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CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function
Sethna, Saumil, Scott, Patrick A., Giese, Arnaud P. J., Duncan, Todd, Jian, Xiaoying, Riazuddin, Sheikh, Randazzo, Paul A., Redmond, T. Michael, Bernstein, Steven L., Riazuddin, Saima, Ahmed, Zubair M.
Published in Nature communications (23.06.2021)
Published in Nature communications (23.06.2021)
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Journal Article
Sarcococca saligna fabricated gold nanoparticles alleviated in vitro oxidative stress and inflammation in human adipose‐derived stem cells
Naseer, Nadia, Mustafa, Muhammad Munam, Latief, Noreen, Fazal, Numan, Tariq, Muhammad, Afreen, Afshan, Yaqub, Faiza, Riazuddin, Sheikh
Published in Journal of biomedical materials research. Part B, Applied biomaterials (01.12.2023)
Published in Journal of biomedical materials research. Part B, Applied biomaterials (01.12.2023)
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Journal Article
Development of NSAID‐loaded nano‐composite scaffolds for skin tissue engineering applications
Zehra, Mubashra, Mehmood, Azra, Yar, Muhammad, Shahzadi, Lubna, Riazuddin, Sheikh
Published in Journal of biomedical materials research. Part B, Applied biomaterials (01.11.2020)
Published in Journal of biomedical materials research. Part B, Applied biomaterials (01.11.2020)
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Journal Article
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
Faridi, Rabia, Rea, Alessandro, Fenollar-Ferrer, Cristina, O’Keefe, Raymond T., Gu, Shoujun, Munir, Zunaira, Khan, Asma Ali, Riazuddin, Sheikh, Hoa, Michael, Naz, Sadaf, Newman, William G., Friedman, Thomas B.
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Journal Article
An overview of HCV molecular biology, replication and immune responses
Ashfaq, Usman A, Javed, Tariq, Rehman, Sidra, Nawaz, Zafar, Riazuddin, Sheikh
Published in Virology journal (11.04.2011)
Published in Virology journal (11.04.2011)
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Journal Article
Glycyrrhizin as antiviral agent against Hepatitis C Virus
Ashfaq, Usman A, Masoud, Muhammad S, Nawaz, Zafar, Riazuddin, Sheikh
Published in Journal of translational medicine (18.07.2011)
Published in Journal of translational medicine (18.07.2011)
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Journal Article
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome
Faridi, Rabia, Stratton, Pamela, Salmeri, Noemi, Morell, Robert J., Khan, Asma Ali, Usmani, Muhammad A., Newman, William G., Riazuddin, Sheikh, Friedman, Thomas B.
Published in Clinical genetics (01.05.2024)
Published in Clinical genetics (01.05.2024)
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Journal Article
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population
Bashir, Zil-e-Huma, Latief, Noreen, Belyantseva, Inna A, Iqbal, Farheena, Amer Riazuddin, Sheikh, Khan, Shaheen N, Friedman, Thomas B, Riazuddin, Sheikh, Riazuddin, Saima
Published in Journal of human genetics (01.02.2013)
Published in Journal of human genetics (01.02.2013)
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Journal Article
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Richard, Elodie M., Santos‐Cortez, Regie Lyn P., Faridi, Rabia, Rehman, Atteeq U., Lee, Kwanghyuk, Shahzad, Mohsin, Acharya, Anushree, Khan, Asma A., Imtiaz, Ayesha, Chakchouk, Imen, Takla, Christina, Abbe, Izoduwa, Rafeeq, Maria, Liaqat, Khurram, Chaudhry, Taimur, Bamshad, Michael J., Nickerson, Deborah A., Schrauwen, Isabelle, Khan, Shaheen N., Morell, Robert J., Zafar, Saba, Ansar, Muhammad, Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Sheikh, Friedman, Thomas B., Leal, Suzanne M., Riazuddin, Saima
Published in Human mutation (01.01.2019)
Published in Human mutation (01.01.2019)
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Journal Article
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
Ghaffar, Amama, Rasheed, Faiza, Rashid, Muhammad, van Bokhoven, Hans, Ahmed, Zubair M., Riazuddin, Sheikh, Riazuddin, Saima
Published in European journal of human genetics : EJHG (01.02.2022)
Published in European journal of human genetics : EJHG (01.02.2022)
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Journal Article
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse
Yousaf, Rizwan, Gu, Chunfang, Ahmed, Zubair M., Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Shears, Stephen B., Riazuddin, Saima
Published in PLoS genetics (28.03.2018)
Published in PLoS genetics (28.03.2018)
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Journal Article
Mesenchymal stem cells and Interleukin-6 attenuate liver fibrosis in mice
Nasir, Ghazanfar Ali, Mohsin, Sadia, Khan, Mohsin, Shams, Sulaiman, Ali, Gibran, Khan, Shaheen N, Riazuddin, Sheikh
Published in Journal of translational medicine (26.03.2013)
Published in Journal of translational medicine (26.03.2013)
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Journal Article
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome
Faridi, Rabia, Tona, Risa, Brofferio, Alessandra, Hoa, Michael, Olszewski, Rafal, Schrauwen, Isabelle, Assir, Muhammad Z.K., Bandesha, Akhtar A., Khan, Asma A., Rehman, Atteeq U., Brewer, Carmen, Ahmed, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Boyden, Steven E., Friedman, Thomas B.
Published in Human mutation (01.02.2019)
Published in Human mutation (01.02.2019)
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Journal Article
A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)
Andres, Erin M., Hafeez, Huma, Yousaf, Adnan, Riazuddin, Sheikh, Rice, Mabel L., Basra, Muhammad Asim Raza, Raza, Muhammad Hashim
Published in European journal of human genetics : EJHG (01.08.2019)
Published in European journal of human genetics : EJHG (01.08.2019)
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Journal Article
Modifier variant of METTL13 suppresses human GAB1–associated profound deafness
Yousaf, Rizwan, Ahmed, Zubair M., Giese, Arnaud P.J., Morell, Robert J., Lagziel, Ayala, Dabdoub, Alain, Wilcox, Edward R., Riazuddin, Sheikh, Friedman, Thomas B., Riazuddin, Saima
Published in The Journal of clinical investigation (01.04.2018)
Published in The Journal of clinical investigation (01.04.2018)
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Journal Article
Screening, diagnosis and genetic study of breast cancer patients in Pakistan
Majeed, Ayesha Isani, Ullah, Asmat, Jadoon, Muniba, Ahmad, Wasim, Riazuddin, Sheikh
Published in Pakistan journal of medical sciences (01.01.2020)
Published in Pakistan journal of medical sciences (01.01.2020)
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Journal Article
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
Chen, Jianjun, Ma, Zhiwei, Jiao, Xiaodong, Fariss, Robert, Kantorow, Wanda Lee, Kantorow, Marc, Pras, Eran, Frydman, Moshe, Pras, Elon, Riazuddin, Sheikh, Riazuddin, S. Amer, Hejtmancik, J. Fielding
Published in American journal of human genetics (10.06.2011)
Published in American journal of human genetics (10.06.2011)
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Journal Article