Concepedia

Slc3a1 Mutations

SLC3A1 Mutations is a genetic alteration in the SLC3A1 gene, which encodes the heavy subunit of the renal and intestinal cystine transporter, distinguished by its association with impaired cystine reabsorption leading to autosomal recessive cystinuria and cystine stone formation.

96

Publications

4.5K

Citations

635

Authors

252

Institutions

Publications per year

2017–2026

10

Parents

Publications

96

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

Lesley J. Bruce, Diane L. Cope, Graham K. Jones et al. · Journal of Clinical Investigation · 1997 · 363 citations · Full text

, , +16

Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers

Luca Dello Strologo, Elon Pras, C. Pontesilli et al. · Journal of the American Society of Nephrology · 2002 · 278 citations

, , +16

A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

Sorin V. Fedeles, Xin Tian, Anna‐Rachel Gallagher et al. · Nature Genetics · 2011 · 260 citations

, , +13

New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

Mariona Font-Llitjós · Journal of Medical Genetics · 2005 · 174 citations · Full text

, , +15

Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells

Lesley J. Bruce, Oliver Wrong, Ashley M. Toye et al. · Biochemical Journal · 2000 · 172 citations · Full text

, , +17

1–5 of 96

Authors

635

  1. TE
    Thomas Eggermann

    RWTH Aachen University, Germany

    9 publications · 251 citations

    9

    h-index

  2. LB
    Luigi Bisceglia

    Istituti di Ricovero e Cura a Carattere Scientifico, Italy

    9 publications · 708 citations

    9

    h-index

  3. MP
    Manuel Palacı́n

    Universitat de Barcelona, Spain

    8 publications · 416 citations

    8

    h-index

  4. VN
    Virginia Nunes

    Universitat de Barcelona, Spain

    8 publications · 644 citations

    8

    h-index

  5. FL
    Florian Läng

    University of Tübingen, Germany

    8 publications · 244 citations

    8

    h-index

1–5 of 635

Institutions

252

  1. Universitat de Barcelona

    Barcelona, Spain

    10 h-index

    58 publications

    6.6K citations

  2. Istituti di Ricovero e Cura a Carattere Scientifico

    Rome, Italy

    7 h-index

    38 publications

    3.3K citations

  3. University College London

    London, United Kingdom

    6 h-index

    13 publications

    2K citations

  4. Sheba Medical Center

    Ramat Gan, Israel

    6 h-index

    7 publications

    701 citations

  5. Casa Sollievo della Sofferenza

    San Giovanni Rotondo, Italy

    6 h-index

    34 publications

    1.5K citations

  6. University of Bristol

    Bristol, United Kingdom

    6 h-index

    24 publications

    3.5K citations

  7. Duran i Reynals Hospital

    Barcelona, Spain

    5 h-index

    41 publications

    5.8K citations

  8. University of Pennsylvania

    Philadelphia, United States

    5 h-index

    20 publications

    1K citations

1–8 of 252

Venues

  1. PubMed

    Repository · 9 publications · 291 citations

    9

    h-index

  2. Kidney International

    7 publications · 311 citations

    7

    h-index

  3. Human Mutation

    4 publications · 82 citations

    4

    h-index

  4. Journal of Inherited Metabolic Disease

    JIMD · 4 publications · 114 citations

    4

    h-index

  5. PLoS ONE

    3 publications · 77 citations

    3

    h-index

1–5