He, Su Wu, Na Xiong, Xinyu Hou, Heting Wang, Diane Somlo, Martin Spiess, Haiyang Wang, Jifeng Yang, Chunliang Li, Shasha Li, Wenbin Ma, Yanming Chen, Jun Cui, Ling Qi, Guojun Shi   +16 more
wiley   +1 more source

A tagging polymorphism in fat mass and obesity-associated (FTO) gene is associated with sepsis status in children

Romanian Journal of Internal Medicine
Sepsis is one of the most common causes of death in patients admitted to intensive care units (ICUs). The development of sepsis is significantly influenced by genetic predisposition.
Jabandziev Petr, Hubacek Jaroslav Alois, Michalek Jaroslav, Jouza Martin, Papez Jan, Pecl Jakub, Slaba Katerina, Slaby Ondrej, Urik Milan, Aulicka Stefania, Kunovsky Lumir, Michalek Jaroslav, Dominik Petr, Kratochvil Milan, Klucka Jozef, Stourac Petr   +15 more
doaj   +1 more source