Genetic and Genomic Medicine

  1. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

    1. Elisa Benetti
    2. Rossella Tita
    3. Ottavia Spiga
    4. Andrea Ciolfi
    5. Giovanni Birolo
    6. Alessandro Bruselles
    7. Gabriella Doddato
    8. Annarita Giliberti
    9. Caterina Marconi
    10. Francesco Musacchia
    11. Tommaso Pippucci
    12. Annalaura Torella
    13. Alfonso Trezza
    14. Floriana Valentino
    15. Margherita Baldassarri
    16. Alfredo Brusco
    17. Rosanna Asselta
    18. Mirella Bruttini
    19. Simone Furini
    20. Marco Seri
    21. Vincenzo Nigro
    22. Giuseppe Matullo
    23. Marco Tartaglia
    24. Francesca Mari
    25. GEN-COVID Multicenter Study
    26. Elisa Frullanti
    27. Chiara Fallerini
    28. Sergio Daga
    29. Susanna Croci
    30. Sara Amitrano
    31. Francesca Fava
    32. Francesca Montagnani
    33. Laura Di Sarno
    34. Andrea Tommasi
    35. Maria Palmieri
    36. Arianna Emiliozzi
    37. Massimiliano Fabbiani
    38. Barbara Rossetti
    39. Giacomo Zanelli
    40. Laura Bergantini
    41. Miriana D’Alessandro
    42. Paolo Cameli
    43. David Bennet
    44. Federico Anedda
    45. Simona Marcantonio
    46. Sabino Scolletta
    47. Federico Franchi
    48. Maria Antonietta Mazzei
    49. Edoardo Conticini
    50. Luca Cantarini
    51. Bruno Frediani
    52. Danilo Tacconi
    53. Marco Feri
    54. Raffaele Scala
    55. Genni Spargi
    56. Marta Corridi
    57. Cesira Nencioni
    58. Gian Piero Caldarelli
    59. Maurizio Spagnesi
    60. Paolo Piacentini
    61. Maria Bandini
    62. Elena Desanctis
    63. Anna Canaccini
    64. Chiara Spertilli
    65. Alice Donati
    66. Luca Guidelli
    67. Leonardo Croci
    68. Agnese Verzuri
    69. Valentina Anemoli
    70. Agostino Ognibene
    71. Massimo Vaghi
    72. Antonella D’Arminio Monforte
    73. Esther Merlini
    74. Mario U. Mondelli
    75. Stefania Mantovani
    76. Serena Ludovisi
    77. Massimo Girardis
    78. Sophie Venturelli
    79. Marco Sita
    80. Andrea Cossarizza
    81. Andrea Antinori
    82. Alessandra Vergori
    83. Stefano Rusconi
    84. Matteo Siano
    85. Arianna Gabrieli
    86. Agostino Riva
    87. Daniela Francisci
    88. Elisabetta Schiaroli
    89. Pier Giorgio Scotton
    90. Francesca Andretta
    91. Sandro Panese
    92. Renzo Scaggiante
    93. Saverio Giuseppe Parisi
    94. Francesco Castelli
    95. Maria Eugenia Quiros-Roldan
    96. Paola Magro
    97. Cristina Minardi
    98. Deborah Castelli
    99. Itala Polesini
    100. Matteo Della Monica
    101. Carmelo Piscopo
    102. Mario Capasso
    103. Roberta Russo
    104. Immacolata Andolfo
    105. Achille Iolascon
    106. Massimo Carella
    107. Marco Castori
    108. Giuseppe Merla
    109. Filippo Aucella
    110. Pamela Raggi
    111. Carmen Marciano
    112. Rita Perna
    113. Matteo Bassetti
    114. Antonio Di Biagio
    115. Maurizio Sanguinetti
    116. Luca Masucci
    117. Chiara Gabbi
    118. Serafina Valente
    119. Susanna Guerrini
    120. Ilaria Meloni
    121. Maria Antonietta Mencarelli
    122. Caterina Lo Rizzo
    123. Elena Bargagli
    124. Marco Mandalà
    125. Alessia Giorli
    126. Lorenzo Salerni
    127. Giuseppe Fiorentino
    128. Patrizia Zucchi
    129. Pierpaolo Parravicini
    130. Elisabetta Menatti
    131. Stefano Baratti
    132. Tullio Trotta
    133. Ferdinando Giannattasio
    134. Gabriella Coiro
    135. Fabio Lena
    136. Domenico A. Coviello
    137. Cristina Mussini
    138. Alessandra Renieri
    139. Anna Maria Pinto

    Reviewed by ScreenIT

    1 evaluationAppears in 1 listLatest version Latest activity

  2. ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

    1. Rosanna Asselta
    2. Elvezia Maria Paraboschi
    3. Alberto Mantovani
    4. Stefano Duga

    Reviewed by ScreenIT

    1 evaluationAppears in 1 listLatest version Latest activity

  3. Genetic Profiles in Pharmacogenes Indicate Personalized Drug Therapy for COVID-19

    1. Lei-Yun Wang
    2. Jia-Jia Cui
    3. Qian-Ying OuYang
    4. Yan Zhan
    5. Yi-Min Wang
    6. Xiang-Yang Xu
    7. Cheng-Xian Guo
    8. Ji-Ye Yin

    Reviewed by ScreenIT

    1 evaluationAppears in 1 listLatest version Latest activity

  4. ACE2 Expression Is Increased in the Lungs of Patients With Comorbidities Associated With Severe COVID-19

    1. Bruna G G Pinto
    2. Antonio E R Oliveira
    3. Youvika Singh
    4. Leandro Jimenez
    5. Andre N A Gonçalves
    6. Rodrigo L T Ogava
    7. Rachel Creighton
    8. Jean Pierre Schatzmann Peron
    9. Helder I Nakaya

