Tony Brooks

p63 regulates stem cell maintenance and age-associated functional decline in human airway basal cells

Andrew G. Farr, Jessica C. Orr, Buthainah M Ahmed, Léa Hascher et autres

Abstract Age is a principal risk factor for chronic respiratory diseases. During aging, the airway epithelium undergoes structural and functional changes, including a reduced regenerative capacity. Basal cells act as stem/progenitor cells within the airway epithelium and are known to acquire age-dependent …

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The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

Jenifer P. Suntharalingham, Ignacio del Valle, Federica Buonocore, Sinead McGlacken‐Byrne et autres

Monosomy X (45,X) is associated with Turner syndrome and pregnancy loss in humans, but the underlying mechanisms remain unclear. We therefore undertook an exploratory study of the transcriptomic landscape of clinically relevant human fetal 45,X tissues (including pancreas, liver, kidney, skin, placenta) …

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The tumour microenvironment of pilocytic astrocytoma evolves over time via enrichment for microglia

T. J. Stone, Jessica C. Pickles, Olumide Ogunbiyi, Shireena A. Yasin et autres

Pilocytic astrocytoma (PA) is the commonest low-grade tumour affecting children and is frequently experienced as a chronic disease associated with extended treatment, periods of regrowth, and long-term disability. This contrasts with the view of PA as a benign tumour with positive clinical …

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290 (PB278): Modulating immune response in cholangiocarcinoma: targeting sulfatase-2 for therapeutic intervention

Tony Brooks, Nicola Campbell, Lewis R. Roberts

Single-nucleus rna-sequencing reveals novel potential mechanisms of ovarian insufficiency in 45,x turner syndrome

Sinead McGlacken‐Byrne, Valle Ignacio Del, Theodoros Xenakis, Jenifer P. Suntharalingham et autres

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

Jenifer P. Suntharalingham, Ignacio del Valle, Federica Buonocore, Sinead McGlacken‐Byrne et autres

ABSTRACT Monosomy X (45,X) is associated with Turner syndrome and pregnancy loss in humans, but the underlying mechanisms remain unclear. We therefore analyzed the transcriptomic landscape of clinically relevant human fetal 45,X tissues (including pancreas, liver, kidney, skin, placenta) with matched 46,XX …

in, gb (code pays fourni par la source)

Single-nucleus RNA-sequencing reveals novel potential mechanisms of ovarian insufficiency in 45,X Turner Syndrome

Sinead McGlacken‐Byrne, Ignacio del Valle, Theodoros Xenakis, Jenifer P. Suntharalingham et autres

Study question Can single-nuclei and bulk RNA sequencing technologies be used to elucidate novel mechanisms of ovarian insufficiency in Turner Syndrome (TS)? Summary answer Using single-nucleus and bulk RNA sequencing approaches, we identified novel potential pathogenic mechanisms underlying ovarian insufficiency in TS …

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Mapping the anatomical and transcriptional landscape of early human fetal ovary development

Sinead McGlacken‐Byrne, Ignacio del Valle, Theodoros Xenakis, Ian C. Simcock et autres

Abstract The complex genetic mechanisms underlying human ovary development can give rise to clinical phenotypes if disrupted, such as Primary Ovarian Insufficiency and Differences of Sex Development. Through a clinically-focused lens, we combine single-nuclei RNA sequencing, bulk RNA sequencing, and micro-focus computed …

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Analysis of genetic variability in Turner syndrome linked to long-term clinical features

Jenifer P. Suntharalingham, Miho Ishida, Antoinette Cameron‐Pimblett, Sinead McGlacken‐Byrne et autres

Background Women with Turner syndrome (TS) (45,X and related karyotypes) have an increased prevalence of conditions such as diabetes mellitus, obesity, hypothyroidism, autoimmunity, hypertension, and congenital cardiovascular anomalies (CCA). Whilst the risk of developing these co-morbidities may be partly related to haploinsufficiency …

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An integrated single-cell analysis of human adrenal cortex development

Ignacio del Valle, Matthew D. Young, Gerda Kildisiute, Olumide Ogunbiyi et autres

The adrenal glands synthesize and release essential steroid hormones such as cortisol and aldosterone, but many aspects of human adrenal gland development are not well understood. Here, we combined single-cell and bulk RNA sequencing, spatial transcriptomics, IHC, and micro-focus computed tomography to …

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A cell atlas of human adrenal cortex development and disease

Ignacio del Valle, Matthew D. Young, Gerda Kildisiute, Olumide Ogunbiyi et autres

Abstract The adrenal glands synthesize and release essential steroid hormones such as cortisol and aldosterone, but the mechanisms underlying human adrenal gland development are not fully understood. Here, we combined single-cell and bulk RNA-sequencing, spatial transcriptomics, immunohistochemistry and micro-focus computed tomography to …

in, gb (code pays fourni par la source)

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

Sinead McGlacken‐Byrne, Ignacio del Valle, Polona Le Quesne Stabej, Laura Bellutti et autres

Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined genetic cause, with most implicated genes relating to biological processes involved in early fetal ovary development and function. Recently, Ythdc2, …

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