Results 101 to 110 of about 3,761,028 (302)

Co-ordinate regulation of cytokinin gene family members during flag leaf and reproductive development in wheat

BMC Plant Biology, 2012
Background As the global population continues to expand, increasing yield in bread wheat is of critical importance as 20% of the world’s food supply is sourced from this cereal.
Song Jiancheng, Jiang Lijun, Jameson Paula   +2 more
doaj   +1 more source

GPTIPS 2: an open-source software platform for symbolic data mining [PDF]

arXiv, 2014
GPTIPS is a free, open source MATLAB based software platform for symbolic data mining (SDM). It uses a multigene variant of the biologically inspired machine learning method of genetic programming (MGGP) as the engine that drives the automatic model discovery process.
arxiv  

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies

Clinical Genetics, Volume 107, Issue 6, Page 600-611, June 2025.
This study provides clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underscoring the critical role of molecular diagnosis in enhancing patient care. These recommendations aim to elevate diagnostic accuracy, guide therapeutic decisions, and ultimately improve patient outcomes, marking a significant ...
João Pedro Marques, Célia Azevedo Soares, Ana Luísa Carvalho, Sérgio Estrela‐Silva, Luísa Coutinho Santos, Lina Ramos, Eduardo Silva   +6 more
wiley   +1 more source

Genetic characterization of Plectorhinchus mediterraneus yields important clues about genome organization and evolution of multigene families

BMC Genetics, 2012
Background Molecular and cytogenetic markers are of great use for to fish characterization, identification, phylogenetics and evolution. Multigene families have proven to be good markers for a better understanding of the variability, organization and ...
Merlo Manuel A, Pacchiarini Tiziana, Portela-Bens Silvia, Cross Ismael, Manchado Manuel, Rebordinos Laureana   +5 more
doaj   +1 more source

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome

Clinical Genetics, EarlyView.
Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia, Alessandra Meloni, Silvia Sedda, Sanaa Choufani, Isadora Asunis, Giorgia Gemma, Antonio Ammendola, Arteen Torabi‐Marashi, Eleonora di Venere, Gabriella Maria Squeo, Vincenzo Rallo, Maria Giuseppina Marini, Paolo Moi, Salvatore Savasta, Rosanna Weksberg, Giuseppe Merla, Andrea Angius   +16 more
wiley   +1 more source

Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy. Diagnosis is clinical, but ~90% of patients have pathogenic variants in SCN1A. ATP6V0C has recently been proposed as a novel candidate gene for epilepsy, with or without developmental delay.
Marlene Rong, Paula T. Marques, Quratulain Zulfiqar Ali, Ricardo Morcos, Ilakkiah Chandran, Farah Qaiser, Rikke S. Møller, Allan Bayat, Guido Rubboli, Elena Gardella, Miriam S. Reuter, Tristan T. Sands, Ingrid E. Scheffer, Amy Schneider, Annapurna Poduri, Elaine Wirrell, Rima Nabbout, Joseph Sullivan, Kette Valente, Stéphane Auvin, Kelly G. Knupp, Andreas Brunklaus, Ángel Aledo‐Serrano, Danielle M. Andrade   +23 more
wiley   +1 more source

The Plasmodium falciparum STEVOR Multigene Family Mediates Antigenic Variation of the Infected Erythrocyte

PLoS Pathogens, 2009
Modifications of the Plasmodium falciparum–infected red blood cell (iRBC) surface have been linked to parasite-associated pathology. Such modifications enable the parasite to establish long-lasting chronic infection by evading antibody mediate immune ...
Makhtar Niang, Xue Yan Yam, P. Preiser
semanticscholar   +1 more source

EZH2 knockout in mice activates STAT3 signalling via STAT3 methylation and modulates ferroptosis in pulpitis‐affected dental pulp vascular endothelial cells: A laboratory investigation

International Endodontic Journal, EarlyView.
Abstract Aim Recent findings suggest that mitigating ferroptosis could serve as an effective strategy for treating inflammation. This study aimed to investigate the role that the enhancer of zeste homologue 2 (EZH2) mediated the signal transducer and activator of transcription 3 (stat3) methylation plays in the modulation of ferroptosis in pulpitis ...
Weilin Zhou, Weili Huang, Hongjing You, Minyi Zhang, Yue Ma, Lingjie Liu, Mengxuan Lin, Shuqi He, Yi Huang   +8 more
wiley   +1 more source

Clinical application of multigene panels: challenges of next generation counseling and cancer risk management

Frontiers in Oncology, 2015
Background: Multigene panels can be a cost- and time-effective alternative to sequentially testing multiple genes, especially with a mixed family cancer phenotype.
Thomas Paul Slavin, Mariana eNiell-Swiller, Ilana eSolomon, Bita eNehoray, Christina eRybak, Kathleen eBlazer, Jeffrey N Weitzel   +6 more
doaj   +1 more source

Diverse Expression Patterns of Subgroups of the rif Multigene Family during Plasmodium falciparum Gametocytogenesis

PLoS ONE, 2008
Background The maturation of Plasmodium falciparum gametocytes in the human host takes several days, during which the parasites need to efficiently evade the host immune system.
Michaela Petter, I. Bonow, M. Klinkert
semanticscholar   +1 more source