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List of works by Hemant Khanna

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

scientific article

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

scientific article

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

scientific article

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies ⬇️

scientific article published on June 17, 2011

Advances in Gene Therapy for Diseases of the Eye.

scientific article published on 13 May 2016

Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma

scientific article published on 15 June 2017

Biobased lactams as novel arthropod repellents

scientific article published in December 2014

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

scientific article

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

scientific article

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

scientific article

Catalytic properties of the PepQ prolidase from Escherichia coli

scientific article

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

scientific article

Cilia in photoreceptors

scientific article published on 14 February 2015

Ciliary signaling cascades in photoreceptors

scientific article published on 17 August 2012

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

scientific article published on 07 May 2012

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

scientific article published on 02 March 2016

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

scientific article

Expression and Functional Roles of Caspase-5 in Inflammatory Responses of Human Retinal Pigment Epithelial Cells ⬇️

scientific article published on November 7, 2011

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

scientific journal article

FGF19 exhibits neuroprotective effects on adult mammalian photoreceptors in vitro

scientific article published in April 2008

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants ⬇️

scientific article published on June 27, 2011

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

scientific article published on 5 July 2017

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

scientific article published on 23 January 2012

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

scientific article published on January 2010

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

scholarly article

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

scientific article

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

scientific article

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

scientific article

Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor

scientific article (publication date: 15 February 2003)

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 24 January 2016

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

scientific article

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

scientific article

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

scientific article

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

scientific article published on April 27, 2012

Photoreceptor Sensory Cilium: Traversing the Ciliary Gate

scientific article published in 2015

Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors

scientific article published on 9 June 2004

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

scientific article published in October 2016

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa

scientific article

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

scientific article

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

scientific article

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

scientific article

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies

scientific article

Retinoic acid regulates the expression of photoreceptor transcription factor NRL

scientific article

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

scientific article published on 21 October 2016

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

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

scientific article

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

scientific article published on June 2012

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

scientific article published on 03 March 2016

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

scientific article

The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein

scientific article

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

scientific article

Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL.

scholarly article

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

scientific article published on 25 October 2016

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

scientific article published on 01 January 2019

Widespread expression of the Supv3L1 mitochondrial RNA helicase in the mouse

scientific article

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

scientific article

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