Results 301 to 310 of about 222,325 (351)

ATAC‐seq in Emerging Model Organisms: Challenges and Strategies

open access: yesJournal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Principle of ATAC‐seq (left), overview of arthropod species with published ATAC‐seq data (middle), summary of experimental design (right). ABSTRACT The Assay for Transposase‐Accessible Chromatin with sequencing (ATAC‐seq) is a versatile and widely utilized method for identifying potential regulatory regions, such as promoters and enhancers, within a ...
Duğçar Ebrar Erdoğan   +13 more
wiley   +1 more source

Invasive Meningococcal Disease in a Patient With Complement 7 Deficiency

open access: yesJournal of General and Family Medicine, EarlyView.
ABSTRACT Neisseria meningitidis can cause invasive meningococcal disease (IMD). Individuals with primary complement deficiencies are at a higher risk of developing IMD. However, cases of IMD associated with complement deficiency have rarely been reported in Japan.
Hiroaki Nishioka   +2 more
wiley   +1 more source

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

open access: yesMovement Disorders, EarlyView.
Abstract Background Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early‐onset myoclonus, epilepsy, generalized tonic–clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be associated with developmental and ...
Fulya Akçimen   +13 more
wiley   +1 more source

Compound Heterozygous Structural Variants in Cases with Unsolved PRKN‐Associated Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background Biallelic mutations in the PRKN gene are a common cause of early‐onset Parkinson's disease (EOPD). In addition to single nucleotide variants, structural variants contribute substantially to the mutational profile of PRKN. A significant portion of patients with EOPD remains genetically unsolved.
Agata Fant   +24 more
wiley   +1 more source

Inhibition of the minor spliceosome restricts the growth of a broad spectrum of cancers. [PDF]

open access: yesEMBO Rep
Doggett K   +16 more
europepmc   +1 more source

The chloroplast genome of Taxus sumatrana, an endangered medicinal tree from Indonesia. [PDF]

open access: yesBMC Res Notes
Indriani F   +5 more
europepmc   +1 more source

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