Results 151 to 160 of about 11,911 (175)

MeCP2 MBD-ID module: a unified DNA/RNA binding interface disrupted in Rett syndrome. [PDF]

Nucleic Acids Res
Peter JA, Weiser TA, Niswander LA, Batey RT, Wuttke DS.   +4 more
europepmc   +1 more source

Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome. [PDF]

BMC Med Genomics
Sun L, Shu D, He W, Ma R, Tao H, Yang Z, Li Y, Liu Z, Zhang Y, Zhao Y.   +9 more
europepmc   +1 more source

A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay. [PDF]

Sci Rep
Zhao J, Feng J.
europepmc   +1 more source

Multiple mechanisms lead to loss-of-function effects of pathogenic SARS2 variants. [PDF]

Dis Model Mech
Del Greco C, Figueroa SML, Antonellis A.
europepmc   +1 more source

The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene. [PDF]

Mol Genet Genomic Med
Chen J, Ma Y, Li L, Peng H, Jiang H.
europepmc   +1 more source

Correction of the molecular phenotype of X-linked Dystonia-Parkinsonism reveals a non-canonical function of BRD4. [PDF]

Nat Commun
Capponi S, Ehret S, Camgöz Z, Gather F, Vaine CA, Özyerli-Göknar E, Follo M, Bragg DC, Vogel T, Timmers HTM.   +9 more
europepmc   +1 more source

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M. [PDF]

BMC Med Genomics
Yan L, Liu Y, Zhang Y, Han C, Cao J, Zou J, Luo H, Li H.   +7 more
europepmc   +1 more source

Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress

International Journal of Molecular Sciences, 2021
Splicing is an important RNA processing step. Genetic variations can alter the splicing process and thereby contribute to the development of various diseases.
Michael Hecker, Peter A. Lorenz, Brit Fitzner   +2 more
exaly   +2 more sources

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants [PDF]

Cancers, 2021
RAD51D loss-of-function variants increase lifetime risk of breast and ovarian cancer. Splicing disruption is a frequent pathogenic mechanism associated with variants in susceptibility genes.
Pedro Pérez-Segura, Víctor Lorca, Lara Sanoguera Miralles   +2 more
exaly   +7 more sources

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Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

Cancers, 2021
Leonardo Salviati, Maurizio Clementi, Eva Trevisson   +2 more
exaly