Shahid Khan

Research Associate

20052018
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Research Output 2005 2018

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Article
2018

Comparative transcriptome analysis of hESC- and iPSC-derived corneal endothelial cells

Ali, M., Khan, S., Kabir, F., Gottsch, J. D. & Riazuddin, S. A., Nov 1 2018, In : Experimental Eye Research. 176, p. 252-257 6 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Gene Expression Profiling
Endothelial Cells
Transcriptome
Blood Cells

Data descriptor: Whole genome sequencing data for two individuals of Pakistani descent

Khan, S., Kabir, F., M’Hamdi, O., Jiao, X., Naeem, M. A., Khan, S. N., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Sep 11 2018, In : Scientific data. 5, 180174.

Research output: Contribution to journalArticle

Descent
Sequencing
Descriptors
Genome
Genes

Generation and proteome profiling of PBMC-originated, iPSC-derived corneal endothelial cells

Ali, M., Khan, S., Vasanth, S., Ahmed, M. R., Chen, R., Na, C-H., Thomson, J. J., Qiu, C., Gottsch, J. D. & Riazuddin, S. A., May 1 2018, In : Investigative Ophthalmology and Visual Science. 59, 6, p. 2437-2444 8 p.

Research output: Contribution to journalArticle

Induced Pluripotent Stem Cells
Proteome
Blood Cells
Endothelial Cells
Corneal Endothelium

Identification of novel transcripts and peptides in developing murine lens

Khan, S., Ali, M., Kabir, F., Chen, R., Na, C-H., Lee, M. C. W., Pourmand, N., Hackett, S. F. & Riazuddin, S. A., Dec 1 2018, In : Scientific Reports. 8, 1, 11162.

Research output: Contribution to journalArticle

Lenses
RNA Splice Sites
Peptides
Proteome
Transcriptome

Proteome profiling of developing murine lens through mass spectrometry

Khan, S., Ali, M., Kabir, F., Renuse, S., Na, C-H., Conover Talbot, C., Hackett, S. F. & Riazuddin, S. A., Jan 1 2018, In : Investigative Ophthalmology and Visual Science. 59, 1, p. 100-107 8 p.

Research output: Contribution to journalArticle

Proteome
Lenses
Mass Spectrometry
Proteins
Crystalline Lens
2016

Deletion at the GCNT2 locus causes autosomal recessive congenital cataracts

Irum, B., Khan, S., Ali, M., Daud, M., Kabir, F., Rauf, B., Fatima, F., Iqbal, H., Khan, A. O., Obaisi, S. A., Naeem, M. A., Nasir, I. A., Khan, S. N., Husnain, T., Riazuddin, S., Akram, J., Eghrari, A. & Riazuddin, S. A., Dec 1 2016, In : PLoS One. 11, 12, e0167562.

Research output: Contribution to journalArticle

cataract
Transferases
transferases
Cataract
Chromosomes

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Khan, S., Vasanth, S., Kabir, F., Gottsch, J. D., Khan, A. O., Chaerkady, R., Lee, M. C. W., Leitch, C. C., Ma, Z., Laux, J., Villasmil, R., Khan, S. N., Riazuddin, S., Akram, J., Cole, R. N., Conover Talbot, C., Pourmand, N., Zaghloul, N. A., Fielding Hejtmancik, J. & Riazuddin, S. A., Apr 6 2016, In : Nature Communications. 7, 10953.

Research output: Contribution to journalArticle

Autophagy
Lenses
lenses
anomalies
proteins

Mutation in LIM2 is responsible for autosomal recessive congenital cataracts

Irum, B., Khan, S., Ali, M., Kaul, H., Kabir, F., Rauf, B., Fatima, F., Nadeem, R., Khan, A. O., Al Obaisi, S., Naeem, M. A., Nasir, I. A., Khan, S. N., Husnain, T., Riazuddin, S., Akram, J., Eghrari, A. & Riazuddin, S. A., Nov 1 2016, In : PLoS One. 11, 11, e0162620.

