A system to enrich for primitive streak-derivatives, definitive endoderm and mesoderm, from pluripotent cells in culture.

Autor: Svetlana Vassilieva, Hwee Ngee Goh, Kevin X Lau, James N Hughes, Mary Familari, Peter D Rathjen, Joy Rathjen

Publikováno v: PLoS ONE, Vol 7, Iss 6, p e38645 (2012)

Two lineages of endoderm develop during mammalian embryogenesis, the primitive endoderm in the pre-implantation blastocyst and the definitive endoderm at gastrulation. This complexity of endoderm cell populations is mirrored during pluripotent cell d

Externí odkaz: https://doaj.org/article/5f29d826423b4e4caaa8e01bfb193c31

Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy

Autor: Ruby E. Dawson, Alvaro F. Nieto Guil, Louise J. Robertson, Sandra G. Piltz, James N. Hughes, Paul Q. Thomas

Publikováno v: Neurobiology of Disease, Vol 134, Iss , Pp - (2020)

Mutations in the GAP activity toward RAGs 1 (GATOR1) complex genes (DEPDC5, NPRL2 and NPRL3) have been associated with focal epilepsy and focal cortical dysplasia (FCD). GATOR1 functions as an inhibitor of the mTORC1 signalling pathway, indicating th

Externí odkaz: https://doaj.org/article/e1fc166522f74d62b0762995995d9340

SOX3 promotes generation of committed spermatogonia in postnatal mouse testes

Autor: Robin Lovell-Badge, Paul Q. Thomas, Dale McAninch, Hue M. La, Robin M. Hobbs, James N. Hughes, Juho Antti Mäkelä

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports

SOX3 is a transcription factor expressed within the developing and adult nervous system where it mostly functions to help maintain neural precursors. Sox3 is also expressed in other locations, notably within the spermatogonial stem/progenitor cell po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c0314dd88afda1a6d0121acdc77f46f
http://link.springer.com/article/10.1038/s41598-020-63290-3

Identification of anIGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism

Autor: Paul Q. Thomas, Thomas Morgan, Jessica K Heatlie, Matthew K. Aubert, Alison Gardner, Joseph L. Belsky, Jozef Gecz, James N. Hughes

Publikováno v: Clinical Endocrinology. 85:609-615

SummaryObjectives IGSF1 deficiency syndrome (IDS) is a recently described X-linked congenital central hypothyroidism disorder characterized by loss-of-function mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. The phenotypic spectrum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245e0f4c205a068cafb4dde10ac53219
https://doi.org/10.1111/cen.13094

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

Autor: Beatriz Puisac, Alina Warenik-Szymankiewicz, Stefania Gimelli, Dagmar Wilhelm, Sean M. Wilson, Juan Pié, Serge Nef, Paul Q. Thomas, Katie L. Ayers, Anna Spik, Pierre Calvel, Kamila Kusz-Zamelczyk, Stefan Bagheri-Fam, Frédérique Sloan-Béna, Sultana M.H. Faradz, Huijun Chen, Jadwiga Jaruzelska, Gorjana Robevska, James N. Hughes, Andrew H. Sinclair

Publikováno v: PLOS ONE, Vol. 15, No 1 (2020) P. e0227411
PLoS ONE, Vol 15, Iss 1, p e0227411 (2020)
PLoS ONE
PLoS ONE, Public Library of Science, 2020, 15 (1), pp.e0227411. ⟨10.1371/journal.pone.0227411⟩
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname

International audience; Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individuals, however, most are still unexplained at the molecular level. Here, we present a novel gene,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88bbe96a0018d299dacc3ffa8d3df79b
https://doi.org/10.1371/journal.pone.0227411