Concepedia

Lowe Syndrome

Lowe Syndrome is a rare X-linked recessive disorder belonging to the class of hereditary kidney diseases, distinguished by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction due to mutations in the OCRL gene.

176

Publications

8.5K

Citations

827

Authors

331

Institutions

Publications per year

2017–2026

23

Variants

Oculocerebrorenal SyndromeOculocerebrorenal Syndrome Of Lowe

Parents

Publications

176

Which Neurodevelopmental Disorders Get Researched and Why?

Dorothy Bishop · PLoS ONE · 2010 · 305 citations · Full text

, , +17

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.

Xiang Zhang, Anne B. Jefferson, Vorachart Auethavekiat et al. · Proceedings of the National Academy of Sciences · 1995 · 287 citations

, , +11

A Role of the Lowe Syndrome Protein OCRL in Early Steps of the Endocytic Pathway

Kai S. Erdmann, Yuxin Mao, Heather J. McCrea et al. · Developmental Cell · 2007 · 273 citations

, , +16

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

Pasi A. Jänne, Sharon F. Suchy, David J. Bernard et al. · Journal of Clinical Investigation · 1998 · 184 citations · Full text

, , +15

Cell Lines from Kidney Proximal Tubules of a Patient with Lowe Syndrome Lack OCRL Inositol Polyphosphate 5-Phosphatase and Accumulate Phosphatidylinositol 4,5-Bisphosphate

Xiaoling Zhang, Patricia A. Hartz, Elizabeth Philip et al. · Journal of Biological Chemistry · 1998 · 170 citations · Full text

, , +15

1–5 of 176

Authors

827

  1. RL
    Robert L. Nussbaum

    Invitae (United States), United States

    13 publications · 929 citations

    13

    h-index

  2. ML
    Martin Lowe

    University of Manchester, United Kingdom

    12 publications · 773 citations

    12

    h-index

  3. JL
    Joël Lunardi

    Inserm, France

    8 publications · 435 citations

    8

    h-index

  4. SF
    Sharon F. Suchy

    National Human Genome Research Institute, United States

    8 publications · 801 citations

    8

    h-index

  5. LC
    Lawrence Charnas

    Johns Hopkins University, United States

    7 publications · 493 citations

    7

    h-index

1–5 of 827

Institutions

331

  1. National Human Genome Research Institute

    Bethesda, United States

    14 h-index

    39 publications

    4.1K citations

  2. University College London

    London, United Kingdom

    14 h-index

    44 publications

    3.3K citations

  3. University of Manchester

    Manchester, United Kingdom

    12 h-index

    40 publications

    2.8K citations

  4. Baylor College of Medicine

    Houston, United States

    10 h-index

    29 publications

    1.2K citations

  5. Inserm

    Paris, France

    9 h-index

    35 publications

    1.7K citations

  6. Howard Hughes Medical Institute

    Chevy Chase, United States

    9 h-index

    28 publications

    3.6K citations

  7. Centre Hospitalier Universitaire de Grenoble

    Grenoble, France

    8 h-index

    27 publications

    1.8K citations

  8. Great Ormond Street Hospital

    London, United Kingdom

    8 h-index

    16 publications

    1.4K citations

1–8 of 331

Venues

  1. Human Molecular Genetics

    13 publications · 934 citations

    13

    h-index

  2. PubMed

    Repository · 10 publications · 256 citations

    10

    h-index

  3. American Journal of Medical Genetics

    6 publications · 256 citations

    6

    h-index

  4. Proceedings of the National Academy of Sciences

    PNAS · 5 publications · 619 citations

    5

    h-index

  5. Human Mutation

    4 publications · 259 citations

    4

    h-index

1–5