Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism
about
ATR suppresses endogenous DNA damage and allows completion of homologous recombination repairL-DOPA is an endogenous ligand for OA1What controls variation in human skin color?Oculocutaneous albinismComplete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickensEndoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinismPredicting phenotype from genotype: normal pigmentationInsect prophenoloxidase: the view beyond immunityThe molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentationProstate cancer risk: associations with ultraviolet radiation, tyrosinase and melanocortin-1 receptor genotypesIdentification of genes associated with shell color in the black-lipped pearl oyster, Pinctada margaritiferaNoncoding origins of anthropoid traits and a new null model of transposon functionalizationFunctional anthology of intrinsic disorder. 3. Ligands, post-translational modifications, and diseases associated with intrinsically disordered proteins.Networks and pathways in pigmentation, health, and disease.Relationship between foveal cone specialization and pit morphology in albinismMC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)Regulation of tyrosinase trafficking and processing by presenilins: partial loss of function by familial Alzheimer's disease mutation.Sequences associated with human iris pigmentation.Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutationThe convergent evolution of blue iris pigmentation in primates took distinct molecular paths.Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17Molecular and clinical characterization of albinism in a large cohort of Italian patients.A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesisA conditional mouse model for measuring the frequency of homologous recombination events in vivo in the absence of essential genes.Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinismThe clinical features of albinism and their correlation with visual evoked potentialsL-tyrosine and L-dihydroxyphenylalanine as hormone-like regulators of melanocyte functionsSTAP-2 Protein Expression in B16F10 Melanoma Cells Positively Regulates Protein Levels of Tyrosinase, Which Determines Organs to Infiltrate in the Body.LEF-1 Regulates Tyrosinase Gene Transcription In Vitro.The structure of a prophenoloxidase (PPO) from Anopheles gambiae provides new insights into the mechanism of PPO activationEvolutionary history inferred from the de novo assembly of a nonmodel organism, the blue-eyed black lemur.Gene Expression Variations of Red-White Skin Coloration in Common Carp (Cyprinus carpio).Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.Glycosphingolipids are required for sorting melanosomal proteins in the Golgi complex.N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium.Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinismReport of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.Chapter 8. Evolution and development in the cavefish Astyanax.Abnormally Small Neuromuscular Junctions in the Extraocular Muscles From Subjects With Idiopathic Nystagmus and Nystagmus Associated With Albinism.Albinism: particular attention to the ocular motor system.
P2860
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P2860
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism
description
1999 nî lūn-bûn
@nan
1999 թուականին հրատարակուած գիտական յօդուած
@hyw
1999 թվականին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Molecular basis of albinism: m ...... genes associated with albinism
@ast
Molecular basis of albinism: m ...... genes associated with albinism
@en
Molecular basis of albinism: m ...... genes associated with albinism
@nl
type
label
Molecular basis of albinism: m ...... genes associated with albinism
@ast
Molecular basis of albinism: m ...... genes associated with albinism
@en
Molecular basis of albinism: m ...... genes associated with albinism
@nl
prefLabel
Molecular basis of albinism: m ...... genes associated with albinism
@ast
Molecular basis of albinism: m ...... genes associated with albinism
@en
Molecular basis of albinism: m ...... genes associated with albinism
@nl
P3181
P1433
P1476
Molecular basis of albinism: m ...... genes associated with albinism
@en
P2093
P304
P3181
P356
10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.3.CO;2-3
P407
P577
1999-01-01T00:00:00Z