Concepedia

Disease-associated Gap Junction Dysfunction

Disease-Associated Gap Junction Dysfunction is a pathological condition characterized by impaired intercellular communication through gap junctions, distinguished from other forms of cellular dysfunction by its specific disruption of direct cytoplasmic exchange between adjacent cells due to alterations in connexin expression, localization, or function.

105

Publications

7.7K

Citations

523

Authors

193

Institutions

Publications per year

2017–2026

17

Parents

Publications

105

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro et al. · The American Journal of Human Genetics · 2003 · 628 citations · Full text

, , +12

A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment

Ignacio del Castillo, Manuela Villamar, Miguel A. Moreno‐Pelayo et al. · New England Journal of Medicine · 2002 · 585 citations · Full text

, , +13

Mutations of the<i>Connexin43</i>Gap-Junction Gene in Patients with Heart Malformations and Defects of Laterality

Scott Britz-Cunningham, Maithili M. Shah, Craig W. Zuppan et al. · New England Journal of Medicine · 1995 · 381 citations

, , +17

Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

Birgit Uhlenberg, Markus Schuelke, Franz Rüschendorf et al. · The American Journal of Human Genetics · 2004 · 272 citations · Full text

, , +13

Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness

Martina Beltramello, Valeria Piazza, Feliksas F. Bukauskas et al. · Nature Cell Biology · 2004 · 253 citations

, , +14

1–5 of 105

Authors

523

  1. DB
    Donglin Bai

    Western University, Canada

    11 publications · 412 citations

    11

    h-index

  2. SS
    Steven S. Scherer

    University of Pennsylvania, United States

    9 publications · 744 citations

    9

    h-index

  3. DW
    Dale W. Laird

    Western University, Canada

    8 publications · 309 citations

    8

    h-index

  4. KA
    Kleopas A. Kleopa

    Cyprus Institute of Neurology and Genetics, Cyprus

    7 publications · 504 citations

    7

    h-index

  5. QS
    Qing Shao

    Western University, Canada

    5 publications · 214 citations

    5

    h-index

1–5 of 523

Institutions

193

  1. Western University

    London, Canada

    14 h-index

    68 publications

    2.7K citations

  2. University of Pennsylvania

    Philadelphia, United States

    8 h-index

    19 publications

    1.4K citations

  3. Albert Einstein College of Medicine

    Bronx, United States

    6 h-index

    19 publications

    2.8K citations

  4. Queen Mary University of London

    London, United Kingdom

    5 h-index

    23 publications

    1.6K citations

  5. Cyprus Institute of Neurology and Genetics

    Nicosia, Cyprus

    5 h-index

    19 publications

    1K citations

  6. Jerry L. Pettis Memorial VA Medical Center

    Loma Linda, United States

    4 h-index

    12 publications

    1.9K citations

  7. Loma Linda University

    Loma Linda, United States

    3 h-index

    14 publications

    2.5K citations

  8. University of Bonn

    Bonn, Germany

    3 h-index

    7 publications

    316 citations

1–8 of 193

Venues

  1. PLoS ONE

    4 publications · 106 citations

    4

    h-index

  2. Journal of Investigative Dermatology

    JID · 4 publications · 332 citations

    4

    h-index

  3. Endocrinology

    3 publications · 54 citations

    3

    h-index

  4. Journal of Cell Science

    3 publications · 258 citations

    3

    h-index

  5. Human Molecular Genetics

    3 publications · 183 citations

    3

    h-index

1–5