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  1. Article: An interview with Francis S. Collins, M.D., Ph.D. Director, National Human Genome Research Institute.

    Collins, Francis S

    Assay and drug development technologies

    2003  Volume 1, Issue 1 Pt 2, Page(s) 119–125

    MeSH term(s) Biomedical Technology ; Genetic Research ; Genome, Human ; Human Genome Project ; Humans
    Language English
    Publishing date 2003-02
    Publishing country United States
    Document type Interview
    ISSN 1540-658X
    ISSN 1540-658X
    DOI 10.1089/154065803321537836
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    2005 A 2339: Show issues

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  2. Article: Hidden risks associated with conventional short intermittent hemodialysis: A call for action to mitigate cardiovascular risk and morbidity.

    Canaud, Bernard / Kooman, Jeroen P / Selby, Nicholas M / Taal, Maarten / Maierhofer, Andreas / Kopperschmidt, Pascal / Francis, Susan / Collins, Allan / Kotanko, Peter

    World journal of nephrology

    2022  Volume 11, Issue 2, Page(s) 39–57

    Abstract: The development of maintenance hemodialysis (HD) for end stage kidney disease patients is a success story that continues to save many lives. Nevertheless, intermittent renal replacement therapy is also a source of recurrent stress for patients. ... ...

    Abstract The development of maintenance hemodialysis (HD) for end stage kidney disease patients is a success story that continues to save many lives. Nevertheless, intermittent renal replacement therapy is also a source of recurrent stress for patients. Conventional thrice weekly short HD is an imperfect treatment that only partially corrects uremic abnormalities, increases cardiovascular risk, and exacerbates disease burden. Altering cycles of fluid loading associated with cardiac stretching (interdialytic phase) and then fluid unloading (intradialytic phase) likely contribute to cardiac and vascular damage. This unphysiologic treatment profile combined with cyclic disturbances including osmotic and electrolytic shifts may contribute to morbidity in dialysis patients and augment the health burden of treatment. As such, HD patients are exposed to multiple stressors including cardiocirculatory, inflammatory, biologic, hypoxemic, and nutritional. This cascade of events can be termed the dialysis stress storm and sickness syndrome. Mitigating cardiovascular risk and morbidity associated with conventional intermittent HD appears to be a priority for improving patient experience and reducing disease burden. In this in-depth review, we summarize the hidden effects of intermittent HD therapy, and call for action to improve delivered HD and develop treatment schedules that are better tolerated and associated with fewer adverse effects.
    Language English
    Publishing date 2022-03-19
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2220-6124
    ISSN 2220-6124
    DOI 10.5527/wjn.v11.i2.39
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  3. Article ; Online: Rhabdomyolysis: a review of imaging features across modalities.

    Rixey, Allison B / Glazebrook, Katrina N / Powell, Garret M / Baffour, Francis I / Collins, Mark S / Takahashi, Edwin A / Tiegs-Heiden, Christin A

    Skeletal radiology

    2023  Volume 53, Issue 1, Page(s) 19–27

    Abstract: This review illustrates the imaging features of rhabdomyolysis across multiple modalities and in a variety of clinical scenarios. Rhabdomyolysis is the rapid breakdown of striated muscle following severe or prolonged insult resulting in the release of ... ...

    Abstract This review illustrates the imaging features of rhabdomyolysis across multiple modalities and in a variety of clinical scenarios. Rhabdomyolysis is the rapid breakdown of striated muscle following severe or prolonged insult resulting in the release of myocyte constituents into circulation. In turn, patients develop characteristically elevated serum creatine kinase, positive urine myoglobin, and other serum and urine laboratory derangements. While there is a spectrum of clinical symptoms, the classic presentation has been described as muscular pain, weakness, and dark urine. This triad, however, is only seen in about 10% of patients. Thus, when there is a high clinical suspicion, imaging can be valuable in evaluating the extent of muscular involvement, subsequent complications such as myonecrosis and muscular atrophy, and other etiologies or concurrent injuries causing musculoskeletal swelling and pain, especially in the setting of trauma. Sequela of rhabdomyolysis can be limb or life-threatening including compartment syndrome, renal failure, and disseminated intravascular coagulation. MRI, CT, ultrasound, and 18-FDG PET/CT are useful modalities in the evaluation of rhabdomyolysis.
    MeSH term(s) Humans ; Positron Emission Tomography Computed Tomography ; Rhabdomyolysis/diagnostic imaging ; Rhabdomyolysis/etiology ; Muscle, Skeletal/injuries ; Myalgia/metabolism ; Edema/complications
    Language English
    Publishing date 2023-06-15
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 527592-1
    ISSN 1432-2161 ; 0364-2348
    ISSN (online) 1432-2161
    ISSN 0364-2348
    DOI 10.1007/s00256-023-04378-5
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    Zs.A 1304: Show issues Location:
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  4. Article ; Online: Bone dysplasia in Hutchinson-Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populations.

