Results 221 to 230 of about 400,356 (307)

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Integrative Analysis of Vitamin D-Associated Genetic Variants Reveals Cis-Regulatory Architecture and Multigenic Mechanisms Underlying Chronic Disease-Relevant Pathways. [PDF]

Hum Mutat
Yue J, Zhang J, Xu K, Han P, Tan B.
europepmc   +1 more source

Causal correlations between inflammatory proteins and heart failure: A two‐sample Mendelian randomization analysis

ESC Heart Failure, Volume 12, Issue 2, Page 1374-1385, April 2025.
Abstract Aims Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation‐related proteins and HF risk remains unclear.
Xian‐Guan Zhu, Gui‐Qin Liu, Ya‐Ping Peng, Li‐Ling Zhang, Xian‐Jin Wang, Liang‐Chuan Chen, Yuan‐Xi Zheng, Xue‐Jun Xiang, Rui Qiao, Xian‐He Lin   +9 more
wiley   +1 more source

PathoAnalyzer-I: An Integrative Bioinformatics Platform for Chronic Disease Analysis. [PDF]

Bioinform Biol Insights
Aguerd A, Bennis F, Chegdani F.
europepmc   +1 more source

A translational multimodal machine‐learning prototype predicting valproate response in epilepsy treatment

Epilepsia, EarlyView.
Abstract Objective Epilepsy affects ~1% of the global population and often requires lifelong antiseizure medication (ASM) therapy. Valproic acid (VPA) is a commonly prescribed first‐line ASM, yet only approximately half of patients achieve sustained seizure freedom. Treatment selection remains largely empirical.
Simeon Platte, Afsheen Kumar, Giorgia Guerini, Massimo Pandolfo, Denise Haslinger, Colin B. Josephson, Guillermo Delgado‐García, Navprabhjot Kaur, Michaela‐Pauline Lux, Heiko Stempfle, Chantal Depondt, Reetta Kälviäinen, Felix Rosenow, Sophie von Brauchitsch, Karl Martin Klein, Andreas G. Chiocchetti   +15 more
wiley   +1 more source

Estimating the Abundance of a Cryptic, Endangered Marsupial, Mala (<i>Lagorchestes hirsutus</i>) Using Microsatellite and Single Nucleotide Polymorphism Genotyping Panels. [PDF]

Ecol Evol
Cummins D, Nilsson K, Thavornkanlapachai R, Ottewell K, Lohr C.   +4 more
europepmc   +1 more source

Pediatric epilepsy surgery: Global survey of referral and presurgical evaluation practices

Epilepsia, EarlyView.
Abstract Objective Pediatric epilepsy surgery is well established, but contemporary global data on referral and presurgical evaluation practices are lacking. This International League Against Epilepsy (ILAE) Pediatric Epilepsy Surgery Task Force study provides an updated overview of current trends and regional differences. Methods Group‐level data were
Georgia Ramantani, J. Helen Cross, Dorottya Cserpan, Emtnan Ahemad, Javier Aparicio, Alexis Arzimanoglou, Carmen Barba, William Bingaman, Kees Braun, Richard J. Burman, James Butler, Lixin Cai, Dezhi Cao, Roberto Caraballo, Mathilde Chipaux‐Raffo, Thomas Cloppenborg, Arthur Cukiert, Cristine Mella Cukiert, Sameer Dal, Dario Englot, Noelle Enright, Aria Fallah, Sarah Ferrand Sorbets, Martha Feucht, Deepak Gill, Laura Guio Mahecha, Aris Hadjinicolaou, Tove Hallböök, A. Simon Harvey, Hans Holthausen, Yuwu Jiang, Lakshminarayanan Kannan, Kalman A. Katlowitz, Katarzyna Kotulska‐Jóźwiak, Martin Kudr, Matt Lallas, Ahsan Moosa Naduvil Valappil, Sandeep Bhagwan Patil, Tom Pieper, Nicola Specchio, Manjari Tripathi, Lejla Vendegh, Howard Weiner, Jo Wilmshurst, Mary Lou Smith, Elaine Wirrell, ILAE Pediatric Epilepsy Surgery Task Force and Study Group, Fabrice Bartolomei, Juan Carlos Benedetti Isaac, Poodipedi Sarat Chandra, Mary Connoly, Daniel Curry, Vicki Deli‐Peri, Luca De Palma, Nabeel Diab, Petia Dimova, Carolina Munoz Castro, Georg Dorfmüller, Jana Domínguez, Gianluca D'Onofrio, Christin Eltze, Johannes M. Nico Enslin, András Fogarasi, Siby Gopinath, Renzo Guerrini, Giulia Nobile, Masaki Iwasaki, Sita Jayalakshmi, Takayuki Kikuchi, Noritsugu Kunihiro, Paweł Kowalczyk, Niklaus Krayenbühl, Pavel Kršek, Thilo Kalbhenn, Kensuke Kawai, Cassia Maniquis, Wim Otte, María Ángeles Pérez‐Jiménez, Juan Carlos Pérez‐Poveda, Catherine Riney, Jonathan Roth, Sabine Rona, Karl Rössler, Olga Teo, Oana Tarta Arsene, Laura Tassi, Hartlieb Till, T S Dhanya, Catalina Soto Órdenes, Piradee Suwanpakdee, Steffen Syrbe, Nigel Peter Symss, Jay Shetty, Dilşad Türkdoğan, Takehiro Uda, Naotaka Usui, Vrajesh Udani, Jithangi Wanigasinghe, Yi Wang   +98 more
wiley   +1 more source

