DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

Diagnostic approaches to apparent homozygosity

(2012) Megan L. Landsverk et al.   GENETICS IN MEDICINE

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

(2012) W. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Claudia Yahalom et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Identification of an animal sucrose transporter

(2011) H. Meyer et al.   JOURNAL OF CELL SCIENCE

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

(2011) Ighovie F. Onojafe et al.   JOURNAL OF CLINICAL INVESTIGATION

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

(2011) Andrew R. Cullinane et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2011) Daren Low et al.   Pigment Cell & Melanoma Research

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

(2011) Thierry Vilboux et al.   PLoS One

The Enlarged Lysosomes in beigej Cells Result From Decreased Lysosome Fission and Not Increased Lysosome Fusion

(2011) Nina Durchfort et al.   TRAFFIC

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

(2010) Caroline Rooryck et al.   HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

(2010) Ambrish Roy et al.   Nature Protocols

Oculocutaneous albinism spectrum

(2009) Pei-Wen Chiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism

(2009) William S. Oetting et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Physiological factors that regulate skin pigmentation

(2009) Yuji Yamaguchi et al.   BIOFACTORS

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

(2009) Clio Dessinioti et al.   EXPERIMENTAL DERMATOLOGY

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

(2009) Ana Luísa Silva et al.   FEBS LETTERS

A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

(2009) Aihua Wei et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2009) Lawrence A Kelley et al.   Nature Protocols

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

(2009) Prateek Kumar et al.   Nature Protocols

Albinism: Classification, Clinical Characteristics, and Recent Findings

(2009) C Gail Summers   OPTOMETRY AND VISION SCIENCE

A new hypothesis of OCA1B

(2008) Pei-Wen Chiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Synergistic interaction of theOCA2andOCA3genes in a family

(2008) Pei-Wen Chiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2008) Patricia M Lund et al.   BMC PUBLIC HEALTH

Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type

(2008) Saunie M. Hutton et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2008) Caroline Rooryck et al.   Pigment Cell & Melanoma Research

Specific expression ofGsta4in mouse cochlear melanocytes: a novel role for hearing and melanocyte differentiation

(2008) Shigeyuki Uehara et al.   Pigment Cell & Melanoma Research

L-DOPA Is an Endogenous Ligand for OA1

(2008) Vanessa M Lopez et al.   PLOS BIOLOGY