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American Journal of Physiology. Renal Physiology|October 9, 2009
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidusMia Faerch, Jane H Christensen, Søren Rittig, et al.
Biochimica Et Biophysica Acta|June 20, 2014
Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: a possible role of mPTP opening as a pathomechanism in these disorders?Anelise Miotti Tonin, Alexandre Umpierrez Amaral, Estela Natacha Busanello, et al.
Human Mutation|December 2, 2010
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice siteThomas Koed Doktor, Lisbeth Dahl Schroeder, Anne Vested, et al.
Neuroendocrinology|June 28, 2018
A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA MissplicingHelene Kvistgaard, Jane H Christensen, Jan-Ove Johansson, et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics|September 7, 2019
Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalanceJoana V Ribeiro, Tânia G Lucas, Peter Bross, et al.
The Journal of Biological Chemistry|December 18, 2008
Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementationBárbara J Henriques, João V Rodrigues, Rikke K Olsen, et al.
Pharmacogenomics|December 24, 2008
Drug-diagnostic codevelopment strategies: FDA and industry dialog at the 4th FDA/DIA/PhRMA/PWG/BIO Pharmacogenomics WorkshopLois Hinman, Brian Spear, Zenta Tsuchihashi, et al.
European Journal of Human Genetics : EJHG|December 16, 2003
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesisJane H Christensen, Charlotte Siggaard, Thomas J Corydon, et al.
Neuroendocrinology|May 12, 2017
The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide VariantsLise Bols Toustrup, Helene Kvistgaard, Johan Palmfeldt, et al.
Experimental Dermatology|August 22, 2003
Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplexCharlotte B Sørensen, Brage S Andresen, Uffe B Jensen, et al.
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