Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA.

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Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/S0923-1811(03)00071-9
P698PubMed publication ID12850305

P2093author name stringYasushi Tomita
Yoshinori Miyamura
Tamio Suzuki
Katsuhiko Inagaki
P2860cites workLocalization of low molecular weight GTP binding proteins to exocytic and endocytic compartmentsQ24316079
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinismQ24320016
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinismQ24337149
Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4Q24536147
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouseQ24619568
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 geneQ24677297
Rab proteins as membrane organizersQ27860861
Molecular cloning and expression analysis of the human Rab7 GTP-ase complementary deoxyribonucleic acidQ28116614
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino populationQ28138730
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndromeQ29620423
Mutation of melanosome protein RAB38 in chocolate miceQ34048569
Rab GTPases, intracellular traffic and disease.Q34109808
Human oculocutaneous albinism caused by single base insertion in the tyrosinase geneQ35223876
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinismQ35820377
Mutant Rab7 causes the accumulation of cathepsin D and cation-independent mannose 6-phosphate receptor in an early endocytic compartmentQ36255234
Molecular genetics of oculocutaneous albinismQ40588661
Tyrosinase and tyrosinase-related protein 1 require Rab7 for their intracellular transportQ45143370
Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in JapanQ73101247
P433issue2
P304page(s)131-136
P577publication date2003-08-01
P1433published inJournal of Dermatological ScienceQ15749351
P1476titleCharacterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA.
P478volume32

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cites work (P2860)
Q44150153A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism
Q36008833Analysis of ocular hypopigmentation in Rab38cht/cht mice
Q45841491Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism
Q21284502Mutational analysis of oculocutaneous albinism: a compact review
Q57213477OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean
Q36119125Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes
Q24319131Rab7: roles in membrane trafficking and disease
Q45345288SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism

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