Results 191 to 200 of about 1,704,122 (259)

Calcium Shock Enables Efficient and Programmable Particle Delivery for Genome Editing Applications

open access: yesAdvanced Science, EarlyView.
Classical transfection and transduction are inefficient, particularly with confluent cells and organoids, and lack cell type‐specific programmability. This study presents calcium shock (CaSh), a method that dramatically improves particle delivery into single cells, colonies, and organoids.
Nicole Vo   +12 more
wiley   +1 more source

Osteogenesis Imperfecta with a gross deletion including the <i>COL1A1</i> gene, induced by Alu-driven microhomology-mediated end joining. [PDF]

open access: yesBone Rep
Yamamoto K   +12 more
europepmc   +1 more source

Temporal and Cell‐Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1

open access: yesAdvanced Science, EarlyView.
Chd1, the Drosophila homologue of mammalian CHD2 ‐ a gene linked to autism, epilepsy, and intellectual disability, is required for synaptic homeostatic plasticity. Chd1 in glia is necessary for the rapid induction of synaptic homeostasis, whereas Chd1 in motoneurons, muscle, and glia is critical for long‐term maintenance.
Danielle T. Morency   +19 more
wiley   +1 more source

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype. [PDF]

open access: yesClin Dysmorphol
Pakhathirathien P   +7 more
europepmc   +1 more source

Gαi1/3 Is a Novel Regulatory Target for RANKL Signal Transduction and Osteoporosis

open access: yesAdvanced Science, EarlyView.
ABSTRACT Osteoporosis, characterized by progressive bone loss and increased fracture risk, is a growing concern as the population ages. Current treatments, though advanced, remain limited, underscoring the necessity for novel therapeutic targets. Recent studies have shown that the immune system plays a key role in osteoporosis, with osteoclasts driving
Chaowen Bai   +15 more
wiley   +1 more source

Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature. [PDF]

open access: yesHum Genome Var
Narita C   +5 more
europepmc   +1 more source

The Disordered Region of ASXL1 Acts as an Auto‐Regulator Through Condensation

open access: yesAdvanced Science, EarlyView.
ASXL1's long IDR encodes an electrostatic “basic platform + acidic brake” that autoregulates condensation. Truncation at a clinical hotspot lifts this brake, forming condensates that retarget BRD2, remodel local chromatin accessibility, and impair neutrophil maturation.
Xiao Fang, Qiwei Li, Wenqing Zhang
wiley   +1 more source

RNF213 Is an Interferon‐Stimulated Gene That Targets Influenza A Virus NP and Activates MDA5 to Restrict Infection

open access: yesAdvanced Science, EarlyView.
RNF213 is characterized as a dual‐functional antiviral effector. It directly mediates the degradation of the influenza A virus nucleoprotein (NP) while simultaneously activating the MDA5‐mediated innate immune signaling pathway. This coordinated response establishes a powerful host defense system against viral infection. ABSTRACT Influenza A virus (IAV)
Haoning Li   +5 more
wiley   +1 more source

Detection of Copy-Number Variations in CNS Tumours From Off-Target Reads of Hybrid-Capture Sequencing. [PDF]

open access: yesNeuropathol Appl Neurobiol
Schnorrenberg J   +7 more
europepmc   +1 more source

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