OCA2

Summary

Gene Symbol: OCA2
Description: OCA2 melanosomal transmembrane protein
Alias: BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, PED, SHEP1, P protein, P-protein, eye color 2 (central brown), eye color 3 (brown), hair color 3 (brown), melanocyte-specific transporter protein, oculocutaneous albinism II (pink-eye dilution homolog, mouse), pink-eyed dilution protein homolog, total brown iris pigmentation
Species: human
Products:     OCA2

Top Publications

  1. Lee S, Nicholls R, Jong M, Fukai K, Spritz R. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics. 1995;26:354-63 pubmed
    ..Mutations of the P gene result in type II oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice...
  2. Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, et al. Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat. 2000;15:166-72 pubmed
    ..OCA type 2 (tyrosinase-positive) is the most common recessively inherited disorder among southern African Blacks. OCA2 is also seen in southern African Caucasoids, but is less frequent...
  3. King R, Willaert R, Schmidt R, Pietsch J, Savage S, Brott M, et al. MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet. 2003;73:638-45 pubmed
    ..Mutations in the P gene were responsible for classic phenotype of oculocutaneous albinism type 2 (OCA2) in all eight, and mutations in the MC1R gene were responsible for the red (rather than yellow/blond) hair in the ..
  4. Jannot A, Meziani R, Bertrand G, Gerard B, Descamps V, Archimbaud A, et al. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet. 2005;13:913-20 pubmed
    The occuloalbinism 2 (OCA2) gene, localized at 15q11, encodes a melanosomal transmembrane protein that is involved in the most common form of human occulo-cutaneous albinism, a human genetic disorder characterized by fair pigmentation and ..
  5. Frudakis T, Terravainen T, Thomas M. Multilocus OCA2 genotypes specify human iris colors. Hum Genet. 2007;122:311-26 pubmed
    ..Recent studies have shown that OCA2 polymorphism underlies most of the natural variability in human iris pigmentation but to date, only a few ..
  6. Sturm R, Duffy D, Zhao Z, Leite F, Stark M, Hayward N, et al. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet. 2008;82:424-31 pubmed publisher
    ..demonstrated that haplotypes of three single nucleotide polymorphisms (SNPs) within the first intron of the OCA2 gene are extremely strongly associated with variation in human eye color...
  7. Cook A, Chen W, Thurber A, Smit D, Smith A, Bladen T, et al. Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci. J Invest Dermatol. 2009;129:392-405 pubmed publisher
    Single nucleotide polymorphisms (SNPs) within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P genes have been associated with natural variation of pigmentation traits in human populations...
  8. Nan H, Kraft P, Hunter D, Han J. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer. 2009;125:909-17 pubmed publisher
    ..We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) ..
  9. Lee S, Nicholls R, Bundey S, Laxova R, Musarella M, Spritz R. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994;330:529-34 pubmed
    ..The P protein is a transmembrane polypeptide that may transport small molecules such as tyrosine, the precursor of melanin...

More Information

Publications107 found, 100 shown here

  1. Kayser M, Liu F, Janssens A, Rivadeneira F, Lao O, van Duijn K, et al. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet. 2008;82:411-23 pubmed publisher
    ..Single nucleotide polymorphisms (SNPs) in the HERC2 gene and, to a lesser extent, in the neighboring OCA2 gene were independently associated to iris color variation. OCA2 has been implicated in iris color previously...
  2. Fernandez L, Milne R, Pita G, Avilés J, Lazaro P, Benitez J, et al. SLC45A2: a novel malignant melanoma-associated gene. Hum Mutat. 2008;29:1161-7 pubmed publisher
    ..A total of 23 SNPs in six candidate genes (ASP, OCA2, TYR, TYRP1, SILV, and SLC45A) belonging to the pigmentation pathway were genotyped...
  3. Rebbeck T, Kanetsky P, Walker A, Holmes R, Halpern A, Schuchter L, et al. P gene as an inherited biomarker of human eye color. Cancer Epidemiol Biomarkers Prev. 2002;11:782-4 pubmed
    ..The P gene is located on chromosome 15q11.2-q12, which is also the location of a putative eye pigmentation gene (EYCL3) inferred to exist by linkage analysis...
  4. Sulem P, Gudbjartsson D, Stacey S, Helgason A, Rafnar T, Magnusson K, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007;39:1443-52 pubmed
    ..3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R.
  5. Hutton S, Spritz R. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci. 2008;49:868-72 pubmed publisher
    ..a clinically mild presentation of oculocutaneous albinism (OCA), due to mutations in either the TYR (OCA1) or OCA2 (P) genes...
