Academic Bibliography

Mark

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

Mark

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

Mark

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

Mark

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

Mark

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

Mark

Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/-) mice: insight on phenotypic variability in osteogenesis imperfecta

Laura Bianchi, Assunta Gagliardi, Silvia Maruelli, Roberta Besio, Claudia Landi, Roberta Gioia, Kenneth M. Kozloff, Basma M. Khoury, Paul Coucke (UGent) , Sofie Symoens (UGent) , et al.

(2015) HUMAN MOLECULAR GENETICS. 24(21). p.6118-6133

Mark

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

Mark

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

Mark

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Kinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, Qin Liu, Emily Place, Marni J Falk, Mark Consugar, Marie-Elise Lancelot, Aline Antonio, Christine Lonjou, et al.

(2015) HUMAN MOLECULAR GENETICS. 24(1). p.230-242

Mark

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin

Bethany L Johnson-Kerner, Faizzan S Ahmad, Alejandro Garcia Diaz, John Palmer Greene, Steven J Gray, Richard Jude Samulski, Wendy K Chung, Rudy Van Coster (UGent) , Paul Maertens, Scott A Noggle, et al.

(2015) HUMAN MOLECULAR GENETICS. 24(5). p.1420-1431

Academic Bibliography

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

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

Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/-) mice: insight on phenotypic variability in osteogenesis imperfecta

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

Integrative pathway genomics of lung function and airflow obstruction

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin

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