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  1. Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings

    This article has 26 authors:
    1. Shek Man Chim
    2. Kristen Howell
    3. John Dronzek
    4. Weizhen Wu
    5. Cristopher Van Hout
    6. Manuel Allen Revez Ferreira
    7. Bin Ye
    8. Alexander Li
    9. Susannah Brydges
    10. Vinayagam Arunachalam
    11. Anthony Marcketta
    12. Adam E Locke
    13. Jonas Bovijn
    14. Niek Verweij
    15. Tanima De
    16. Luca Lotta
    17. Lyndon Mitnaul
    18. Michelle G. LeBlanc
    19. Regeneron Genetics Center
    20. DiscovEHR collaboration
    21. David Carey
    22. Olle Melander
    23. Alan Shuldiner
    24. Katia Karalis
    25. Aris N. Economides
    26. Harikiran Nistala
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This fundamental study substantially advances our understanding of the role of zinc in metabolism, specifically a newly established clinical link between mutations in the zinc transporter SLC39A5, elevated serum zinc levels, and a reduction in the risk of Type 2 Diabetes. The provided evidence is solid with state-of-the-art genetic analysis of large human cohorts followed by a comprehensive analysis of a mouse SLC39A5 knockout mutant, establishing that SLC39A5 plays a role in hepatic lipid handling through AMPK signaling, although the limited analysis of a pancreatic phenotype that has previously been described constitutes a weakness. This study will be of relevance to researchers interested in metabolism, fatty liver disease, and the biology of trace elements.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 2 listsLatest version Latest activity
  2. Statistical examination of shared loci in neuropsychiatric diseases using genome-wide association study summary statistics

    This article has 8 authors:
    1. Thomas P Spargo
    2. Lachlan Gilchrist
    3. Guy P Hunt
    4. Richard JB Dobson
    5. Petroula Proitsi
    6. Ammar Al-Chalabi
    7. Oliver Pain
    8. Alfredo Iacoangeli
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This paper presents a valuable pipeline based on state-of-the-art analytical software that was used to study genetic pleiotropy between neuropsychiatric disorders. The presented evidence supporting the claims is solid, although the paper is lacking an appropriate comparison to previously published methods as well as a more detailed exploration of some of the findings. The created pipeline is made publicly available and can thus be used by researchers from diverse fields to study different combinations of diseases and traits.

    Reviewed by eLife

    This article has 3 evaluationsAppears in 2 listsLatest version Latest activity
  3. Identification of Novel Syncytiotrophoblast Membrane Extracellular Vesicles Derived Protein Biomarkers in Preeclampsia: A Cross-Sectional Study

    This article has 10 authors:
    1. Toluwalase Awoyemi
    2. Shuhan Jiang
    3. Bríet Bjarkadóttir
    4. Maryam Rahbar
    5. Prasanna Logenthiran
    6. Gavin Collett
    7. Wei Zhang
    8. Adam Cribbs
    9. Ana Sofia Cerdeira
    10. Manu Vatish
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study presents valuable findings that could be utilized for the identification of women at risk for preeclampsia prior to the onset of the disease. The novel aspect of this study lies in the utilization of exosomes with two different sizes. However, the data is incomplete: the patient population has not been well-defined, and the study only measured the proteins at a single time point.

    Reviewed by eLife

    This article has 6 evaluationsAppears in 2 listsLatest version Latest activity
  4. Polymorphisms in Intron 1 of HLA-DRA Differentially Associate with Type 1 Diabetes and Celiac Disease and Implicate Involvement of Complement System Genes C4A and C4B

    This article has 15 authors:
    1. Özkan Aydemir
    2. Jeffrey A. Bailey
    3. Daniel Agardh
    4. Åke Lernmark
    5. Janelle A. Noble
    6. Agnes Andersson Svärd
    7. Elizabeth P. Blankenhorn
    8. Hemang Parikh
    9. Anette-G. Ziegler
    10. Jorma Toppari
    11. Beena Akolkar
    12. William A. Hagopian
    13. Marian J. Rewers
    14. John P. Mordes
    15. TEDDY Study Group
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study presents valuable findings on genetic risk factors for type 1 diabetes and celiac disease using a large cohort from the Environmental Determinants of Diabetes in the Young (TEDDY) study. The evidence supporting the claims of the authors is solid, although the inclusion of the genetic effect of this locus on individuals with different genetic backgrounds would have strengthened the study. The work will be of interest to population geneticists working on diabetes and celiac disease.