  6. Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 2008;4:e1000074 pubmed publisher
    ..52). One variant in the MATP gene was associated with hair color. A variant in the HERC2 gene upstream of the OCA2 gene showed the strongest and independent association with hair color compared with other SNPs in this region, ..
  7. Rinchik E, Bultman S, Horsthemke B, Lee S, Strunk K, Spritz R, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993;361:72-6 pubmed
    ..The human P gene corresponds to the D15S12 locus within the chromosome segment 15q11-q13, which is typically deleted in patients with Prader-Willi and ..
  8. Hoggart C, Parra E, Shriver M, Bonilla C, Kittles R, Clayton D, et al. Control of confounding of genetic associations in stratified populations. Am J Hum Genet. 2003;72:1492-1504 pubmed
    ..With only 32 markers informative for ancestry, the efficiency of the analysis is 70%. These methods can deal with both confounding and selection bias in genetic-association studies, making family-based designs unnecessary. ..
  9. Duffy D, Montgomery G, Chen W, Zhao Z, Le L, James M, et al. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet. 2007;80:241-52 pubmed
    We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color...
  10. Yuasa I, Umetsu K, Harihara S, Kido A, Miyoshi A, Saitou N, et al. Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. Biochem Genet. 2007;45:535-42 pubmed
    ..G1129A (R163Q) at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, were investigated in a total of 1,809 individuals in 16 populations from ..
  11. Grønskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K, et al. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci. 2009;50:1058-64 pubmed publisher
    ..The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism...
  12. Shriver M, Parra E, Dios S, Bonilla C, Norton H, Jovel C, et al. Skin pigmentation, biogeographical ancestry and admixture mapping. Hum Genet. 2003;112:387-99 pubmed
    ..We have also applied two methods of admixture mapping to test for the effects of three candidate genes (TYR, OCA2, MC1R) on pigmentation...
  13. Kato A, Fukai K, Oiso N, Hosomi N, Saitoh S, Wada T, et al. A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). J Dermatol Sci. 2003;31:189-92 pubmed
    ..The A481T has previously been shown to result in partial function of the P protein. The Q799H mutation is not a common polymorphism among normal Japanese, seems most likely to be a pathological ..
  14. Preising M, Forster H, Tan H, Lorenz B, De Jong P, Plomp A. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. Mol Vis. 2007;13:1851-5 pubmed
    ..To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported...
  15. Branicki W, Brudnik U, Kupiec T, Wolańska Nowak P, Szczerbinska A, Wojas Pelc A. Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method. Ann Hum Genet. 2008;72:184-92 pubmed
    ..A number of genes are considered to affect normal variation in human pigmentation. Recent studies have indicated that OCA2 is the crucial gene involved in the high variation of iris colour present among populations of European descent...
  16. Duffy D, Zhao Z, Sturm R, Hayward N, Martin N, Montgomery G. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol. 2010;130:520-8 pubmed publisher
    ..described the role of red hair (melanocortin-1 receptor, MC1R) and blue eye (oculocutaneous albinism type II, OCA2) gene polymorphisms in modulating the risk of cutaneous malignant melanoma (CMM) in a highly sun-exposed population ..
  17. Wei A, Zang D, Zhang Z, Yang X, Li W. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. J Genet Genomics. 2015;42:279-86 pubmed publisher
    ..counseling of 51 Chinese OCA families (39 OCA-1 with mutations in the TYR gene, 6 OCA-2 with mutations in the OCA2 gene, 4 OCA-4 with mutations in the SLC45A2 gene, 1 HPS-1 (Hermansky-Pudlak syndrome-1) with mutation in the HPS1 ..
  18. Wang Y, Zhou Y, Shen N, Zhu Y, Tan K, Wang X. Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1. Curr Med Sci. 2018;38:932-936 pubmed publisher
    ..Mutations of TYR, OCA2, and SLC45A2 genes were examined in the proband, and verified in her parents by Sanger sequencing...
  19. Kondo T, Namiki T, Coelho S, Valencia J, Hearing V. Oculocutaneous albinism: developing novel antibodies targeting the proteins associated with OCA2 and OCA4. J Dermatol Sci. 2015;77:21-7 pubmed publisher
    Patients with oculocutaneous albinism (OCA) have severely decreased pigmentation of their skin, hair and eyes. OCA2 and OCA4 result from mutations of the OCA2 and SLC45A2 genes, respectively, both of which disrupt the trafficking of the ..
