Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Leonardo Murgiano"'
Autor:
Raghavi Sudharsan, Leonardo Murgiano, Hsin-Yao Tang, Timothy W. Olsen, Venkata R. M. Chavali, Gustavo D. Aguirre, William A. Beltran
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract Prolactin (PRL) hormone functions as a pleiotropic cytokine with a protective role in the retina. We recently identified by transcriptome profiling that PRL is one of the most highly upregulated mRNAs in the retinas of mutant rcd1 (PDE6B) an
Externí odkaz:
https://doaj.org/article/7374429b174746bfb853812f0123472b
Autor:
Leonardo Murgiano, Gianfranco Militerno, Fiorella Sbarra, Cord Drögemüller, Joana G. P. Jacinto, Arcangelo Gentile, Marilena Bolcato
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 34, Iss 4, Pp 1657-1661 (2020)
Abstract Background Chianina, Romagnola, and Marchigiana are the 3 most important Italian breeds of cattle raised in the Apennine Mountains. Inherited disorders have been reported in the Chianina and Romagnola breeds but not in the Marchigiana breed.
Externí odkaz:
https://doaj.org/article/f426b9f7a9e242e3b5d261d372278b43
Autor:
Leonardo Murgiano, Doreen Becker, Dina Torjman, Jessica K. Niggel, Ausra Milano, Cheryl Cullen, Rui Feng, Fan Wang, Vidhya Jagannathan, Sue Pearce-Kelling, Martin L. Katz, Tosso Leeb, Gustavo D. Aguirre
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 9, Iss 2, Pp 425-437 (2019)
Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to pr
Externí odkaz:
https://doaj.org/article/b360b93802cd41f18edb473e292b5ad5
Publikováno v:
PLoS Genetics, Vol 16, Iss 11, p e1009059 (2020)
Externí odkaz:
https://doaj.org/article/fe662b1866d047cbb44d96590ec87434
Autor:
Leonardo Murgiano, Dominik P. Waluk, Rachel Towers, Natalie Wiedemar, Joëlle Dietrich, Vidhya Jagannathan, Michaela Drögemüller, Pierre Balmer, Tom Druet, Arnaud Galichet, M. Cecilia Penedo, Eliane J. Müller, Petra Roosje, Monika M. Welle, Tosso Leeb
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 6, Iss 9, Pp 2963-2970 (2016)
We investigated a family of horses exhibiting irregular vertical stripes in their hair coat texture along the neck, back, hindquarters, and upper legs. This phenotype is termed “brindle” by horse breeders. We propose the term “brindle 1 (BR1)
Externí odkaz:
https://doaj.org/article/7e53b415bac24ae1b0b9f45106fe7f69
Autor:
Leonardo Murgiano, Vera Shirokova, Monika Maria Welle, Vidhya Jagannathan, Philippe Plattet, Anna Oevermann, Aldona Pienkowska-Schelling, Daniele Gallo, Arcangelo Gentile, Marja L Mikkola, Cord Drögemüller
Publikováno v:
PLoS Genetics, Vol 12, Iss 5, p e1005688 (2016)
[This corrects the article DOI: 10.1371/journal.pgen.1005427.].
Externí odkaz:
https://doaj.org/article/b2375a59a2ff42529530936ed74b81a6
Autor:
Leonardo Murgiano, Vera Shirokova, Monika Maria Welle, Vidhya Jagannathan, Philippe Plattet, Anna Oevermann, Aldona Pienkowska-Schelling, Daniele Gallo, Arcangelo Gentile, Marja Mikkola, Cord Drögemüller
Publikováno v:
PLoS Genetics, Vol 11, Iss 7, p e1005427 (2015)
Four related cows showed hairless streaks on various parts of the body with no correlation to the pigmentation pattern. The stripes occurred in a consistent pattern resembling the lines of Blaschko. The non-syndromic hairlessness phenotype observed o
Externí odkaz:
https://doaj.org/article/5ee5e1d31bd44022862c27fe945fb72d
Autor:
Leonardo Murgiano, Vidhya Jagannathan, Cinzia Benazzi, Marilena Bolcato, Barbara Brunetti, Luisa Vera Muscatello, Keren Dittmer, Christian Piffer, Arcangelo Gentile, Cord Drögemüller
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e94861 (2014)
During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assumin
Externí odkaz:
https://doaj.org/article/fc3ddbce13084684b018de6b877096b0
Autor:
Leonardo Murgiano, Vidhya Jagannathan, Valerio Calderoni, Monika Joechler, Arcangelo Gentile, Cord Drögemüller
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e110628 (2014)
Cataract is a known condition leading to opacification of the eye lens causing partial or total blindness. Mutations are known to cause autosomal dominant or recessive inherited forms of cataracts in humans, mice, rats, guinea pigs and dogs. The use
Externí odkaz:
https://doaj.org/article/9083c279c0ff4c19ab742f5566f64735
Autor:
Rachel E Towers, Leonardo Murgiano, David S Millar, Elise Glen, Ana Topf, Vidhya Jagannathan, Cord Drögemüller, Judith A Goodship, Angus J Clarke, Tosso Leeb
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e81625 (2013)
Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well
Externí odkaz:
https://doaj.org/article/f140f983fb22404b93968702ebb6a3f3