    Reviewed by eLife

    This article has 3 evaluationsAppears in 2 listsLatest version Latest activity
  5. Deciphering the relationship between type 2 diabetes and fracture risk: the genetic and observational evidences

    This article has 13 authors:
    1. Pianpian Zhao
    2. Zhifeng Sheng
    3. Lin Xu
    4. Peng Li
    5. Wenjin Xiao
    6. Chengda Yuan
    7. Zhanwei Xu
    8. Mengyuan Yang
    9. Yu Qian
    10. Jiadong Zhong
    11. Jiaxuan Gu
    12. David Karasik
    13. Houfeng Zheng
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      The increased risk of fracture without decreased bone density in type 2 diabetes (T2D), the so-called "diabetic bone paradox", is mainly attributed to the limitation of assessing risk of fracture based on bone density alone in the current practice. Now we have learnt that poor bone quality and increased risk of falling due to concomitant co-morbidities partially explains it. This study this presents useful findings that clinical risk factors (though not genetic factors) related to T2D are associated with risk of fracture in T2D patients. The new approach of using Mendelian randomization to explain the relationship of two complex conditions is solid, and the discovery of 10 loci shared between T2D and fracture risk is intriguing. However, including clinically more relevant risk factors for fracture risk in T2D patients in their observational analysis would have strengthened the study.

    Reviewed by eLife

    This article has 3 evaluationsAppears in 2 listsLatest version Latest activity
  6. PYCR1 Levels Track with Premature and Chronological Skin Aging

    This article has 20 authors:
    1. Kortessa Sotiropoulou
    2. Saniye Yumlu
    3. Tomoko Hirano
    4. Michael Maier
    5. Abigail Loh
    6. Peh Fern Ong
    7. Onn Siong Yim
    8. Chunping Liu
    9. Emmanuel Vial
    10. Umut Altunoğlu
    11. Sheela Nampoothiri
    12. Deepthi de Silva
    13. Björn Fischer-Zirnsak
    14. Hülya Kayserili
    15. Poh San Lai
    16. Oliver Dreesen
    17. Kenji Kabashima
    18. Uwe Kornak
    19. Nathalie Escande-Beillard
    20. Bruno Reversade
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This manuscript uses genetic mouse modeling to delve deeper into a rare human disease of aging. The targeted approaches employed lend greater pathophysiologic insight and makes this paper valuable to the field art large. Additionally, the approaches used are rigorous and solid in supporting their conclusions. Some minor weaknesses were noted along with suggestions to add greater clarity.

    Reviewed by preLights, eLife

    This article has 4 evaluationsAppears in 4 listsLatest version Latest activity
  7. Electronic data review, client reminders, and expanded clinic hours for improving cervical cancer screening rates after COVID-19 pandemic shutdowns: a multi-component quality improvement program

    This article has 5 authors:
    1. Sue Ghosh
    2. Jackie Fantes
    3. Karin Leschly
    4. Julio Mazul
    5. Rebecca Perkins
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study addresses a pertinent and important topic related to prolonged delays in cervical cancer screening and the need to maintain routine and timely screening services in a large health maintenance network in Boston. The findings provide a solid, yet incomplete roadmap for implementing simple strategies to help patients return to essential health services.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 2 listsLatest version Latest activity
  8. Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

    This article has 13 authors:
    1. Xueyang Pan
    2. Albert N. Alvarez
    3. Mengqi Ma
    4. Shenzhao Lu
    5. Michael W. Crawford
    6. Lauren C. Briere
    7. Oguz Kanca
    8. Shinya Yamamoto
    9. David A. Sweetser
    10. Jenny L. Wilson
    11. Ruth J. Napier
    12. Jonathan N. Pruneda
    13. Hugo J. Bellen
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      The authors establish a Drosophila model to assess the severity of disease-linked alleles of Uba5 to study DEE44, a neurodevelopmental disease caused by UBA5 gene mutations. Using in vivo and in vitro experiments, this valuable study demonstrates that alleles fall into mild, intermediate, and severe classes, with convincing evidence to support their conclusion, which includes well-conserved relationships between UBA5 structure and function across humans and flies. This study establishes a model for further characterization of Uba5-related phenotypes in a powerful model system and will be useful in the future to study the functional effects of these mutations on nervous system development.

