Immunology (including allergy)

  • Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene
    Simon Edvardson, Shingo Kose, Chaim Jalas, Aviva Fattal-Valevski, Ai Watanabe, Yutaka Ogawa, Hiroshi Mamada, Anastasia M Fedick, Shay Ben-Shachar, Nathan R Treff, Avraham Shaag, Sherri Bale, Jutta Gärtner, Naoko Imamoto, Orly Elpeleg
  • MicroRNA-129-1 acts as tumour suppressor and induces cell cycle arrest of GBM cancer cells through targeting IGF2BP3 and MAPK1
    Fatemeh Kouhkan, Naser Mobarra, Mina Soufi-Zomorrod, Farid Keramati, Seyed Mohammad Ali Hosseini Rad, Mehrnoosh Fathi-Roudsari, Rezvan Tavakoli, Athena Hajarizadeh, Said Ziaei, Reyhaneh Lahmi, Hamed Hanif, Masoud Soleimani
  • MKS1 regulates ciliary INPP5E levels in Joubert syndrome
    Gisela G Slaats, Christine R Isabella, Hester Y Kroes, Jennifer C Dempsey, Hendrik Gremmels, Glen R Monroe, Ian G Phelps, Karen J Duran, Jonathan Adkins, Sairam A Kumar, Dana M Knutzen, Nine V Knoers, Nancy J Mendelsohn, David Neubauer, Sotiria D Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A Glass, Melissa A Parisi, Edgar A Otto, Colin A Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H Giles, Dan Doherty
  • Genome-wide significant association with seven novel multiple sclerosis risk loci
    Christina M Lill, Felix Luessi, Antonio Alcina, Ekaterina A Sokolova, Nerea Ugidos, Belén de la Hera, Léna Guillot-Noël, Sunny Malhotra, Eva Reinthaler, Brit-Maren M Schjeide, Julia Y Mescheriakova, Andriy Mashychev, Inken Wohlers, Denis A Akkad, Orhan Aktas, Iraide Alloza, Alfredo Antigüedad, Rafa Arroyo, Ianire Astobiza, Paul Blaschke, Alexei N Boyko, Mathias Buttmann, Andrew Chan, Thomas Dörner, Joerg T Epplen, Olga O Favorova, Maria Fedetz, Oscar Fernández, Angel García-Martínez, Lisa-Ann Gerdes, Christiane Graetz, Hans-Peter Hartung, Sabine Hoffjan, Guillermo Izquierdo, Denis S Korobko, Antje Kroner, Christian Kubisch, Tania Kümpfel, Laura Leyva, Peter Lohse, Nadezhda A Malkova, Xavier Montalban, Ekaterina V Popova, Peter Rieckmann, Alexei S Rozhdestvenskii, Christiane Schmied, Inna V Smagina, Ekaterina Y Tsareva, Alexander Winkelmann, Uwe K Zettl, Harald Binder, Isabelle Cournu-Rebeix, Rogier Hintzen, Alexander Zimprich, Manuel Comabella, Bertrand Fontaine, Elena Urcelay, Koen Vandenbroeck, Maxim Filipenko, Fuencisla Matesanz, Frauke Zipp, Lars Bertram
  • Cowden's syndrome with immunodeficiency
    Michael J Browning, Anita Chandra, Valentina Carbonaro, Klaus Okkenhaug, Julian Barwell
  • Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy
    David G Warnock, Christie P Thomas, Bojan Vujkovac, Ruth C Campbell, Joel Charrow, Dawn A Laney, Leslie L Jackson, William R Wilcox, Christoph Wanner
  • HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
    Ronja Hollstein, David A Parry, Lisa Nalbach, Clare V Logan, Tim M Strom, Verity L Hartill, Ian M Carr, Georg C Korenke, Sandeep Uppal, Mushtaq Ahmed, Thomas Wieland, Alexander F Markham, Christopher P Bennett, Gabriele Gillessen-Kaesbach, Eamonn G Sheridan, Frank J Kaiser, David T Bonthron
  • Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
    Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau, Mikael Nissbeck, Boonchai Boonyawat, Andrew J Coombs, Alessandra Renieri, Mafalda Mucciolo, Annabella Marozza, Sabrina Buoni, Lesley Turner, Hongbing Li, Ameer Jarrar, Mathura Sabanayagam, Melanie Kirby, Mary Shago, Dalila Pinto, Jason N Berman, Stephen W Scherer, Anders Virtanen, Yigal Dror
  • Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans
    Yi-Hsiang Hsu, Youfang Liu, Marian T Hannan, William Maixner, Shad B Smith, Luda Diatchenko, Yvonne M Golightly, Hylton B Menz, Virginia B Kraus, Michael Doherty, AG Wilson, Joanne M Jordan
  • Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
    N Lavoine, C Colas, M Muleris, S Bodo, A Duval, N Entz-Werle, F Coulet, O Cabaret, F Andreiuolo, C Charpy, G Sebille, Q Wang, S Lejeune, M P Buisine, D Leroux, G Couillault, G Leverger, J P Fricker, R Guimbaud, M Mathieu-Dramard, G Jedraszak, O Cohen-Hagenauer, L Guerrini-Rousseau, F Bourdeaut, J Grill, O Caron, S Baert-Dusermont, J Tinat, G Bougeard, T Frébourg, L Brugières

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