Results 41 to 50 of about 247,724 (50)

Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment. [PDF]

Genes (Basel)
Barbarii T, Tudorache RA, Craiu D, Neagu E, Brinduse LA, Burloiu CM, Iliescu CM, Budisteanu M, Minciu I, Barca DG, Sandu C, Tarta-Arsene O, Pomeran C, Motoescu C, Dica A, Anghelescu C, Surlica D, Toma AI, Butoianu N.   +18 more
europepmc   +1 more source

Aberrant Splicing of <i>Dnm1l</i> Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1). [PDF]

Circ Genom Precis Med
Adesanya O, Nabie P, Betancourt A, Kalsotra A.   +3 more
europepmc   +1 more source

Beyond the diagnosis: Unraveling <i>DSPP</i> genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta. [PDF]

Jpn Dent Sci Rev
Boonyakanog A, Sriwangyang K, Eamtanaporn T, Krasaesin A, Fakhruddin KS, Chantarangsu S, Cho SD, Rokny HA, Porntaveetus T.   +8 more
europepmc   +1 more source

Lung adenocarcinoma with <i>ALK</i> deletion of exons 6-20 with response to sequential ALK inhibitors: a case report. [PDF]

Transl Lung Cancer Res
Jinno K, Imabayashi T, Tanaka T, Yamamoto K, Tanaka S, Uda S, Yuba T, Takumi C.   +7 more
europepmc   +1 more source

Exploring exon excision as a therapeutic intervention strategy for the future treatment of <i>ADGRV1-</i>associated retinitis pigmentosa. [PDF]

Mol Ther Nucleic Acids
Stemerdink M, Malinar L, Broekman S, Peters T, Ensink I, Ivanchenko MV, Venselaar H, Kremer H, de Vrieze E, van Wijk E.   +9 more
europepmc   +1 more source

Analysis of cfDNA fragmentomics metrics and commercial targeted sequencing panels. [PDF]

Nat Commun
Helzer KT, Sharifi MN, Sperger JM, Chrostek MR, Bootsma ML, Reese SR, Taylor A, Kaufmann KR, Krause H, Schehr J, Sethakorn N, Kosoff D, Kyriakopoulos CE, Bassetti M, Blitzer G, Floberg J, Sjöström M, Armstrong AJ, Beltran H, McKay RR, Feng FY, O'Regan R, Wisinski KB, Emamekhoo H, Wyatt AW, Lang JM, Zhao SG.   +26 more
europepmc   +1 more source

Regulation of NTRK2 alternative splicing by PRPF40B controls neural differentiation and synaptic plasticity. [PDF]

Cell Death Dis
Duarte-Ruiz M, Moreno-Castillo A, El Yousfi Y, Moreno-Castro C, Martínez-Martínez N, Jiménez-Lozano S, Kennel M, Ruiz-Rodríguez C, Rodríguez-Caparrós A, López-Ros J, de la Grange P, Hernández-Munain C, Suñé C.   +12 more
europepmc   +1 more source

Chimeric RNA isoforms generated by diverse mechanisms from two C-type lectins modulate innate immunity in arthropods. [PDF]

Proc Natl Acad Sci U S A
Huang Y, Huang X, Zhang LH, Ren Q.
europepmc   +1 more source