Examining the role of the surfactant family member SFTA3 in interneuron specification

Chen, Christopher Y.; Anderson, Nickesha C.; Becker, Sandy; Schicht, Martin; Stoddard, Christopher; Bräuer, Lars; Paulsen, Friedrich; Grabel, Laura

doi:10.1371/journal.pone.0198703

Cited by 3 publications

(2 citation statements)

References 31 publications

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“…The protein encoded by this gene is an anion exchanger mediating bicarbonate, chloride, sulfate and oxalate transport. Thirdly, SFTA3, a surfactant protein which is overexpressed both in adult and fetal thyroids, was recently found to be mutated in patients presenting hypothyroidism (Chen et al, 2018). Fourthly, another coregulated gene in our fetal and AT tissues, GLIS3, displays mutations responsible for primary CH and diabetes (Rurale et al, 2018;Scoville et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

Transcriptomic Signature of Human Embryonic Thyroid Reveals Transition From Differentiation to Functional Maturation

Dom

Dmitriev

Lambot³

et al. 2021

Front. Cell Dev. Biol.

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The human thyroid gland acquires a differentiation program as early as weeks 3–4 of embryonic development. The onset of functional differentiation, which manifests by the appearance of colloid in thyroid follicles, takes place during gestation weeks 10–11. By 12–13 weeks functional differentiation is accomplished and the thyroid is capable of producing thyroid hormones although at a low level. During maturation, thyroid hormones yield increases and physiological mechanisms of thyroid hormone synthesis regulation are established. In the present work we traced the process of thyroid functional differentiation and maturation in the course of human development by performing transcriptomic analysis of human thyroids covering the period of gestation weeks 7–11 and comparing it to adult human thyroid. We obtained specific transcriptomic signatures of embryonic and adult human thyroids by comparing them to non-thyroid tissues from human embryos and adults. We defined a non-TSH (thyroid stimulating hormone) dependent transition from differentiation to maturation of thyroid. The study also sought to shed light on possible factors that could replace TSH, which is absent in this window of gestational age, to trigger transition to the emergence of thyroid function. We propose a list of possible genes that may also be involved in abnormalities in thyroid differentiation and/or maturation, hence leading to congenital hypothyroidism. To our knowledge, this study represent the first transcriptomic analysis of human embryonic thyroid and its comparison to adult thyroid.

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Section: Discussionmentioning

confidence: 99%

Transcriptomic Signature of Human Embryonic Thyroid Reveals Transition From Differentiation to Functional Maturation

Dom

Dmitriev

Lambot³

et al. 2021

Front. Cell Dev. Biol.

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“…In addition, GRHL1 is a known regulator of epithelial development whose downregulation may compromise maintenance of the epithelial layer [99][100][101] . Interestingly, GRHL1 downregulates the surfactant gene SFTA3, implicated in immune host defense and regulation of alveolar surface tension 102 , in diseased epithelial cells (Fig. 5d), which likely undermines pulmonary epithelial function.…”

Section: Molecular Characteristics Of Parenchymal Cells In Lungs Of P...mentioning

confidence: 99%

A single-cell transcriptomic atlas of the lungs of patients with pulmonary tuberculosis

Sun,

Li,

Ping

et al. 2024

Preprint

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Patients with a history of mycobacterium tuberculosis infection commonly acquire irreversible and often progressive pulmonary defects. Here, we sought to understand, at a high resolution, the mechanisms underlying structural changes and functional impairments in lungs following tuberculosis (TB). To this end, we generated the first single-cell transcriptomic landscape of the human lung after TB infection, and deciphered disease-associated cell type-specific molecular profiles, including hyperinflammation, cell death, fibrosis, and cellular senescence, a thus far unappreciated molecular event of TB pathology. We identified prominent loss of pulmonary endothelial cells and augmented pulmonary vascular inflammation as hallmarks of disability in the post-TB lung. Mechanistically, we found that blunted FOXO3 and overactivated Thrombin-THBD signaling exacerbate vascular inflammation and cellular senescence in pulmonary endothelial cells. Overall, our work depicts a comprehensive single-cell transcriptomic atlas of pulmonary TB and provides potential therapeutic targets to relieve the pulmonary impairment after TB.

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The PER3rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria

Chen

Yang

et al. 2023

J Mol Med

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Dyschromatosis universalis hereditaria (DUH) is a pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body. Although Sterile Alpha motif-and SH3 domain-containing protein 1 ( SASH1 ) and ATP-binding cassette subfamily B, member 6 ( ABCB6 ) have been identi ed as causative genes for this disorder, some cases involve unknown pathogenic genes. In this study, whole-exome sequencing, data analysis and Sanger sequencing were utilized for a fourgeneration extended Chinese family with DUH. A single-nucleotide polymorphism (SNP) (c. 517C>T (p. P173S ), rs772027021) variant in exon 5 of Period Circadian Regulator 3 ( PER3 ) (NM_001289861) was detected in each affected individual of the DUH family; the c. 517C>T SNP of PER3 ( PER3 rs772027021 SNP) and a novel mutation in exon 14 of SASH1 (c. 1574C>G (p.T525R)) were both found in the proband. The affected individuals carrying PER3 rs772027021 SNP in this family demonstrated mild pigmented phenotypes compared to those of the proband carrying PER3 rs772027021 SNP and SASH1 T525R mutation. Increased melanin synthesis was induced by PER3 rs772027021 SNP in the melanocytes of affected epithelial tissues. Mutated SASH1 or PER3 rs772027021 SNP alone or cooperation of mutation of SASH1 and PER3 rs772027021 SNP synergistically led to increased melanin synthesis and enhanced proliferation of melanoma cells in vitro. We also phenotypically characterized a commercially available zebra sh mutant line harboring the PER3 rs772027021 SNP to induce melanocyte proliferation in vivo . Our results are the rst to reveal that this PER3 SNP may be pathogenic for a novel DUH subtype with mild hyperpigmented and/or hypopigmented phenotypes and that mutation of SASH1 and PER3 cooperatively promotes hyperpigmentation phenotypes.

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Examining the role of the surfactant family member SFTA3 in interneuron specification

Cited by 3 publications

References 31 publications

Transcriptomic Signature of Human Embryonic Thyroid Reveals Transition From Differentiation to Functional Maturation

Transcriptomic Signature of Human Embryonic Thyroid Reveals Transition From Differentiation to Functional Maturation

A single-cell transcriptomic atlas of the lungs of patients with pulmonary tuberculosis

The PER3rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria

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