Maarten P G Massink
Overview
Explore the profile of Maarten P G Massink including associated specialties, affiliations and a list of published articles.
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18
Citations
413
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Recent Articles
1.
Groen K, van der Vis J, van Batenburg A, Kazemier K, de Bruijn M, Stadhouders R, et al.
ERJ Open Res
. 2024 Feb;
10(1).
PMID: 38375433
Introduction: Pulmonary fibrosis is a severe disease which can be familial. A genetic cause can only be found in ∼40% of families. Searching for shared novel genetic variants may aid...
2.
Muffels I, Schene I, Rehmann H, Massink M, van der Wal M, Bauder C, et al.
Am J Hum Genet
. 2023 Jan;
110(1):146-160.
PMID: 36608681
Neddylation has been implicated in various cellular pathways and in the pathophysiology of numerous diseases. We identified four individuals with bi-allelic variants in NAE1, which encodes the neddylation E1 enzyme....
3.
Muffels I, Wiame E, Fuchs S, Massink M, Rehmann H, Musch J, et al.
Brain Commun
. 2021 Nov;
3(4):fcab256.
PMID: 34805998
The recent identification of NAA80/NAT6 as the enzyme that acetylates actins generated new insight into the process of post-translational actin modifications; however, the role of NAA80 in human physiology and...
4.
Reichert S, Li R, Turner S, van Jaarsveld R, Massink M, van den Boogaard M, et al.
Clin Genet
. 2020 Apr;
98(1):91-98.
PMID: 32335897
Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have...
5.
Hammerl D, Massink M, Smid M, van Deurzen C, Meijers-Heijboer H, Waisfisz Q, et al.
Clin Cancer Res
. 2019 Oct;
26(2):505-517.
PMID: 31649042
Purpose: In breast cancer, response rates to immune therapies are generally low and differ significantly across molecular subtypes, urging a better understanding of immunogenicity and immune evasion. Experimental Design: We...
6.
Hoffman T, van der Vis J, van der Smagt J, Massink M, Grutters J, van Moorsel C
Eur Respir J
. 2019 Sep;
54(6).
PMID: 31515401
No abstract available.
7.
Broekema M, Massink M, Donato C, de Ligt J, Schaarschmidt J, Borgman A, et al.
Mol Metab
. 2019 Jan;
20:115-127.
PMID: 30595551
Objective: The nuclear receptor PPARγ is the master regulator of adipocyte differentiation, distribution, and function. In addition, PPARγ induces terminal differentiation of several epithelial cell lineages, including colon epithelia. Loss-of-function...
8.
Broekema M, Massink M, de Ligt J, Stigter E, Monajemi H, de Ridder J, et al.
Front Physiol
. 2018 Oct;
9:1363.
PMID: 30319454
Genetic lipodystrophies are a group of rare syndromes associated with major metabolic complications - including severe insulin resistance, type 2 diabetes mellitus, and hypertriglyceridemia - which are classified according to...
9.
Kleinendorst L, Massink M, Cooiman M, Savas M, van der Baan-Slootweg O, Roelants R, et al.
J Med Genet
. 2018 Jul;
55(9):578-586.
PMID: 29970488
Background: Obesity is a global and severe health problem. Due to genetic heterogeneity, the identification of genetic defects in patients with obesity can be time consuming and costly. Therefore, we...
10.
van Rijn J, Ardy R, Kuloglu Z, Harter B, Van Haaften-Visser D, van der Doef H, et al.
Gastroenterology
. 2018 Apr;
155(1):130-143.e15.
PMID: 29604290
Background & Aims: Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1),...