Concepedia
Human Genetics · 2012 · 93 citations · 33 references
Open access
MedicineGeneticsMolecular GeneticsApoptosisDisease MechanismsAutosomal Dominant Cutis LaxaAutosomal Recessive Cutis LaxaCutis Laxa Syndromes
33
A new syndrome
Jm Costello · Medical Entomology and Zoology · 1971 · 499 citations
Medicine, Ophthalmology, Ocular Disease +16
V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway
Andres Hurtado‐Lorenzo, Mhairi Skinner, Jaafar El Annan et al. · Nature Cell Biology · 2006 · 467 citations
Life Sciences, Cell Biology, Molecular Biology +11
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou et al. · Nature Genetics · 2007 · 376 citations · Full text
Life Sciences, Genetics, Molecular Biology +12
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
Bart Loeys · Human Molecular Genetics · 2002 · 315 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome
Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim et al. · The American Journal of Human Genetics · 2006 · 304 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12