Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Anthony Argentaro"'
Autor:
Daniel Peter Czech, Stefan Bagheri-Fam, Andrew H. Sinclair, Francis Poulet, Peter Koopman, Brigitte Boizet-Bonhoure, Vincent R. Harley, Anthony Argentaro, Helena Sim
Publikováno v:
Journal of Developmental Origins of Health and Disease. 2:S35-S150
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ba9bd9647905f9673b8d945f564b411
https://doi.org/10.1017/s2040174411000481
https://doi.org/10.1017/s2040174411000481
Autor:
Scott Preiss, David A. Jans, Anthony Argentaro, Helena Sim, Vincent R. Harley, Andrew H. A. Clayton, Sabine Kelly
Publikováno v:
Journal of Biological Chemistry. 278:33839-33847
During mammalian sex determination, SOX9 is translocated into the nuclei of Sertoli cells within the developing XY gonad. The N-terminal nuclear localization signal (NLS) is contained within a SOX consensus calmodulin (CaM) binding region, thereby im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a17f5b074c47de4c97cee0c3ba76469
https://doi.org/10.1074/jbc.m302078200
https://doi.org/10.1074/jbc.m302078200
Publikováno v:
Molecular Genetics and Metabolism. 72:356-359
SOX13 is a member of the SOX family of transcription factors that encodes the type 1 diabetes autoantigen, ICA12. The SOX13 gene maps at chromosome 1q31.3-32.1 near a region containing a susceptibility locus for type 1 diabetes. SOX13 was assessed as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0d91828344d5fbed112657d3450d70f
https://doi.org/10.1006/mgme.2000.3136
https://doi.org/10.1006/mgme.2000.3136
Publikováno v:
Gene. 250:181-189
SOX13 is the member of the SOX ( S ry related HMG B OX ) family of transcription factors which encodes the type-1 diabetes autoantigen, ICA12, and is expressed in a number of tissues including pancreatic islets and arterial walls. By fluorescence in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72eba2c5e77080579d80c041c552fd8b
https://doi.org/10.1016/s0378-1119(00)00157-8
https://doi.org/10.1016/s0378-1119(00)00157-8
Publikováno v:
BMC Research Notes, Vol 4, Iss 1, p 200 (2011)
BMC Research Notes
BMC Research Notes
Background ATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked recessive developmental disorder resulting in severe mental retardation and mild
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22afc3bdc69dfee7875db620d57d0c5
https://doi.org/10.1186/1756-0500-4-200
https://doi.org/10.1186/1756-0500-4-200
Autor:
Terje Svingen, Andrew H. Sinclair, Peter Koopman, Vincent R. Harley, Alexander N. Combes, Anthony Argentaro, Stefan Bagheri-Fam
Publikováno v:
Human molecular genetics. 20(11)
X-linked ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome in males is characterized by mental retardation, facial dysmorphism, alpha thalassemia and urogenital abnormalities, including small testes. It is unclear how mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c44bd43c34e5f6fbaab70139990e9812
https://pubmed.ncbi.nlm.nih.gov/21427128
https://pubmed.ncbi.nlm.nih.gov/21427128
Autor:
Francis Poulat, Daniel Peter Czech, Peter Koopman, Anthony Argentaro, Andrew H. Sinclair, Vincent R. Harley, Helena Sim, Stefan Bagheri-Fam, Brigitte Boizet-Bonhoure
Publikováno v:
Endocrinology
Endocrinology, Endocrine Society, 2011, 152 (7), pp.2883-2893. ⟨10.1210/en.2010-1475⟩
Endocrinology, Endocrine Society, 2011, 152 (7), pp.2883-2893. ⟨10.1210/en.2010-1475⟩
The transcription factor sex-determining region of the Y chromosome (SRY) plays a key role in human sex determination, because mutations in SRY cause disorders of sex development in XY individuals. During gonadal development, Sry in pre-Sertoli cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5af6859bf3c0d99e2acd8772c4d39848
https://hal.archives-ouvertes.fr/hal-00616458
https://hal.archives-ouvertes.fr/hal-00616458
Autor:
Andrew J Pask, Anthony Argentaro, Jennifer Marshall-Graves, Liza O'Donnell, Mary Familari, Vincent R. Harley, Paisu Tang
Publikováno v:
The Journal of reproduction and development. 57(3)
Mutations in ATRX (alpha-thalassaemia and mental retardation on the X-chromosome) can give rise to ambiguous or female genitalia in XY males, implying a role for ATRX in testicular development. Studies on ATRX have mainly focused on its crucial role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98649ffd8fda133f7d9d325936e097bd
https://pubmed.ncbi.nlm.nih.gov/19444003
https://pubmed.ncbi.nlm.nih.gov/19444003
Publikováno v:
Trends in endocrinology and metabolism: TEM. 19(6)
In the mammalian embryo, SRY and SOX9 are key Sertoli cell proteins that drive the development of the bipotential gonad into a testes rather than an ovary, leading ultimately to the male phenotype. Clinical SRY and SOX9 mutations causing disorders of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a88e5d461c756dd82b8ec467ff5109e1
https://pubmed.ncbi.nlm.nih.gov/18585925
https://pubmed.ncbi.nlm.nih.gov/18585925
Autor:
David Neuhaus, Daniela Rhodes, Ji-Chun Yang, Richard J. Gibbons, Lynda Chapman, Monika S. Kowalczyk, Douglas R. Higgs, Anthony Argentaro
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 104(29)
The chromatin-associated protein ATRX was originally identified because mutations in the ATRX gene cause a severe form of syndromal X-linked mental retardation associated with α-thalassemia. Half of all of the disease-associated missense mutations c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1023ba7c50e5784166598aae8de3211a
http://ora.ox.ac.uk/objects/uuid:8e74769e-e564-4b9f-b9ac-7f4013698d49
http://ora.ox.ac.uk/objects/uuid:8e74769e-e564-4b9f-b9ac-7f4013698d49