Results 91 to 100 of about 9,190 (179)

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

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1. [PDF]

Hum Genomics
Planté-Bordeneuve P, Jourdain AS, Thuillier C, Caux A, Tessarech M, Meneboo JP, Ait-Yahya E, Costantini S, Brunelle P, Smol T.   +9 more
europepmc   +1 more source

Preparation of a Functional Rat LDL Receptor Minigene.

International journal of biomedical investigation
The majority of the low-density lipoprotein (LDL) receptors present in the body are expressed in the liver. Therefore, plasma LDL levels significantly correlate with changes in the activity of the hepatic LDL receptor. Based on this, there is a need to understand the regulatory mechanisms that control the hepatic expression of the low-density ...
Catherine J, Wooten, Dayami, Lopez
openaire   +1 more source

When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification. [PDF]

HGG Adv
Lin JH, Wu H, Tang XY, Masson E, Stenson PD, Phillips AD, Cooper DN, Férec C, Liao Z, Zou WB, Chen JM.   +10 more
europepmc   +1 more source

c.98 + 3A>G and c.155 + 1G>T splice-site variants in the <i>ABO*B.01</i> allele lead to weak antigen expression in the Chinese individuals. [PDF]

Front Immunol
Zhang J, Ying Y, Hong X, Zhu F.
europepmc   +1 more source

Correction: Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus

Frontiers in Genetics
Shijie Zhou, Shijie Zhou, Hao Zhang, Hao Zhang, Xue Li, Xue Li, Quan Chen, Quan Chen, Zhihong Xu, Zhihong Xu   +9 more
doaj   +1 more source

A Novel <i>ABO*O.01.02-B.01</i> Hybrid Allele with a c.28+1G>A Variation Causing the Bel Phenotype. [PDF]

Ann Lab Med
Shao LN, Li CX, Xia YX, Yang YC, Li N, Wang LY, Zhou SH, Fan YX.   +7 more
europepmc   +1 more source

Functional Analyses in Patient-Derived Neurons Establish Pathogenicity for <i>STXBP1</i> Splice Variant c.429+5G>A. [PDF]

Hum Mutat
Korhorn S, Sharma A, Sprengers JJ, Anand S, Ramautar JR, Linkenkaer-Hansen K, Bruining H, Toonen RF, Verhage M, Misra-Isrie M.   +9 more
europepmc   +1 more source

Minigene-based splicing analysis uncovers pathogenic splice-altering effects of PAX2. [PDF]

BMC Pediatr
Chi D, Xu K, Ren Y, Ding J, Wang F.
europepmc   +1 more source

HnRNP C binding to inverted <i>Alu</i> elements protects the transcriptome from pre-mRNA circularization. [PDF]

Sci Adv
Marini A, Pitolli C, Ciccone S, Pieraccioli M, Robil N, Naro C, Palluzzi F, Giansanti M, Tamburrini G, Giacò L, de la Grange P, Nazio F, Bielli P, Sette C, Pagliarini V.   +14 more
europepmc   +1 more source