Results 211 to 220 of about 1,404,124 (275)

Comparative transcriptome and mutation analyses of the pancreatic islets of a rat model of obese type 2 diabetes identifies a frequently distributed nonsense mutation in the lipocalin 2 gene. [PDF]

DNA Res
Yokoi N, Adachi N, Hirokoji T, Nakano K, Yoshihara M, Shigenaka S, Urakawa R, Taniguchi Y, Yoshida Y, Yokose S, Suyama M, Okamura T.   +11 more
europepmc   +1 more source

CRISPR-Cas9 correction of a nonsense mutation in <i>LCA5</i> rescues lebercilin expression and localization in human retinal organoids. [PDF]

Mol Ther Methods Clin Dev, 2023
Afanasyeva TAV, Athanasiou D, Perdigao PRL, Whiting KR, Duijkers L, Astuti GDN, Bennett J, Garanto A, van der Spuy J, Roepman R, Cheetham ME, Collin RWJ.   +11 more
europepmc   +1 more source

A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia [PDF]

, 2001
Chi-Ming Li, Hung-Kun Chao, Yu‐Fen Liu, Tsung‐Sheng Su   +3 more
openalex   +1 more source

A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa. [PDF]

J Med Life
Ayub M, Xiong X, Anwer S, Altmüller J, Naeem M, Hassan N, Khan K, Motameny S, Khaliq S, Rehman FU, Uddin SA, Wali A, Betz R, Basit S.   +13 more
europepmc   +1 more source

ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation. [PDF]

Sci Rep, 2022
Sheriff A, Guri I, Zebrowska P, Llopis-Hernandez V, Brooks IR, Tekkela S, Subramaniam K, Gebrezgabher R, Naso G, Petrova A, Balon K, Onoufriadis A, Kujawa D, Kotulska M, Newby G, Łaczmański Ł, Liu DR, McGrath JA, Jacków J.   +18 more
europepmc   +1 more source

Novel homozygous nonsense mutation in glucagon-like peptide-2 receptor gene resulting in severe human illness. [PDF]

JPGN Rep
Jaramishian C, Kamal S, Martín MG, Minkoff NZ.   +3 more
europepmc   +1 more source

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer [PDF]

, 2002
Massimo Caputi, Raymond J. Kendzior, Karen Beemon   +2 more
openalex   +1 more source

Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy. [PDF]

Epilepsy Behav Rep
Mulkerrin G, Hennessy MJ.
europepmc   +1 more source

A Homozygous Nonsense Mutation and a Combination of Two Mutations of the Wilson Disease Gene in Patients with Different Lysyl Oxidase Activities in Cultured Fibroblasts

, 1997
Ritva Kemppainen, R Palatsi, Matti Kallioinen, Aarne Oikarinen   +3 more
openalex   +1 more source

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients [PDF]

, 2002
Celene Grayson
openalex   +1 more source