  20. Ishikawa A, Sugiyama M, Hondo E, Kinoshita K, Yamagishi Y. Development of a novel pink-eyed dilution mouse model showing progressive darkening of the eyes and coat hair with aging. Exp Anim. 2015;64:207-20 pubmed publisher
    b>Oca2(p-cas) (oculocutaneous albinism II; pink-eyed dilution castaneus) is a coat color mutant gene on mouse chromosome 7 that arose spontaneously in wild Mus musculus castaneus mice...
  21. Fábos B, Farkas K, Tóth L, Sulák A, Tripolszki K, Tihanyi M, et al. Delineating the genetic heterogeneity of OCA in Hungarian patients. Eur J Med Res. 2017;22:20 pubmed publisher
    ..The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4...
  22. Caduff M, Bauer A, Jagannathan V, Leeb T. OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. PLoS ONE. 2017;12:e0185944 pubmed publisher
    ..Comparative sequence analyses revealed that LOC100855460 actually represents the 5'-end of the canine OCA2 gene. The CanFam 3...
  23. Grønskov K, Jespersgaard C, Bruun G, Harris P, Brøndum Nielsen K, Andresen B, et al. A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1. Sci Rep. 2019;9:645 pubmed publisher
    ..Six genes are associated with autosomal recessive OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and LRMDA), and one gene, GPR143, is associated with X-linked ocular albinism (OA)...
  24. He J, Zheng M, Zhang G, Hua A. [Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32:509-11 pubmed publisher
    ..All exons of the non-syndromic albinism related genes TYR, OCA2, TYRP-1, MITF, SLC45A2 and GPR143 were subjected to deep sequencing...
  25. Ma L, Jeffery W, Essner J, Kowalko J. Genome editing using TALENs in blind Mexican Cavefish, Astyanax mexicanus. PLoS ONE. 2015;10:e0119370 pubmed publisher
    ..cavefish relative to surface fish and map to the same location as QTL for pigmentation, oculocutaneous albinism 2 (oca2) and melanocortin 1 receptor (mc1r). We found that surface fish genes can be mutated using this method...
  26. Norman C, O Gorman L, Gibson J, Pengelly R, Baralle D, Ratnayaka J, et al. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). Sci Rep. 2017;7:4415 pubmed publisher
    ..This is also the case for other OCA subtypes including OCA2 caused by mutations in the OCA2 gene...
  27. Shekar S, Duffy D, Frudakis T, Sturm R, Zhao Z, Montgomery G, et al. Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2. J Invest Dermatol. 2008;128:2807-14 pubmed publisher
    ..14). However, the most consistent linkage peak was over the gene oculocutaneous albinism type II (OCA2) on chromosome 15...
  28. Becker F, Schubert J, Weckhuysen S, Suls A, Grüninger S, Korn Merker E, et al. Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?. Epilepsy Res. 2015;114:47-51 pubmed publisher
    ..transporter deficiency syndrome (Glut1-DS) as the most severe form, the paroxysmal exertion-induced dyskinesia (PED), a form of spastic paraparesis (CSE) as well as the childhood (CAE) and the early-onset absence epilepsy (EOAE)...
  29. Launay E, Levieux K, Levy C, Dubos F, Martinot A, Vrignaud B, et al. Compliance with the current recommendations for prescribing antibiotics for paediatric community-acquired pneumonia is improving: data from a prospective study in a French network. BMC Pediatr. 2016;16:126 pubmed publisher
    ..with antibiotic prescription recommendations for children admitted in paediatric emergency department (PED) with community-acquired pneumonia (CAP)...
  30. Sasaki Y, Toyomaki H, Sekiguchi S, Sueyoshi M, Makita K, Otake S, et al. Spatial dynamics of porcine epidemic diarrhea (PED) spread in the southern Kyushu, Japan. Prev Vet Med. 2017;144:81-88 pubmed publisher
    Porcine epidemic diarrhea (PED) was detected for the first time in seven years in Japan in October 2013 in Okinawa Prefecture...
  31. Peitz G, Kura B, Johnson J, Grandhi R. Transradial Approach for Deployment of a Flow Diverter for an Intracranial Aneurysm in a Patient with a Type-3 Aortic Arch. J Vasc Interv Neurol. 2017;9:42-44 pubmed
    Flow diversion with the Pipeline embolization device (PED) is an effective treatment for giant and wide-neck intracranial aneurysms, but the standard transfemoral approach may not be feasible in patients with Type-3 aortic arches.
