Results 191 to 200 of about 282,363 (268)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

MicroRNAs in cancer: biogenesis, biomarkers and therapeutic strategies. [PDF]

open access: yesFront Med (Lausanne)
Rawat N, Babu N, Hussain A, Panwar AS.
europepmc   +1 more source

A turn-on fluorescent nucleoside enabling sequence-insensitive DNA labeling. [PDF]

open access: yesNucleic Acids Res
Li J   +14 more
europepmc   +1 more source

Bottlebrush polymer conjugates for enhanced antisense oligonucleotide therapy in myotonic dystrophy type 1. [PDF]

open access: yesNucleic Acids Res
Li Y   +15 more
europepmc   +1 more source

Position-Dependent Stabilization of DNA/RNA Duplexes by Site-Specific Incorporation of LNA Nucleosides. [PDF]

open access: yesJ Nucleic Acids
Tomita-Sudo E   +6 more
europepmc   +1 more source

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