| 1 |
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
57
6
|
Eiberg H...Hansen L
|
18172690 |
2008 |
| 2 |
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
6
57
|
Sturm RA...Montgomery GW
|
18252222 |
2008 |
| 3 |
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
57
6
|
Kayser M...van Duijn CM
|
18252221 |
2008 |
| 4 |
Genetic determinants of hair, eye and skin pigmentation in Europeans.
6
57
|
Sulem P...Stefansson K
|
17952075 |
2007 |
| 5 |
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
6
57
|
Duffy DL...Sturm RA
|
17236130 |
2007 |
| 6 |
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
57
6
|
Jannot AS...Melan-Cohort
|
15889046 |
2005 |
| 7 |
P gene as an inherited biomarker of human eye color.
57
6
|
Rebbeck TR...Guerry D
|
12163334 |
2002 |
| 8 |
Loci associated with skin pigmentation identified in African populations.
57
|
Crawford NG...Tishkoff SA
|
29025994 |
2017 |
| 9 |
A global view of the OCA2-HERC2 region and pigmentation.
57
|
Donnelly MP...Kidd KK
|
22065085 |
2012 |
| 10 |
HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.
6
|
Visser M...Palstra RJ
|
22234890 |
2012 |
| 11 |
Gene-gene interactions contribute to eye colour variation in humans.
57
|
Pospiech E...Branicki W
|
21471978 |
2011 |
| 12 |
A genomewide association study of skin pigmentation in a South Asian population.
57
|
Stokowski RP...Cox DR
|
17999355 |
2007 |
| 13 |
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians.
57
|
Norton HL...Shriver MD
|
17182896 |
2007 |
| 14 |
Identifying genes underlying skin pigmentation differences among human populations.
57
|
Myles S...Stoneking M
|
16977434 |
2007 |
| 15 |
Replicated linkage for eye color on 15q using comparative ratings of sibling pairs.
57
|
Posthuma D...Boomsma DI
|
16341609 |
2006 |
| 16 |
A haplotype map of the human genome.
57
|
International HapMap Consortium
|
16255080 |
2005 |
| 17 |
Eye colour: portals into pigmentation genes and ancestry.
57
|
Sturm RA...Frudakis TN
|
15262401 |
2004 |
| 18 |
Sequences associated with human iris pigmentation.
57
|
Frudakis T...Ponnuswamy KN
|
14704187 |
2003 |
| 19 |
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
6
|
Passmore LA...Weber BH
|
10987646 |
1999 |
| 20 |
Hemispheric difference in human skin color.
57
|
Relethford JH
|
9453695 |
1997 |
| 21 |
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.
6
|
Sviderskaya EV...Spritz RA
|
8980282 |
1997 |
| 22 |
Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q.
57
|
Eiberg H...Mohr J
|
8875191 |
1996 |
| 23 |
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
6
|
Lee ST...Spritz RA
|
8302318 |
1994 |
| 24 |
Major genes of eye color and hair color linked to LU and SE.
57
|
Eiberg H...Mohr J
|
3568446 |
1987 |
| 25 |
HEREDITY OF EYE-COLOR IN MAN.
57
|
Davenport GC...Davenport CB
|
17754423 |
1907 |
| 26 |
Monocyte Adhesion and Plaque Recruitment During Atherosclerosis Development Is Regulated by the Adapter Protein Chat-H/SHEP1.
61
|
Herbin O...Alexandropoulos K
|
27417580 |
2016 |
| 27 |
TRAIL resistance in human neuroblastoma SK-N-AS cells is dependent on protein kinase C and involves inhibition of caspase-3 proteolytic processing.
61
|
Gatsinzi T...Iverfeldt K
|
22798207 |
2012 |
| 28 |
α4β2 nicotinic receptors partially mediate anti-inflammatory effects through Janus kinase 2-signal transducer and activator of transcription 3 but not calcium or cAMP signaling.
61
|
Hosur V...Loring RH
|
20943775 |
2011 |
| 29 |
The SH2 domain protein Shep1 regulates the in vivo signaling function of the scaffolding protein Cas.
61
|
Roselli S...Pasquale EB
|
20603213 |
2010 |
| 30 |
SHEP1 partners with CasL to promote marginal zone B-cell maturation.
61
|
Browne CD...Rickert RC
|
20956287 |
2010 |
| 31 |
The SRC homology 2 domain protein Shep1 plays an important role in the penetration of olfactory sensory axons into the forebrain.
61
|
Wang L...Pasquale EB
|
20881139 |
2010 |
| 32 |
Activation of Sonic hedgehog signaling pathway in S-type neuroblastoma cell lines.
61
|
Zhou Y...Hu B
|
20556567 |
2010 |
| 33 |
Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a gene family involved in integrin and receptor tyrosine kinase signaling.
61
|
Vervoort VS...Pasquale EB
|
17270363 |
2007 |
| 34 |
Molecular determinants for interaction of SHEP1 with Cas localize to a highly solvent-protected region in the complex.
61
|
Derunes C...Ely KR
|
16364304 |
2006 |
| 35 |
SHEP1 function in cell migration is impaired by a single amino acid mutation that disrupts association with the scaffolding protein cas but not with Ras GTPases.
61
|
Dail M...Pasquale EB
|
15272013 |
2004 |
| 36 |
beta-Amyloid directly inhibits human alpha4beta2-nicotinic acetylcholine receptors heterologously expressed in human SH-EP1 cells.
61
|
Wu J...Lukas RJ
|
15234980 |
2004 |
| 37 |
Characterization of human alpha 4 beta 2-nicotinic acetylcholine receptors stably and heterologously expressed in native nicotinic receptor-null SH-EP1 human epithelial cells.
61
|
Eaton JB...Lukas RJ
|
14645658 |
2003 |
| 38 |
A novel signaling intermediate, SHEP1, directly couples Eph receptors to R-Ras and Rap1A.
61
|
Dodelet VC...Pasquale EB
|
10542222 |
1999 |