  32. Grigoropoulos V, Emfietzoglou J, Nikolaidis P, Theodossiadis G, Theodossiadis P. Full-thickness macular hole after intravitreal injection of ranibizumab in a patient with retinal pigment epithelium detachment and tear. Eur J Ophthalmol. 2010;20:469-72 pubmed
    To report a case of full-thickness macular hole (FTMH) after intravitreal injection of ranibizumab in a patient with retinal pigment epithelium detachment (PED) and tear.
  33. Ibarrola Villava M, Fernandez L, Pita G, Bravo J, Floristan U, Sendagorta E, et al. Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2. Exp Dermatol. 2010;19:836-44 pubmed publisher
    ..The OCA2 gene has emerged as a new and significant determinant of human iris colour variation...
  34. Siordia C, Covington Ward Y. Association between Perceived Ethnic Discrimination and Health: Evidence from the National Latino and Asian American Study (NLAAS). J Frailty Aging. 2016;5:111-7 pubmed publisher
    ..to the literature by investigating the quantitative relationship between Perceived Ethnic Discrimination (PED), Self-Rated Physical Health (SR-PH), Self-Rated Mental Health (SR-MH), and their combined score (SR-PH-MH)...
  35. Gordon R, Bloxham S. Influence of the Fitbit Charge HR on physical activity, aerobic fitness and disability in non-specific back pain participants. J Sports Med Phys Fitness. 2017;57:1669-1675 pubmed publisher
    ..Seventeen participants volunteered and were provided with Fitbit Charge HR (FIT N.=9) or pedometer (PED N.=8). Participants completed a 6-week, multi-component, PA programme lasting two hours per week...
  36. Proost D, Saenen J, Vandeweyer G, Rotthier A, Alaerts M, Van Craenenbroeck E, et al. Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease. J Mol Diagn. 2017;19:445-459 pubmed publisher
    Primary electrical disease (PED) is characterized by cardiac arrhythmias, which can lead to sudden cardiac death in the absence of detectable structural heart disease...
  37. Jensen R, Sim X, Smith A, Li X, Jakobsdottir J, Cheng C, et al. Novel Genetic Loci Associated With Retinal Microvascular Diameter. Circ Cardiovasc Genet. 2016;9:45-54 pubmed publisher
    ..27), rs5442 in GNB3 (P=7.0×10(-10); minor allele frequency=0.05), and rs1800407 in OCA2 (P=3.4×10(-8); minor allele frequency=0.05)...
  38. Türk Çulha S, Dereli H, Karaduman F, Culha M. Assessment of trace metal contamination in the sea cucumber (Holothuria tubulosa) and sediments from the Dardanelles Strait (Turkey). Environ Sci Pollut Res Int. 2016;23:11584-97 pubmed publisher
    ..1788) belonging to Echinoderm species and in sediments that they live at three different stations (Gelibolu, Umur Bey/Lapseki, and Dardanos) on Dardanelles Strait between April 2013 and March 2014...
  39. Tusell L, Gilbert H, Riquet J, Mercat M, Legarra A, Larzul C. Pedigree and genomic evaluation of pigs using a terminal-cross model. Genet Sel Evol. 2016;48:32 pubmed publisher
    ..As benchmarks, we used a model that was identical to GEN but only accounted for pedigree information (PED) and also two univariate single-step models (GEN_UNI) that took either purebred or crossbred performance into ..
  40. Fu W, Xia Q, Yan R, Qiao A. Numerical investigations of the mechanical properties of braided vascular stents. Biomed Mater Eng. 2018;29:81-94 pubmed publisher
    Braided stents, such as Pipeline Embolization Device (PED; ev3 Neurovascular, Irvine, CA, USA), are commonly used to treat cerebral aneurysms...
  41. Rennie I. Don't it make my blue eyes brown: heterochromia and other abnormalities of the iris. Eye (Lond). 2012;26:29-50 pubmed publisher
    ..In this paper I shall discuss the anatomy and genetics of normal eye colour, together with a wide and diverse range of conditions that may produce an alteration in normal iris pigmentation or form...
  42. Lotery A, Griner R, Ferreira A, Milnes F, Dugel P. Real-world visual acuity outcomes between ranibizumab and aflibercept in treatment of neovascular AMD in a large US data set. Eye (Lond). 2017;31:1697-1706 pubmed publisher
    ..in neovascular age-related macular degeneration (nAMD) eyes, including those with pigment epithelial detachment (PED), receiving ranibizumab or aflibercept...
  43. Zhao Y, Li Z, Liu J, Hu C, Zhang H, Qin B, et al. Intermolecular vibrational modes and H-bond interactions in crystalline urea investigated by terahertz spectroscopy and theoretical calculation. Spectrochim Acta A Mol Biomol Spectrosc. 2018;189:528-534 pubmed publisher
    ..torsional modes related to the intermolecular H-bond interactions with the help of potential energy distribution (PED) method...
