Genetics research

Definition

Genetics research is the scientific discipline concerned with the study of the role of genes in traits such as the development of disease. It has a key role in identifying potential targets for therapeutic intervention and also in understanding genetically based variations in response to therapeutic interventions.

Featured

Latest Research and Reviews

  • Research |

    Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt and colleagues report that mutations in OSGEP, TP53RK, TPRKB and LAGE3, genes encoding KEOPS-complex subunits, cause Galloway–Mowat syndrome, a recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. Functional studies suggest that the phenotypes result from impaired protein translation, thus leading to endoplasmic reticulum stress and apoptosis.

    • Daniela A Braun
    • , Jia Rao
    • , Geraldine Mollet
    • , David Schapiro
    • , Marie-Claire Daugeron
    • , Weizhen Tan
    • , Olivier Gribouval
    • , Olivia Boyer
    • , Patrick Revy
    • , Tilman Jobst-Schwan
    • , Johanna Magdalena Schmidt
    • , Jennifer A Lawson
    • , Denny Schanze
    • , Shazia Ashraf
    • , Jeremy F P Ullmann
    • , Charlotte A Hoogstraten
    • , Nathalie Boddaert
    • , Bruno Collinet
    • , Gaëlle Martin
    • , Dominique Liger
    • , Svjetlana Lovric
    • , Monica Furlano
    • , I Chiara Guerrera
    • , Oraly Sanchez-Ferras
    • , Jennifer F Hu
    • , Anne-Claire Boschat
    • , Sylvia Sanquer
    • , Björn Menten
    • , Sarah Vergult
    • , Nina De Rocker
    • , Merlin Airik
    • , Tobias Hermle
    • , Shirlee Shril
    • , Eugen Widmeier
    • , Heon Yung Gee
    • , Won-Il Choi
    • , Carolin E Sadowski
    • , Werner L Pabst
    • , Jillian K Warejko
    • , Ankana Daga
    • , Tamara Basta
    • , Verena Matejas
    • , Karin Scharmann
    • , Sandra D Kienast
    • , Babak Behnam
    • , Brendan Beeson
    • , Amber Begtrup
    • , Malcolm Bruce
    • , Gaik-Siew Ch'ng
    • , Shuan-Pei Lin
    • , Jui-Hsing Chang
    • , Chao-Huei Chen
    • , Megan T Cho
    • , Patrick M Gaffney
    • , Patrick E Gipson
    • , Chyong-Hsin Hsu
    • , Jameela A Kari
    • , Yu-Yuan Ke
    • , Cathy Kiraly-Borri
    • , Wai-ming Lai
    • , Emmanuelle Lemyre
    • , Rebecca Okashah Littlejohn
    • , Amira Masri
    • , Mastaneh Moghtaderi
    • , Kazuyuki Nakamura
    • , Fatih Ozaltin
    • , Marleen Praet
    • , Chitra Prasad
    • , Agnieszka Prytula
    • , Elizabeth R Roeder
    • , Patrick Rump
    • , Rhonda E Schnur
    • , Takashi Shiihara
    • , Manish D Sinha
    • , Neveen A Soliman
    • , Kenza Soulami
    • , David A Sweetser
    • , Wen-Hui Tsai
    • , Jeng-Daw Tsai
    • , Rezan Topaloglu
    • , Udo Vester
    • , David H Viskochil
    • , Nithiwat Vatanavicharn
    • , Jessica L Waxler
    • , Klaas J Wierenga
    • , Matthias T F Wolf
    • , Sik-Nin Wong
    • , Sebastian A Leidel
    • , Gessica Truglio
    • , Peter C Dedon
    • , Annapurna Poduri
    • , Shrikant Mane
    • , Richard P Lifton
    • , Maxime Bouchard
    • , Peter Kannu
    • , David Chitayat
    • , Daniella Magen
    • , Bert Callewaert
    • , Herman van Tilbeurgh
    • , Martin Zenker
    • , Friedhelm Hildebrandt
    •  & Corinne Antignac
  • Research | | open

    • Sergio Burillo-Sanz
    • , Marco-Antonio Montes-Cano
    • , José-Raúl García-Lozano
    • , Lourdes Ortiz-Fernández
    • , Norberto Ortego-Centeno
    • , Francisco-José García-Hernández
    • , Gerard Espinosa
    • , Genaro Graña-Gil
    • , Juan Sánchez-Bursón
    • , María Rosa Juliá
    • , Roser Solans
    • , Ricardo Blanco
    • , Ana-Celia Barnosi-Marín
    • , Ricardo Gómez De la Torre
    • , Patricia Fanlo
    • , Mónica Rodríguez-Carballeira
    • , Luis Rodríguez-Rodríguez
    • , Teresa Camps
    • , Santos Castañeda
    • , Juan-Jose Alegre-Sancho
    • , Javier Martín
    •  & María Francisca González-Escribano
  • Research | | open

    • James D. Mills
    • , Anand M. Iyer
    • , Jackelien Scheppingen
    • , Anika Bongaarts
    • , Jasper J. Anink
    • , Bart Janssen
    • , Till S. Zimmer
    • , Wim G. Spliet
    • , Peter C. Rijen
    • , Floor E. Jansen
    • , Martha Feucht
    • , Johannes A. Hainfellner
    • , Pavel Krsek
    • , Josef Zamecnik
    • , Katarzyna Kotulska
    • , Sergiusz Jozwiak
    • , Anna Jansen
    • , Lieven Lagae
    • , Paolo Curatolo
    • , David J. Kwiatkowski
    • , R. Jeroen Pasterkamp
    • , Ketharini Senthilkumar
    • , Lars Oerthel
    • , Marco F. Hoekman
    • , Jan A. Gorter
    • , Peter B. Crino
    • , Angelika Mühlebner
    • , Brendon P. Scicluna
    •  & Eleonora Aronica

News and Comment