List of works - Sheikh Riazuddin

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

scientific article

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

scientific article published on 19 December 2012

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

scientific article published on 18 September 2017

A new locus for autosomal recessive congenital cataract identified in a Pakistani family

scientific article

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

scientific article

A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12.

scientific article

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

scientific article published on 04 August 2016

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing

scientific article

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

scientific article published on 22 September 2011

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

scientific article

An overview of HCV molecular biology, replication and immune responses ⬇️

scientific article published on April 11, 2011

Anti-hepatitis C virus activity and synergistic effect of Nymphaea alba extracts and bioactive constituents in liver infected cells

scholarly article by Sidra Rehman et al published August 2018 in Microbial Pathogenesis

Antiviral activity of Acacia nilotica against Hepatitis C Virus in liver infected cells ⬇️

scientific article published on May 12, 2011

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

scientific article

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

scientific article

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

scientific article

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

scientific article published on 19 January 2016

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

scientific article published on 26 September 2019

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

scientific article published on 23 December 2017

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

scientific article

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

scientific article

Clinical manifestations of DFNB29 deafness

scientific article published in January 2002

Comparison of Anti-HCV Activity of Multiple Punica granatum Extracts and Fractions in Virus-infected Human Hepatocytes

scientific article published on 01 January 2018

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

scientific article published on 9 March 2017

Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

scientific article published on 30 January 2017

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

scientific article published on 12 February 2005

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

scientific article published on January 2010

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

scientific article

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

scientific article (publication date: March 2002)

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

scientific article

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

scientific journal article

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

scientific article

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

scientific article published on 22 August 2008

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss

scientific article

Genetic modifiers of hereditary hearing loss

scientific article published in January 2002

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

article

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

scientific article

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

Huh-7 cell line as an alternative cultural model for the production of human like erythropoietin (EPO).

scientific article

In-vitro antiviral activity of Solanum nigrum against Hepatitis C Virus

scientific article

In-vitro model systems to study Hepatitis C Virus

scientific article

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

scientific article published on 23 March 2018

Inhibition of HCV 3a core gene through Silymarin and its fractions.

scientific article

Inhibition of full length hepatitis C virus particles of 1a genotype through small interference RNA

scientific article

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

scientific article published on 9 September 2015

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

scientific article published on 10 June 2016

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

scientific article

Lysosomotropic agents as HCV entry inhibitors.

scientific article

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

scientific article published on 24 September 2015

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

scientific article

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness

scientific article

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

scientific article

Molecular and clinical studies of X-linked deafness among Pakistani families

scientific article

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

scientific article published on 30 July 2009

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

scientific article

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

scientific article published on 24 September 2020

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

scientific article

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

scientific article published on 29 August 2018

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

scientific article published in April 2008

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

scientific article

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

scientific article

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

scientific article published on 28 March 2018

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

scientific article

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

scientific article published on January 2014

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

scientific article

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

scientific article published on 24 July 2002

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

scientific article

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa ⬇️

scientific article published on May 25, 2011

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

scientific article

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

scientific article published on 10 June 2011

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

scientific article

Mutations of MYO6 are associated with recessive deafness, DFNB37

scientific article

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

scientific article

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

scientific article published on 03 February 2006

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

scientific article

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

scientific article

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

scientific article

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

scientific article

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy

scientific article published on 19 July 2013

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 ⬇️

scientific article published on October 21, 2003

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases

scientific article published on 16 July 2016

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population ⬇️

scientific article published on December 13, 2012

Post-transcriptional inhibition of hepatitis C virus replication through small interference RNA.

scientific article

RNAi as a new therapeutic strategy against HCV.

scientific article published on January 2010

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

scientific article published on 13 March 2009

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

scientific article

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

scientific article

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

scientific article published on 10 August 2007

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15

scientific article published on 01 June 2006

Therapeutic potential of Taraxacum officinale against HCV NS5B polymerase: In-vitro and In silico study

scientific article published on 08 August 2016

Tricellulin is a tight-junction protein necessary for hearing

scientific article

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome

scientific article

Variants of <scp><i>LRP2</i></scp>, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

scientific article published in 2023

List of works by Sheikh Riazuddin

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

A new locus for autosomal recessive congenital cataract identified in a Pakistani family

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12.

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

An overview of HCV molecular biology, replication and immune responses ⬇️

Anti-hepatitis C virus activity and synergistic effect of Nymphaea alba extracts and bioactive constituents in liver infected cells

Antiviral activity of Acacia nilotica against Hepatitis C Virus in liver infected cells ⬇️

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

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

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Clinical manifestations of DFNB29 deafness

Comparison of Anti-HCV Activity of Multiple Punica granatum Extracts and Fractions in Virus-infected Human Hepatocytes

Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

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

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

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

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

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss

Genetic modifiers of hereditary hearing loss

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Huh-7 cell line as an alternative cultural model for the production of human like erythropoietin (EPO).

In-vitro antiviral activity of Solanum nigrum against Hepatitis C Virus

In-vitro model systems to study Hepatitis C Virus

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

Inhibition of HCV 3a core gene through Silymarin and its fractions.

Inhibition of full length hepatitis C virus particles of 1a genotype through small interference RNA

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

Lysosomotropic agents as HCV entry inhibitors.

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

Molecular and clinical studies of X-linked deafness among Pakistani families

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa ⬇️

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

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

Mutations of MYO6 are associated with recessive deafness, DFNB37

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

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

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

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy