• KOL
    • Retinitis Pigmentosa
    • John R Heckenlively
    • John R Heckenlively: Influence Statistics

      John R Heckenlively

      John R Heckenlively

      Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA | Department of Ophthalmology and Visual Sciences, ...

      Is this your profile? manage_accounts Claim your profile content_copy Copy URL code Embed Link to your profile

      John R Heckenlively:Expert Impact

      Concepts for whichJohn R Heckenlivelyhas direct influence:Retinitis pigmentosa,Retinal degeneration,Visual acuity,Stargardt disease,Antiretinal antibodies,Female genes,Human chromosome,Iris atrophy.

      John R Heckenlively:KOL impact

      Concepts related to the work of other authors for whichfor which John R Heckenlively has influence:Retinitis pigmentosa,Retinal degeneration,Gene therapy,Visual acuity,Photoreceptor cells,Leber congenital amaurosis,Mouse model.

      KOL Resume for John R Heckenlively

      Year
      2022

      Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA

      2020

      Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA

      2019

      Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.

      2018

      Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, MI, USA, View further author information

      Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA

      2017

      W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan.

      University of Michigan Department of Ophthalmology and Visual Sciences, Ann Arbor, Michigan, United States

      2016

      Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan.

      2015

      Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA.

      Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, United States

      2014

      e Department of Ophthalmology , University of Michigan , Ann Arbor , MI , USA .

      2013

      Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, 48105, Ann Arbor, MI, USA

      Kellogg Eye Center, University of Michigan, Ann Arbor, MI

      2012

      From the Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan;

      Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan

      2011

      University of Michigan, Kellogg Eye Center, Ann Arbor, MI, USA

      2010

      Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105

      2009

      University of Michigan, Kellogg Eye Center University of Michigan, Kellogg Eye Center, University Tübingen, Tübingen, Germany

      2008

      Kellogg Eye Center, University of Michigan, 48105, Ann Arbor, MI, USA

      Administrative Director, Alice R. McPherson, MD Eye Research Institute, University of Wisconsin Medical School, Madison, Wisconsin, US

      Departments of Ophthalmology and Visual Sciences (Mssrs Field, Feuerman, and Hackel and Drs Elner, Puro, Musch, Heckenlively, and Petty), Pathology (Dr Elner), Epidemiology (Dr Musch), and Endocrinology (Dr Pop-Busui), University of Michigan, Ann Arbor.

      Ann Arbor, Michigan

      2007

      Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor (Mss Downs and Branham, Drs Zacks, Yashar, Richards, Heckenlively, Sieving,and Ayyagari, and Mr Karoukis)

      W. K. Kellogg Eye Center, The University of Michigan, Ann Arbor, MI

      2006

      Departments of Ophthalmology and Visual Sciences and

      Kellogg Eye Center, 1000 Wall Street, Room 541, 48105, Ann Arbor, Michigan, USA

      Ocular Inflammatory Disease Center, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California

      2005

      The Jules Stein Eye Institute, Los Angeles, California

      Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, Michigan 48105, USA

      2004

      Department of Cell Biology, The Scripps Research Institute, La Jolla, California, USA., Department of Ophthalmology, Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California, USA.

      2003

      From the *Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California; †The Jackson Laboratory, Bar Harbor, Maine; and the ‡Department of Cell Biology, Scripps Research Institute, La Jolla, California.

      Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, USA

      2002

      Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA, U.S.A.

      2001

      Jules Stein Eye Institute/UCLA, Los Angeles, CA, USA

      2000

      Jules Stein Eye Institute, University of California School of Medicine, Los Angeles, CA 90095-7000;

      Department of Ophthalmology, Harbor-UCLA Medical Center, Torrance, California, USA

      1999

      Department of Ophthalmology, University of California, Los Angeles, California, USA

      1998

      Department of Ophthalmology, UCLA School of Medicine, Los Angeles, California, USA

      Sign-in to see all concepts, it's free!
      Sample of concepts for which John R Heckenlively is among the top experts in the world.
      Concept World rank
      dominant sectoral #1
      flecks fundus exam #1
      conerod pattern #1
      xchromosome inactivation ratios #1
      rp pprpe #1
      retina exams #1
      families transversion mutation #1
      uclarp09 adrp gene #1
      reported pedigree linkage #1
      functional analysis microcosm #1
      retina light phototoxicity #1
      patients dominant humans #1
      mfrp interaction #1
      mousel #1
      expression mfrp #1
      adrp male #1
      lop12 #1
      ipsilateral myopia #1
      unique adjunct #1
      rp2 85 #1
      variable severity contribution #1
      20 kcnv2 mutations #1
      families initial diagnosis #1
      presence retinal lesions #1
      mfrp eye #1
      retinal cell dysfunction #1
      ipd dba 2j #1
      nmf137 #1
      immunoelectron microscopy interaction #1
      adrp genetic #1
      secretory protein secretion #1
      isolated bwave amplitudes #1
      cpfl1 mutation #1
      variants snrnp200 mutations #1
      prpf31 rp11 gene #1
      lineage pedigree #1
      time retinal atrophy #1
      uwffaf classification #1
      osteopenia female members #1
      lllumina hiseq #1
      rd4 inversion #1
      csnb2 cacna1f #1
      mutation rd10 #1
      adrp cases mutations #1
      birdshot retinopathy azoor #1
      sex preference females #1
      families dominant genes #1
      1msec flashes #1
      genes recessive humans #1
      Sign-in to see all concepts, it's free!

