Jennifer Schleit
University of Washington
GeneSaccharomyces cerevisiaeMitochondrionGeneticsBiology
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Publications 19
#1Jennifer SchleitH-Index: 12
#2Lorraine V. Naylor (Seattle Cancer Care Alliance)H-Index: 1
Last. Fuki M. Hisama (UW: University of Washington)H-Index: 26
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2 CitationsSource
#1Forough Sargolzaeiaval (UW: University of Washington)H-Index: 1
#2Jiaming Zhang (UW: University of Washington)
Last. Junko Oshima (Chiba University)H-Index: 45
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BACKGROUND:Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 (CTC1) gene. The CTC1 forms the telomeric capping complex, CST, which functions in telomere homeostasis and replication. METHODS:A Brazilian pedigree and an Australian pedigree were referred to the International Registry of Werner Syndrome (Seattle, WA, USA), with clinical features of accelerated aging a...
#1Sumit Punj (OHSU: Oregon Health & Science University)H-Index: 6
#2Yassmine Akkari (OHSU: Oregon Health & Science University)H-Index: 17
Last. Carolyn (Sue) Richards (OHSU: Oregon Health & Science University)H-Index: 33
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Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the...
11 CitationsSource
#1Nicole K. Andeen (UW: University of Washington)H-Index: 5
#2Jennifer Schleit (UW: University of Washington)H-Index: 12
Last. Kelly D. Smith (UW: University of Washington)H-Index: 35
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Variants in the LMX1B gene cause nail-patella syndrome, a rare autosomal dominant disorder characterized by dysplasia of nails, patella and elbow abnormalities, iliac "horns," and glaucoma. We describe an adult man with nephrotic syndrome and no systemic manifestations of nail-patella syndrome at the time of his initial kidney biopsy. His kidney biopsy was initially interpreted as a form of segmental sclerosis with unusual fibrillar deposits. At the time of consideration for kidney transplantati...
1 CitationsSource
#1Mark A. McCormick (Buck Institute for Research on Aging)H-Index: 9
#2Joe R. Delaney (UW: University of Washington)H-Index: 11
Last. Brian K. Kennedy (UW: University of Washington)H-Index: 66
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Many genes that affect replicative lifespan (RLS) in the budding yeast Saccharomyces cerevisiae also affect aging in other organisms such as C. elegans and M. musculus. We performed a systematic analysis of yeast RLS in a set of 4,698 viable single-gene deletion strains. Multiple functional gene clusters were identified, and full genome-to-genome comparison demonstrated a significant conservation in longevity pathways between yeast and C. elegans. Among the mechanisms of aging identified, deleti...
91 CitationsSource
#1Marc VermulstH-Index: 9
#2Ashley S. DenneyH-Index: 2
Last. Dorothy A. ErieH-Index: 39
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Nature Communications 6, Article number: 8065 (2015); Published 25 August 2015; Updated 14 October 2015 The original version of this Article contained an error in the spelling of the authors J. Will Thompson and M. Arthur Moseley, which were incorrectly given as William J. Thompson and Arthur M. Mosely.
55 CitationsSource
#1Marc VermulstH-Index: 9
#2Ashley S. DenneyH-Index: 2
Last. Dorothy A. ErieH-Index: 39
view all 22 authors...
#1Marc Vermulst (UPenn: University of Pennsylvania)H-Index: 9
#2Ashley S. Denney (University of Colorado Denver)H-Index: 2
Last. Dorothy A. Erie (UNC: University of North Carolina at Chapel Hill)H-Index: 39
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Transcription, like DNA replication, is an error-prone process. Vermulst et al. show that transcription errors increase with age in yeast, and find that prematurely increasing the error rate overwhelms the proteotoxic stress response, allowing aggregation-prone proteins to escape protein quality control.
33 CitationsSource
#1Jennifer Schleit (UW: University of Washington)H-Index: 12
#2Samuel S. Bailey (UW: University of Washington)H-Index: 2
Last. Peter H. Byers (UW: University of Washington)H-Index: 70
view all 7 authors...
Approximately 10%–20% of germline pathogenic variants alter mRNA splicing, with phenotypes often dependent on the stability of the mRNA produced by the mutant allele. To better understand the relationships between genotype, mRNA splicing, and phenotype, we examined clinical and molecular data from 243 probands with osteogenesis imperfecta (OI) representing 145 unique splicing variants within the type I procollagen gene, COL1A1. All individuals with IVSX-1G>A mutations had OI type I because the s...
7 CitationsSource
#1Laura M. Amendola (UW: University of Washington)H-Index: 16
#2Michael O. Dorschner (UW: University of Washington)H-Index: 33
Last. Gail P. Jarvik (UW: University of Washington)H-Index: 72
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Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the pathogenicity of specific variants and to estimate the frequency of such incidental findings in patients of European and African ancestry, we classified potentially actionable pathogenic single-nucleotide variants (SNVs) in all 4300 European- and 2203 African-ancestry participants sequenced by the NHLBI Ex...
175 CitationsSource