  44. Ludowese C, Thompson K, Sekhon G, Pauli R. Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet. 1991;40:194-201 pubmed
    ..Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent. ..
  45. Xu Y, Yan K, Kim J, Wang X, Li C, Su L, et al. Dual-stage deep learning framework for pigment epithelium detachment segmentation in polypoidal choroidal vasculopathy. Biomed Opt Express. 2017;8:4061-4076 pubmed publisher
    ..vasculopathy (PCV) is a common vision-threatening exudative maculopathy, and pigment epithelium detachment (PED) is an important clinical characteristic...
  46. Brilliant M. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 2001;14:86-93 pubmed
    ..Mice lacking a functional p protein have pink eyes and light gray fur (if non-agouti) or cream-colored fur (if agouti)...
  47. Myrmel M, Lange H, Rimstad E. A 1-Year Quantitative Survey of Noro-, Adeno-, Human Boca-, and Hepatitis E Viruses in Raw and Secondarily Treated Sewage from Two Plants in Norway. Food Environ Virol. 2015;7:213-23 pubmed publisher
  48. Koh H, Kim M, Lee J, Kim H, Park S. Changes in the Swine Gut Microbiota in Response to Porcine Epidemic Diarrhea Infection. Microbes Environ. 2015;30:284-7 pubmed publisher
    ..We herein attempted to identify a microbiota shift that may be affected by porcine epidemic diarrhea (PED)...
  49. Patel A, Griessenauer C, Ogilvy C, Thomas A. Biaxial system using the Benchmark intracranial guide catheter for placement of a Pipeline Embolization Device for intracranial aneurysms. Interv Neuroradiol. 2016;22:402-6 pubmed publisher
    ..system consistent with the Benchmark and Marksman microcatheter for placement of a Pipeline embolization device (PED) for intracranial aneurysms...
  50. Klaassen H, Wang Y, Adamski K, Rohner N, Kowalko J. CRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus. Dev Biol. 2018;441:313-318 pubmed publisher
    ..the CRISPR/Cas9 genome editing techniques to characterize the effects of mutations in oculocutaneous albinism II (oca2), a candidate gene hypothesized to be responsible for the evolution of albinism in A. mexicanus cave populations...
  51. Ricci F, Parravano M, Regine F, Sciamanna M, Tedeschi M, Missiroli F, et al. Aflibercept in persistent neovascular AMD: comparison of different treatment strategies in switching therapy. Eye (Lond). 2016;30:1077-83 pubmed publisher
    ..BCVA improvement and reduction in vision loss with reduction in retinal thickness, fluid and PED height was achieved with the fixed regimen in previously treated nAMD after 1 year.
  52. Islam M, Kubota T, Ujike M, Yahara Y, Taguchi F. Phylogenetic and antigenic characterization of newly isolated porcine epidemic diarrhea viruses in Japan. Virus Res. 2016;222:113-119 pubmed publisher
    To evaluate the mechanism by which a large outbreak of porcine epidemic diarrhea (PED) occurred in Japan, where the majority of sows are vaccinated, we isolated two new strains of PED virus (PEDV) from the intestines of piglets and found ..
  53. Adams S, Abel M, Fowler D, Braden J, Ebeling M, Simpson A, et al. Inhaled corticosteroid prescribing in a pediatric emergency department: Sustained success and prescription filling rates. J Asthma. 2017;:1-7 pubmed publisher
    To determine if improvement in Inhaled Corticosteroid (ICS) prescribing in the pediatric emergency department (PED) can be sustained after transition from intense intervention to low-intervention phase, and to determine ICS fill rates.
  54. Orjuela L, Ahumada M, Avila I, Herrera S, Beier J, Quiñones M. Human biting activity, spatial-temporal distribution and malaria vector role of Anopheles calderoni in the southwest of Colombia. Malar J. 2015;14:256 pubmed publisher
    ..entomological study in 22 localities between 2011 and 2012, and a longitudinal study was performed in the Boca de Prieta locality in Olaya Herrera municipality between July 2012 and June 2013. All mosquitoes determined as An...
  55. Yurdakul Å, BadoÄŸlu S, Özkurt L. An experimental and theoretical investigation of free Oxazole in conjunction with the DFT analysis of Oxazole⋯(Hâ‚‚O)n complexes. Spectrochim Acta A Mol Biomol Spectrosc. 2016;162:48-60 pubmed publisher
    ..This spectrum is interpreted with the help of B3LYP/6-311++G(d,p) calculations and potential energy distribution (PED) analysis. The experimental spectrum is concordant with the theoretical data...
