Hao kexin biography of michael jackson

  • We performed whole exome sequencing in 3,223 African American individuals from the Jackson Heart Study and found a total of 729,666 variant sites with minor.
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  • IGFBP-5 has recently been shown to play an important role in the biology of breast cancer, especially in breast cancer metastasis.
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    . Author manuscript; available in PMC: 2017 Aug 1.

    Published in final edited form as: Circ Cardiovasc Genet. 2016 Jul 15;9(4):368–374. doi: 10.1161/CIRCGENETICS.116.001410

    Abstract

    Background

    The correlation of null alleles with human phenotypes can provide insight into gene function in humans. In individuals of African ancestry, we set out to identify null and damaging missense variants, and test these variants for association with a range of cardiovascular phenotypes.

    Methods and Results

    We performed whole exome sequencing in 3,223 African American individuals from the Jackson Heart Study and found a total of 729,666 variant sites with minor allele frequency (MAF) < 5%, including 17,263 null variants and 49,929 missense variants predicted to be damaging by in silico algorithms. We tested null and damaging missense variants within each gene for association with 36 cardiovascular traits. We found three associations that met our pre-specified level of significance (α=1.1×10−7). Null and damaging missense variants in PCSK9 were associated with 36 mg/dl lower low density lipoprotein cholesterol (LDL-C) (p-value=3×10−21). Three individuals in their 50s with complete PCSK9 deficiency (each compound heterozygote for PCSK9 p.Y142X and p.C679X) were identified, wi

    Abstract

    The insulin-like growth factor axis, which has been shown to protect cells from apoptosis, plays an essential role in normal cell physiology and in cancer development. The family of insulin-like growth factor binding proteins (IGFBPs) has been shown to have a diverse spectrum of functions in cell growth, death, motility, and tissue remodeling. Among the six IGFBP family members, IGFBP-5 has recently been shown to play an important role in the biology of breast cancer, especially in breast cancer metastasis; however, the exact mechanisms of action remain obscure and sometimes paradoxical. An in-depth understanding of IGFBP-5 would shed light on its potential role as a target for breast cancer therapeutics.

    Introduction

    There are six well-characterized insulin-like growth factor binding proteins (IGFBP-1 to IGFBP-6) isolated and characterized from a variety of vertebrate species, including humans; the IGFBPs range in size from 216 to 289 amino acids, with molecular masses between 24 and 44 kDa [1,2]. These IGFBPs share a highly conserved protein domain structure consisting of three main parts (N, L, and C domains). The N and C domains contain insulin-like growth factor (IGF)-binding sites, and the L domain carries proteolytic degradation sites. Some other putative IG

  • hao kexin biography of michael jackson