Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Shaheen N, Khan"'
Autor:
Shahid Y. Khan, Shivakumar Vasanth, Firoz Kabir, John D. Gottsch, Arif O. Khan, Raghothama Chaerkady, Mei-Chong W. Lee, Carmen C. Leitch, Zhiwei Ma, Julie Laux, Rafael Villasmil, Shaheen N. Khan, Sheikh Riazuddin, Javed Akram, Robert N. Cole, C. Conover Talbot, Nader Pourmand, Norann A. Zaghloul, J. Fielding Hejtmancik, S. Amer Riazuddin
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-15 (2016)
Peter's Anomaly is a developmental disorder of the eye and has been linked to mutations in a range of genes, including the transcription factor FOXE3. Here the authors use next-generation RNA sequencing and mass spectrometry to identify an autophagy-
Externí odkaz:
https://doaj.org/article/1749f175df8b441e834b71a3a43eae2b
Autor:
Rizwan Yousaf, Chunfang Gu, Zubair M Ahmed, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin, Stephen B Shears, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 14, Iss 3, p e1007297 (2018)
Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on chromosome 5q13.2-q23.2. Exome enrichment followed by massive parallel sequencing
Externí odkaz:
https://doaj.org/article/82cbaa41f0b04304a24ab3821e971473
Autor:
Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0173719 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0167562.].
Externí odkaz:
https://doaj.org/article/d8d95d370b8b4cb59899a0efcdf14b9d
Autor:
Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0167562 (2016)
The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree.All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history,
Externí odkaz:
https://doaj.org/article/c9f4adf0b7e7473aba3081364ed4681f
Autor:
Bushra Irum, Shahid Y Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0162620 (2016)
To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family.All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenot
Externí odkaz:
https://doaj.org/article/22aedd3823ee4215ad62eaf53586fee8
Autor:
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing lo
Externí odkaz:
https://doaj.org/article/85a622f2d8104bbe96b80ab1bc1bbc10
Publikováno v:
Stem Cells International, Vol 2015 (2015)
Skin autografting is the most viable and aesthetic technique for treatment of extensive burns; however, this practice has potential limitations. Harvesting cells from neonatal sources (such as placental tissue) is a simple, inexpensive, and noninvasi
Externí odkaz:
https://doaj.org/article/96dd9eef35554bcb89bef7cae43579a9
Publikováno v:
Stem Cells International, Vol 2015 (2015)
Stem cells have opened a new avenue to treat liver fibrosis. We investigated in vitro and in vivo the effect of cytokine (HGF and FGF4) pretreated MSCs in reduction of CCl4 liver injury. Mouse MSCs were pretreated with cytokines to improve their abil
Externí odkaz:
https://doaj.org/article/b0bd990e523b40e69925e460e16231f4
Autor:
Sana Javaid Awan, Sheikh Riazuddin, Mahmood S Choudhery, Shaheen N. Khan, R. Mahmood, Azra Mehmood
Publikováno v:
Cell Biology International. 43:147-157
Conventional approaches can repair minor skin injuries; however, severe burn injuries require innovative approaches for efficient and better wound repair. Recent studies indicate that stem cell-based regenerative therapies can restore severe damaged
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a588c5b17bd3d9e7313ec07f11ad1a7d
https://doi.org/10.1002/cbin.11072
https://doi.org/10.1002/cbin.11072
Autor:
Thomas J Jaworek, Elodie M Richard, Anna A Ivanova, Arnaud P J Giese, Daniel I Choo, Shaheen N Khan, Sheikh Riazuddin, Richard A Kahn, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 9, Iss 9, p e1003774 (2013)
Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. The affected indiv
Externí odkaz:
https://doaj.org/article/a5d1d4f6ff8649c0a7c30c08573932df