Congenital athymia: genetic etiologies, clinical manifestations, diagnosis, and treatment

C Collins, E Sharpe, A Silber, S Kulke… - Journal of Clinical …, 2021 - Springer
Congenital athymia is an ultra-rare disease characterized by the absence of a functioning
thymus. It is associated with several genetic and syndromic disorders including FOXN1 …

T-cell immunodeficiencies with congenital alterations of thymic development: genes implicated and differential immunological and clinical features

G Giardino, C Borzacchiello, M De Luca… - Frontiers in …, 2020 - frontiersin.org
Combined Immunodeficiencies (CID) are rare congenital disorders characterized by
defective T-cell development that may be associated with B-and NK-cell deficiency. They are …

Inborn errors of immunity associated with defects of thymic development

F Pala, LD Notarangelo… - Pediatric allergy and …, 2022 - Wiley Online Library
The main function of the thymus is to support the establishment of a wide repertoire of T
lymphocytes capable of eliminating foreign pathogens, yet tolerant to self‐antigens …

Inborn errors of thymic stromal cell development and function

AY Kreins, S Maio, F Dhalla - Seminars in Immunopathology, 2021 - Springer
As the primary site for T cell development, the thymus is responsible for the production and
selection of a functional, yet self-tolerant T cell repertoire. This critically depends on thymic …

Lympho-hematopoietic microenvironments and fish immune system

AG Zapata - Biology, 2022 - mdpi.com
Simple Summary Teleost fish, the most abundant group of vertebrates, represent an
excellent tool to establish possible correlations between the histological organization of their …

Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome

Y Sun, SR Kumar, CED Wong, Z Tian, H Bai… - Frontiers in Cell and …, 2022 - frontiersin.org
Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a
sporadically occurring disease causing craniofacial and other abnormalities due to …

Immunotoxicity and transcriptome analysis of zebrafish embryos exposure to Nitazoxanide

W Lu, F Yang, Y Meng, J An, B Hu, S Jian… - Fish & Shellfish …, 2023 - Elsevier
Nitazoxanide (NTZ) is a broad-spectrum immunomodulatory drug, and little information is
about the immunotoxicity of aquatic organisms induced by NTZ. In the present study …

Chromatin remodeller CHD7 is required for GABAergic neuron development by promoting PAQR3 expression

P Jamadagni, M Breuer, K Schmeisser, T Cardinal… - EMBO …, 2021 - embopress.org
Mutations in the chromatin remodeller‐coding gene CHD7 cause CHARGE syndrome (CS).
CS features include moderate to severe neurological and behavioural problems, clinically …

Eyes on CHARGE syndrome: Roles of CHD7 in ocular development

LA Krueger, AC Morris - Frontiers in Cell and Developmental Biology, 2022 - frontiersin.org
The development of the vertebrate visual system involves complex morphogenetic
interactions of cells derived from multiple embryonic lineages. Disruptions in this process …

Toxic and teratogenic effects of prenatal alcohol exposure on fetal development, adolescence, and adulthood

DD Chung, MR Pinson, LS Bhenderu, MS Lai… - International journal of …, 2021 - mdpi.com
Prenatal alcohol exposure (PAE) can have immediate and long-lasting toxic and teratogenic
effects on an individual's development and health. As a toxicant, alcohol can lead to a …