  56. Park J, Talukder A, Lim S, Kim K, Pan K, Melendez B, et al. SLC45A2: A Melanoma Antigen with High Tumor Selectivity and Reduced Potential for Autoimmune Toxicity. Cancer Immunol Res. 2017;5:618-629 pubmed publisher
    ..i>Cancer Immunol Res; 5(8); 618-29. ©2017 AACR. ..
  57. Belsham G, Rasmussen T, Normann P, Václavek P, Strandbygaard B, Bøtner A. Characterization of a Novel Chimeric Swine Enteric Coronavirus from Diseased Pigs in Central Eastern Europe in 2016. Transbound Emerg Dis. 2016;63:595-601 pubmed publisher
    ..indicate that SeCoV is continuing to circulate in Europe and suggest it can cause a disease that is very similar to PED. Specific detection of the chimeric SeCoVs either requires development of a new diagnostic RT-qPCR assay or the ..
  58. Lowrie M, Garosi L. Classification of involuntary movements in dogs: Paroxysmal dyskinesias. Vet J. 2017;220:65-71 pubmed publisher
    ..dyskinesia (PKD); (2) paroxysmal nonkinesigenic dyskinesia (PNKD); and (3) paroxysmal exertion-induced dyskinesia (PED)...
  59. Stemberger Maric L, Papic N, Sestan M, Knezović I, Tesovic G. Challenges in early diagnosis of Kawasaki disease in the pediatric emergency department: differentiation from adenoviral and invasive pneumococcal disease. Wien Klin Wochenschr. 2018;130:264-272 pubmed publisher
    ..KD) from other febrile infectious diseases is one of the biggest challenges in pediatric emergency departments (PED)...
  60. Guedj M, Bourillon A, Combadières C, Rodero M, Dieude P, Descamps V, et al. Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Hum Mutat. 2008;29:1154-60 pubmed publisher
    In this study, we investigated whether variants in three key pigmentation genes-MC1R, MATP/SLC45A2, and OCA2--were involved in melanoma predisposition...
  61. Sasaki Y, Kawabata T, Noguchi M. The effect of porcine epidemic diarrhea (PED) on ovarian function and reproductive performance after weaning in Berkshire sows. Trop Anim Health Prod. 2017;49:879-882 pubmed publisher
    ..the ovarian condition at weaning and subsequent reproductive performance of Berkshire sows following an outbreak of PED. This study was conducted on a farrow-to-finish farm that experienced a PED outbreak beginning on January 6, 2014...
  62. Querques G, Bux A, Delle Noci N. Foveal geographic atrophy following intravitreal pegaptanib sodium (Macugen) for drusenoid pigment epithelium detachment. Eur J Ophthalmol. 2009;19:890-3 pubmed
    To describe a patient with nonexudative age-related macular degeneration (AMD) who underwent intravitreal pegaptanib sodium injection for drusenoid pigment epithelium detachment (PED).
  63. Quintavalle C, Hindupur S, Quagliata L, Pallante P, Nigro C, Condorelli G, et al. Phosphoprotein enriched in diabetes (PED/PEA15) promotes migration in hepatocellular carcinoma and confers resistance to sorafenib. Cell Death Dis. 2017;8:e3138 pubmed publisher
    ..Here, we analyzed the role of phosphoprotein enriched in diabetes (PED) in HCC. PED has been shown to regulate cell proliferation, apoptosis and migration in several types of cancer...
  64. Sitaram A, Piccirillo R, Palmisano I, Harper D, Dell Angelica E, Schiaffino M, et al. Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function. Mol Biol Cell. 2009;20:1464-77 pubmed publisher
    Oculocutaneous albinism type 2 is caused by defects in the gene OCA2, encoding a pigment cell-specific, 12-transmembrane domain protein with homology to ion permeases...
  65. Eaton K, Edwards M, Krithika S, Cook G, Norton H, Parra E. Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations. Am J Hum Biol. 2015;27:520-5 pubmed publisher
    ..Two nonsynonymous variants selected within the OCA2 gene, rs1800414 (His615Arg) and rs74653330 (Ala481Thr), were significantly associated with melanin levels in the ..