Research output: Contribution to journalArticle

cataract
Lens
membrane proteins
Cataract
Lenses

Non-coding RNA profiling of the developing murine lens

Khan, S., Hackett, S. F. & Riazuddin, S. A., Apr 1 2016, In : Experimental Eye Research. 145, p. 347-351 5 p.

Research output: Contribution to journalArticle

Lenses
Untranslated RNA
Transcriptome
Messenger RNA
Long Noncoding RNA
2015

Missense mutations in CRYAB are liable for recessive congenital cataracts

Jiaox, X., Khan, S., Irum, B., Khan, A. O., Wang, Q., Kabir, F., Khan, A. A., Husnain, T., Akram, J., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Sep 24 2015, In : PLoS One. 10, 9, e0137973.

Research output: Contribution to journalArticle

missense mutation
cataract
Missense Mutation
Lens
Cataract

Phenotypic variability associated with the D226N allele of IMPDH1

Ali, S., Khan, S., Naeem, M. A., Khan, S. N., Husnain, T., Riazuddin, S., Ayyagari, R., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Feb 1 2015, In : Ophthalmology. 122, 2, p. 429-431 3 p.

Research output: Contribution to journalArticle

IMP Dehydrogenase
Electroretinography
Consanguinity
Photic Stimulation
Genetic Linkage

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous pakistani families

Khan, S., Ali, S., Naeem, M. A., Khan, S. N., Husnain, T., Butt, N. H., Qazi, Z. A., Akram, J., Riazuddin, S., Ayyagari, R., Hejtmancik, J. F. & Riazuddin, S. A., Aug 18 2015, In : Molecular Vision. 21, p. 871-882 12 p.

Research output: Contribution to journalArticle

RNA Splice Sites
Retinitis Pigmentosa
Exome
Mutation
Genome

Transcriptome profiling of developing murine lens through RNA sequencing

Khan, S., Hackett, S. F., Lee, M. C. W., Pourmand, N., Conover Talbot, C. & Riazuddin, S. A., 2015, In : Investigative Ophthalmology and Visual Science. 56, 8, p. 4919-4926 8 p.

Research output: Contribution to journalArticle

RNA Sequence Analysis
Gene Expression Profiling
Lenses
Transcriptome
MicroRNAs
2014

Single-cell analyses of transcriptional heterogeneity during drug tolerance transition in cancer cells by RNA sequencing

Lee, M. C. W., Lopez-Diaz, F. J., Khan, S., Tariq, M. A., Dayn, Y., Vaske, C. J., Radenbaugh, A. J., Kim, H. J., Emerson, B. M. & Pourm, N., Nov 4 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 44, p. E4726-E4735

Research output: Contribution to journalArticle

Open Access
Single-Cell Analysis
Drug Tolerance
RNA Sequence Analysis
Neoplasms
RNA
2013

Distinctive microRNA expression signatures in proton-irradiated mice

Khan, S., Tariq, M. A., Perrott, J. P., Brumbaugh, C. D., Kim, H. J., Shabbir, M. I., Ramesh, G. T. & Pourmand, N., Oct 1 2013, In : Molecular and Cellular Biochemistry. 382, 1-2, p. 225-235 11 p.

Research output: Contribution to journalArticle

MicroRNAs
Protons
Radiation
RNA
Tissue
2010

DFNB79: Reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

Khan, S., Riazuddin, S., Shahzad, M., Ahmed, N., Zafar, A. U., Rehman, A. U., Morell, R. J., Griffith, A. J., Ahmed, Z. M., Riazuddin, S. & Friedman, T. B., Jan 1 2010, In : European Journal of Human Genetics. 18, 1, p. 125-129 5 p.

Research output: Contribution to journalArticle

Open Access
Deafness
Chromosomes
Sensorineural Hearing Loss
Human Chromosomes
Haplotypes

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

Rehman, A. U., Morell, R. J., Belyantseva, I. A., Khan, S., Boger, E. T., Shahzad, M., Ahmed, Z. M., Riazuddin, S., Khan, S. N., Riazuddin, S. & Friedman, T. B., Feb 19 2010, In : American journal of human genetics. 86, 3, p. 378-388 11 p.

