Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Saima, Riazuddin"'
Autor:
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A. Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A. Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-13 (2024)
Abstract Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles in cell proliferation, myelination, neurite formation, axon specification, outgrowth, dendrite, and synapse formation. We r
Externí odkaz:
https://doaj.org/article/50e5cd7c61094b2f8a582125939521fc
Autor:
Ayesha Yousaf, Sairah Yousaf, Asra S. Shabbir, Rafia Yousaf, Saima Riazuddin, Rehan S. Shaikh, Regie Lyn P. Santos‐Cortez, Zubair M. Ahmed
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
Abstract Background Otitis media (OM) is the most frequent and complex middle ear condition with multifactorial etiology including genetic predisposition. OM depicts a variable clinical spectrum, leading to speech, developmental delay, and hearing lo
Externí odkaz:
https://doaj.org/article/1e03f75a035c448caef401d07f158078
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:
Muhammad Rashid, Sairah Yousaf, Shakeel A. Sheikh, Zureesha Sajid, Asra S. Shabbir, Tasleem Kausar, Nabeela Tariq, Muhammad Usman, Rehan S. Shaikh, Muhammad Ali, Shazia A. Bukhari, Ali M. Waryah, Muhammad Qasim, Saima Riazuddin, Zubair M. Ahmed
Publikováno v:
Molecular Vision, Vol 25, Iss 1, Pp 144-154 (2019)
Purpose: Primary congenital glaucoma (PCG) is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic causes of PCG segregating in 36 large consanguineous Pakistani families. Methods: Ophthalmic exa
Externí odkaz:
https://doaj.org/article/b5f6a5b6d40842db87f7126c07225a1f
Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Otitis media (OM) is an infective and inflammatory disorder known to be a major cause of hearing impairment across all age groups. Both acute and chronic OM result in substantial healthcare utilization related to antibiotic prescription and surgical
Externí odkaz:
https://doaj.org/article/c75af85a66314885a0cf4bccfa90ed14
Autor:
Abdullah Y. Hassan, Sairah Yousaf, Moran R. Levin, Osamah J. Saeedi, Saima Riazuddin, Janet L. Alexander, Zubair M. Ahmed
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 1, p 240 (2021)
Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bila
Externí odkaz:
https://doaj.org/article/debb70833388444d8fdea9785a1889e9
Autor:
Priya Jarwar, Shakeel Ahmed Sheikh, Yar Muhammad Waryah, Ikram Uddin Ujjan, Saima Riazuddin, Ali Muhammad Waryah, Zubair M. Ahmed
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 19, p 10655 (2021)
Hereditary congenital cataract (HCC) is clinically and genetically heterogeneous. We investigated HCC that segregates in three inbred families (LUCC03, LUCC16, and LUCC24). Ophthalmological examinations revealed cataracts with variability related to
Externí odkaz:
https://doaj.org/article/92b5e37b37244172a55fe6ca31bcdcd7
Autor:
Arnaud P. J. Giese, Yi-Quan Tang, Ghanshyam P. Sinha, Michael R. Bowl, Adam C. Goldring, Andrew Parker, Mary J. Freeman, Steve D. M. Brown, Saima Riazuddin, Robert Fettiplace, William R. Schafer, Gregory I. Frolenkov, Zubair M. Ahmed
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
Inner ear hair cells detect sound through deflection of stereocilia that harbor mechanically-gated channels. Here the authors show that protein responsible for Usher syndrome, CIB2, interacts with these channels and is essential for their function an
Externí odkaz:
https://doaj.org/article/65c3629626804bdea9661937eb27fcb2
Autor:
Arnaud P. J. Giese, Wei-Hsiang Weng, Katie S Kindt, Vanessa H. H. Chang, Jonathan S Montgomery, Evan M. Ratzan, Alisha J. Beirl, Roberto Aponte Rivera, Jeffrey M. Lotthammer, Sanket Walujkar, Mark P. Foster, Omid A. Zobeiri, Jeffrey R. Holt, Saima Riazuddin, Kathleen E. Cullen, Marcos Sotomayor, Zubair M Ahmed
Publikováno v:
bioRxiv
Calcium and integrin-binding protein 2 (CIB2) and CIB3 bind to transmembrane channel-like 1 (TMC1) and TMC2, the pore-forming subunits of the inner-ear mechano-electrical transduction (MET) apparatus. Whether these interactions are functionally relev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a43260b3faad82ecf004cd3b46a544
https://europepmc.org/articles/PMC10312449/
https://europepmc.org/articles/PMC10312449/
