Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.

by Amy E O'Connell, Maxim V Gerashchenko, Marie-Francoise O'Donohue, Samantha M Rosen, Eric Huntzinger, Diane Gleeson, Antonella Galli, Edward Ryder, Siqi Cao, Quinn Murphy, Shideh Kazerounian, Sarah U Morton, Klaus Schmitz-Abe, Vadim N Gladyshev, Pierre-Emmanuel Gleizes, Bertrand Séraphin, Pankaj B Agrawal
Published 2019-02-01

FBXO7 sensitivity of phenotypic traits elucidated by a hypomorphic allele.

by Carmen Ballesteros Reviriego, Simon Clare, Mark J Arends, Emma L Cambridge, Agnieszka Swiatkowska, Susana Caetano, Bushra Abu-Helil, Leanne Kane, Katherine Harcourt, David A Goulding, Diane Gleeson, Edward Ryder, Brendan Doe, Jacqueline K White, Louise van der Weyden, Gordon Dougan, David J Adams, Anneliese O Speak
Published 2019-01-01

The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program

by Lukas F. Reissig, Anna Nele Herdina, Julia Rose, Barbara Maurer-Gesek, Jenna L. Lane, Fabrice Prin, Robert Wilson, Emily Hardman, Antonella Galli, Catherine Tudor, Elizabeth Tuck, Cecilia Icoresi-Mazzeo, Jacqueline K. White, Ed Ryder, Diane Gleeson, David J. Adams, Stefan H. Geyer, Timothy J. Mohun, Wolfgang J. Weninger
Published 2019-08-01

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

by Neil V Morgan, Mark R Morris, Hakan Cangul, Diane Gleeson, Anna Straatman-Iwanowska, Nicholas Davies, Stephen Keenan, Shanaz Pasha, Fatimah Rahman, Dean Gentle, Maaike P G Vreeswijk, Peter Devilee, Margaret A Knowles, Serdar Ceylaner, Richard C Trembath, Carlos Dalence, Erol Kismet, Vedat Köseoğlu, Hans-Christoph Rossbach, Paul Gissen, David Tannahill, Eamonn R Maher
Published 2010-02-01