Results 141 to 150 of about 1,404,124 (275)

Nonsense mutation in factor VIII gene of a severe haemophiliac patient with anti-factor VIII antibody [PDF]

, 1988
Sadaaki Mikai, Takuya Nishimura, Hiroyuki Naka, Kuninori Kuze, Hiromu Fukui, Masahide Tone, Tamotsu Hashimoto-Gotoh   +6 more
openalex   +1 more source

Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema. [PDF]

, 1991
D Frangi, Marco Cicardi, Antonio Sica, Francesco Colotta, A Agostoni, Alvin E. Davis   +5 more
openalex   +1 more source

Nonsense mutations inhibit splicing of MVM RNA in cis when they interrupt the reading frame of either exon of the final spliced product. [PDF]

, 1992
Lisa K. Naeger, Robert V. Schoborg, Qi Zhao, Gregory E. Tullis, David J. Pintel   +4 more
openalex   +1 more source

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK. [PDF]

J Clin Immunol, 2023
Keller B, Kfir-Erenfeld S, Matusewicz P, Hartl F, Lev A, Lee YN, Simon AJ, Stauber T, Elpeleg O, Somech R, Stepensky P, Minguet S, Schraven B, Warnatz K.   +13 more
europepmc   +1 more source

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. [PDF]

, 1991
Serge Amselem, Marie‐Laure Sobrier, Philippe Duquesnoy, R Rappaport, M C Postel-Vinay, M Gourmelen, Bruno Dallapiccola, Michel Goossens   +7 more
openalex   +1 more source

Therapy for Cystic Fibrosis Caused by Nonsense Mutations

, 2015
Nonsense mutations cover about 10% of cystic fibrosis (CF) patients and generate premature termination codons (PTCs) leading to premature translational termination and causing the synthesis of truncated non-functional or partially functional CFTR (cystic fibrosis transmembrane conductance regulator) protein. The read-through approach is the suppression
GAMBARI, Roberto, BREVEGLIERI, Giulia, SALVATORI, Francesca, FINOTTI, Alessia, BORGATTI, Monica   +4 more
openaire   +4 more sources

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]

, 2016
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed, Ali, Shahbaz, Assir, Muhammad Zaman, Ayyagari, Radha, Gottsch, Alexander DH, Hejtmancik, J Fielding, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +11 more
core   +1 more source

EVIDENCE FOR NONSENSE MUTATIONS IN THE AROM GENE CLUSTER OF NEUROSPORA CRASSA

, 1968
Mary E. Case, Norman H. Giles
openalex   +2 more sources

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese [PDF]

, 1994
Takahiko Horiuchi, Nobuaki Hatta, Mitsuru Matsumoto, Hisashi Ohtsuka, FrancisS. Collins, Yuzuru Kobayashi, Shigeru Fujita   +6 more
openalex   +1 more source

In vitro studies on the mechanism of suppression of a nonsense mutation.

, 1965
Dean Engelhardt, Robert E. Webster, Robert C. Wilhelm, Norton D. Zinder   +3 more
openalex   +1 more source