Ghent University Academic Bibliography

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

Annekatrien Boel (UGent) , Joyce Burger, Marine Vanhomwegen (UGent) , Aude Beyens (UGent) , Marjolijn Renard (UGent) , Sander Barnhoorn, Christophe Casteleyn (UGent) , Dieter Reinhardt, Benedicte Descamps (UGent) , Christian Vanhove (UGent) , et al.

(2020) HUMAN MOLECULAR GENETICS. 29(9). p.1476-1488

Add to list

Journal Article
A1
open access

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Eva D'haene (UGent) , Reut Bar-Yaacov, Inbar Bariah, Lies Vantomme (UGent) , Sien Van Loo, Francisco Avila Cobos (UGent) , Karen Verboom (UGent) , Reut Eshel, Rawan Alatawna, Björn Menten (UGent) , et al.

(2019) HUMAN MOLECULAR GENETICS. 28(5). p.818-827

Add to list

Journal Article
A1
open access

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

Brecht Guillemyn (UGent) , Hülya Kayserili, Lynn Demuynck (UGent) , Patrick Sips (UGent) , Anne De Paepe (UGent) , Delfien Syx (UGent) , Paul Coucke (UGent) , Fransiska Malfait (UGent) and Sofie Symoens (UGent)

(2019) HUMAN MOLECULAR GENETICS. 28(11). p.1801-1809

Add to list

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome

Delfien Syx (UGent) , Inge De Wandele (UGent) , Sofie Symoens (UGent) , Riet De Rycke (UGent) , Olivier Hougrand, Nicol Voermans, Anne De Paepe (UGent) and Fransiska Malfait (UGent)

(2019) HUMAN MOLECULAR GENETICS. 28(11). p.1853-1864

Add to list

Journal Article
A1
open access

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution

Michiel Krols, Bob Asselbergh, Riet De Rycke (UGent) , Vicky De Winter, Alexandre Seyer, Franz-Josef Mueller, Ingo Kurth, Geert Bultynck, Vincent Timmerman and Sophie Janssens (UGent)

(2019) HUMAN MOLECULAR GENETICS. 28(4). p.615-627

Add to list

Journal Article
A1
open access

Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression

Diana van Der Plaat, Judith M Vonk, Natalie Terzikhan (UGent) , Kim de Jong, Maaike de Vries, Sacha La Bastide-van Gemert, Cleo C van Diemen, Lies Lahousse (UGent) , Guy Brusselle (UGent) , Ivana Nedeljkovic, et al.

(2019) HUMAN MOLECULAR GENETICS. 28(15). p.2477-2485

Add to list

Journal Article
A1
open access

COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression

Ivana Nedeljkovic, Lies Lahousse (UGent) , Elena Carnero-Montoro, Alen Faiz, Judith M Vonk, Kim de Jong, Diana A van der Plaat, Cleo C van Diemen, Maarten van den Berge, Ma'en Obeidat, et al.

(2018) HUMAN MOLECULAR GENETICS. 27(2). p.396-405

Add to list

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Tim Van Damme (UGent) , Xiaomeng Pang, Brecht Guillemyn (UGent) , Sandrine Gulberti, Delfien Syx (UGent) , Riet De Rycke (UGent) , Olivier Kaye, Christine E. M. de Die-Smulders, Rolph Pfundt, Ariana Kariminejad, et al.

(2018) HUMAN MOLECULAR GENETICS. 27(20). p.3475-3487

Add to list

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

Yaqun Zou, Sandra Donkervoort, Antti M Salo, A Reghan Foley, Aileen M Barnes, Ying Hu, Elena Makareeva, Meganne E Leach, Payam Mohassel, Jahannaz Dastgir, et al.

(2017) HUMAN MOLECULAR GENETICS. 26(12). p.2207-2217

Add to list

The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways

Tishani Methsala Wijesuriya, Leentje De Ceuninck (UGent) , Delphine Masschaele (UGent) , Matthea R Sanderson, Karin Vanessa Carias, Jan Tavernier (UGent) and Rachel Wevrick

(2017) HUMAN MOLECULAR GENETICS. 26(21). p.4215-4230

Academic Bibliography

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution

Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression

COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways

Contents

Support

Contact