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Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders

Scientific reports, 2021-03, Vol.11 (1), p.6602-6602, Article 6602

2021

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When is a target not a target?

eLife, 2019-09, Vol.8

2019

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Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

The Journal of clinical investigation, 2013-07, Vol.123 (7), p.3037-3041

2013

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Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function

PloS one, 2014-01, Vol.9 (1), p.e85768-e85768

2014

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NanoFIRE: A NanoLuciferase and Fluorescent Integrated Reporter Element for Robust and Sensitive Investigation of HIF and Other Signalling Pathways

Biomolecules (Basel, Switzerland), 2023-10, Vol.13 (10), p.1545

2023

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bHLH-PAS proteins in cancer

Nature reviews. Cancer, 2013-12, Vol.13 (12), p.827

2013

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Inducible and reversible lentiviral and Recombination Mediated Cassette Exchange (RMCE) systems for controlling gene expression

PloS one, 2015-03, Vol.10 (3), p.e0116373-e0116373

2015

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HIF has Biff – Crosstalk between HIF1a and the family of bHLH/PAS proteins

Experimental cell research, 2017-07, Vol.356 (2), p.141-145

2017

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Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

Molecular metabolism (Germany), 2017-11, Vol.6 (11), p.1419-1428

2017

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Progesterone receptor mediates ovulatory transcription through RUNX transcription factor interactions and chromatin remodelling

Nucleic acids research, 2023-07, Vol.51 (12), p.5981

2023

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Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes

Biochemical journal, 2022-07, Vol.479 (13), p.1441-1454

2022

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Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity

The journal of clinical endocrinology and metabolism, 2020-01, Vol.105 (1), p.355-361

2020

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Regulation of the neuronal transcription factor NPAS4 by REST and microRNAs

Biochimica et biophysica acta, 2014-01, Vol.1839 (1), p.13-24

2014

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Identification of two novel loss‐of‐function SIM1 mutations in two overweight children with developmental delay

Obesity (Silver Spring, Md.), 2014-12, Vol.22 (12), p.2621-2624

2014

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Human Variants in the Neuronal Basic Helix-Loop-Helix/Per-Arnt-Sim

PloS one, 2014-01, Vol.9 (1), p.e85768

2014

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Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay: SIM1 Mutations and Developmental Delay

Obesity (Silver Spring, Md.), 2014-12, Vol.22 (12), p.2621-2624

2014

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A Multiwavelength View of the Rapidly Evolving SN 2018ivc: An Analog of SN IIb 1993J but Powered Primarily by Circumstellar Interaction

The Astrophysical journal, 2023-01, Vol.942 (1), p.17

2023

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The Blue Supergiant Progenitor of the Supernova Imposter AT 2019krl

The Astrophysical journal, 2021-08, Vol.917 (2), p.63

2021

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Effect of Dexmedetomidine Added to Standard Care on Ventilator-Free Time in Patients With Agitated Delirium: A Randomized Clinical Trial

JAMA : the journal of the American Medical Association, 2016-04, Vol.315 (14), p.1460

2016

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Fast and not-so-furious: Case study of the fast and faint Type IIb SN 2021bxu

Monthly notices of the Royal Astronomical Society, 2023-07, Vol.524 (1), p.767-785

2023

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Heparin-Induced Thrombocytopenia in Medical Surgical Critical Illness

Chest, 2013-09, Vol.144 (3), p.848-858

2013

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A Multicenter Randomized Trial of Atorvastatin Therapy in Intensive Care Patients with Severe Sepsis

American journal of respiratory and critical care medicine, 2013-04, Vol.187 (7), p.743-750

2013

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Core Outcome Measures for Trials in People With Coronavirus Disease 2019: Respiratory Failure, Multiorgan Failure, Shortness of Breath, and Recovery

Critical care medicine, 2021-03, Vol.49 (3), p.503

2021

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The clinical relevance of oliguria in the critically ill patient: analysis of a large observational database

Critical care (London, England), 2020-04, Vol.24 (1), p.171-14, Article 171

2020

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SN 2017dio: A Type-Ic Supernova Exploding in a Hydrogen-rich Circumstellar Medium∗ ∗ Based on observations made with the NOT, operated by the Nordic Optical Telescope Scientific Association at the Observatorio del Roque de los Muchachos, La Palma, Spain, of the Instituto de Astrofisica de Canarias. This work is based (in part) on observations collected at the European Organisation for Astronomical Research in the Southern Hemisphere, Chile as part of PESSTO, (the Public ESO Spectroscopic Survey

Astrophysical journal. Letters, 2018-02, Vol.854 (1)

2018

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Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders

When is a target not a target?

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features

Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function

NanoFIRE: A NanoLuciferase and Fluorescent Integrated Reporter Element for Robust and Sensitive Investigation of HIF and Other Signalling Pathways

bHLH-PAS proteins in cancer

Inducible and reversible lentiviral and Recombination Mediated Cassette Exchange (RMCE) systems for controlling gene expression

HIF has Biff – Crosstalk between HIF1a and the family of bHLH/PAS proteins

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

Progesterone receptor mediates ovulatory transcription through RUNX transcription factor interactions and chromatin remodelling

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity

Regulation of the neuronal transcription factor NPAS4 by REST and microRNAs

Identification of two novel loss‐of‐function SIM1 mutations in two overweight children with developmental delay

Human Variants in the Neuronal Basic Helix-Loop-Helix/Per-Arnt-Sim

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay: SIM1 Mutations and Developmental Delay

A Multiwavelength View of the Rapidly Evolving SN 2018ivc: An Analog of SN IIb 1993J but Powered Primarily by Circumstellar Interaction

The Blue Supergiant Progenitor of the Supernova Imposter AT 2019krl

Effect of Dexmedetomidine Added to Standard Care on Ventilator-Free Time in Patients With Agitated Delirium: A Randomized Clinical Trial

Fast and not-so-furious: Case study of the fast and faint Type IIb SN 2021bxu

Heparin-Induced Thrombocytopenia in Medical Surgical Critical Illness

A Multicenter Randomized Trial of Atorvastatin Therapy in Intensive Care Patients with Severe Sepsis

Core Outcome Measures for Trials in People With Coronavirus Disease 2019: Respiratory Failure, Multiorgan Failure, Shortness of Breath, and Recovery

The clinical relevance of oliguria in the critically ill patient: analysis of a large observational database

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