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 …
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 …
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 …
lymphocytes capable of eliminating foreign pathogens, yet tolerant to self‐antigens …
Inborn errors of thymic stromal cell development and function
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 …
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 …
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 …
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 …
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
Mutations in the chromatin remodeller‐coding gene CHD7 cause CHARGE syndrome (CS).
CS features include moderate to severe neurological and behavioural problems, clinically …
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 …
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 …
effects on an individual's development and health. As a toxicant, alcohol can lead to a …