DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics (Q26864287)

main subject

oculocutaneous albinism

1 reference

11

0 references

author name string

Dimitre R. Simeonov

1

1 reference

Xinjing Wang

2

1 reference

Chen Wang

3

1 reference

Yuri Sergeev

4

1 reference

Monika Dolinska

5

1 reference

Matthew Bower

6

1 reference

Roxanne Fischer

7

1 reference

David Winer

8

1 reference

Genia Dubrovsky

9

1 reference

Joan Z. Balog

10

1 reference

Rachel Hart

12

1 reference

Wadih M. Zein

13

1 reference

William A. Gahl

14

1 reference

Brian P. Brooks

15

1 reference

David R. Adams

16

1 reference

language of work or name

1 reference

June 2013

1 reference

1 reference

34

1 reference

issue

6

1 reference

page(s)

827-35

1 reference

I-TASSER: a unified platform for automated protein structure and function prediction

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

L-DOPA is an endogenous ligand for OA1

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

21 March 2017

Oculocutaneous albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Database resources of the National Center for Biotechnology Information

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

A method and server for predicting damaging missense mutations

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Protein structure prediction on the Web: a case study using the Phyre server

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Tyrp1 and oculocutaneous albinism type 3

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Physiological factors that regulate skin pigmentation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

The mystery of missing heritability: Genetic interactions create phantom heritability

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Increasing the precision of comparative models with YASARA NOVA-a self-parameterizing force field

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Perivascular-resident macrophage-like melanocytes in the inner ear are essential for the integrity of the intrastrial fluid-blood barrier.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Diagnostic approaches to apparent homozygosity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Bioinformatics and mutations leading to exon skipping

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

The biology of protein kinase C.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

The enlarged lysosomes in beige j cells result from decreased lysosome fission and not increased lysosome fusion

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Albinism: classification, clinical characteristics, and recent findings

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Lack of adequate sun protection for children with oculocutaneous albinism in South Africa

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Direct interaction of tyrosinase with Tyrp1 to form heterodimeric complexes in vivo

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

SNAP: predict effect of non-synonymous polymorphisms on function

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Oculocutaneous albinism type 1: the last 100 years

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Melanosomal pH controls rate of melanogenesis, eumelanin/phaeomelanin ratio and melanosome maturation in melanocytes and melanoma cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Mutational analysis of Raf-1 cysteine rich domain: requirement for a cluster of basic aminoacids for interaction with phosphatidylserine.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Tyrosinase and related proteins in mammalian pigmentation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Albinism in Nigeria. A clinical and social study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

The role of optical coherence tomography in an atypical case of oculocutaneous albinism: a case report.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

Mutational mapping of the catalytic activities of human tyrosinase

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3959784

A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.

31 May 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

Identification of an animal sucrose transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

Specific expression of Gsta4 in mouse cochlear melanocytes: a novel role for hearing and melanocyte differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22315

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

21 January 2018

1 reference

12 December 2020

Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene

1 reference

12 December 2020

Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes

1 reference

12 December 2020

Molecular basis of oculocutaneous albinism type 1 in Lebanese patients

1 reference

12 December 2020

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype

1 reference

12 December 2020

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism

1 reference

12 December 2020

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele

1 reference

12 December 2020

Refractive profile in oculocutaneous albinism and its correlation with final visual outcome

1 reference

12 December 2020

Melanosomal pH, pink locus protein and their roles in melanogenesis

1 reference

12 December 2020

UBE3A regulates MC1R expression: a link to hypopigmentation in Angelman syndrome

1 reference

12 December 2020

A new hypothesis of OCA1B

1 reference

12 December 2020

Oculocutaneous albinism spectrum

1 reference

12 December 2020

Protein kinase C-beta activates tyrosinase by phosphorylating serine residues in its cytoplasmic domain

1 reference

12 December 2020

Identifying human albinism: a comparison of VEP and fMRI

1 reference

12 December 2020

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

1 reference

12 December 2020

Melanosomal pH, pink locus protein and their roles in melanogenesis

1 reference

12 December 2020

Synergistic interaction of the OCA2 and OCA3 genes in a family

1 reference

12 December 2020

Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome

1 reference

12 December 2020

Identifiers

0 references

1 reference

PubMed publication ID

23504663

1 reference