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

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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, Reut Eshel, Rawan Alatawna, Björn Menten (UGent) , et al.

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

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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, 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

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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

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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

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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

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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

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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

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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

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AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model

Adriaan Verhelle (UGent) , Nair Nisha, Inge Everaert (UGent) , Wouter Van Overbeke (UGent) , Lynn Supply (UGent) , Olivier Zwaenepoel (UGent) , Cindy Peleman, Jo Van Dorpe (UGent) , Tony Lahoutte, Nick Devoogdt, et al.

(2017) HUMAN MOLECULAR GENETICS. 26(7). p.1353-1364

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

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

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

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

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

AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model

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