Hemant Khanna, PhD

• Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome

• "Ghost on the Coast": Persistent hallucinations through the prism of cultural concepts of distress

• Oxidative Stress Resistance 1 Gene Therapy Retards Neurodegeneration in the rd1 Mutant Mouse Model of Retinopathy

• The Ocular Gene Delivery Landscape

• Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone

• RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)

• Molecular Assessment of Epiretinal Membrane: Activated Microglia, Oxidative Stress and Inflammation

• Epidemiology and costs of severe acute respiratory infection and influenza hospitalizations in adults with diabetes in India

• Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina

• Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

• Ocular Ciliopathies: Genetic and Mechanistic Insights into Developing Therapies

• More Than Meets the Eye: Current Understanding of RPGR Function

• Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

• Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis

• Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

• Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E

• Stem cells with a view: a look inside a retinal ciliopathy

• Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

• Advances in Gene Therapy for Diseases of the Eye

• The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo

• Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR

• Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina

• Photoreceptor Sensory Cilium: Traversing the Ciliary Gate

• Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice

• Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy

• Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition

• Cilia in photoreceptors

• Biobased lactams as novel arthropod repellents

• Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse

• Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye

• Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration

• Retina ciliopathies: from genes to mechanisms and treatment

• Ciliary signaling cascades in photoreceptors

• Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases

• Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15

• OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

• Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

• Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

• Expression and functional roles of caspase-5 in inflammatory responses of human retinal pigment epithelial cells

• Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants

• Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies

• TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

• XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina

• Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

• Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney

• The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

• Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas

• Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

• RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa

• CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation