Results 261 to 270 of about 1,141,533 (358)

Sarcopenia and Risk of Cognitive Impairment: Cohort Study and Mendelian Randomization Analysis. [PDF]

JMIR Aging
Sha T, Zhang Y, Wei J, Li C, Zeng C, Lei G, Wang Y.   +6 more
europepmc   +1 more source

Cannabidiol attenuates epileptic phenotype and increases survival in a mouse model of developmental and epileptic encephalopathy type 1

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo, Fabio Arturo Iannotti, Denise Drongitis, Katiuscia Martinello, Loredana Poeta, Adriano Barra, Gaetano Terrone, Sergio Fucile, Vincenzo Di Marzo, Maria Giuseppina Miano   +9 more
wiley   +1 more source

Mendelian Randomization Analysis of Mitochondria-Related Genes and Screening of Prognostic Genes in Colorectal Cancer. [PDF]

Cancer Med
Zhu L, Huang X, Zhang F, Yang J, Xu Z.
europepmc   +1 more source

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development

The FEBS Journal, EarlyView.
Three skeletal muscle diseases are linked to HMGCR, a key enzyme in cholesterol synthesis. These diseases include a muscular dystrophy associated with pathogenic variants in the HMGCR gene, statin‐associated myopathy, and autoimmune anti‐HMGCR myopathy.
Mekala Gunasekaran, Hannah R. Littel, Natalya M. Wells, Johnnie Turner, Gloriana Campos, Sree Venigalla, Elicia A. Estrella, Partha S. Ghosh, Audrey L. Daugherty, Seth A. Stafki, Louis M. Kunkel, A. Reghan Foley, Sandra Donkervoort, Carsten G. Bönnemann, Laura Toledo‐Bravo de Laguna, Andres Nascimento, Daniel Natera‐de Benito, Isabelle Draper, Christine C. Bruels, Christina A. Pacak, Peter B. Kang   +20 more
wiley   +1 more source

Instrumental Variables Analysis and Mendelian Randomization for Causal Inference

The Journal of Infectious Diseases
Moodie, E.E.M., Cessie, S. le
openaire   +3 more sources

Endometriosis and Ovarian Cancer: Insights from NHANES and Mendelian Randomization Analysis. [PDF]

Reprod Sci
Liu D, Wu Y, Zhou K.
europepmc   +1 more source

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses

The FEBS Journal, EarlyView.
Gle1 knockout mice fail to segregate cell lineages at the blastocyst stage, resulting in very early embryonic lethality. Gle1 knock‐in (KI) mice harboring a pathogenic variant giving rise to lethal congenital contracture syndrome 1 show both known and novel innervation defects, supportive of multiorgan pathology in human fetuses.
Tomáš Zárybnický, Sonja Lindfors, Saana Metso, Julia Koivula, Zoltan Szabo, Rasmus Valtonen, Mikko Tulppo, Johanna Magga, Samu Saarimäki, Sonja Bläuer, Ilkka Miinalainen, Risto Kerkelä, Petteri. T. Piepponen, Vootele Voikar, Juho Väänänen, Riikka Kivelä, Bhagwan Yadav, Hanna Lindgren, Pirkko Mattila, Fu‐Ping Zhang, Petra Sipilä, Reetta Hinttala, Satu Kuure   +22 more
wiley   +1 more source

Causal Relationship Between Depression and Traumatic Brain Injury: A Two-Sample Mendelian Randomization Analysis. [PDF]

Brain Behav
Wang S, Pan L, Wang B, Ruan Q, Shi Y, Sun T, Yang X, Zhang L, Ke X, Li G, Qiu M, Li C.   +11 more
europepmc   +1 more source

A Recursive Model Approach to Include Epigenetic Effects in Genetic Evaluations Using Simulated DNA Methylation Effects

Journal of Animal Breeding and Genetics, EarlyView.
ABSTRACT The advancement of epigenetics has highlighted DNA methylation as an intermediate‐omic influencing gene regulation and phenotypic expression. With emerging technologies enabling the large‐scale and affordable capture of methylation data, there is growing interest in integrating this information into genetic evaluation models for animal ...
Adrián López‐Catalina, Mohamed Ragab, Antonio Reverter, Oscar González‐Recio   +3 more
wiley   +1 more source

A Similarity Matrix for Preserving Haplotype Diversity Amongst Parents in Genomic Selection

Journal of Animal Breeding and Genetics, EarlyView.
ABSTRACT In genomic selection, balancing genetic gain with the preservation of genetic diversity is a critical challenge, requiring innovative approaches to parent selection. Traditional methods risk losing valuable genetic diversity by not fully accounting for the complex patterns of haplotype distribution.
Abdulraheem A. Musa, Norbert Reinsch
wiley   +1 more source