Melanocytes and their diseases
Y Yamaguchi, VJ Hearing - Cold Spring …, 2014 - perspectivesinmedicine.cshlp.org
Human melanocytes are distributed not only in the epidermis and in hair follicles but also in
mucosa, cochlea (ear), iris (eye), and mesencephalon (brain) among other tissues …
mucosa, cochlea (ear), iris (eye), and mesencephalon (brain) among other tissues …
Multifaceted pathways protect human skin from UV radiation
VT Natarajan, P Ganju, A Ramkumar, R Grover… - Nature chemical …, 2014 - nature.com
The recurrent interaction of skin with sunlight is an intrinsic constituent of human life, and
exhibits both beneficial and detrimental effects. The apparent robust architectural framework …
exhibits both beneficial and detrimental effects. The apparent robust architectural framework …
[HTML][HTML] CRISPR-Cas9 knockin mice for genome editing and cancer modeling
CRISPR-Cas9 is a versatile genome editing technology for studying the functions of genetic
elements. To broadly enable the application of Cas9 in vivo, we established a Cre …
elements. To broadly enable the application of Cas9 in vivo, we established a Cre …
Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression
Introduction Many genetic variants associated with common disease susceptibility occur
close to immune-related genes in noncoding DNA, suggestive of a regulatory function. The …
close to immune-related genes in noncoding DNA, suggestive of a regulatory function. The …
[PDF][PDF] Aicardi-Goutieres syndrome is caused by IFIH1 mutations
H Oda, K Nakagawa, J Abe, T Awaya… - The American Journal of …, 2014 - cell.com
Aicardi-Goutières syndrome (AGS) is a rare, genetically determined early-onset progressive
encephalopathy. To date, mutations in six genes have been identified as etiologic for AGS …
encephalopathy. To date, mutations in six genes have been identified as etiologic for AGS …
[HTML][HTML] Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease
M Medici, E Porcu, G Pistis, A Teumer, SJ Brown… - PLoS …, 2014 - journals.plos.org
Autoimmune thyroid diseases (AITD) are common, affecting 2-5% of the general population.
Individuals with positive thyroid peroxidase antibodies (TPOAbs) have an increased risk of …
Individuals with positive thyroid peroxidase antibodies (TPOAbs) have an increased risk of …
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy
Birdshot chorioretinopathy (BSCR) is a rare form of autoimmune uveitis that can lead to
severe visual impairment. Intriguingly,> 95% of cases carry the HLA-A29 allele, which …
severe visual impairment. Intriguingly,> 95% of cases carry the HLA-A29 allele, which …
[HTML][HTML] Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases
Many complex human diseases are highly sexually dimorphic, suggesting a potential
contribution of the X chromosome to disease risk. However, the X chromosome has been …
contribution of the X chromosome to disease risk. However, the X chromosome has been …
Wearing red for signaling: the heme-bach axis in heme metabolism, oxidative stress response and iron immunology
K Igarashi, M Watanabe-Matsui - The Tohoku journal of experimental …, 2014 - jstage.jst.go.jp
The connection between gene regulation and metabolism is an old issue that warrants
revisiting in order to understand both normal as well as pathogenic processes in higher …
revisiting in order to understand both normal as well as pathogenic processes in higher …
BACH2, a candidate risk gene for type 1 diabetes, regulates apoptosis in pancreatic β-cells via JNK1 modulation and crosstalk with the candidate gene PTPN2
Type 1 diabetes is a chronic autoimmune disease characterized by specific destruction of
pancreatic β-cells by the immune system. Linkage and genome-wide association studies …
pancreatic β-cells by the immune system. Linkage and genome-wide association studies …