A5057668804- Sperm and Testicular Function
- Reproductive Biology and Fertility
- Reproductive Health and Technologies
- Epigenetics and DNA Methylation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Assisted Reproductive Technology and Twin Pregnancy
- Prenatal Screening and Diagnostics
- Demographic Trends and Gender Preferences
- Ovarian function and disorders
- Birth, Development, and Health
- Renal and related cancers
- Animal Genetics and Reproduction
- CRISPR and Genetic Engineering
- Hormonal and reproductive studies
- Pluripotent Stem Cells Research
- Chromosomal and Genetic Variations
- Genetic Syndromes and Imprinting
- Cancer-related gene regulation
- Reproductive System and Pregnancy
- Marriage and Family Dynamics
- Microfluidic and Bio-sensing Technologies
- Urological Disorders and Treatments
- Microtubule and mitosis dynamics
- Family Support in Illness
University of Utah
2016-2025
Texas Fertility Center
2022-2024
Genomics (United Kingdom)
2024
Gemini Computers (United States)
2021
Salt Lake Regional Medical Center
2021
Seoul Medical Center
2019
Genetics and IVF Institute
2009-2017
Johnson & Johnson (United States)
2016
ARUP Laboratories (United States)
2015
Philadelphia University
2014
Does sperm DNA damage affect early embryonic development? Increased adversely affects embryo quality starting at Day 2 of development and continuing after transfer, resulting in reduced implantation rates pregnancy outcomes. Abnormalities the form single double strand breaks can be assessed by an alkaline Comet assay. Some prior studies have shown a strong paternal effect on IVF outcome, including fertilization, cleavage rates, numbers embryos developing into blastocysts, increased...
Recent evidence demonstrates a role for paternal aging on offspring disease susceptibility. It is well established that various neuropsychiatric disorders (schizophrenia, autism, etc.), trinucleotide expansion associated diseases (myotonic dystrophy, Huntington's, etc.) and even some forms of cancer have increased incidence in the older fathers. Despite strong epidemiological these alterations are more common sired by fathers, most cases mechanisms drive processes unclear. However, it...
Aging men display reduced reproductive health; however, testis aging is poorly understood at the molecular and genomic levels. Here, we utilized single-cell RNA-seq to profile over 44,000 cells from both young older examined age-related changes in germline development testicular somatic cells. Age-related spermatogonial stem appeared modest, whereas dysregulation of spermatogenesis ranged moderate severe. Altered pathways included signaling inflammation multiple cell types, metabolic Sertoli...
Abstract De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de an important severe male infertility and explain portion of the genetic causes this understudied disorder. To test hypothesis, we utilize trio-based exome sequencing cohort 185 infertile males their unaffected parents. Following systematic analysis, 29 145 rare (MAF < 0.1%) protein-altering classified as possibly causative phenotype. observed significant...
Numerical Simulations for Lithium-Ion Battery Pack Cooled by Different Minichannel Cold Plate Arrangements,
In spite of tremendous efforts by a number groups, the search for single nucleotide polymorphisms (SNPs) strongly associated with male factor infertility means gene re-sequencing studies has yielded few likely candidates. A recent pilot, genome-wide SNP association study (GWAS) identified list SNPs oligozoospermia and azoospermia. This is an expanded follow-up GWAS as well other from previously published studies.On basis pilot associations infertility, 172 were genotyped in men idiopathic...
Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in human population. We hypothesized men spermatogenic impairment, a disease unknown genetic architecture common cause male infertility, are enriched for rare deleterious compared to normal spermatogenesis. After assaying genomewide SNPs CNVs 323 Caucasian idiopathic impairment more than 1,100 controls, we estimate each autosomal deletion detected...
Male infertility affects a large proportion of the population. In spite magnitude problem and considerable research effort that has been made to understand its causes, male cases remain idiopathic in nature. This pilot genome-wide association study employed genotyping microarray technology interrogate over 370,000 single-nucleotide polymorphisms (SNPs) men with azoospermia severe oligozoospermia, along normozoospermic controls, an discover novel genetic variants significantly associated...
Summary Numerous health consequences of tobacco smoke exposure have been characterized, and the effects smoking on traditional measures male fertility are well described. However, a growing body data indicates that pre‐conception paternal also confers increased risk for number morbidities offspring. The mechanism this has not elucidated, but it is likely mediated, at least in part, through epigenetic modifications transmitted spermatozoa. In study, we investigated impact cigarette sperm DNA...
Is there an association between sperm DNA damage, measured by three different assays, nuclear protein content and clinical outcomes in assisted reproduction treatment (ART)?Sperm damage terminal deoxynucleotidyltransferase-mediated dUTP nick-end labelling (TUNEL) the Comet assay were significantly associated with ART our single institution study.Abnormal protamine expression is known to be male infertility. A number of studies have shown a significant relationship outcomes. To date, are no...
ObjectiveTo further understand the association between semen quality and cancer risk by means of well defined parameters.DesignRetrospective cohort study.SettingNot applicable.Patient(s)A total 20,433 men who underwent analysis (SA) a sample fertile control subjects matched age birth year.Intervention(s)None.Main Outcome Measure(s)Risk all cancers as site-specific results for prostate cancer, testicular melanoma.Result(s)Compared with men, SA had an increased (hazard rate [HR] 3.3). When...
Male infertility affects ∼7% of men, but its causes remain poorly understood. The most severe form is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis. So far, only a few validated disease-associated genes have been reported. To address this gap, we performed whole-exome sequencing 58 men with unexplained meiotic and identified the same homozygous frameshift variant c.676dup (p.Trp226LeufsTer4) M1AP, encoding meiosis 1 associated protein, three unrelated...
P-element-induced wimpy testis (PIWI)-interacting RNAs (piRNAs) are short (21 to 35 nucleotides in length) and noncoding found almost exclusively germ cells, where they regulate aberrant expression of transposable elements postmeiotic gene expression. Critical the processing piRNAs is protein poly(A)-specific RNase-like domain containing 1 (PNLDC1), which trims their 3' ends and, when disrupted mice, causes azoospermia male infertility.We performed exome sequencing on DNA samples from 924...