Results 231 to 240 of about 210,167 (295)

Role of SoxE transcription factors in development and disease

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis. [PDF]

open access: yesDis Model Mech
Gijsbertsen M   +4 more
europepmc   +1 more source

Heterogeneous Single/Dual‐Atom Electrocatalysts in Lithium–Sulfur Batteries

open access: yesENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
This review summarizes recent advances in single‐atom and dual‐atom electrocatalysts for high‐performance lithium–sulfur batteries. The text systematically covers the classification of catalysts by active metal centers, key synthesis methods, in situ characterization for mechanistic insights, and electrocatalytic mechanisms.
Wenbin Li   +3 more
wiley   +1 more source

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

open access: yesEpilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon   +9 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze   +19 more
wiley   +1 more source

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