Saima Riazuddin
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View article: Pluripotent Stem Cell-Derived Corneal Endothelial Cells Form a Functional Corneal Endothelium in Canines
Pluripotent Stem Cell-Derived Corneal Endothelial Cells Form a Functional Corneal Endothelium in Canines Open
Our data confirm the efficacy of cryopreserved pluripotent stem cell-derived CECs as a therapeutic option to regenerate a functional CE in canines with corneal endothelial dysfunction.
View article: MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity
MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity Open
Methionine sulfoxide reductases (MSRs) are enzymes responsible for catalyzing the reduction of methionine sulfoxides. We previously demonstrated that variants in human MSRB3, an MSR family member, are associated with profound autosomal rec…
View article: Methionine sulfoxide reductase B3 antioxidant activity is indispensable for mouse inner ear cuticular plate structure and hair bundle integrity
Methionine sulfoxide reductase B3 antioxidant activity is indispensable for mouse inner ear cuticular plate structure and hair bundle integrity Open
Methionine sulfoxide reductases (MSR) are enzymes responsible for catalyzing the reduction of methionine-sulfoxides. We previously demonstrated that variants in human MSRB3, a member of the MSR family, are associated with profound autosoma…
View article: CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture
CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture Open
Humans and mice with mutations in genes encoding CIB2 and whirlin (WHRN) are deaf. We previously reported that CIB2 binds to WHRN and is essential for stereocilia staircase architecture of cochlear hair cells. Here, we refine the interacti…
View article: A Novel SLPI Splice Variant Confers Susceptibility to Otitis Media in Humans
A Novel SLPI Splice Variant Confers Susceptibility to Otitis Media in Humans Open
Otitis media is the most frequently diagnosed disease and a leading cause of hearing loss in young children. However, genetic contributors to susceptibility and pathogen–host–environment interactions in otitis media remain to be identified…
View article: Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels
Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels Open
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. These interactions have been proposed …
View article: Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels
Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels Open
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. These interactions have been proposed …
View article: CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern
CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern Open
Summary Variations in genes coding for calcium and integrin binding protein 2 (CIB2) and whirlin cause deafness both in humans and mice. We previously reported that CIB2 binds to whirlin, and is essential for normal staircase architecture …
View article: Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly Open
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…
View article: A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred Open
Intellectual disability (ID), which affects around 2% to 3% of the population, accounts for 0.63% of the overall prevalence of neurodevelopmental disorders (NDD). ID is characterized by limitations in a person’s intellectual and adaptive f…
View article: Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels
Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels Open
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 functio…
View article: Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels
Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels Open
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. These interactions have been proposed …
View article: Author Response: Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels
Author Response: Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels Open
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 functio…
View article: Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells
Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells Open
SUMMARY Calcium and Integrin-Binding Protein 2 (CIB2) is an essential subunit of the mechano-electrical transduction (MET) complex in mammalian auditory hair cells. CIB2 binds to pore-forming subunits of the MET channel, TMC1/2 and is requ…
View article: Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels
Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels Open
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. These interactions have been proposed …
View article: Syntaxin 4 is essential for hearing in human and zebrafish
Syntaxin 4 is essential for hearing in human and zebrafish Open
Congenital hearing impairment (HI) is a genetically highly heterogeneous disorder in which prompt recognition and intervention are crucial to optimize outcomes. In this study, we used exome sequencing to investigate a large consanguineous …
View article: Genetic association analysis of 269 rare diseases reveals novel aetiologies
Genetic association analysis of 269 rare diseases reveals novel aetiologies Open
The genetic aetiologies of more than half of rare diseases remain unknown 1 . Standardised genome sequencing (GS) and phenotyping of large patient cohorts provides an opportunity for discovering the unknown aetiologies 2 , but this depends…
View article: Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families
Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families Open
Cone photoreceptor dysfunction represents a clinically heterogenous group of disorders characterized by nystagmus, photophobia, reduced central or color vision, and macular dystrophy. Here, we described the molecular findings and clinical …
View article: Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts
Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts Open
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 acui…
View article: Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract
Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract Open
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 …