Ghent University Academic Bibliography

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

(2019) HUMAN MOLECULAR GENETICS.

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journalArticle

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.

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journalArticle

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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journalArticle
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

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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

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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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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

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journalArticle
A1
open access

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

Line M Myklebust, Petra Van Damme (UGent) , Svein I Støve, Max J Dörfel, Angèle Abboud, Thomas V Kalvik, Cedric Grauffel, Veronique Jonckheere (UGent) , Yiyang Wu, Jeffrey Swensen, et al.

(2015) HUMAN MOLECULAR GENETICS. 24(7). p.1956-1976

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Integrative pathway genomics of lung function and airflow obstruction

Sina A Gharib, Daan W Loth, María Soler Artigas, Timothy P Birkland, Jemma B Wilk, Louise V Wain, Jennifer A Brody, Ma'en Obeidat, Dana B Hancock, Wenbo Tang, et al.

(2015) HUMAN MOLECULAR GENETICS. 24(23). p.6836-6848

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An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model

Wouter Van Overbeke (UGent) , Jantana Wongsantichon, Inge Everaert (UGent) , Adriaan Verhelle (UGent) , Olivier Zwaenepoel (UGent) , Anantasak Loonchanta, Leslie D Burtnick, Ariane De Ganck (UGent) , Tino Hochepied (UGent) , Jody Haigh (UGent) , et al.

(2015) HUMAN MOLECULAR GENETICS. 24(9). p.2492-2507

Academic Bibliography

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

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

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

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

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

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

Integrative pathway genomics of lung function and airflow obstruction

An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model

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