Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune et al. · Nature Genetics · 2005 · 1.8K citations

Developmental Anomaly, Developmental Biology, Craniofacial Anomalies +9

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Olivier Le Saux, Zsolt Urbán, Cordula Tschuch et al. · Nature Genetics · 2000 · 540 citations · Full text

Biology, Natural Sciences, Genetics +5

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

Glen Seidner, Marcela Garcia Alvarez, Jih‐I Yeh et al. · Nature Genetics · 1998 · 374 citations

Clinical Disorders, Heme Homeostasis, Inherited Metabolic Disease +9

Effects of platelet-derived growth factor and transforming growth factor-beta 1 on the synthesis of a large versican-like chondroitin sulfate proteoglycan by arterial smooth muscle cells.

E Schönherr, Hannu Järveläinen, Linda J. Sandell et al. · Journal of Biological Chemistry · 1991 · 346 citations · Full text

Sclerostin, Pathology, Cell Proliferation +20

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

René Santer, Reinhard Schneppenheim, Anja Dombrowski et al. · Nature Genetics · 1997 · 332 citations

Metabolic Syndrome, Mendelian Disorder, Health Sciences +10