    Reviewed by ScreenIT

    1 evaluationAppears in 1 listLatest version Latest activity

  5. TWIRLS , a knowledge‐mining technology, suggests a possible mechanism for the pathological changes in the human host after coronavirus infection via ACE2

    1. Xiaoyang Ji
    2. Wenting Tan
    3. Chunming Zhang
    4. Yubo Zhai
    5. Yiching Hsueh
    6. Zhonghai Zhang
    7. Chunli Zhang
    8. Yanqiu Lu
    9. Bo Duan
    10. Guangming Tan
    11. Renhua Na
    12. Guohong Deng
    13. Gang Niu

    Reviewed by ScreenIT

    1 evaluationAppears in 1 listLatest version Latest activity

  6. Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center

    1. Mohsen Basiri
    2. Mohammad E Ghaffari
    3. Jiapeng Ruan
    4. Vagishwari Murugesan
    5. Nathaniel Kleytman
    6. Glenn Belinsky
    7. Amir Akhavan
    8. Andrew Lischuk
    9. Lilu Guo
    10. Katherine Klinger
    11. Pramod K Mistry

    • Curated by eLife

      eLife assessment

      This study presents valuable findings on the risk factors of avascular osteonecrosis in patients with Gaucher disease. The evidence supporting the claims of the authors is convincing. The work will interest clinicians who treat patients with inborn errors of metabolism.

    Reviewed by eLife

    3 evaluationsAppears in 1 listLatest version Latest activity

  7. A meta-analysis of genome-wide association studies of childhood wheezing phenotypes identifies ANXA1 as a susceptibility locus for persistent wheezing

    1. Raquel Granell
    2. John A Curtin
    3. Sadia Haider
    4. Negusse Tadesse Kitaba
    5. Sara A Mathie
    6. Lisa G Gregory
    7. Laura L Yates
    8. Mauro Tutino
    9. Jenny Hankinson
    10. Mauro Perretti
    11. Judith M Vonk
    12. Hasan S Arshad
    13. Paul Cullinan
    14. Sara Fontanella
    15. Graham C Roberts
    16. Gerard H Koppelman
    17. Angela Simpson
    18. Steve W Turner
    19. Clare S Murray
    20. Clare M Lloyd
    21. John W Holloway
    22. Adnan Custovic
    23. on behalf of UNICORN and Breathing Together investigators

    • Curated by eLife

      eLife assessment

      Genome-wide association studies on asthma have been challenging due to innate heterogeneity and the syndromic nature of asthma, variable accuracy in phenotyping, and potential gene-environment interactions. Here, the authors identified genetic loci associated with subtypes of childhood wheezing in combined data of multiple birth cohorts, by coupling latent class analysis of clinical phenotypic data with GWAS discovery. A mechanistically plausible genetic locus close to annexin 1 (ANXA1) was associated exclusively with early-onset persistent wheeze and provides new translatable molecular insight into asthma pathogenesis.

    Reviewed by eLife

    5 evaluationsAppears in 1 listLatest version Latest activity

  8. Common genetic variations in telomere length genes and lung cancer

    1. Ricardo Cortez Cardoso Penha
    2. Karl Smith-Byrne
    3. Joshua R Atkins
    4. Philip Haycock
    5. Siddhartha Kar
    6. Veryan Codd
    7. Nilesh J Samani
    8. Christopher P Nelson
    9. Maja Milojevic
    10. Aurélie AG Gabriel
    11. Christopher Amos
    12. Paul Brennan
    13. Rayjean J Hung
    14. Linda Kachuri
    15. James D McKay

    • Curated by eLife

      eLife assessment

      This study is of interest to epidemiologists and geneticists studying the association between telomere length and lung cancer risk. This work provides useful insight into risk factors for lung cancer. Overall, the results of this study are solid, as the genetic instrument used here is better powered and the battery of MR analysis makes this broad set of results convincing compared to previous work.

    Reviewed by eLife

    4 evaluationsAppears in 1 listLatest version Latest activity

  9. Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects

    1. Holly Y Chen
    2. Manju Swaroop
    3. Samantha Papal
    4. Anupam K Mondal
    5. Hyun Beom Song
    6. Laura Campello
    7. Gregory J Tawa
    8. Florian Regent
    9. Hiroko Shimada
    10. Kunio Nagashima
    11. Natalia de Val
    12. Samuel G Jacobson
    13. Wei Zheng
    14. Anand Swaroop

    • Curated by eLife

      eLife assessment

      This work provides an important pipeline for high-throughput screening platform to be used for drug discovery. The current data are incomplete. Further validation of human patients-derived iPSC clones and functional assays in mice will strengthen the conclusion.

    Reviewed by eLife

    5 evaluationsAppears in 1 listLatest version Latest activity

  10. Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

    1. Bryn D Webb
    2. Sara M Nowinski
    3. Ashley Solmonson
    4. Jaya Ganesh
    5. Richard J Rodenburg
    6. Joao Leandro
    7. Anthony Evans
    8. Hieu S Vu
    9. Thomas P Naidich
    10. Bruce D Gelb
    11. Ralph J DeBerardinis
    12. Jared Rutter
    13. Sander M Houten

    • Curated by eLife

      eLife assessment

      This paper is a first report of a human subject with an MCAT mutation showing reduced mitochondrial activity, but without defining the molecular mechanism connecting the loss of MCAT activity to mitochondrial dysfunction. It adds to the important field of mitochondrial disease genes and how they impact human physiology.

    Reviewed by eLife

    3 evaluationsAppears in 1 listLatest version Latest activity
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