    Reviewed by eLife

    This article has 5 evaluationsAppears in 2 listsLatest version Latest activity
  9. Deep Learning Using High-Resolution Images of Forearm Predicts Fracture

    This article has 10 authors:
    1. Roland Chapurlat
    2. Serge Ferrari
    3. Xiaoxu Li
    4. Yu Peng
    5. Min Xu
    6. Min Bui
    7. Elisabeth Sornay-Rendu
    8. Eric lespessailles
    9. Emmanuel Biver
    10. Ego Seeman
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study presents a valuable deep learning-based model for predicting fracture within the next five years from just a standard distal radius and ulna scan obtained using high-resolution computed tomography images. The evidence supporting the conclusion that the model-predicted fracture prediction score can be used clinically to identify women at risk of fracture more effectively than with the current standard clinical approach is convincing. This work will be of interest to biomechanists and biomedical engineers working on osteoporosis.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 2 listsLatest version Latest activity
  10. Risk factors affecting polygenic score performance across diverse cohorts

    This article has 21 authors:
    1. Daniel Hui
    2. Scott Dudek
    3. Krzysztof Kiryluk
    4. Theresa L. Walunas
    5. Iftikhar J. Kullo
    6. Wei-Qi Wei
    7. Hemant K. Tiwari
    8. Josh F. Peterson
    9. Wendy K. Chung
    10. Brittney Davis
    11. Atlas Khan
    12. Leah Kottyan
    13. Nita A. Limdi
    14. Qiping Feng
    15. Megan J. Puckelwartz
    16. Chunhua Weng
    17. Johanna L. Smith
    18. Elizabeth W. Karlson
    19. Regeneron Genetics Center
    20. Gail P. Jarvik
    21. Marylyn D. Ritchie
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study presents a valuable analysis of the effects of covariates, such as age, sex, socio-economic status, or biomarker levels, on the predictive accuracy of polygenic scores for body mass index; it also presents approaches for improving prediction accuracy by accounting for such covariates. While the analyses are solid, the study falls short of providing a cogent interpretation of key findings, which could be of great interest and utility. The work will be of interest to people using and developing methods for phenotypic prediction based on polygenic scores.

    Reviewed by eLife

    This article has 5 evaluationsAppears in 2 listsLatest version Latest activity
  11. A cross-sectional survey examining the association of clinician characteristics with perceived changes in cervical cancer screening and colposcopy practice during the COVID-19 pandemic

    This article has 10 authors:
    1. Lindsay Fuzzell
    2. Naomi C. Brownstein
    3. Holly B. Fontenot
    4. Paige Lake
    5. Alexandra Michel
    6. Ashley Whitmer
    7. Sarah L. Rossi
    8. McKenzie McIntyre
    9. Susan T. Vadaparampil
    10. Rebecca Perkins
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This important work provides evidence regarding the impact of the COVID-19 pandemic on cervical cancer screening and precancer treatments in the USA. As there are few screening registries, the study provides solid evidence using a survey of health providers' impressions to assess whether cervical cancer screening services declined during the pandemic. The work will be of interest to public health professionals working in cancer prevention.

    Reviewed by eLife

    This article has 5 evaluationsAppears in 2 listsLatest version Latest activity
  12. Multi-ancestry meta-analysis of host genetic susceptibility to tuberculosis identifies shared genetic architecture

    This article has 11 authors:
    1. Haiko Schurz
    2. Vivek Naranbhai
    3. Tom A. Yates
    4. James J. Gilchrist
    5. Tom Parks
    6. Peter J. Dodd
    7. Marlo Möller
    8. Eileen G Hoal
    9. Andrew P. Morris
    10. Adrian V.S. Hill
    11. the International Tuberculosis Host Genetics Consortium
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This important manuscript, which describes the largest genetic association study to date, uses broadly compelling methods to address the genetic susceptibility to tuberculosis infection. A strength of the paper is that this multi-ancestry meta-analysis of genetic association studies than is more powerful than what has been done before. A weakness is that its main result is difficult to interpret due to the complexity of the genetic association signal.