The illusion of polygenicity in pool-seq genetic mapping studies: insufficient power can mask simple genetic architectures. [PDF]

Genetics
Long AD, Hanson KM, Macdonald SJ.
europepmc   +1 more source

Pediatric epilepsy surgery: Global survey of invasive explorations

Epilepsia, EarlyView.
Abstract Objective Invasive presurgical evaluation plays a key role in pediatric epilepsy surgery, particularly in magnetic resonance imaging (MRI)‐negative cases, by guiding resective, disconnective, or ablative procedures. This International League Against Epilepsy (ILAE) Pediatric Epilepsy Surgery Taskforce study provides an updated global overview ...
Georgia Ramantani, Martha Feucht, Dorottya Cserpan, Javier Aparicio, Alexis Arzimanoglou, Fabrice Bartolomei, William Bingaman, Kees P. J. Braun, Richard J. Burman, Dezhi Cao, Roberto Caraballo, Mathilde Chipaux‐Raffo, Thomas Cloppenborg, J. Helen Cross, Arthur Cukiert, Cristine Mella Cukiert, Daniel J. Curry, Luca De Palma, Petia Dimova, Christin Eltze, Dario J. Englot, Johannes M. Nico Enslin, Aria Fallah, Stefano Francione, Deepak Gill, Tove Hallböök, A. Simon Harvey, Hans Holthausen, Sita Jayalakshmi, Yuwu Jiang, Lakshminarayanan Kannan, Matt Lallas, Sandeep Bhagwan Patil, María Ángeles Pérez‐Jiménez, Juan Carlos Pérez‐Poveda, Tom Pieper, Sabine Rona, Victoria San Antonio‐Arce, Jay Shetty, Mary Lou Smith, Piradee Suwanpakdee, Oana Tarta Arsene, Laura Tassi, Martin Tisdall, Manjari Tripathi, Ahsan Moosa Naduvil Valappil, Howard Weiner, Elaine Wirrell, Lixin Cai, Sarah Ferrand‐Sorbets, ILAE Pediatric Epilepsy Surgery Taskforce and Study Group, Carmen Barba, Marcelo Budke, James Butler, Poodipedi Sarat Chandra, Mary Connoly, Sameer Dal, Georg Dorfmüller, Noelle Enright, Siby Gopinath, Aris Hadjinicolaou, Masaki Iwasaki, Thilo Kalbhenn, Kalman A. Katlowitz, Kensuke Kawai, Takayuki Kikuchi, Katarzyna Kotulska‐Jóźwiak, Niklaus Krayenbühl, Martin Kudr, Noritsugu Kunihiro, Cassia Maniquis, Ailsa McLellan, Carolina Munoz Castro, Lino Nobili, Wim Otte, Manas Panigrahi, Veronica Pelliccia, Karl Rössler, Siraruj Sakoolnamarka, Didier Scavarda, Catalina Soto Órdenes, Nicola Specchio, Nigel Peter Symss, TS Dhanya, Olga Teo, Hartlieb Till, Dilşad Türkdoğan, Takehiro Uda, Vrajesh Udani, Shimrit Uliel‐Sibony, Naotaka Usui, Carlos Valera, Lejla Vendegh, Yi Wang, Jithangi Wanigasinghe, Jo Wilmshurst, Oscar Zorro Guio   +96 more
wiley   +1 more source

The SNP Consortium: Summary of a Private Consortium Effort to Develop an Applied Map of the Human Genome

BioTechniques, 2002
Arthur L. Holden
doaj   +1 more source