6 results match your criteria AIMS genetics[Journal]

  • Page 1 of 1

Expression characterization and functional implication of the collagen-modifying Leprecan proteins in mouse gonadal tissue and mature sperm.

AIMS Genet 2018 7;5(1):24-40. Epub 2018 Feb 7.

Department of Physiology & Biophysics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

The Leprecan protein family which includes the prolyl 3-hydroxylase enzymes (P3H1, P3H2, and P3H3), the closely related cartilage-associated protein (CRTAP), and SC65 (Synaptonemal complex 65, aka P3H4, LEPREL4), is involved in the post-translational modification of fibrillar collagens. Mutations in , and cause human genetic diseases. We recently showed that SC65 forms a stable complex in the endoplasmic reticulum with P3H3 and lysyl hydroxylase 1 and that loss of this complex leads to defective collagen lysyl hydroxylation and causes low bone mass and skin fragility. Read More

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http://dx.doi.org/10.3934/genet.2018.1.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221197PMC
February 2018

Unfolding of core nucleosomes by PARP-1 revealed by spFRET microscopy.

AIMS Genet 2017 5;4(1):21-31. Epub 2017 Jan 5.

Biology Faculty, Lomonosov Moscow State University, Moscow, 119992, Russia.

DNA accessibility to various protein complexes is essential for various processes in the cell and is affected by nucleosome structure and dynamics. Protein factor PARP-1 (poly(ADP-ribose)polymerase 1) increases the accessibility of DNA in chromatin to repair proteins and transcriptional machinery, but the mechanism and extent of this chromatin reorganization are unknown. Here we report on the effects of PARP-1 on single nucleosomes revealed by spFRET (single-particle Förster Resonance Energy Transfer) microscopy. Read More

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http://dx.doi.org/10.3934/genet.2017.1.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552189PMC
January 2017
7 Reads

Both -dependent and independent pathways are involved in DNA damage-associated sister chromatid exchange in budding yeast.

AIMS Genet 2017 30;4(2):84-102. Epub 2017 Mar 30.

College of Nanoscale Sciences and Engineering, SUNY Polytechnic Institute, 257 Fuller Road, Albany, New York 12203, United States.

Sister chromatids are preferred substrates for recombinational repair after cells are exposed to DNA damage. While some agents directly cause double-strand breaks (DSBs), others form DNA base adducts which stall or impede the DNA replication fork. We asked which types of DNA damage can stimulate SCE in budding yeast mutants defective in template switch mechanisms and whether PCNA polyubiquitination functions are required for DNA damage-associated SCE after exposure to potent recombinagens. Read More

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http://dx.doi.org/10.3934/genet.2017.2.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460634PMC
March 2017
13 Reads

Genetic and flow anomalies in congenital heart disease.

Authors:
Sandra Rugonyi

AIMS Genet 2016 23;3(3):157-166. Epub 2016 Aug 23.

Department of Biomedical Engineering, Oregon Health & Science University, 3303 SW Bond Ave. M/C CH13B, Portland, OR 97239, USA.

Congenital heart defects are the most common malformations in humans, affecting approximately 1% of newborn babies. While genetic causes of congenital heart disease have been studied, only less than 20% of human cases are clearly linked to genetic anomalies. The cause for the majority of the cases remains unknown. Read More

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http://dx.doi.org/10.3934/genet.2016.3.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417695PMC

Non-autonomous consequences of cell death and other perks of being metazoan.

Authors:
Tin Tin Su

AIMS Genet 2015;2(1):54-69

Department of Molecular, Cellular and Developmental Biology, 347 UCB, University of Colorado, Boulder, CO 80309-0347, USA.

remains a foremost genetic model to study basic cell biological processes in the context of multi-cellular development. In such context, the behavior of one cell can influence another. Non-autonomous signaling among cells occurs throughout metazoan development and disease, and is too vast to be covered by a single review. Read More

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http://dx.doi.org/10.3934/genet.2015.1.54#sthash.dNy9tFhS.dpufDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461274PMC
January 2015
3 Reads

Allelic Interaction between and in the Pathogenesis of Cardiac Atrioventricular Septal Defects.

AIMS Genet 2014 ;1(1):1-19

Department of Physiology and the Institute for Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

Atrioventricular septal defects (AVSD) are highly heritable, clinically significant congenital heart malformations. Genetic and environmental modifiers of risk are thought to work in unknown combinations to cause AVSD. Approximately 5-10% of simplex AVSD cases carry a missense mutation in . Read More

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http://www.aimspress.com/article/10.3934/genet.2014.1.1
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http://dx.doi.org/10.3934/genet.2014.1.1#sthash.jksuJTeC.dpufDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200510PMC
January 2014
4 Reads
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