Results 51 to 60 of about 424,292 (310)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Comprehensive analysis of the NAC transcription factor gene family in Sophora tonkinensis Gagnep

BMC Plant Biology
Background Sophora tonkinensis Gagnep. has long been utilized in the treatment of anti-inflammatory and pain-relieving, with its principal active compounds being alkaloids and flavonoids.
Ximei Liang, Shuangshuang Qin, Guili Wei, Xiaoyun Guo, Shugen Wei, Fan Wei, Ying Liang   +6 more
doaj   +1 more source

Color Inheritance ad Sex Inheritance in Certain Aphids [PDF]

Science, 1907
n ...
openaire   +3 more sources

Epigenetic inheritance of acquired traits through sperm RNAs and sperm RNA modifications

Nature reviews genetics, 2016
Once deemed heretical, emerging evidence now supports the notion that the inheritance of acquired characteristics can occur through ancestral exposures or experiences and that certain paternally acquired traits can be 'memorized' in the sperm as ...
Qi Chen, Wei Yan, E. Duan
semanticscholar   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Alterations in sperm DNA methylation, non-coding RNA and histone retention associate with DDT-induced epigenetic transgenerational inheritance of disease

Epigenetics & Chromatin, 2018
Environmental toxicants such as DDT have been shown to induce the epigenetic transgenerational inheritance of disease (e.g., obesity) through the germline.
M. Skinner, Millissia Ben Maamar, Ingrid Sadler‐Riggleman, Daniel Beck, E. Nilsson, Margaux McBirney, Rachel Klukovich, Yeming Xie, Chong Tang, Wei Yan   +9 more
semanticscholar   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Genes involved in the regulation of alkaloid and flavonoid biosynthesis in different tissues of Sophora tonkinensis via transcriptomics and metabolomics

BMC Plant Biology
Background Sophora tonkinensis Gagnep is a significant Chinese herbal medicine, primarily composed of alkaloids and flavonoids, which are its key pharmacological components.
Ying Liang, Guili Wei, Ximei Liang, Meiqiong Tang, Hong He, Danfeng Tang, Yang Lin, Linxuan Li, Shuangshuang Qin, Fan Wei   +9 more
doaj   +1 more source

Lipidomics-Based Investigation of the Effects of Ginsenoside FI on Free Fatty Acid-Induced Metabolism in HepG2 Cells

Pharmaceuticals
Objective: This study investigated the effects of ginsenoside F1 on lipid metabolism using cell-based assays combined with lipidomics. Methods: The optimal non-cytotoxic concentration of ginsenoside F1 was determined by the CCK-8 assay.
Jie Zhou, Dai-Feng Su, Yu-Xin Chi, Quan-Cheng Chen, Yu-Xin Huang, Shu-Xian Chen, Shuang Liu, Jin-Hao Liu, Wei-Yun Zhang   +8 more
doaj   +1 more source

Alterations in sperm long RNA contribute to the epigenetic inheritance of the effects of postnatal trauma

bioRxiv, 2018
Psychiatric diseases have a strong heritable component known to not be restricted to DNA sequence-based genetic inheritance alone but to also involve epigenetic factors in germ cells.
Katharina Gapp, Katharina Gapp, G. Steenwyk, Pierre-Luc Germain, Wayo Matsushima, Wayo Matsushima, Konrad L. M. Rudolph, Konrad L. M. Rudolph, F. Manuella, M. Roszkowski, G. Vernaz, G. Vernaz, Tanay Ghosh, Tanay Ghosh, P. Pelczar, I. Mansuy, Eric A. Miska, Eric A. Miska   +17 more
semanticscholar   +1 more source