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Karen J. Loechner
Researcher at University of North Carolina at Chapel Hill
Publications - 11
Citations - 360
Karen J. Loechner is an academic researcher from University of North Carolina at Chapel Hill. The author has contributed to research in topics: Rickets & Osteopenia. The author has an hindex of 6, co-authored 9 publications receiving 323 citations.
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Journal ArticleDOI
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Yvonne Nitschke,Geneviève Baujat,Ulrike Botschen,Tanja Wittkampf,Marcel du Moulin,Jacqueline Stella,Martine Le Merrer,Guest G,K Lambot,Marie-Frederique Tazarourte-Pinturier,Nicolas Chassaing,Olivier Roche,Ilse Feenstra,Karen J. Loechner,Charu Deshpande,Samuel J. Garber,Rashmi Chikarmane,Beat Steinmann,Tatevik Shahinyan,Loreto Martorell,Justin H Davies,Wendy E. Smith,Stephen G. Kahler,Mignon McCulloch,Elizabeth Wraige,Lourdes Loidi,Wolfgang Höhne,Ludovic Martin,Smail Hadj-Rabia,Robert Terkeltaub,Frank Rutsch +30 more
TL;DR: Based on the considerable overlap of genotype and phenotype of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than two distinct disorders.
Journal ArticleDOI
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
Karen J. Loechner,Alejandro Akrouh,Harley T. Kurata,Carlo Dionisi-Vici,Arianna Maiorana,Milena Pizzoferro,Vittoria Rufini,Jean de Ville de Goyet,Carlo Colombo,Fabrizio Barbetti,Joseph C. Koster,Colin G. Nichols +11 more
TL;DR: V290M results in inactivating KATP channels that underlie hyperinsulinism, which leads to significantly reduced activity in intact cells when expressed homomerically, and to a lesser extent when expressed heteromerically with wild-type subunits.
Journal ArticleDOI
Alternative strategies for the treatment of classical congenital adrenal hyperplasia: pitfalls and promises.
TL;DR: Gene therapy and stem cells, to provide functional adrenal cortical tissue, are at preclinical stage but provide exciting avenues for a potential cure for CAH.
Journal ArticleDOI
Hypophosphatemic Rickets in Opsismodysplasia
Martha P.D. Zeger,Deanna Adkins,Lynn A. Fordham,Kenneth E. White,Eckhard Schoenau,Frank Rauch,Karen J. Loechner +6 more
TL;DR: Screening phosphorus levels may uncover a potentially treatable component of this disease and demonstrate an association between opsismodysplasia, hypophosphatemic rickets, and FGF23 elevation.
Journal Article
Dental implications of osteogenesis imperfecta: treatment with IV bisphosphonate: report of a case.
TL;DR: While no dental guidelines have been developed to manage OI children having been treated with bisphosphonates, consent for extractions should include the risk of bone necrosis and careful post-operative observation to monitor wound healing.