Research output: Contribution to journalArticle

Open Access
Genes
Libraries
Stereocilia
Frameshift Mutation
Nonsense Codon
2009

DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2-q15

Waryah, A. M., Rehman, A., Ahmed, Z. M., Bashir, Z. H., Khan, S., Zafar, A. U., Riazuddin, S., Friedman, T. B. & Riazuddin, S., Sep 1 2009, In : Clinical Genetics. 76, 3, p. 270-275 6 p.

Research output: Contribution to journalArticle

Hearing Loss
Chromosomes
Synteny
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 10

Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome

Riazuddin, S., Anwar, S., Fischer, M., Ahmed, Z. M., Khan, S., Janssen, A. G. H., Zafar, A. U., Scholl, U., Husnain, T., Belyantseva, I. A., Friedman, P. L., Riazuddin, S., Friedman, T. B. & Fahlke, C., Aug 14 2009, In : American journal of human genetics. 85, 2, p. 273-280 8 p.

Research output: Contribution to journalArticle

Open Access
Bartter Syndrome
Mutation
Chloride Channels
Deafness
Kidney

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

Riazuddin, S., Anwar, S., Riazuddin, S., Ahmed, Z. M., Tasneem, S., Ateeq-Ul-Jaleel, Khan, S., Griffith, A. J. & Friedman, T. B., May 1 2009, In : Journal of Human Genetics. 54, 5, p. 266-270 5 p.

Research output: Contribution to journalArticle

Open Access
Deafness
Mutation
Sensorineural Hearing Loss
Goiter
Inner Ear
2008

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Ahmed, Z. M., Masmoudi, S., Kalay, E., Belyantseva, I. A., Mosrati, M. A., Collin, R. W. J., Riazuddin, S., Hmani-Aifa, M., Venselaar, H., Kawar, M. N., Tlili, A., van der Zwaag, B., Khan, S., Ayadi, L., Riazuddin, S. A., Morell, R. J., Griffith, A. J., Charfedine, I., Ҫaylan, R., Oostrik, J. & 6 others, Karaguzel, A., Ghorbel, A., Riazuddin, S., Friedman, T. B., Ayadi, H. & Kremer, H., 2008, In : Nature Genetics. 40, 11, p. 1335-1340 6 p.

Research output: Contribution to journalArticle

Reading Frames
Gene Fusion
Mutation
Genes
Proteins
2007

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3

Khan, S., Riazuddin, S., Tariq, M., Anwar, S., Shabbir, M. I., Riazuddin, S. A., Khan, S. N., Husnain, T., Ahmed, Z. M., Friedman, T. B. & Riazuddin, S., Jan 2007, In : Human Genetics. 120, 6, p. 789-793 5 p.

Research output: Contribution to journalArticle

Chromosomes
Lod Score
Sensorineural Hearing Loss
Deafness
Hearing Loss

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

Khan, S., Ahmed, Z. M., Shabbir, M. I., Kitajiri, S. I., Kalsoom, S., Tasneem, S., Shayiq, S., Ramesh, A., Srisailpathy, S., Khan, S. N., Smith, R. J. H., Riazuddin, S., Friedman, T. B. & Riazuddin, S., May 1 2007, In : Human mutation. 28, 5, p. 417-423 7 p.

Research output: Contribution to journalArticle

Inner Ear
Mutation
Genes
Alleles
Actin Cytoskeleton
2006

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss

Shabbir, M. I., Ahmed, Z. M., Khan, S., Riazuddin, S., Waryah, A. M., Khan, S. N., Camps, R. D., Ghosh, M., Kabra, M., Belyantseva, I. A., Friedman, T. B. & Riazuddin, S., Aug 1 2006, In : Journal of medical genetics. 43, 8, p. 634-640 7 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Inner Auditory Hair Cells
Mutation
Inner Ear
2005

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1

Ahmad, J., Khan, S. N., Khan, S., Ramzan, K., Riazuddin, S., Ahmed, Z. M., Wilcox, E. R., Friedman, T. B. & Riazuddin, S., Apr 1 2005, In : Human genetics. 116, 5, p. 407-412 6 p.

Research output: Contribution to journalArticle

Chromosomes
Pakistan
Deafness
Marriage
Population