Sec23b - Neonatal Disorders

Relevant Publications

A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.

Issue Release: 2025

Congenital dyserythropoietic anemia type II-A rare case report.

Issue Release: 2024

Genetic predisposition to differentiated thyroid cancer among Polish population.

Issue Release: 2024

The proximity interactome of PML isoforms I and II under fatty acid stress.

Issue Release: 2024

Identification of a novel splice variant in gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert\'s syndrome.

Issue Release: 2024

Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias.

Issue Release: 2024

Congenital Dyserythropoietic Anaemia Type II with SEC23B Mutation in Adults: A Case Series.

Issue Release: 2024

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population.

Issue Release: 2023

The Deubiquitinase OTUD1 Suppresses Secretory Neutrophil Polarization And Ameliorates Immunopathology of Periodontitis.

Issue Release: 2023

Organelle-selective click labeling coupled with flow cytometry allows pooled CRISPR screening of genes involved in phosphatidylcholine metabolism.

Issue Release: 2023

New Cases and Mutations in Gene Causing Congenital Dyserythropoietic Anemia Type II.

Issue Release: 2023

Gene expression networks and functionally enriched pathways involved in the response of domestic chicken to acute heat stress.

Issue Release: 2023

Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature.

Issue Release: 2023

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.

Issue Release: 2022

Regulation of the COPII secretory machinery via focal adhesions and extracellular matrix signaling.

Issue Release: 2022

Proteome analysis of nuclear Lipid-Associated Promyelocytic Leukemia (PML) Structures (LAPS) Using Biotin Proximity Labelling.

Issue Release: 2022

The unfolded protein response transducer IRE1α promotes reticulophagy in podocytes.

Issue Release: 2022

Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium.

Issue Release: 2022

Conserved exchange of paralog proteins during neuronal differentiation.

Issue Release: 2022

[Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia].

Issue Release: 2021

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