Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Saumil Sethna"'
Autor:
Saumil Sethna, Patrick A. Scott, Arnaud P. J. Giese, Todd Duncan, Xiaoying Jian, Sheikh Riazuddin, Paul A. Randazzo, T. Michael Redmond, Steven L. Bernstein, Saima Riazuddin, Zubair M. Ahmed
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Age-related macular degeneration (AMD) has been connected to deficits in autophagy. Here, the authors demonstrate, in mice and dry-AMD patient samples, that calcium and integrin binding protein 2 (CIB2) regulates Rheb-mTORC1 signaling axis, and subse
Externí odkaz:
https://doaj.org/article/28f9c426a95d413a8bcf70e1675378bc
Autor:
Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed
Publikováno v:
eLife, Vol 10 (2021)
Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of PCDH15 (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for
Externí odkaz:
https://doaj.org/article/b6069badb6b14498bff5ec71588e5683
Autor:
Carolina Cano Macip, Rokib Hasan, Victoria Hoznek, Jihyun Kim, Louis E. Metzger, Saumil Sethna, Noah Davidsohn
Aging is a complex process best characterized as the chronic dysregulation of cellular processes leading to deteriorated tissue and organ function. While aging cannot currently be prevented, its impact on lifespan and healthspan in the elderly can po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a29dea906bbc3af52e719227d443a544
https://doi.org/10.1101/2023.01.04.522507
https://doi.org/10.1101/2023.01.04.522507
Autor:
Saima Riazuddin, Sairah Yousaf, Zubair M. Ahmed, Muhammad Ali Chaudhary, Saumil Sethna, Rehan S. Shaikh
Publikováno v:
Pigment Cell Melanoma Res
Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K(+)-dependent Na(+)/Ca(2+) exchanger, is among the known color-coding genes that participate in melanogenesis by maintaining pH in mela
Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger ano
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d90affd57c3665e6afa8a646fe90db51
https://doi.org/10.20944/preprints202201.0466.v1
https://doi.org/10.20944/preprints202201.0466.v1
Autor:
Sairah, Yousaf, Nabeela, Tariq, Zureesha, Sajid, Shakeel A, Sheikh, Tasleem, Kausar, Yar M, Waryah, Rehan S, Shaikh, Ali M, Waryah, Saumil, Sethna, Saima, Riazuddin, Zubair M, Ahmed
Publikováno v:
Genes. 13(4)
Cone photoreceptor dysfunction represents a clinically heterogenous group of disorders characterized by nystagmus, photophobia, reduced central or color vision, and macular dystrophy. Here, we described the molecular findings and clinical manifestati
Autor:
Julie M. Schultz, Zubair M. Ahmed, Robert B. Hufnagel, Todd Duncan, Sehar Riaz, Carmen C. Brewer, Thomas B. Friedman, Andrew J. Griffith, Saumil Sethna, Arnaud P. J. Giese, T. Michael Redmond, Wadih M. Zein, Saima Riazuddin
Publikováno v:
eLife, Vol 10 (2021)
Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of PCDH15 (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for
Autor:
Arnaud P. J. Giese, Saumil Sethna, Julie M. Schultz, Sehar Riaz, Andrew J. Griffith, T. Michael Redmond, Wadih M. Zein, Thomas B. Friedman, Carmen C. Brewer, Saima Riazuddin, Zubair Ahmed, Robert B. Hufnagel, Todd Duncan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f6c18299b0970e362d21d1291c42a3c
https://doi.org/10.7554/elife.67361.sa2
https://doi.org/10.7554/elife.67361.sa2
Autor:
Saima Riazuddin, Zubair M. Ahmed, Robert B. Hufnagel, Todd Duncan, Sehar Riaz, T M Redmond, Arnaud P. J. Giese, Andrew J. Griffith, Carmen C. Brewer, Saumil Sethna, Thomas B. Friedman, Wadih M. Zein, Julie M. Schultz
Usher syndrome type I (USH1) is characterized by congenital deafness, vestibular areflexia, and progressive retinal degeneration with age. The protein-truncating p.Arg245* founder variant of PCDH15 has an ~2% carrier frequency among Ashkenazi Jews, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cad16a601dca337a4948cf4e28cba329
https://doi.org/10.1101/2021.06.08.447565
https://doi.org/10.1101/2021.06.08.447565
Autor:
Zubair M. Ahmed, Norann A. Zaghloul, Rebecca McFarland, Saumil Sethna, Carmen C. Leitch, Sukanya Lodh, Christopher J. Westlake, Maggie S. Matern, Timothy L. Hostelley, Ronna Hertzano, Jessica E. Nesmith
Publikováno v:
Hum Mol Genet
Alström syndrome (OMIM #203800) is an autosomal recessive obesity ciliopathy caused by loss-of-function mutations in the ALMS1 gene. In addition to multi-organ dysfunction, such as cardiomyopathy, retinal degeneration and renal dysfunction, the diso