Disease genetics

Disease genetics, of human, animal and plant diseases, investigates the consequences of pathogenic (host) genetic variants as the major causes of heritable disorders (monogenic diseases) as well as the consequences of genome variation in the population to the variable predisposition of the individual to complex diseases with infectious or environmental causes.

Latest Research and Reviews

  • Research |

    • Candelaria Vergara
    • , Priya Duggal
    • , Chloe L. Thio
    • , Ana Valencia
    • , Thomas R. O’ Brien
    • , Rachel Latanich
    • , Winston Timp
    • , Eric O. Johnson
    • , Alex H. Kral
    • , Alessandra Mangia
    • , James J. Goedert
    • , Valeria Piazzola
    • , Shruti H. Mehta
    • , Gregory D. Kirk
    • , Marion G. Peters
    • , Sharyne M. Donfield
    • , Brian R. Edlin
    • , Michael P. Busch
    • , Graeme Alexander
    • , Edward L. Murphy
    • , Arthur Y. Kim
    • , Georg M. Lauer
    • , Raymond T. Chung
    • , Matthew E. Cramp
    • , Andrea L. Cox
    • , Salim I. Khakoo
    • , Hugo R. Rosen
    • , Laurent Alric
    • , Sarah J. Wheelan
    • , Genevieve L. Wojcik
    • , David L. Thomas
    •  & Margaret A. Taub
  • Research |

    • Todd A. Johnson
    • , Yoichi Mashimo
    • , Jer-Yuarn Wu
    • , Dankyu Yoon
    • , Akira Hata
    • , Michiaki Kubo
    • , Atsushi Takahashi
    • , Tatsuhiko Tsunoda
    • , Kouichi Ozaki
    • , Toshihiro Tanaka
    • , Kaoru Ito
    • , Hiroyuki Suzuki
    • , Hiromichi Hamada
    • , Tohru Kobayashi
    • , Toshiro Hara
    • , Chien-Hsiun Chen
    • , Yi-Ching Lee
    • , Yi-Min Liu
    • , Li-Ching Chang
    • , Chun-Ping Chang
    • , Young-Mi Hong
    • , Gi-Young Jang
    • , Sin-Weon Yun
    • , Jeong-Jin Yu
    • , Kyung-Yil Lee
    • , Jae-Jung Kim
    • , Taesung Park
    • , Jong-Keuk Lee
    • , Yuan-Tsong Chen
    •  & Yoshihiro Onouchi
  • Research
    | Open Access

    SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoimmune diseases.

    • Jérôme Hadjadj
    • , Carla Noemi Castro
    • , Maud Tusseau
    • , Marie-Claude Stolzenberg
    • , Fabienne Mazerolles
    • , Nathalie Aladjidi
    • , Martin Armstrong
    • , Houman Ashrafian
    • , Ioana Cutcutache
    • , Georg Ebetsberger-Dachs
    • , Katherine S. Elliott
    • , Isabelle Durieu
    • , Nicole Fabien
    • , Mathieu Fusaro
    • , Maximilian Heeg
    • , Yohan Schmitt
    • , Marc Bras
    • , Julian C. Knight
    • , Jean-Christophe Lega
    • , Gaetan Lesca
    • , Anne-Laure Mathieu
    • , Marion Moreews
    • , Baptiste Moreira
    • , Audrey Nosbaum
    • , Matthew Page
    • , Cécile Picard
    • , T. Ronan Leahy
    • , Isabelle Rouvet
    • , Ethel Ryan
    • , Damien Sanlaville
    • , Klaus Schwarz
    • , Andrew Skelton
    • , Jean-Francois Viallard
    • , Sebastien Viel
    • , Marine Villard
    • , Isabelle Callebaut
    • , Capucine Picard
    • , Thierry Walzer
    • , Stephan Ehl
    • , Alain Fischer
    • , Bénédicte Neven
    • , Alexandre Belot
    •  & Frédéric Rieux-Laucat

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