Results 211 to 220 of about 204,351 (287)

Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN ‐Related Short Stature

Clinical Genetics, Volume 109, Issue 2, Page 374-379, February 2026.
This study evaluated growth hormone (GH) therapy in children from an extended family with genetically confirmed ACAN‐related short stature. While GH treatment improved growth velocity, the response varied among individuals, and its long‐term impact on final adult height remains to be determined.
Einat Shalev‐Goldman, Ayman Asaly, Hadas Ityel, Ben Pode‐Shakked, Dalit Modan‐Moses, Yael Levy‐Shraga   +5 more
wiley   +1 more source

Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11: a case report. [PDF]

J Med Case Rep
Luo A, Luo Z, Xu Z, Liao S.
europepmc   +1 more source

Rapid Deadenylation Triggered by a Nonsense Codon Precedes Decay of the RNA Body in a Mammalian Cytoplasmic Nonsense-Mediated Decay Pathway

Molecular and Cellular Biology, 2003
Chyi-Ying A. Chen, A. Shyu
semanticscholar   +1 more source

A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications. [PDF]

BMC Pulm Med
Franco G, Bertola F, Aloisi F, Promi S, Zanini U, Faverio P, Bentivegna A, Borie R, Crestani B, Cazzaniga G, Luppi F.   +10 more
europepmc   +1 more source

Case Report: A novel <i>de novo SPI1</i> mutation identified in a Chinese patient with agammaglobulinemia. [PDF]

Front Immunol
Peng Q, Deng M, Zeng X, Cheng Q, Xie M, Li S, Lu X.   +6 more
europepmc   +1 more source

Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance

Molecular and Cellular Biology, 1994
Jiu Cheng, P. Belgrader, Xianbo Zhou, Lynne E. Maquat   +3 more
semanticscholar   +1 more source

Recovery of α-L-fucosidase in fucosidosis nonsense variants by readthrough stimulation and release factor degradation.

Dis Model Mech
Bäumges H, Lebeda D, Deppe P, Ilse MB, Thoms S, Lübke T.   +5 more
europepmc   +1 more source

Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss. [PDF]

Hum Genome Var
Almontashiri NAM.
europepmc   +1 more source

Ribosomal read through as an alternative therapy for patients with hemophilia with nonsense mutations. [PDF]

J Thromb Haemost
Liu Z, Srivastava V, Hussain A, Zhang B.
europepmc   +1 more source

Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia.

Blood, 1994
Georgina W. Hall, S. Thein
semanticscholar   +1 more source