    Cabral, Wayne A / Stephan, Chris / Terajima, Masahiko / Thaivalappil, Abhirami A / Blanchard, Owen / Tavarez, Urraca L / Narisu, Narisu / Yan, Tingfen / Wincovitch, Stephen M / Taga, Yuki / Yamauchi, Mitsuo / Kozloff, Kenneth M / Erdos, Michael R / Collins, Francis S

    Aging cell

    2023  Volume 22, Issue 9, Page(s) e13903

    Abstract: Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder affecting tissues of mesenchymal origin. Most individuals with HGPS harbor a de novo c.1824C > T (p.G608G) mutation in the gene encoding lamin A (LMNA), which activates a cryptic ... ...

    Abstract Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder affecting tissues of mesenchymal origin. Most individuals with HGPS harbor a de novo c.1824C > T (p.G608G) mutation in the gene encoding lamin A (LMNA), which activates a cryptic splice donor site resulting in production of the toxic "progerin" protein. Clinical manifestations include growth deficiency, lipodystrophy, sclerotic dermis, cardiovascular defects, and bone dysplasia. Here we utilized the Lmna
    MeSH term(s) Mice ; Animals ; Progeria/genetics ; Progeria/metabolism ; Aging, Premature ; Mutation ; Lamin Type A/genetics ; Lamin Type A/metabolism ; Cell Differentiation ; Bone Diseases, Developmental
    Chemical Substances Lamin Type A
    Language English
    Publishing date 2023-06-26
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
    ZDB-ID 2113083-8
    ISSN 1474-9726 ; 1474-9718
    ISSN (online) 1474-9726
    ISSN 1474-9718
    DOI 10.1111/acel.13903
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    Zs.A 6581: Show issues Location:
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  5. Article ; Online: Multimodality evaluation of transfascial muscle and other soft tissue herniations of the extremities.

    Pitot, Marika A / Powell, Garret M / Holcomb, Ronald / Tiegs-Heiden, Christin A / Baffour, Francis I / Collins, Mark S / Glazebrook, Katrina N

    Skeletal radiology

    2022  Volume 52, Issue 1, Page(s) 1–8

    Abstract: This review illustrates the multimodality assessment of transfascial muscle and other soft tissue herniations of the extremities. Transfascial herniations of the extremities can develop from congenital or acquired disruptions of the deep fascia, ... ...

    Abstract This review illustrates the multimodality assessment of transfascial muscle and other soft tissue herniations of the extremities. Transfascial herniations of the extremities can develop from congenital or acquired disruptions of the deep fascia, resulting in herniation of the underlying muscle, nerve, or soft tissue tumor into the subcutaneous tissues. While most patients present with a painless subcutaneous nodule that may change in size with muscle activation, some may experience focal or diffuse extremity symptoms such as pain and paresthesias. Although the diagnosis may be clinically suspected, radiologic evaluation is useful for definitive diagnosis and characterization. Ultrasound is the preferred modality for initial workup through a focused and dynamic examination. Magnetic resonance imaging can be utilized for equivocal, complicated, and preoperative cases. Computed tomography is less useful in the evaluation of transfascial herniations in the extremities due to similarities in the attenuation between muscle and fascia, which can decrease the conspicuity of small defects.
    MeSH term(s) Humans ; Hernia ; Extremities/diagnostic imaging ; Fascia/diagnostic imaging ; Magnetic Resonance Imaging/methods ; Muscles
    Language English
    Publishing date 2022-07-15
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 527592-1
    ISSN 1432-2161 ; 0364-2348
    ISSN (online) 1432-2161
    ISSN 0364-2348
    DOI 10.1007/s00256-022-04121-6
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  6. Article ; Online: Dialysis-Induced Cardiovascular and Multiorgan Morbidity.

    Canaud, Bernard / Kooman, Jeroen P / Selby, Nicholas M / Taal, Maarten W / Francis, Susan / Maierhofer, Andreas / Kopperschmidt, Pascal / Collins, Allan / Kotanko, Peter

    Kidney international reports

    2020  Volume 5, Issue 11, Page(s) 1856–1869

    Abstract: Hemodialysis has saved many lives, albeit with significant residual mortality. Although poor outcomes may reflect advanced age and comorbid conditions, ... ...

    Abstract Hemodialysis has saved many lives, albeit with significant residual mortality. Although poor outcomes may reflect advanced age and comorbid conditions, hemodialysis
    Language English
    Publishing date 2020-09-09
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2468-0249
    ISSN (online) 2468-0249
    DOI 10.1016/j.ekir.2020.08.031
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  7. Article ; Online: Human pancreatic islet microRNAs implicated in diabetes and related traits by large-scale genetic analysis.

    Taylor, Henry J / Hung, Yu-Han / Narisu, Narisu / Erdos, Michael R / Kanke, Matthew / Yan, Tingfen / Grenko, Caleb M / Swift, Amy J / Bonnycastle, Lori L / Sethupathy, Praveen / Collins, Francis S / Taylor, D Leland

    Proceedings of the National Academy of Sciences of the United States of America

    2023  Volume 120, Issue 7, Page(s) e2206797120

    Abstract: Genetic studies have identified ≥240 loci associated with the risk of type 2 diabetes (T2D), yet most of these loci lie in non-coding regions, masking the underlying molecular mechanisms. Recent studies investigating mRNA expression in human pancreatic ... ...

