(Q34373327)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24066960%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Increasing the complexity: new genes and new types of albinism (English)

1 reference

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23 February 2020

1

1 reference

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23 February 2020

Karen Grønskov

2

1 reference

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23 February 2020

Mónica Martínez-García

4

1 reference

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23 February 2020

8

Saima Riazuddin

1 reference

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23 February 2020

7

Fanny Morice-Picard

1 reference

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23 February 2020

author name string

Ai-Hua Wei

3

1 reference

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23 February 2020

Almudena Fernández

5

1 reference

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23 February 2020

Benoît Arveiler

6

1 reference

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23 February 2020

Tamio Suzuki

9

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23 February 2020

Zubair M Ahmed

10

1 reference

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23 February 2020

Thomas Rosenberg

11

1 reference

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23 February 2020

Wei Li

12

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23 February 2020

publication date

17 October 2013

1 reference

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Pigment Cell & Melanoma Research

23 February 2020

published in

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23 February 2020

volume

27

1 reference

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23 February 2020

issue

1

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23 February 2020

page(s)

11-18

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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

23 February 2020

cites work

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Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene

21 January 2018

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The leucine-rich repeat structure.

21 January 2018

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Albinism in Africa: stigma, slaughter and awareness campaigns

21 January 2018

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RETRACTED: A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

21 January 2018

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Association of the AP-3 adaptor complex with clathrin

21 January 2018

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Molecular anatomy of tyrosinase and its related proteins: beyond the histidine-bound metal catalytic center.

21 January 2018

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Molecular and clinical characterization of albinism in a large cohort of Italian patients

21 January 2018

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The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).

21 January 2018

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Chiasmal misrouting and foveal hypoplasia without albinism

21 January 2018

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Rod photopigment deficits in albinos are specific to mammals and arise during retinal development.

21 January 2018

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21 January 2018

Oculocutaneous albinism

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Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism

21 January 2018

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Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

21 January 2018

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Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

21 January 2018

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Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

21 January 2018

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A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients

21 January 2018

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Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type

21 January 2018

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Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan

21 January 2018

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The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor

21 January 2018

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Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin

21 January 2018

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Melanin and the regulation of mammalian photoreceptor topography.

21 January 2018

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Correction of retinal abnormalities found in albinism by introduction of a functional tyrosinase gene in transgenic mice and rabbits.

21 January 2018

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Assembly, target-signaling and intracellular transport of tyrosinase gene family proteins in the initial stage of melanosome biogenesis

21 January 2018

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SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans

21 January 2018

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Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin

21 January 2018

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Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

21 January 2018

1 reference

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Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system

21 January 2018

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L-DOPA is an endogenous ligand for OA1

21 January 2018

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BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4

21 January 2018

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21 January 2018

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A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

21 January 2018

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Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

21 January 2018

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The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation

21 January 2018

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Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

21 January 2018

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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

21 January 2018

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Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects

21 January 2018

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Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene

21 January 2018

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Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4

21 January 2018

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Tyrp1 and oculocutaneous albinism type 3

21 January 2018

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The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis

21 January 2018

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L-tyrosine and L-dihydroxyphenylalanine as hormone-like regulators of melanocyte functions

21 January 2018

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Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)

21 January 2018

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Albinism: classification, clinical characteristics, and recent findings

21 January 2018

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Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.

21 January 2018

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The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase

21 January 2018

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Griscelli syndrome: a model system to study vesicular trafficking

21 January 2018

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Ocular albinism and hypopigmentation defects in Slc24a5-/- mice.

21 January 2018

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Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis

21 January 2018

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A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism

21 January 2018

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Hypopigmentation in Hermansky-Pudlak syndrome

21 January 2018

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Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism

21 January 2018

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Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

21 January 2018

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