      Prominent publications by John R Heckenlively

      KOL-Index: 19148

      PURPOSE: To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP.

      METHODS: Two hundred adRP families, drawn from a cohort of more than 400 potential families, were selected by analysis of pedigrees. Minimum criteria for inclusion in the adRP cohort included either evidence of at least three generations of affected individuals or two generations with evidence of male-to-male transmission. Probands from each ...

      Known for Mutations Genes | 200 Families | Autosomal Dominant | Pathogenic Variants | Retinitis Pigmentosa
      KOL-Index: 17051

      PURPOSE: Mutations in the membrane frizzled-related protein (MFRP) gene cause nanophthalmos in humans, and a splice site mutation causes recessive retinal degeneration in the rd6 mouse. In human and mouse genomes, the MFRP gene lies adjoining to the complement 1q tumor necrosis factor-related protein 5 (CTRP5/C1QTNF5) gene involved in causing retinal degeneration and abnormal lens zonules in human. The purpose of this study was to characterize the spatial and temporal expression of the ...

      Known for Mfrp Gene | Ctrp5 Rpe | Membrane Proteins | Inbred Balb Mice | Rd6 Mouse
      KOL-Index: 16557

      PURPOSE: We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis pigmentosa 2 (RP2) gene.

      METHODS: Families with a provisional clinical diagnosis of adRP, and a pedigree consistent with adRP but no male-to-male transmission were selected from a cohort of 258 families, and tested ...

      Known for Linked Retinitis | Mutations Rpgr | Provisional Diagnosis | Adrp Families | Autosomal Dominant
      KOL-Index: 16480

      PURPOSE: In a prior study, a S163R mutation in the complement-1q tumor necrosis factor-related protein 5 (CTRP5/ C1QTNF5) was reported to be associated with early-onset long anterior zonules (LAZ) and late-onset retinal degeneration (L-ORD). The ocular tissues involved in the phenotype are the retinal pigment epithelium (RPE) in the posterior segment and ciliary epithelium (CE) and lens in the anterior segment. The purpose of this study was to characterize the spatial and temporal ...

      Known for S163r Mutation | Ctrp5 Rpe | Ciliary Body | Secretory Protein | Inbred Balb Mice
      KOL-Index: 16202

      PURPOSE: The purpose of this study was to determine the frequency and spectrum of inosine monophosphate dehydrogenase type I (IMPDH1) mutations associated with autosomal dominant retinitis pigmentosa (RP), to determine whether mutations in IMPDH1 cause other forms of inherited retinal degeneration, and to analyze IMPDH1 mutations for alterations in enzyme activity and nucleic acid binding.

      METHODS: The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 ...

      Known for Leber Congenital Amaurosis | Mutations Impdh1 | Dominant Retinitis | Enzymatic Activity | Affinity Specificity
      KOL-Index: 13754

      PURPOSE: To report the association of antiretinal antibodies in patients with bilateral cystoid macular edema and retinitis pigmentosa.

      METHODS: In a prospective study, 30 consecutive patients with bilateral cystoid macular edema and retinitis pigmentosa were tested for antiretinal antibodies. As control subjects, 30 consecutive patients with retinitis pigmentosa who did not have cystoid macular edema and 50 normal subjects without retinitis pigmentosa or cystoid macular edema were ...

      Known for Retinitis Pigmentosa | Antiretinal Antibodies | Cystoid Macular Edema | 30 Patients | Fluorescein Angiography
      KOL-Index: 13523

      Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive retinopathies caused by several distinct genes. One locus, the RP10 form of adRP, maps to human chromosome 7q31.1 and may account for 5-10% of adRP cases among Americans and Europeans. We identified two American families with the RP10 form of adRP by linkage mapping and used these families to reduce the linkage interval to 3.45 Mb between the flanking markers D7S686 and RP-STR8. Sequence and transcript ...