    Abstract Genetic studies have identified ≥240 loci associated with the risk of type 2 diabetes (T2D), yet most of these loci lie in non-coding regions, masking the underlying molecular mechanisms. Recent studies investigating mRNA expression in human pancreatic islets have yielded important insights into the molecular drivers of normal islet function and T2D pathophysiology. However, similar studies investigating microRNA (miRNA) expression remain limited. Here, we present data from 63 individuals, the largest sequencing-based analysis of miRNA expression in human islets to date. We characterized the genetic regulation of miRNA expression by decomposing the expression of highly heritable miRNAs into
    MeSH term(s) Humans ; MicroRNAs/metabolism ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/metabolism ; Glycated Hemoglobin ; Islets of Langerhans/metabolism ; Quantitative Trait Loci/genetics
    Chemical Substances MicroRNAs ; Glycated Hemoglobin
    Language English
    Publishing date 2023-02-09
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.2206797120
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    Zs.A 1148: Show issues Location:
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  8. Article: Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 hours.

    Grenko, Caleb M / Bonnycastle, Lori L / Taylor, Henry J / Yan, Tingfen / Swift, Amy J / Robertson, Catherine C / Narisu, Narisu / Erdos, Michael R / Collins, Francis S / Taylor, D Leland

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Disruption of pancreatic islet function and glucose homeostasis can lead to the development of sustained hyperglycemia, beta cell glucotoxicity, and ultimately type 2 diabetes (T2D). In this study, we sought to explore the effects of hyperglycemia on ... ...

    Abstract Disruption of pancreatic islet function and glucose homeostasis can lead to the development of sustained hyperglycemia, beta cell glucotoxicity, and ultimately type 2 diabetes (T2D). In this study, we sought to explore the effects of hyperglycemia on human pancreatic islet (HPI) gene expression by exposing HPIs from two donors to low (2.8mM) and high (15.0mM) glucose concentrations over 24 hours, assaying the transcriptome at seven time points using single-cell RNA sequencing (scRNA-seq). We modeled time as both a discrete and continuous variable to determine momentary and longitudinal changes in transcription associated with islet time in culture or glucose exposure. Across all cell types, we identified 1,528 genes associated with time, 1,185 genes associated with glucose exposure, and 845 genes associated with interaction effects between time and glucose. We clustered differentially expressed genes across cell types and found 347 modules of genes with similar expression patterns across time and glucose conditions, including two beta cell modules enriched in genes associated with T2D. Finally, by integrating genomic features from this study and genetic summary statistics for T2D and related traits, we nominate 363 candidate effector genes that may underlie genetic associations for T2D and related traits.
    Language English
    Publishing date 2023-07-17
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.06.06.543931
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  9. Article ; Online: Response.

    Collins, Francis S / Tabak, Lawrence A / Wolinetz, Carrie D / Lauer, Michael S / Gottesman, Michael M

    Science (New York, N.Y.)

    2019  Volume 363, Issue 6433, Page(s) 1292–1294

    Language English
    Publishing date 2019-03-18
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.aaw8810
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    Zs.MG 77: Show issues

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  10. Article ; Online: The use of generalized linear mixed models to investigate postmortem lipids in textiles.

    Collins, Sharni / Maestrini, Luca / Hui, Francis K C / Stuart, Barbara / Ueland, Maiken

    iScience

    2023  Volume 26, Issue 8, Page(s) 107371

    Abstract: Human remains are oftentimes located with textile materials, making them a ubiquitous source of physical evidence. Human remains are also frequently discovered in outdoor environments, increasing the exposure to scavenging activity and soft-tissue ... ...

    Abstract Human remains are oftentimes located with textile materials, making them a ubiquitous source of physical evidence. Human remains are also frequently discovered in outdoor environments, increasing the exposure to scavenging activity and soft-tissue decomposition. In such cases, postmortem interval (PMI) estimations can be challenging for investigators when attempting to use traditional methods for reconstructive purposes. Lipid analysis is an emerging area of research in forensic taphonomy, with recent works demonstrating success with the detection and monitoring of lipids over time. In this work, generalized linear mixed models (GLMMs) were utilized to perform rigorous statistical analyses on 30 lipid outcomes in combination with accumulated-degree-days (ADD). The results of this study were consistent with recent works, indicating oleic and palmitic acids to be the most suitable lipids in textiles to target for future use as soft-tissue biomarkers of human decomposition. Interspecies differences between humans and pigs were also addressed in this work.
    Language English
    Publishing date 2023-07-13
    Publishing country United States
    Document type Journal Article
    ISSN 2589-0042
    ISSN (online) 2589-0042
    DOI 10.1016/j.isci.2023.107371
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