Nick D L Owens
Overview
Explore the profile of Nick D L Owens including associated specialties, affiliations and a list of published articles.
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23
Citations
601
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Recent Articles
1.
Bennett J, Saint-Martin C, Neumann B, Mannisto J, Houghton J, Empting S, et al.
Genome Med
. 2025 Mar;
17(1):17.
PMID: 40033430
Background: We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism. These variants lead to a...
2.
Kostiuk V, Kabir R, Levangie K, Empke S, Morgan K, Owens N, et al.
Development
. 2025 Jan;
152(2).
PMID: 39791357
Emerging evidence suggests that the nuclear pore complex can have unique compositions and distinct nucleoporin functions in different cells. Here, we show that Nup107, a key component of the NPC...
3.
Stankovic S, Shekari S, Huang Q, Gardner E, Ivarsdottir E, Owens N, et al.
Nature
. 2024 Sep;
633(8030):608-614.
PMID: 39261734
Human genetic studies of common variants have provided substantial insight into the biological mechanisms that govern ovarian ageing. Here we report analyses of rare protein-coding variants in 106,973 women from...
4.
MacCalman A, De Franco E, Franklin A, Flaxman C, Richardson S, Murrall K, et al.
BMC Genomics
. 2024 Jun;
25(1):553.
PMID: 38831310
Development of the human pancreas requires the precise temporal control of gene expression via epigenetic mechanisms and the binding of key transcription factors. We quantified genome-wide patterns of DNA methylation...
5.
Laver T, Wakeling M, Caswell R, Bunce B, Yau D, Mannisto J, et al.
Eur J Hum Genet
. 2024 Apr;
32(7):813-818.
PMID: 38605124
Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the known...
6.
De Franco E, Owens N, Montaser H, Wakeling M, Saarimaki-Vire J, Triantou A, et al.
Nat Genet
. 2023 Nov;
55(12):2075-2081.
PMID: 37973953
Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report the identification of homozygous loss-of-function variants...
7.
Sempou E, Kostiuk V, Zhu J, Guerra M, Tyan L, Hwang W, et al.
Nat Commun
. 2023 Jun;
14(1):3264.
PMID: 37277326
No abstract available.
8.
Sempou E, Kostiuk V, Zhu J, Guerra M, Tyan L, Hwang W, et al.
Nat Commun
. 2022 Nov;
13(1):6681.
PMID: 36335122
Transitioning from pluripotency to differentiated cell fates is fundamental to both embryonic development and adult tissue homeostasis. Improving our understanding of this transition would facilitate our ability to manipulate pluripotent...
9.
Wakeling M, Owens N, Hopkinson J, Johnson M, Houghton J, Dastamani A, et al.
Nat Genet
. 2022 Nov;
54(11):1615-1620.
PMID: 36333503
Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function. This silencing is largely controlled by non-coding elements, and their...
10.
Coux R, Owens N, Navarro P
Transcription
. 2020 Oct;
11(5):236-240.
PMID: 33054514
Chromatin accessibility is generally perceived as a common property of active regulatory elements where transcription factors are recruited via DNA-specific interactions and other physico-chemical properties to regulate gene transcription. Recent...