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Showing 1 to 12 of 56 entries
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De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.

Case reports in genetics

Lo-A-Njoe S, van der Veken LT, Vermont C, Rafael-Croes L, Keizer V, Hochstenbach R, Knoers N, van Haelst MM.
PMID: 26942023
Case Rep Genet. 2016;2016:2861653. doi: 10.1155/2016/2861653. Epub 2016 Jan 31.

Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here...

Non-invasive sources of cells with primary cilia from pediatric and adult patients.

Cilia

Ajzenberg H, Slaats GG, Stokman MF, Arts HH, Logister I, Kroes HY, Renkema KY, van Haelst MM, Terhal PA, van Rooij IA, Keijzer-Veen MG, Knoers NV, Lilien MR, Jewett MA, Giles RH.
PMID: 26034581
Cilia. 2015 Jun 01;4:8. doi: 10.1186/s13630-015-0017-x. eCollection 2015.

BACKGROUND: Ciliopathies give rise to a multitude of organ-specific pathologies; obtaining relevant primary patient material is useful for both diagnostics and research. However, acquisition of primary ciliated cells from patients, particularly pediatric patients, presents multiple difficulties. Biopsies and blood...

Ciliary disturbances in syndromal and non-syndromal obesity.

Journal of pediatric genetics

de Vries TI, van Haelst MM.
PMID: 27625866
J Pediatr Genet. 2014 Jun;3(2):79-88. doi: 10.3233/PGE-14085.

Obesity is an increasing global health problem. Although it is mainly thought to be due to the changing obesogenic environment, the genetic contribution has been estimated between 40-70%. A number of genes have been identified that cause obesity in...

Connecting copper and cancer: from transition metal signalling to metalloplasia.

Nature reviews. Cancer

Ge EJ, Bush AI, Casini A, Cobine PA, Cross JR, DeNicola GM, Dou QP, Franz KJ, Gohil VM, Gupta S, Kaler SG, Lutsenko S, Mittal V, Petris MJ, Polishchuk R, Ralle M, Schilsky ML, Tonks NK, Vahdat LT, Van Aelst L, Xi D, Yuan P, Brady DC, Chang CJ.
PMID: 34764459
Nat Rev Cancer. 2021 Nov 11; doi: 10.1038/s41568-021-00417-2. Epub 2021 Nov 11.

Copper is an essential nutrient whose redox properties make it both beneficial and toxic to the cell. Recent progress in studying transition metal signalling has forged new links between researchers of different disciplines that can help translate basic research...

Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients.

Obesity surgery

Cooiman MI, Alsters SIM, Duquesnoy M, Hazebroek EJ, Meijers-Heijboer HJ, Chahal H, Le Beyec-Le Bihan J, Clément K, Soula H, Blakemore AI, Poitou C, van Haelst MM.
PMID: 34984630
Obes Surg. 2022 Jan 04; doi: 10.1007/s11695-021-05869-x. Epub 2022 Jan 04.

INTRODUCTION: Pathogenic heterozygous MC4R variants are associated with hyperphagia and variable degrees of obesity. Several research groups have reported short-term weight loss outcomes after bariatric surgery in a few patients with MC4R variants, but lack of longer-term data prevents...

Development and validation of a novel artificial intelligence driven tool for accurate mandibular canal segmentation on CBCT.

Journal of dentistry

Lahoud P, Diels S, Niclaes L, Van Aelst S, Willems H, Van Gerven A, Quirynen M, Jacobs R.
PMID: 34780873
J Dent. 2021 Nov 13;116:103891. doi: 10.1016/j.jdent.2021.103891. Epub 2021 Nov 13.

OBJECTIVES: The objective of this study is the development and validation of a novel artificial intelligence driven tool for fast and accurate mandibular canal segmentation on cone beam computed tomography (CBCT).METHODS: A total of 235 CBCT scans from dentate...

RNA biomarkers from proximal liquid biopsy for diagnosis of ovarian cancer.

Neoplasia (New York, N.Y.)

