Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Liani G. Devito"'
Autor:
Liani G. Devito, Eugénie S. Lim, Samuel M. O’Toole, Scott T.C. Shepherd, Daqi Deng, Hugang Feng, Taja Barber, William M. Drake, Samra Turajlic, Lyn Healy
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103611- (2024)
VHL disease is an inherited and autosomal dominant disorder affecting 1 in 36,0000 individuals worldwide. It is caused by von Hippel-Lindau (VHL) gene mutations and can affect both genders and all ethnic backgrounds (Nordstrom-O’Brien et al., 2009;
Externí odkaz:
https://doaj.org/article/a5c182d7d32646be97ee01377b0b973f
Autor:
Liani G. Devito, Zeinab Shadman Zanjani, James R. Evans, Annarita Scardamaglia, Henry Houlden, Sonia Gandhi, Lyn Healy
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103134- (2023)
Mutations or multiplications of the SNCA (Synuclein Alpha) gene cause rare autosomal dominant Parkinson’s disease (PD). The SNCA G51D missense mutation is associated with a synucleinopathy that shares PD and multiple system atrophy (MSA) characteri
Externí odkaz:
https://doaj.org/article/109104c721ef4032ad486c5484466892
Autor:
Liani G. Devito, Valentina M. Lionello, Francesco Muntoni, Francesco Saverio Tedesco, Lyn Healy
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103079- (2023)
Centronuclear myopathies (CNMs) are a group of inherited rare muscle disorders characterised by the abnormal position of the nucleus in the center of the muscle fiber. One of CNM is the X-Linked Myotubular Myopathy, caused by mutations in the myotubu
Externí odkaz:
https://doaj.org/article/cfaa9962540c4c82827e55ec27efcc0e
Publikováno v:
Stem Cell Research, Vol 65, Iss , Pp 102954- (2022)
Spinal muscular atrophy with lower extremity dominant (SMALED) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in lower limbs muscle weakness and paralysis. Mutations in DYNC1H1, which encod
Externí odkaz:
https://doaj.org/article/a2c91f08754146d2996825b6b98bc0d5
Autor:
Sissy E. Wamaitha, Katarzyna J. Grybel, Gregorio Alanis-Lobato, Claudia Gerri, Sugako Ogushi, Afshan McCarthy, Shantha K. Mahadevaiah, Lyn Healy, Rebecca A. Lea, Miriam Molina-Arcas, Liani G. Devito, Kay Elder, Phil Snell, Leila Christie, Julian Downward, James M. A. Turner, Kathy K. Niakan
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
The signals regulating the establishment and maintenance of the pluripotent epiblast in human embryos are unclear. Here, the authors use a bioinformatics approach to identify the role of IGF1 in human embryo development, and from this, propose a cult
Externí odkaz:
https://doaj.org/article/104a33cb9a9247e1b51c23eb671ab8a2
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102304- (2021)
Germline missense mutations in the BAF swi/snf chromatin remodeling subunit SMARCA4 are associated with neurodevelopmental disorders, including Coffin Siris Syndrome (CSS). Here, we generated an induced pluripotent stem cell line from a male patient
Externí odkaz:
https://doaj.org/article/d57bf9e8bd5d4a2ab5990dfc6908c3fe
Spinal muscular atrophy with lower extremity dominant (SMALED) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in lower limbs muscle weakness and paralysis. Mutations in DYNC1H1, which encod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83d14a958d7d8053e619ea15d235b1f
Autor:
Leila Christie, Phil Snell, Alice E. Chen, Paul Blakeley, Rabi Odia, Kathy K. Niakan, Kay Elder, Mahesh Sangrithi, Prabhakaran Munusamy, Ahmed Abdelbaki, Paul Serhal, Norah M. E. Fogarty, Liani G. Devito, Afshan McCarthy
During the first week of development, human embryos form a blastocyst comprised of an inner cell mass and trophectoderm (TE) cells, the latter of which are progenitors of placental trophoblast. Here we investigated the expression of transcripts in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e18df636cea561abfa01e07ed3978a74
https://doi.org/10.1101/2021.08.18.456785
https://doi.org/10.1101/2021.08.18.456785
Publikováno v:
Stem Cell Research
Stem Cell Research, Vol 53, Iss, Pp 102304-(2021)
Stem Cell Research, Vol 53, Iss, Pp 102304-(2021)
Germline missense mutations in the BAF swi/snf chromatin remodeling subunit SMARCA4 are associated with neurodevelopmental disorders, including Coffin Siris Syndrome (CSS). Here, we generated an induced pluripotent stem cell line from a male patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7960ea7e4e64f55ad4c7df596ea47dc4
https://pubmed.ncbi.nlm.nih.gov/33799280
https://pubmed.ncbi.nlm.nih.gov/33799280
Autor:
Gregorio Alanis-Lobato, Leila Christie, Rebecca A. Lea, Claudia Gerri, Phil Snell, Lyn Healy, Kathy K. Niakan, Miriam Molina-Arcas, Afshan McCarthy, Katarzyna J. Grybel, Julian Downward, Sugako Ogushi, Sissy E. Wamaitha, Shantha K. Mahadevaiah, Liani G. Devito, James M. A. Turner, Kay Elder
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Our understanding of the signalling pathways regulating early human development is limited, despite their fundamental biological importance. Here, we mine transcriptomics datasets to investigate signalling in the human embryo and identify expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fee1daf5bc58bfeeb0bb3358b1754d2
https://pubmed.ncbi.nlm.nih.gov/32034154
https://pubmed.ncbi.nlm.nih.gov/32034154