    Reviewed by eLife

    This article has 5 evaluationsAppears in 2 listsLatest version Latest activity
  13. Predicting Ventricular Tachycardia Circuits in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy using Genotype-specific Heart Digital Twins

    This article has 12 authors:
    1. Yingnan Zhang
    2. Kelly Zhang
    3. Adityo Prakosa
    4. Cynthia James
    5. Stefan L Zimmerman
    6. Richard Carrick
    7. Eric Sung
    8. Alessio Gasperetti
    9. Crystal Tichnell
    10. Brittney Murray
    11. Hugh Calkins
    12. Natalia Trayanova
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      The authors have used a 'digital twin' strategy to recapitulate human pathophysiology of arrhythmia. These important findings have theoretical and practical implications beyond the single subfield of cardiovascular science for personalised medicine. The experimental design relies on state-of-the-art methodologies, with compelling results. The work will be of broad interest to colleagues in the general area of computational biology.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 2 listsLatest version Latest activity
  14. CD8+ tissue-resident memory T cells triggered the erosion of oral lichen planus by the cytokine network

    This article has 10 authors:
    1. Maofeng Qing
    2. Qianhui Shang
    3. Dan Yang
    4. Jiakuan Peng
    5. Jiaxin Deng
    6. Lu Jiang
    7. Jing Li
    8. Yu Zhou
    9. Hao Xu
    10. Qianming Chen
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      Overall, this is an important study that characterizes human oral lichen planus via single-cell analysis. Although the work is descriptive, it can represent an important resource for future studies and highlights potentially relevant biology. However, the claims are a bit overstated and some of the analyses that lead to interpretations remain incomplete.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 2 listsLatest version Latest activity
  15. Examining the impact of the COVID-19 pandemic on cervical cancer screening practices among clinicians practicing in Federally Qualified Health Centers: A mixed methods study

    This article has 11 authors:
    1. Lindsay Fuzzell
    2. Paige Lake
    3. Naomi C. Brownstein
    4. Holly B. Fontenot
    5. Ashley Whitmer
    6. Alexandra Michel
    7. McKenzie McIntyre
    8. Sarah L. Rossi
    9. Sidika Kajtezovich
    10. Susan T. Vadaparampil
    11. Rebecca Perkins
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This US study presents findings from an online survey and in-person interviews of healthcare providers in areas associated with cervical screening provision during the post-acute phase of the pandemic. The findings are valuable as they provide insights into a range of areas, from healthcare characteristics to screening barriers and HPV self-sampling. The evidence supporting the claims of the authors is solid, although the inclusion of a nationally-representative sample of healthcare providers and a greater gender/ethnicity/racial mix of interviewees would have strengthened the study. The work will be of interest to public health scientists and a cancer prevention and control audience.

    Reviewed by eLife

    This article has 5 evaluationsAppears in 2 listsLatest version Latest activity
  16. Direct Economic Burden of Mental Health Disorders Associated with Polycystic Ovary Syndrome: Systematic Review and Meta-analysis

    This article has 8 authors:
    1. Surabhi Yadav
    2. Olivia Delau
    3. Adam Bonner
    4. Daniela Markovic
    5. William Patterson
    6. Sasha Ottey
    7. Richard P. Buyalos
    8. Ricardo Azziz
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This important paper describes a valuable systematic review and meta-analysis of mental health problems in polycystic ovary syndrome (PCOS) that drive the excess economic burden associated with this common endocrine disorder. Interestingly, the cost of the diagnostic evaluation is only a relatively minor part of the total costs, but mental health disorders were identified as a significant component of the economic burden. These solid findings could not have been anticipated intuitively and are of considerable value for public health prioritization of PCOS.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 2 listsLatest version Latest activity
  17. Pharmacometric assessment of primaquine induced haemolysis in glucose-6-phosphate dehydrogenase deficiency

    This article has 13 authors:
    1. Sasithon Pukrittayakamee
    2. Podjanee Jittamala
    3. James Andrew Watson
    4. Borimas Hanboonkunupakarn
    5. Pawanrat Leungsinsiri
    6. Kittiyod Poovorawan
    7. Kesinee Chotivanich
    8. Germana Bancone
    9. Cindy S Chu
    10. Mallika Imwong
    11. Nicholas PJ Day
    12. Walter RJ Taylor
    13. Nicholas J White
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This manuscript addresses an important question, that in countries endemic for P. vivax the need to administer a primaquine (PQ) course adequate to prevent relapse in G6PD deficient persons poses a real dilemma. On one hand PQ will cause haemolysis; on the other hand, without PQ the chance of relapse is very high. As a result, out of fear of severe haemolysis, PQ has been under-used. This manuscript is convincing that regimen (1) can be used successfully to deliver within 3 weeks, under hospital conditions, the dose of PQ required to prevent P. vivax relapse.