Hulstaert E, Levanon K, Morlion A, Van Aelst S, Christidis AA, Zamar R, Anckaert J, Verniers K, Bahar-Shany K, Sapoznik S, Vandesompele J, Mestdagh P.
PMID: 34998206
Neoplasia. 2022 Jan 05;24(2):155-164. doi: 10.1016/j.neo.2021.12.008. Epub 2022 Jan 05.

BACKGROUND: Most ovarian cancer patients are diagnosed at an advanced stage and have a high mortality rate. Current screening strategies fail to improve prognosis because markers that are sensitive for early stage disease are lacking. This medical need justifies...

Development and validation of a novel artificial intelligence driven tool for accurate mandibular canal segmentation on CBCT.

Journal of dentistry

Lahoud P, Diels S, Niclaes L, Van Aelst S, Willems H, Van Gerven A, Quirynen M, Jacobs R.
PMID: 34780873
J Dent. 2022 Jan;116:103891. doi: 10.1016/j.jdent.2021.103891. Epub 2021 Nov 13.

OBJECTIVES: The objective of this study is the development and validation of a novel artificial intelligence driven tool for fast and accurate mandibular canal segmentation on cone beam computed tomography (CBCT).METHODS: A total of 235 CBCT scans from dentate...

Oncogenic KRAS engages an RSK1/NF1 pathway to inhibit wild-type RAS signaling in pancreatic cancer.

Proceedings of the National Academy of Sciences of the United States of America

Cheng DK, Oni TE, Thalappillil JS, Park Y, Ting HC, Alagesan B, Prasad NV, Addison K, Rivera KD, Pappin DJ, Van Aelst L, Tuveson DA.
PMID: 34021083
Proc Natl Acad Sci U S A. 2021 May 25;118(21). doi: 10.1073/pnas.2016904118.

Pancreatic ductal adenocarcinoma (PDAC) is a lethal malignancy with limited treatment options. Although activating mutations of the KRAS GTPase are the predominant dependency present in >90% of PDAC patients, targeting KRAS mutants directly has been challenging in PDAC. Similarly,...

Proteoform Analysis of Matrix Metalloproteinase-9/Gelatinase B and Discovery of Its Citrullination in Rheumatoid Arthritis Synovial Fluids.

Frontiers in immunology

Grillet B, Yu K, Ugarte-Berzal E, Janssens R, Pereira RVS, Boon L, Martens E, Berghmans N, Ronsse I, Van Aelst I, Fiten P, Conings R, Vandooren J, Verschueren P, Van Damme J, Proost P, Opdenakker G.
PMID: 34912337
Front Immunol. 2021 Nov 29;12:763832. doi: 10.3389/fimmu.2021.763832. eCollection 2021.

OBJECTIVES: To explore posttranslational modifications (PTMs), including proteolytic activation, multimerization, complex formation and citrullination of gelatinases, in particular of gelatinase B/MMP-9, and to detect in gelatin-Sepharose affinity-purified synovial fluids, the presence of specific MMP proteoforms in relation to arthritis.METHODS:...

Pancreas Islet Cell-Specific Antibody Detection by ELISA.

The journal of applied laboratory medicine

Van Aelst S, Gillard P, Weets I, Dillaerts D, Billen J, Mathieu C, Bossuyt X.
PMID: 34996082
J Appl Lab Med. 2022 Jan 05;7(1):66-74. doi: 10.1093/jalm/jfab141.

BACKGROUND: Islet cell-specific autoantibodies are useful to classify diabetes. The aim of this study was to evaluate the performance of commercially available ELISAs to detect autoantibodies to glutamic acid decarboxylase 65-kDa isoform (GADA), tyrosine phosphatase-related islet antigen 2 (IA-2A),...

Acute myeloid leukaemia as a cause of acute ischaemic heart disease.

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

van Haelst PL, Schot B, Hoendermis ES, van den Berg MP.
PMID: 25696595
Neth Heart J. 2006 Feb;14(2):62-65.

Ischaemic heart disease is almost invariably the result of atherosclerotic degeneration of the coronary arteries. However, other causes of ischaemic heart disease should always be considered. Here we describe two patients with a classic presentation of ischaemic heart disease...

Showing 1 to 12 of 56 entries