Results 231 to 240 of about 647,244 (359)

Restriction Enzyme Based Enriched L1Hs Sequencing (REBELseq): A Scalable Technique for Detection of Ta Subfamily L1Hs in the Human Genome. [PDF]

open access: yesG3 (Bethesda), 2020
Reiner BC   +11 more
europepmc   +1 more source

Enteric Adenovirus Type 41 Isolates: Cloning, Physical Maps and Diversity in Restriction Enzyme Cleavage Pattern [PDF]

open access: green, 1992
Yumi Yamashita   +7 more
openalex   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

DNA methylases for site-selective inhibition of type IIS restriction enzyme activity. [PDF]

open access: yesAppl Microbiol Biotechnol
Flores-Fernández CN   +3 more
europepmc   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee   +19 more
wiley   +1 more source

Short-range translocation by a restriction enzyme motor triggers diffusion along DNA. [PDF]

open access: yesNat Chem Biol
Göse M   +8 more
europepmc   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu   +12 more
wiley   +1 more source

Home - About - Disclaimer - Privacy