The biology and therapeutic targeting of the proprotein convertases
NG Seidah, A Prat - Nature reviews Drug discovery, 2012 - nature.com
The mammalian proprotein convertases constitute a family of nine secretory serine
proteases that are related to bacterial subtilisin and yeast kexin. Seven of these (proprotein …
proteases that are related to bacterial subtilisin and yeast kexin. Seven of these (proprotein …
The biology and clinical implications of PCSK7
V Sachan, D Susan-Resiga, K Lam… - Endocrine …, 2024 - academic.oup.com
Discovered in 1996, PCSK7 is the seventh of the nine-membered proprotein convertase
subtilisin-kexin (PCSK) family. This article reviews the various aspects of the multifaceted …
subtilisin-kexin (PCSK) family. This article reviews the various aspects of the multifaceted …
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an
increasingly common cause of blindness. This genome-wide association meta-analysis in …
increasingly common cause of blindness. This genome-wide association meta-analysis in …
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks
Low-frequency coding DNA sequence variants in the proprotein convertase subtilisin/kexin
type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect …
type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect …
[HTML][HTML] Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error
Refractive errors are common eye disorders of public health importance worldwide. Ocular
axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia …
axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia …
Iron and restless legs syndrome: treatment, genetics and pathophysiology
In this article, we review the original findings from MRI and autopsy studies that
demonstrated brain iron status is insufficient in individuals with restless legs syndrome …
demonstrated brain iron status is insufficient in individuals with restless legs syndrome …
[HTML][HTML] Ethnic differences in iron status
Iron is unique among all minerals in that humans have no regulatable excretory pathway to
eliminate excess iron after it is absorbed. Iron deficiency anemia occurs when absorbed iron …
eliminate excess iron after it is absorbed. Iron deficiency anemia occurs when absorbed iron …
TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals
A Nai, A Pagani, L Silvestri… - Blood, The Journal …, 2011 - ashpublications.org
The iron hormone hepcidin is inhibited by matriptase-2 (MT2), a liver serine protease
encoded by the TMPRSS6 gene. Cleaving the bone morphogenetic protein (BMP) …
encoded by the TMPRSS6 gene. Cleaving the bone morphogenetic protein (BMP) …
PheWAS and beyond: the landscape of associations with medical diagnoses and clinical measures across 38,662 individuals from Geisinger
Most phenome-wide association studies (PheWASs) to date have used a small to moderate
number of SNPs for association with phenotypic data. We performed a large-scale single …
number of SNPs for association with phenotypic data. We performed a large-scale single …
Assessing the genetic predisposition of education on myopia: a mendelian randomization study
Myopia is the largest cause of uncorrected visual impairments globally and its recent
dramatic increase in the population has made it a major public health problem. In …
dramatic increase in the population has made it a major public health problem. In …