      Known for Rp10 Form | Retinitis Pigmentosa | Inosine Monophosphate | 1 Gene | Autosomal Dominant
      KOL-Index: 13309

      Glutamate release from photoreceptor terminals is controlled by voltage-dependent calcium channels (VDCCs). In humans, mutations in the Cacna1f gene, encoding the alpha1F subunit of VDCCs, underlie the incomplete form of X-linked congenital stationary night blindness (CSNB2). These mutations impair synaptic transmission from rod and cone photoreceptors to bipolar cells. Here, we report anatomical and functional characterizations of the retina in the nob2 (no b-wave 2) mouse, a naturally ...

      Known for Outer Retina | Visual Responses | Null Mutation | Nob2 Mice | Bipolar Cells
      KOL-Index: 13255

      X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable disease, respectively. However, mutations in the respective genes, RP2 and RPGR, were detected in only 10% and 20% of families with XLRP. Mutations in an alternatively spliced RPGR exon, ORF15, have recently been shown to account for 60% of XLRP ...

      Known for Linked Retinitis | Xlrp Mutations | Rp2 Rpgr | Proteins Genetic | 10 20
      KOL-Index: 12988

      We report the chromosomal localization, mutant gene identification, ophthalmic appearance, histology, and functional analysis of two new hereditary mouse models of retinal degeneration not having the Pde6brd1("r", "rd", or "rodless") mutation. One strain harbors an autosomal recessive mutation that maps to mouse chromosome 5. Sequence analysis showed that the retinal degeneration is caused by a missense point mutation in exon 13 of the beta-subunit of the rod cGMP phosphodiesterase ...

      Known for Retinal Degeneration | Missense Mutation | Rod Cgmp Phosphodiesterase | Rd1 Rd10 | Weeks Age
      KOL-Index: 12899

      Mutations in the retinal-expressed gene CRX (cone-rod homeobox gene) have been associated with dominant cone-rod dystrophy and with de novo Leber congenital amaurosis. However, CRX is a transcription factor for several retinal genes, including the opsins and the gene for interphotoreceptor retinoid binding protein. Because loss of CRX function could alter the expression of a number of other retinal proteins, we screened for mutations in the CRX gene in probands with a range of ...

      Known for Clinical Phenotypes | Mutations Crx | Retinal Proteins | Photoreceptor Transcription | Cone Rod
      KOL-Index: 12837

      Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated "RP12" and is characterized by a preserved para-arteriolar retinal pigment epithelium (PPRPE) and by severe loss of vision at age <20 years. Because of the early onset of disease in patients who have RP with PPRPE, we considered CRB1 to be a good candidate gene for Leber congenital amaurosis (LCA). Mutations were detected in 7 (13%) of 52 patients with LCA from the ...

      Known for Crumbs Homologue | Retinitis Pigmentosa | Patients Rp | Crb1 Mutations | Leber Congenital Amaurosis
      KOL-Index: 12450

      Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children. LCA is usually inherited in an autosomal recessive fashion, although rare dominant cases have been reported. One form of LCA, LCA4, maps to chromosome 17p13 and is genetically distinct from other forms of LCA. We recently identified the gene associated with LCA4, AIPL1 (aryl-hydrocarbon interacting protein-like 1) and identified three ...

      Known for Aipl1 Mutations | Inherited Retinal | Vertebrate Polymorphism | Proteins Dna | Severe Form
      KOL-Index: 12439

      Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration that affects approximately 1 in 3500 people worldwide. Recently we identified the gene responsible for the RP1 form of autosomal dominant retinitis pigmentosa (adRP) at 8q11-12 and found two different nonsense mutations in three families previously mapped to 8q. The RP1 gene is an unusually large protein, 2156 amino acids in length, but is comprised of four exons only. To determine the frequency and range of ...

      Known for Rp1 Gene | Retinitis Pigmentosa | Autosomal Dominant | Nonsense Mutations | Disease Adrp

      Key People For Retinitis Pigmentosa

      Top KOLs in the world
      #1
      Eliot L Berson
      retinitis pigmentosa visual acuity rhodopsin gene
      #2
      THADDEUS P Dryja
      retinitis pigmentosa rhodopsin gene missense mutation
      #3
      Gerald Allen Fishman
      retinitis pigmentosa visual acuity stargardt disease
      #4
      Michael A Sandberg
      retinitis pigmentosa visual acuity rhodopsin gene
      #5
      John R Heckenlively
      retinitis pigmentosa retinal degeneration visual acuity
      #6
      Samuel G Jacobson
      retinitis pigmentosa leber congenital amaurosis retinal degeneration

      Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA | Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA | Department of Op

    Download on the App StoreGet it on Google Play

    Copyright © 2023 Key Opinion Leaders, LLC.