John C. Achermann

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1 :: ZNF341 ‐Associated Cancer

Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson et autres

A lethal round-cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from …

gb (code pays fourni par la source)

A clinical, histopathological, and molecular characterization of pediatric MN1::ZNF341-associated cancer

Thomas R W Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson et autres

A lethal round-cell malignancy with an MN1::ZNF341 fusion has recently been reported. Here, using single-cell RNA sequencing data derived from monozygotic twins, we find the tumor to be transcriptionally distinct from neuroblastoma. Instead, it exhibits steroidogenic differentiation. These data, in combination with …

A clinical, histopathological, and molecular characterization of pediatric MN1::ZNF341-associated cancer

Thomas R W Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson et autres

A lethal round-cell malignancy with an MN1::ZNF341 fusion has recently been reported. Here, using single-cell RNA sequencing data derived from monozygotic twins, we find the tumor to be transcriptionally distinct from neuroblastoma. Instead, it exhibits steroidogenic differentiation. These data, in combination with …

EndoCompass Project: Research Roadmap for Adrenal and Cardiovascular Endocrinology

Eystein S. Husebye, Guillaume Assié, Nils Krone, John C. Achermann et autres

BACKGROUND: Endocrine science remains underrepresented in European Union research programmes despite the fundamental role of hormone health in human well-being. Analysis of the CORDIS database reveals a persistent gap between the societal impact of endocrine disorders and their research prioritization. At national …

no, fr, gb, de, es, nl, ch, hr, it, fi, gr (code pays fourni par la source)

The Human Fetal Adrenal Gland – A Review of its Development and Function

Harshini Katugampola, John C. Achermann

gb (code pays fourni par la source)

Characterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution

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

Abstract Context Turner syndrome (TS) is the most common genetic cause of premature (primary) ovarian insufficiency (POI). Human fetal 45,X ovaries demonstrate marked apoptosis by 15 to 20 weeks post conception (wpc), likely partly driven by X-chromosome haploinsufficiency. However, the genomic drivers …

in, gb (code pays fourni par la source)

EndoCompass project: research roadmap for adrenal and cardiovascular endocrinology

Eystein S. Husebye, Guillaume Assié, Nils Krone, John C. Achermann et autres

BACKGROUND: Endocrine science remains underrepresented in European Union research programmes despite the fundamental role of hormone health in human well-being. Analysis of the CORDIS database reveals a persistent gap between the societal impact of endocrine disorders and their research prioritization. At national …

no, fr, gb, in, de, es, nl, ch, hr, by, it, fi, gr (code pays fourni par la source)

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

The complex genetic mechanisms underlying human ovary development can give rise to clinical phenotypes if disrupted, such as Primary (or Premature) Ovarian Insufficiency and Differences of Sex Development. We combine single-nuclei RNA sequencing, bulk RNA sequencing, and micro-focus computed tomography to elucidate …

in, gb (code pays fourni par la source)

Transcriptomic sex differences in early human fetal brain development

Federica Buonocore, Jenifer P. Suntharalingham, Olumide Ogunbiyi, Aragorn Jones et autres

The influence of sex chromosomes and sex hormones on early human brain development is poorly understood. We therefore undertook transcriptomic analysis of 46,XY and 46,XX human brain cortex samples (n = 64) at four different time points between 7.5 and 17 weeks …

in, gb (code pays fourni par la source)

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency

Sinead McGlacken‐Byrne, Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore et autres

CONTEXT: Establishing the genetic basis of early-onset primary ovarian insufficiency (EO-POI, <25 years) is important, but defining variant pathogenicity is challenging. OBJECTIVE: We aimed to elucidate the genetic architecture of EO-POI in a unique, large cohort. Young women with EO-POI (n = …

gb (code pays fourni par la source)

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) …

gb, in (code pays fourni par la source)

Low-level chromosomal mosaicism does not explain the spontaneous menarche seen in some women with 45,X turner syndrome

Sinead McGlacken‐Byrne, Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore et autres