  66. Campos Polo R, Rubio Sánchez C. Anti-VEGF and its impact on the outer retina: retinal pigment epithelium tear after an injection of aflibercept in contralateral eye. Arch Soc Esp Oftalmol. 2016;91:245-9 pubmed publisher
    A 62-year-old woman with a history of bilateral retinal pigment epithelium detachment (PED), secondary of age-related macular degeneration (AMD), who presented with a retinal pigment epithelium (RPE) tear on her left eye after an ..
  67. Renugadevi K, Sil A, Perumalsamy V, Sundaresan P. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. Mol Vis. 2010;16:1514-24 pubmed
    ..The purpose of this study was to screen known candidate genes for oculocutaneous albinism (OCA) and ocular albinism (OA) mutations in Indian patients...
  68. Watanabe B, Yamamoto S, Yokoi T, Sugiura A, Horoiwa S, Aoki T, et al. Brassinolide-like activity of castasterone analogs with varied side chains against rice lamina inclination. Bioorg Med Chem. 2017;25:4566-4578 pubmed publisher
    ..The reciprocal logarithm of ED50 (pED50) was decreased dramatically upon deletion of the C-28 methyl group of CS...
  69. Jin C, Guan M, Dong M, Wu J, He Z, Chen X, et al. Aberrant baseline brain activity in psychogenic erectile dysfunction patients: a resting state fMRI study. Brain Imaging Behav. 2018;12:1393-1404 pubmed publisher
    ..Psychogenic erectile dysfunction (pED) consists of a major part of male sexual dysfunction in China, but the understanding of the central mechanism of ..
  70. Ramsay M, Colman M, Stevens G, Zwane E, Kromberg J, Farrall M, et al. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet. 1992;51:879-84 pubmed
    ..2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous. ..
  71. Abe Y, Tamiya G, Nakamura T, Hozumi Y, Suzuki T. Association of melanogenesis genes with skin color variation among Japanese females. J Dermatol Sci. 2013;69:167-72 pubmed publisher
    ..We examined the association between 12 variants of four pigmentation-related genes (TYR, OCA2, SLC45A2, MC1R) and variations in the melanin index of 456 Japanese females using a multiple regression analysis...
  72. Brasiliense L, Aguilar Salinas P, Miller D, Tawk R, Sauvageau E, Hanel R. Analysis of Predictors and Probability of Aneurysm Occlusion in the Internal Carotid Artery After Treatment with Pipeline Embolization Device. World Neurosurg. 2017;107:641-648 pubmed publisher
    Although the Pipeline Embolization Device (PED) has proved to be an excellent option for internal carotid artery (ICA) aneurysms, the rate of occlusion remains difficult to predict and factors associated with aneurysm occlusion are not ..
  73. Texakalidis P, Bekelis K, Atallah E, Tjoumakaris S, Rosenwasser R, Jabbour P. Flow diversion with the pipeline embolization device for patients with intracranial aneurysms and antiplatelet therapy: A systematic literature review. Clin Neurol Neurosurg. 2017;161:78-87 pubmed publisher
    Flow diversion with the Pipeline Embolization Device (PED) is reported as a safe and efficient treatment for patients with intracranial aneurysms; however, literature discussing the antiplatelet (APT) regimen used before and after the ..
  74. Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, et al. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. Gene. 2014;537:79-84 pubmed publisher
    ..OCA type II (OCA2) is one of the four commonly-recognized forms of albinism, and is determined by mutation in the OCA2 gene...
  75. Kuruvilla T, Prasana J, Muthu S, George J, Mathew S. Quantum mechanical and spectroscopic (FT-IR, FT-Raman) study, NBO analysis, HOMO-LUMO, first order hyperpolarizability and molecular docking study of methyl[(3R)-3-(2-methylphenoxy)-3-phenylpropyl]amine by density functional method. Spectrochim Acta A Mol Biomol Spectrosc. 2018;188:382-393 pubmed publisher
    ..The vibrational assignments and the calculation of Potential Energy Distribution (PED) were carried out using the Vibrational Energy Distribution Analysis (VEDA) software...
  76. Allie E, Dingle H, Johnson W, Birnbaum J, Hilmes M, Singh S, et al. ED chest radiography for children with asthma exacerbation is infrequently associated with change of management. Am J Emerg Med. 2018;36:769-773 pubmed publisher
    Acute asthma exacerbations (AAE) account for many Pediatric Emergency Department (PED) visits. Chest radiography (CXR) is often performed in these patients to identify practice-changing findings such as pneumonia (PNA)...
