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Human Mutation|February 11, 2011
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutationsBert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, et al.Human Mutation|May 4, 2010
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisRobert C Bauer, Ayanna O Laney, Rosemarie Smith, et al.Pediatric Research|October 11, 2025
Deleterious variants in LTBP4 are associated with severe pediatric sepsisYidi Qin, Kate F Kernan, Yulong Bai, et al.American Journal of Human Genetics|October 20, 2009
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal developmentZsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, et al.The Journal of Clinical Investigation|January 6, 2022
JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiencyJui M Dave, Raja Chakraborty, Aglaia Ntokou, et al.Nature Genetics|July 26, 2016
A thrifty variant in CREBRF strongly influences body mass index in SamoansRyan L Minster, Nicola L Hawley, Chi-Ting Su, et al.Nature Genetics|December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.Journal of Inherited Metabolic Disease|May 18, 2020
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxaMiski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, et al.Human Molecular Genetics|March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalVishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.Human Mutation|July 26, 2012
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaBert Callewaert, Chi-Ting Su, Tim Van Damme, et al.Pageof 5