Evidence map›Paper›PMID 38272206›Full record

ArticleThe Journal of investigative dermatology2024

Accelerated Aging and Microsatellite Instability in Recessive Dystrophic Epidermolysis Bullosa-Associated Cutaneous Squamous Cell Carcinoma.

Catherine A A Lee, Siyuan Wu, Yuen Ting Chow, Eric Kofman, Valencia Williams, Megan Riddle, Cindy Eide, Christen L Ebens, Markus H Frank, Jakub Tolar and 3 more

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of investigative dermatology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 2 countries.

Catherine A A LeeDivision of Genetics, Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA; Transplant Research Program, Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA.
Siyuan WuDivision of Genetics, Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA; Transplant Research Program, Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA.
Yuen Ting ChowDivision of Genetics, Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA.
Eric KofmanDivision of Genetics, Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA; Broad Institute, Cambridge, Massachusetts, USA.
Valencia WilliamsDivision of Pediatric Blood and Marrow Transplantation & Cellular Therapy, Department of Pediatrics, University of Minnesota Twin Cities, Minneapolis, Minnesota, USA.
Megan RiddleDivision of Pediatric Blood and Marrow Transplantation & Cellular Therapy, Department of Pediatrics, University of Minnesota Twin Cities, Minneapolis, Minnesota, USA.
Cindy EideDivision of Pediatric Blood and Marrow Transplantation & Cellular Therapy, Department of Pediatrics, University of Minnesota Twin Cities, Minneapolis, Minnesota, USA.
Christen L EbensDivision of Pediatric Blood and Marrow Transplantation & Cellular Therapy, Department of Pediatrics, University of Minnesota Twin Cities, Minneapolis, Minnesota, USA.
Markus H FrankHarvard Medical School, Boston, Massachusetts, USA; Transplant Research Program, Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA; Harvard Stem Cell Institute, Harvard University, Cambridge, Massachusetts, USA; Department of Dermatology, Brigham & Women's Hospital, Boston, Massachusetts, USA.
Jakub TolarDivision of Pediatric Blood and Marrow Transplantation & Cellular Therapy, Department of Pediatrics, University of Minnesota Twin Cities, Minneapolis, Minnesota, USA; Medical School, University of Minnesota Twin Cities, Minneapolis, Minnesota, USA; Stem Cell Institute, Medical School, University of Minnesota Twin Cities, Minneapolis, Minnesota, USA.
Kristen P HookDepartment of Dermatology, Medical School, University of Minnesota Twin Cities, Minneapolis, Minnesota, USA.
Saud H AlDubayanDivision of Genetics, Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA; Broad Institute, Cambridge, Massachusetts, USA; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA; Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Natasha Y FrankDivision of Genetics, Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA; Transplant Research Program, Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA; Department of Medicine, VA Boston Healthcare System, West Roxbury, Massachusetts, USA. Electronic address: nyfrank@bwh.harvard.edu.
University of Minnesota · USBrigham and Women's Hospital · USBroad Institute · US

Funding

University of Minnesota Clinical and Translational Science Institute (UMN CTSI)UL1TR002494 · NCATS · UNIVERSITY OF MINNESOTA · PI BLAZAR, BRUCE R, WEISDORF, DANIEL J · 2018 to 2022
$34.9M
Stem Cell Integral Membrane Transporter ABCB5 and Dermal RegenerationP01AG071463 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI GEORGE F MURPHY · 2022 to 2026
$13.6M
Institutional Career Development CoreKL2TR002492 · NCATS · UNIVERSITY OF MINNESOTA · PI INGBAR, DAVID H · 2018 to 2022
$6.3M
ABCB5-positive stem cells for LSCD therapyR01EY025794 · NEI · BOSTON CHILDREN'S HOSPITAL · PI NATASHA Y FRANK, Markus H. Frank · 2016 to 2026
$6.1M
Multipotent ABCB5-positive cell therapeutics for corneal diseaseR24EY028767 · NEI · BRIGHAM AND WOMEN'S HOSPITAL · PI FRANK, MARKUS H., FRANK, NATASHA Y · 2018 to 2022
$5.9M
Skin-targeted Cell Therapy for Recessive Dystrophic Epidermolysis BullosaR01AR063070 · NIAMS · UNIVERSITY OF MINNESOTA · PI Mark J Osborn, Jakub Tolar · 2013 to 2026
$4.5M
Organ Design and Engineering Training Program (ODET Program)T32EB016652 · NIBIB · BRIGHAM AND WOMEN'S HOSPITAL · PI BONVENTRE, JOSEPH VINCENT · 2014 to 2023
$3.5M
Skin-Intrinsic Immunosuppressive Mesenchymal Stem Cells and aGVHDR01HL161087 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI FRANK, MARKUS H., FRANK, NATASHA Y · 2022 to 2025
$1.7M
Targeting therapeutic resistance in glioblastomaI01BX006004 · VA · VA BOSTON HEALTH CARE SYSTEM · PI FRANK, NATASHA Y · 2023 to 2025
–
ABCB5+ Dermal Stem Cells In Regenerative Wound HealingI01RX000989 · VA · VA BOSTON HEALTH CARE SYSTEM · PI FRANK, NATASHA Y · 2015 to 2017
–
BLRD VA I01 BX006004NCATS NIH HHS KL2 TR002492NCATS NIH HHS UL1 TR002494NEI NIH HHS R01 EY025794NEI NIH HHS R24 EY028767NHLBI NIH HHS R01 HL161087NIAMS NIH HHS R01 AR063070NIA NIH HHS P01 AG071463NIBIB NIH HHS T32 EB016652RRD VA I01 RX000989
6 · The paper itself

Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) is a severely debilitating disorder caused by pathogenic variants in COL7A1 and is characterized by extreme skin fragility, chronic inflammation, and fibrosis. A majority of patients with RDEB develop squamous cell carcinoma, a highly aggressive skin cancer with limited treatment options currently available. In this study, we utilized an approach leveraging whole-genome sequencing and RNA sequencing across 3 different tissues in a single patient with RDEB to gain insight into possible mechanisms of RDEB-associated squamous cell carcinoma progression and to identify potential therapeutic options. As a result, we identified PLK-1 as a possible candidate for targeted therapy and discovered microsatellite instability and accelerated aging as factors potentially contributing to the aggressive nature and early onset of RDEB squamous cell carcinoma. By integrating multitissue genomic and transcriptomic analyses in a single patient, we demonstrate the promise of bridging the gap between genomic research and clinical applications for developing tailored therapies for patients with rare genetic disorders such as RDEB.

Indexed as

Carcinoma, Squamous CellCollagen Type VIIEpidermolysis Bullosa DystrophicaMicrosatellite InstabilitySkin NeoplasmsAgingHumansSkinWhole Genome SequencingCOL7A1 protein, humanCollagen Type VIIAccelerated agingMicrosatellite instabilityMultiomic analysesRecessive dystrophic epidermolysis bullosaSquamous cell carcinoma

Identifiers

PMID38272206
PMCPMC11267985
OpenAlexW4391134306

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.