Results 191 to 200 of about 133,000 (265)

Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision Therapeutics. [PDF]

Genes (Basel)
Goel H.
europepmc   +1 more source

Signatures of nonsense-mediated mRNA decay but no evidence for transcriptional adaptation associated with protein-truncating variants in wild yeast diploids. [PDF]

Mol Biol Evol
Marszałek M, Babik W, Korona R, Tomala K.   +3 more
europepmc   +1 more source

DPB1*1822:01N, a Novel HLA Allele Identified by Targeted Next Generation Sequencing in a Chinese Healthy Individual. [PDF]

HLA
Guo H, Wang L, Xu F, Shi M, Chen Y.
europepmc   +1 more source

Expanding the Genomic Spectrum of <i>NHLRC2</i>-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon. [PDF]

Int J Mol Sci
Rozhkova AV, Esibov AA, Borkovskaia AN, Rutkovskaya EA, Groznova OS, Sagaydak OV, Doroshchuk NA, Krupinova JA, Mityaeva ON, Woroncow M, Bogdanov VP, Volchkov PY.   +11 more
europepmc   +1 more source

Toward More Accurate Diagnosis in Neurofibromatosis Type 1: A Dual-Level Analysis of Clinical and Molecular Data with Exploratory Genotype-Phenotype Correlations in a Romanian Cohort. [PDF]

Genes (Basel)
Butnariu LI, Grigore E, Schreiner TG, Darie L, Popa S, Grigore I.   +5 more
europepmc   +1 more source

PTC124 promotes mutation site-dependent readthrough of STK11 nonsense mutations and restores tumor suppressor function. [PDF]

BBA Adv
Hung CH, Wang HH, Cheng YT, Chen JY, Lin KY, Chen ST, Pan TY, Lin HJ, Chen CC, Cai BH.   +9 more
europepmc   +1 more source

Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani families. [PDF]

Mol Biol Rep
Ahmad R, Naeem M, Houlden H.
europepmc   +1 more source

Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia A. [PDF]

Mol Med
Testa MF, Pinotti M, Branchini A, Mancuso ME, Bernardi F, Balestra D.   +5 more
europepmc   +1 more source

Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-Site <i>MAOA</i> Variant and Case-Based Review. [PDF]

Int J Mol Sci
Gravagno E, Bellini M, Ambrosini E, Luberto A, Busciglio S, Vitetta G, Cannizzaro IR, Taiani A, Barili V, Percesepe A, Uliana V, Martorana D.   +11 more
europepmc   +1 more source

Novel Homozygous <i>LAMC3</i> Frameshift Variant Associated with Confluent Leukoencephalopathy and Low-Grade Tectal Glioneuronal Tumor: Expanding the Phenotypic Spectrum with Bioinformatic Characterization. [PDF]

Life (Basel)
Bozlak S, Yavas C, Yilmaz HI, Sonmez O, Perk P, Esen TE, Cetinkaya D, Dogan T, Bozlak S.   +8 more
europepmc   +1 more source