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Search results (76)

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CDIN1-Codanin-1 complex defective in congenital dyserythropoietic anaemia type I is an RNA nuclease.

Brolih S. et al, (2026), Nat Commun

MAFF regulates ferroptotic sensitivity through iron homeostasis and fatty acid synthesis.

Vilaplana Lopera N. et al, (2026), Cell Death Dis

Using Patient Feedback to Improve Treatment Outcomes for Patients with Congenital Dyserythropoietic Anaemia Type I Receiving Interferon Therapy.

Frey K. et al, (2026), J Clin Med, 15

Ancient genomic linkage of α-globin and Nprl3 couples metabolism with erythropoiesis.

Preston AE. et al, (2025), Nat Commun, 16

Author Correction: The α-globin super-enhancer acts in an orientation-dependent manner.

Kassouf MT. et al, (2025), Nat Commun, 16

The α-globin super-enhancer acts in an orientation-dependent manner.

Kassouf MT. et al, (2025), Nat Commun, 16

Erythropoiesis in the human

Higgs DR. et al, (2025), 43 - 55

Hemoglobin Bart's hydrops fetalis: charting the past and envisioning the future.

Amid A. et al, (2024), Blood, 144, 822 - 833

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.

Harteveld CL. et al, (2024), Int J Mol Sci, 25

Super-enhancers include classical enhancers and facilitators to fully activate gene expression.

Blayney JW. et al, (2023), Cell, 186, 5826 - 5839.e18

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome Med, 15

RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

Martell DJ. et al, (2023), Dev Cell, 58, 2112 - 2127.e4

The incredible ULK improves β-thalassemia.

Babbs C., (2023), Blood, 142, 862 - 863

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.

Tillotson R. et al, (2023), Hum Mol Genet, 32, 2485 - 2501

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

Tillotson R. et al, (2023)

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