    Reviewed by eLife

    This article has 2 evaluationsAppears in 2 listsLatest version Latest activity
  18. Discovery and characterization of cross-reactive intrahepatic antibodies in severe alcoholic hepatitis

    This article has 24 authors:
    1. Ali Reza Ahmadi
    2. Guang Song
    3. Tianshun Gao
    4. Jing Ma
    5. Xiaomei Han
    6. Mingwen Hu
    7. Andrew M Cameron
    8. Russell Wesson
    9. Benjamin Philosophe
    10. Shane Ottmann
    11. Elizabeth A King
    12. Ahmet Gurakar
    13. Le Qi
    14. Brandon Peiffer
    15. James Burdick
    16. Robert A Anders
    17. Zhanxiang Zhou
    18. Dechun Feng
    19. Hongkun Lu
    20. Chien-Sheng Chen
    21. Jiang Qian
    22. Bin Gao
    23. Heng Zhu
    24. Zhaoli Sun
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This important study tested the hypothesis that liver-derived but not serum-derived antibodies that are cross-reactive to E.coli and to host proteins can play a role in the hepatic damage found in severe alcoholic hepatitis (SAH). Using a solid methodology that includes state-of-the-art microscopy, proteome arrays, and gene ontology assays, it provides strong evidence that liver-derived IgG and IgA with cytotoxic properties and reactivity to both gut-derived E.coli and autoantigens accumulated in hepatocytes of SAH patients but not of healthy controls. The study would benefit from a broader analysis of gut microbiota proteome and further characterization of B cells infiltrating the liver tissue including their numbers/field and their origin (infiltrating versus resident cells). The work opens new avenues of understanding for the pathogenesis of severe alcoholic hepatitis and is of great interest to researchers and clinicians in the field.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 2 listsLatest version Latest activity
  19. Association between APOL1 risk variants and the occurrence of sepsis in Black patients hospitalized with infections: a retrospective cohort study

    This article has 12 authors:
    1. Lan Jiang
    2. Ge Liu
    3. Annette Oeser
    4. Andrea Ihegword
    5. Alyson L. Dickson
    6. Laura L. Daniel
    7. Adriana M. Hung
    8. Nancy J. Cox
    9. Cecilia P. Chung
    10. Wei-Qi Wei
    11. C. Michael Stein
    12. QiPing Feng
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      In this valuable study, patients homozygous for both minor frequency alleles of the APOL1 gene are shown to be at significant risk for progression into sepsis after infection. The study has enrolled a significant number of subjects and provides solid results. The study addresses to infectious diseases and critical care experts and one major weakness is the lack of inclusion of non-Black patients.

    Reviewed by eLife

    This article has 5 evaluationsAppears in 2 listsLatest version Latest activity
  20. Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy

    This article has 8 authors:
    1. Yohei Nitta
    2. Jiro Osaka
    3. Ryuto Maki
    4. Satoko Hakeda-Suzuki
    5. Emiko Suzuki
    6. Satoshi Ueki
    7. Takashi Suzuki
    8. Atsushi Sugie
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment:

      Autosomal dominant optic atrophy (DOA) in humans is associated with mutations in OPA1, a mitochondrial dynamin like GTPase. This study uses Drosophila as a model to recapitulate some aspects of the disease phenotype, and it supports and extends previously published data to provide valuable findings that have theoretical or practical implications in the field of rare retinal diseases. The approaches used are solid and allow to investigate differences between mutations that are supposed to be loss-of-function or acting as dominant negative with consequences in the optic system or in a version of DOA, in which other tissues are also affected. However, the main claims are only partially supported and additional information in the materials and methods and several figure legends is needed to complete the study.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 2 listsLatest version Latest activity