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Genetics

D-Index
63
Citations
22097
World Ranking
2846
National Ranking
1245

Overview

J. Fielding Hejtmancik is affiliated with the National Institutes of Health in the United States. Their research broadly spans the fields of Biochemistry, Genetics and Molecular Biology, with significant contributions to Medicine as well. Within these, their specialization extends to subfields including Molecular Biology, Ophthalmology, Genetics, Cell Biology, and Radiology, Nuclear Medicine and Imaging.

The scientist's research topics concentrate primarily on ocular conditions and molecular mechanisms. Key areas include:

  • Connexins and lens biology
  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • Ocular Disorders and Treatments
  • Retinopathy of Prematurity Studies
  • Biochemical effects in animals
  • Heme Oxygenase-1 and Carbon Monoxide

Hejtmancik has published research in multiple peer-reviewed journals. Notable recent papers include:

  • Inherited cataracts: Genetic mechanisms and pathways new and old (2021, Experimental Eye Research)
  • SIRT1 Inhibits High Glucose-Induced TXNIP/NLRP3 Inflammasome Activation and Cataract Formation (2023, Investigative Ophthalmology & Visual Science)
  • MITF protects against oxidative damage-induced retinal degeneration by regulating the NRF2 pathway in the retinal pigment epithelium (2020, Redox Biology)
  • Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish) (2020, PLoS Genetics)
  • Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis (2021, PLoS Genetics)

Their frequent co-authors include Xiaodong Jiao, Sheikh Riazuddin, Qingjiong Zhang, Wenmin Sun, and Xueshan Xiao, collaborators with whom they have published multiple times.

The scientist's works have appeared largely in the following publication venues:

  • Investigative Ophthalmology & Visual Science
  • Human Genetics
  • Experimental Eye Research
  • PLoS Genetics
  • British Journal of Ophthalmology

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

    Daniel J. Klionsky;Amal Kamal Abdel-Aziz;Sara Abdelfatah;Mahmoud Abdellatif

  • Rapamycin slows aging in mice.

    John E. Wilkinson;Lisa Burmeister;Susan V. Brooks;Chi Chao Chan

  • Molecular Genetics of Human Blue Cone Monochromacy

    Jeremy Nathans;Carol M. Davenport;Irene H. Maumenee;Richard Alan Lewis

  • Null mutations in LTBP2 cause primary congenital glaucoma.

    Manir Ali;Martin McKibbin;Martin McKibbin;Adam Booth;David A. Parry

  • Cat-Map: putting cataract on the map.

    Alan Shiels;Thomas M. Bennett;J. Fielding Hejtmancik

  • Localization of two genes for Usher syndrome type I to chromosome 11.

    Richard J.H. Smith;Elizabeth C. Lee;William J. Kimberling;Stephen P. Daiger

  • Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

    Anren Li;Xiaodong Jiao;Francis L. Munier;Daniel F. Schorderet

  • Autosomal Recessive Familial Exudative Vitreoretinopathy Is Associated with Mutations in LRP5

    Xiaodong Jiao;Valerio Ventruto;Michael T. Trese;Barkur S. Shastry

  • Mutations and mechanisms in congenital and age-related cataracts.

    Alan Shiels;J. Fielding Hejtmancik

  • Genetic origins of cataract.

    Alan Shiels;J. Fielding Hejtmancik

  • The EPHA2 gene is associated with cataracts linked to chromosome 1p.

    Alan Shiels;Thomas M. Bennett;Harry L.S. Knopf;Giovanni Maraini

  • Crystallin gene mutations in Indian families with inherited pediatric cataract

    Ramachandran Ramya Devi;Wenliang Yao;Perumalsamy Vijayalakshmi;Yuri V. Sergeev

  • Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

    Xiao Mei Ouyang;Denise Yan;Li Lin Du;J. Fielding. Hejtmancik

  • Molecular genetics of age-related cataract.

    J.Fielding Hejtmancik;Marc Kantorow

  • A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.

    Qingjiong Zhang;Xiangming Guo;Xueshan Xiao;Xiaoyun Jia

  • Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

    Lars Hansen;Wenliang Yao;Hans Eiberg;Klaus Wilbrandt Kjaer

  • Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10

    Sigrid Wayne;Vazken M. Der Kaloustian;Melvin Schloss;Robert Polomeno

  • Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

    Jianjun Chen;Zhiwei Ma;Xiaodong Jiao;Robert Fariss

  • Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

    Shouling Li;Leila Tiab;Xiaodong Jiao;Francis L. Munier

  • A Homozygous Splice Mutation in the HSF4 Gene Is Associated With an Autosomal Recessive Congenital Cataract

    Nizar Smaoui;Omar Beltaief;Sonia BenHamed;Ridha M’Rad

Frequent Co-Authors

Sheikh Riazuddin
Sheikh Riazuddin University of Health Sciences Lahore
Shaheen N. Khan
Shaheen N. Khan University of the Punjab
Qingjiong Zhang
Qingjiong Zhang Sun Yat-sen University
Paul A. Sieving
Paul A. Sieving University of California, Davis
Chi-Chao Chan
Chi-Chao Chan National Institutes of Health
Nicholas Katsanis
Nicholas Katsanis Galatea Bio Inc
Saima Riazuddin
Saima Riazuddin University of Maryland, Baltimore
Richard J.H. Smith
Richard J.H. Smith University of Iowa
Daniel F. Schorderet
Daniel F. Schorderet University of Lausanne
Kelly A. Frazer
Kelly A. Frazer University of California, San Diego

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