Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. (Q34882442)

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

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scholarly article

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30 January 2020

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

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541274%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

congenital disorder

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congenital nystagmus

1 reference

based on heuristic

inferred from title

author name string

Markus N Preising

1

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30 January 2020

Hedwig Forster

2

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30 January 2020

Miriam Gonser

3

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30 January 2020

Birgit Lorenz

4

1 reference

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30 January 2020

publication date

15 April 2011

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30 January 2020

Molecular Vision

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541274%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

17

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30 January 2020

939-948

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541274%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Molecular genetics of human pigmentation diversity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

L-DOPA is an endogenous ligand for OA1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Genetic association and cellular function of MC1R variant alleles in human pigmentation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

P gene as an inherited biomarker of human eye color.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

The melanocortin-1 receptor: red hair and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Functional variation of MC1R alleles from red-haired individuals.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Deletion in the OA1 gene in a family with congenital X linked nystagmus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Organization and sequence of the human P gene and identification of a new family of transport proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

X-linked ocular albinism in Blacks. Ocular albinism cum pigmento

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

8 July 2018

Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

26 October 2018

Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

26 October 2018

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

26 October 2018

Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

26 October 2018

Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3084229

26 October 2018

[Analysis of 180 patients with sensory defect nystagmus (SDN) and congenital idiopathic nystagmus (CIN)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Initiation codon mutation of the tyrosinase gene as a cause of human albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinal mitosis is regulated by dopa, a melanin precursor that may influence the time at which cells exit the cell cycle: analysis of patterns of cell production in pigmented and albino retinae

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of oculocutaneous albinism type 1 in Lebanese patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Visual acuities "hand motion" and "counting fingers" can be quantified with the freiburg visual acuity test

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinal cell addition and rod production depend on early stages of ocular melanin synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21541274

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541274%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21541274%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

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