Associated Papers
Connecting genotype and phenotype in minor spliceosome diseases.
Norppa AJ et al.
Rna (new York, N.y.), 2025
A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.
Yavas Abali Z et al.
Hormone Research in Paediatrics, 2024
Emerging roles of spliceosome in cancer and immunity.
Yang H et al.
Protein & Cell, 2022
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2021
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2020
Early developmental arrest and impaired gastrointestinal homeostasis in U12-dependent splicing-defective Rnpc3-deficient mice.
Doggett K et al.
Rna (new York, N.y.), 2018
Minor spliceosome and disease.
Verma B et al.
Seminars in Cell & Developmental Biology, 2018
Response to growth hormone in patients with RNPC3 mutations.
Martos-Moreno GÁ et al.
Embo Molecular Medicine, 2018
Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.
Norppa AJ et al.
Rna (new York, N.y.), 2018
Genetic causes of isolated and combined pituitary hormone deficiency.
Giordano M
Best Practice & Research. Clinical Endocrinology & Metabolism, 2016
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
Argente J et al.
Embo Molecular Medicine, 2014
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