Academic Bibliography

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

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

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

Academic Bibliography

Biblio has been updated

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

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

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

Integrative pathway genomics of lung function and airflow obstruction

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

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

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

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