  77. Spritz R, Lee S, Fukai K, Brondum Nielsen K, Chitayat D, Lipson M, et al. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). Hum Mutat. 1997;10:175-7 pubmed
  78. Manga P, Orlow S. Inverse correlation between pink-eyed dilution protein expression and induction of melanogenesis by bafilomycin A1. Pigment Cell Res. 2001;14:362-7 pubmed
    ..Bafilomycin A1 has also been reported to induce pigmentation of normal Caucasian melanocytes. Based on these data we hypothesize that p may serve as a key control point at which ethnic skin color variation is determined. ..
  79. Oetting W, Garrett S, Brott M, King R. P gene mutations associated with oculocutaneous albinism type II (OCA2). Hum Mutat. 2005;25:323 pubmed
    ..The specific function of the P protein is currently unknown but is thought to be involved in tyrosinase processing and transport...
  80. Rosenmann A, Bejarano Achache I, Eli D, Maftsir G, Mizrahi Meissonnier L, Blumenfeld A. Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families. Prenat Diagn. 2009;29:939-46 pubmed publisher
    ..Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism. ..
  81. Woll C, Smith P, Fox J. Epidemiology of preoperative hematologic assessment of children cared for in a pediatric emergency department. Am J Emerg Med. 2018;36:33-37 pubmed publisher
    To assess frequency of preoperative hematologic testing in a tertiary care pediatric emergency department (PED) and how often these values predict clinical outcome or change management decisions...
  82. Lee S, Nicholls R, Schnur R, Guida L, Lu Kuo J, Spinner N, et al. Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet. 1994;3:2047-51 pubmed
    Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes...
  83. Santiago Borrero P, Rodríguez Pérez Y, Renta J, Izquierdo N, Del Fierro L, Munoz D, et al. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006;126:85-90 pubmed
    ..We describe screening 229 Puerto Rican OCA patients for these mutations, and for mutations in the OCA2 gene. We found the HPS1 mutation in 42.8% of cases, the HPS3 deletion in 17%, the TYR G47D mutation in 3...
  84. Fernandez L, Milne R, Pita G, Floristan U, Sendagorta E, Feito M, et al. Pigmentation-related genes and their implication in malignant melanoma susceptibility. Exp Dermatol. 2009;18:634-42 pubmed publisher
    ..with congenital pigmentation syndromes (ADTB3A, ATRN, CHS1, EDNRB, HPS, KIT, MGRN1, MITF, MLANA, MYO5A, MYO7A, OA1, OCA2, PAX3 and SOX10) were selected...
  85. Johanson H, Chen W, Wicking C, Sturm R. Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community. J Hum Genet. 2010;55:103-11 pubmed publisher
    Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene...
  86. Scherer D, Kumar R. Genetics of pigmentation in skin cancer--a review. Mutat Res. 2010;705:141-53 pubmed publisher
    ..signalling protein (ASIP), tyrosinase (TYR), tyrosinase-related protein 1 (TYRP1), oculocutaneous albinism II (OCA2), various solute carrier genes and transporters...
  87. Hawkes J, Cassidy P, Manga P, Boissy R, Goldgar D, Cannon Albright L, et al. Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree. J Dermatol Sci. 2013;69:30-7 pubmed publisher
    Oculocutaneous albinism type 2 (OCA2) is caused by mutations of the OCA2 gene...
  88. Masui S, Nakatome M, Matoba R. Variants of the melanocortin 1 receptor gene (MC1R) and P gene as indicators of the population origin of an individual. Int J Legal Med. 2009;123:205-11 pubmed publisher
    ..This study indicates that the specific combination of a genotype and a diplotype group would be effective in estimating the population origin of an individual from a list of population groups. ..
  89. Demirel S, Yanik O, Nalcı H, Batioglu F, Ozmert E. The use of optical coherence tomography angiography in pachychoroid spectrum diseases: a concurrent comparison with dye angiography. Graefes Arch Clin Exp Ophthalmol. 2017;255:2317-2324 pubmed publisher
    ..CNV) in patients presenting with pachychoroid features and flat irregular pigment epithelial detachment (PED)...
  90. White D, Rabago Smith M. Genotype-phenotype associations and human eye color. J Hum Genet. 2011;56:5-7 pubmed publisher
    ..domain and RCC1-like domain-containing protein 2 (HERC2) and ocular albinism (that is, oculocutaneous albinism II (OCA2)). An intron in HERC2 contains the promoter region for OCA2, affecting its expression...
  91. Herzog K, Pras Raves M, Ferdinandusse S, Vervaart M, Luyf A, van Kampen A, et al. Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics. J Inherit Metab Dis. 2018;41:479-487 pubmed publisher
    ..We defined specific phospholipid ratios reflecting the different enzyme defects, which can be used to discriminate the PED fibroblasts from healthy control cells.