Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive
retinopathies caused by several distinct genes. One locus, the RP10 form of adRP, maps to …

PURPOSE: To define a general framework of current approaches to the discovery of disease-
associated genes and the role of genetic factors in influencing disease risk through the …

Abstract ADP-ribosylation factor 3 (ARF3) is a member of the KRAS proto-oncogene,
GTPase (Ras) super-family of guanine nucleotide-binding proteins that mediates Golgi …

Recent genetic studies have suggested that PAX4, a member of the paired box (PAX) gene
family, is involved in the mechanism regulating the fate of pancreatic islet endocrine …

Hybridization of a blot containing 50 human RNAs with an ADP-ribosylation factor 5-specific
(ARF5) oligonucleotide probe revealed that the ARF5 gene is expressed in all tissues; …

ADP-ribosylation factor 6 (ARF6) is a member of a family of~ 20-kDa guanine nucleotide-
binding proteins that has been implicated to function in membrane ruffling and cell motility …

ADP-ribosylation factor 4 (ARF4) is a member of a family of∼ 20kDa guanine nucleotide-
binding proteins that were initially identified by their ability to stimulate the ADP …

Retinitis pigmentosa (RP) is an inherited retinal degenerative disease that is the leading
cause of inherited blindness worldwide. Characteristic features of the disease include night …

Dissertation Page 1 Titelseite Dissertation zur Erlangung des Doktorgrades der Fakultät für
Chemie und Pharmazie der Ludwig-Maximilians-Universität München Biochemische und …

S'ha abordat l'estudi genètico-molecular d'una extensa família espanyola afectada per una
nova forma de distròfia muscular de maluc (Limb-girdle muscle dystrophy, LGMD) amb …