James Kaufman-Cook

OC5.4 - ECE_3532 - Constitutive active expression of ZFP36L1 in anterior pituitary SOX2+ stem cells results in pituitary hypoplasia and a failure of terminal differentiation via a non-cell autonomous mechanism

Olivia Sherwin, Saba Manshaei, Thea Willis, Hiba Hamdi et autres

Abstract SOX2+ pituitary stem cells (PSCs) are a critical source of signalling cues during pituitary development, yet the molecular orchestrators of this paracrine environment remain poorly defined. In this study, we identify ZFP36L1 as a key regulator of secreted factor expression within …

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OC5.6 - ECE_2863 - Defining the YAP/TEAD–SOX2–NFI network underlying pituitary stem cell maintenance and differentiation

Miriam Vazquez Segoviano, Bence Kover, Emily Lodge, James Kaufman-Cook et autres

Abstract Resident stem cells in the anterior pituitary contribute to all hormone-secreting cell types throughout life and are essential for maintaining proper gland function. While pituitary stem cells (PSCs) are highly active during early postnatal stages, they become largely quiescent in adulthood, …

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OC3.6 - ECE_3431 - PitNET-associated SOX2+ pituitary stem cells: a transcriptomic landscape of 1534 patients

Bence Kover, Ian Kruk, James Kaufman-Cook, Yasmine Kemkem et autres

Abstract The anterior pituitary gland contains SOX2+ pituitary stem cells (PSCs) that persist into adulthood. The role of PSCs remains obscure with regards to the initiation and maintenance of pituitary neuroendocrine tumours (PitNETs). To quantify the abundance and gene expression profile of …

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RC5.6 - ECE_2859 - Mitochondrial metabolic dependencies shape anterior pituitary homeostasis and disease

James Kaufman-Cook, Yasmine Kemkem, Miriam Vazquez Segoviano, Olivia Sherwin et autres

Abstract Cell metabolism is fundamental to anterior pituitary (AP) function, enabling endocrine cells to meet the energetic and biosynthetic demands of hormone production and secretion. While pituitary cell types are presumed to rely on distinct metabolic pathways to support hormone synthesis and …

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OC7.6 - ECE_2870 - SOX2-positive cells in pheochromocytoma and paraganglioma: implications for tumour initiation and maintenance

Yasmine Kemkem, Mark Quinn, Bence Kover, Alice Santambrogio et autres

Abstract Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumours which arise from neural crest–derived chromaffin cells of the adrenal medulla and extra-adrenal paraganglia, respectively. Metastatic disease occurs in up to 40% of PPGLs and is associated with a median overall survival …

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Consensus Pituitary Atlas, a scalable resource for annotation, novel marker discovery, and analyses in mouse pituitary gland research

Bence Kövér, Thea L. Willis, Olivia Sherwin, James Kaufman-Cook et autres

Previous single-cell profiling studies of the pituitary gland have yielded minimally reproducible insights due to their low statistical power and methodological inconsistencies. To address this, we generate the uniformly pre-processed Consensus Pituitary Atlas (CPA) using all 283 existing mouse pituitary single-cell datasets …

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The role of stem cells in pituitary tumour formation

James Kaufman-Cook, Bence Kövér, Cynthia L. Andoniadou

Pituitary tumours are intracranial neoplasms that pose significant clinical challenges due to their potential for recurrence, therapeutic resistance and resultant endocrine dysfunction and mass effects. In the normal anterior pituitary, resident pituitary stem cells (PSCs) contribute to tissue homeostasis and cellular turnover. …

Phaeochromocytomas and paragangliomas harbour tumour-initiating SOX2+ stem cells

Yasmine Kemkem, Mark Quinn, Bence Kövér, Alice Santambrogio et autres

Phaeochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumours that arise in the neural crest (NC)-derived adrenal medulla and the paraganglia, respectively. Approximately 10-15% of patients with PCCs and 35-40% with PGLs go on to develop metastatic disease, leading to a reported …

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Electronic Pituitary Omics (epitome) platform

Bence Kövér, James Kaufman-Cook, Olivia Sherwin, Miriam Vazquez Segoviano et autres

This release accomodates changes since the initial pre-print version. New datasets are now displayed under version v_0.02.

Consensus Pituitary Atlas, a scalable resource for annotation, novel marker discovery and analyses in pituitary gland research

Bence Kövér, Thea L. Willis, Olivia Sherwin, James Kaufman-Cook et autres

Summary Previous single-cell profiling studies of the pituitary gland have yielded minimally reproducible insights largely due to their low statistical power and methodological inconsistencies. To address this problem, we generated a uniformly pre-processed Consensus Pituitary Atlas (CPA) using all existing mouse pituitary …

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Genome-wide association meta-regression identifies stem cell lineage orchestration as a key driver of acne risk

Jessye M. Maxwell, Brittany L. Mitchell, Xinyi Du-Harpur, Luba Milena Pardo et autres

Abstract Over 85% of the population experience acne at some point in their lives, with its severity spanning a quantitative spectrum, from mild, transient outbreaks to more persistent, severe forms of the condition. Moderate to severe disease poses a substantial global burden …

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O10 Acne polygenic risk score derived from genome-wide association metaregression enables prediction of severity

Xinyi Du-Harpur, Jessye M. Maxwell, Brittany L. Mitchell, Luba Milena Pardo et autres

Abstract Acne vulgaris is highly prevalent, with 85% of the population experiencing it at some point in their lives. Disease severity spans a quantitative spectrum, from mild, transient outbreaks to more persistent, severe forms of the condition. Moderate-to-severe disease poses a substantial …

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