choroideremia/guanine

Lyen an sove nan clipboard la

AtikEsè klinikPatant

Chwazi kalite sòt

4 rezilta yo

Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Choroideremia is an X-chromosome-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium and the photoreceptor layer in the eye. The gene product defective in choroideremia, CHM, is identical to Rab escort protein 1 (REP1). CHM/REP1 is an essential

Molecular evolution of the Rab-escort-protein/guanine-nucleotide-dissociation-inhibitor superfamily.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Prenylation of Rab GTPases regulating vesicle traffic by Rab geranylgeranyltransferase (RabGGTase) requires a complex formed by the association of newly synthesized Rab proteins with Rab-escort-protein (REP), the choroideremia-gene-product that is mutated in disease, leading to loss of vision. After

cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

cDNA cloning of component A of rat Rab geranylgeranyl transferase confirms identity of the protein with the human choroideremia gene product and its resemblance to Rab3A guanine nucleotide dissociation inhibitor (GDI), which binds prenylated Rabs. In biochemical assays we demonstrate that component

Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene.

Se sèlman itilizatè ki anrejistre yo ki ka tradwi atik yo

Choroideremia is a rare X-linked recessive, hereditary retinal pigment epithelial dystrophy, characterized by night blindness and progressive constriction of the visual fields leading to blindness in young adulthood. In this study, we reported three cases of choroideremia belonging to a Tunisian

Antre nan paj
facebook nou an

Herbal & Natural Medicine

Baz done ki pi konplè remèd fèy medsin te apiye nan syans

Travay nan 55 lang
Geri èrbal te apiye nan syans
Remèd fèy rekonesans pa imaj
Kat entèaktif GPS - tag zèb sou kote (vini byento)
Li piblikasyon syantifik ki gen rapò ak rechèch ou an
Search remèd fèy medsin pa efè yo
Izeganize enterè ou yo ak rete kanpe fè dat ak rechèch la nouvèl, esè klinik ak rive

Tape yon sentòm oswa yon maladi epi li sou remèd fèy ki ta ka ede, tape yon zèb ak wè maladi ak sentòm li itilize kont.
* Tout enfòmasyon baze sou rechèch syantifik pibliye