Results 301 to 310 of about 3,325,944 (356)

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear   +16 more
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

KPNA2 promotes osteosarcoma progression by regulating the alternative splicing of DDX3X mediated by YBX1. [PDF]

open access: yesOncogene
Cao L   +10 more
europepmc   +1 more source

ABA-induced alternative splicing drives transcriptomic reprogramming for drought tolerance in barley. [PDF]

open access: yesBMC Plant Biol
Collin A   +5 more
europepmc   +1 more source

SRSF7 promotes pulmonary fibrosis through regulating PKM alternative splicing in lung fibroblasts. [PDF]

open access: yesActa Pharm Sin B
Jin T   +20 more
europepmc   +1 more source

Alternative splicing fine-tunes prey shift of Coccinellini lady beetles to non-target insect. [PDF]

open access: yesBMC Genomics
Tang X   +9 more
europepmc   +1 more source

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