Zobrazeno 1 - 7
of 7
pro vyhledávání: '"María Lachgar"'
Autor:
María Lachgar-Ruiz, Matías Morín, Elisa Martelletti, Neil J. Ingham, Lorenzo Preite, Morag A. Lewis, Luciana Santos Serrão de Castro, Karen P. Steel, Miguel Ángel Moreno-Pelayo
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 8 (2023)
Externí odkaz:
https://doaj.org/article/c6c51b6550434d268a2800313a33a8f2
Autor:
Morag A. Lewis, Maria Lachgar-Ruiz, Francesca Di Domenico, Graham Duddy, Jing Chen, Sergio Fernandez, Matias Morin, Gareth Williams, Miguel Angel Moreno Pelayo, Karen P. Steel
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-20 (2024)
Abstract Background Progressive hearing loss is a common problem in the human population with no effective therapeutics currently available. However, it has a strong genetic contribution, and investigating the genes and regulatory interactions underl
Externí odkaz:
https://doaj.org/article/18ebda7be878464080ab6f75b1462e0e
Autor:
Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin
Publikováno v:
Proceedings of the National Academy of Sciences. 119
Discovery of deafness genes and elucidating their functions have substantially contributed to our understanding of hearing physiology and its pathologies. Here we report on DNA variants in MINAR2 , encoding membrane integral NOTCH2-associated recepto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56c9a88fa2335a3b60b5bbd6daecced
https://doi.org/10.1073/pnas.2204084119
https://doi.org/10.1073/pnas.2204084119
Autor:
Guney, Bademci, María, Lachgar-Ruiz, Mangesh, Deokar, Mohammad Faraz, Zafeer, Clemer, Abad, Muzeyyen, Yildirim Baylan, Neil J, Ingham, Jing, Chen, Claire J, Sineni, Nirmal, Vadgama, Ioannis, Karakikes, Shengru, Guo, Duygu, Duman, Nitu, Singh, Gaurav, Harlalka, Shirish P, Jain, Barry A, Chioza, Katherina, Walz, Karen P, Steel, Jamal, Nasir, Mustafa, Tekin
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(26)
Discovery of deafness genes and elucidating their functions have substantially contributed to our understanding of hearing physiology and its pathologies. Here we report on DNA variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eacbaf761d45a5055cb10b697436b728
https://pubmed.ncbi.nlm.nih.gov/35960848
https://pubmed.ncbi.nlm.nih.gov/35960848
Publikováno v:
Genes
Volume 12
Issue 3
Genes, Vol 12, Iss 411, p 411 (2021)
Volume 12
Issue 3
Genes, Vol 12, Iss 411, p 411 (2021)
Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f00823afd0ee8e4d06bd0cc0fcdde3e
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1779
The amyloid -β peptide (Aβ) is the main component of the amyloid plaques in Alzheimer's disease (AD). It has been widely demonstrated that Aβ is toxic to neurons and is associated with AD pathology. However, Aβ also appears to have an important b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0e680238afde69482a1bc3514ca8d14c
https://pubmed.ncbi.nlm.nih.gov/29886545
https://pubmed.ncbi.nlm.nih.gov/29886545
Autor:
Alejandro López-Tobón, Carlo Emanuele Villa, Cristina Cheroni, Sebastiano Trattaro, Nicolò Caporale, Paola Conforti, Raffaele Iennaco, Maria Lachgar, Marco Tullio Rigoli, Berta Marcó de la Cruz, Pietro Lo Riso, Erika Tenderini, Flavia Troglio, Marco De Simone, Isabel Liste-Noya, Giuseppe Macino, Massimiliano Pagani, Elena Cattaneo, Giuseppe Testa
Publikováno v:
Stem Cell Reports, Vol 13, Iss 5, Pp 847-861 (2019)
Summary: The regulation of the proliferation and polarity of neural progenitors is crucial for the development of the brain cortex. Animal studies have implicated glycogen synthase kinase 3 (GSK3) as a pivotal regulator of both proliferation and pola
Externí odkaz:
https://doaj.org/article/59aa1d8855cf47e49b953ab485034343