COL4A3/COL4A4 AS A CAUSE OF MULTICYSTIC KIDNEY DISEASE

被引:0
|
作者
Bosch, Teresa Bada [1 ]
Sevillano, Angel [1 ]
Afonso, Sara [1 ]
Gutierrez, Eduardo [1 ]
Escribano, Teresa Cavero [1 ]
Gutierrez, Elena [1 ]
Garcia, Florencio [1 ]
Morales, Enrique [1 ]
Caro Espada, Paula Jara [1 ]
Praga, Manuel
机构
[1] Hosp Univ 12 Octubre, Nephrol, Madrid, Spain
关键词
D O I
暂无
中图分类号
R3 [基础医学]; R4 [临床医学];
学科分类号
1001 ; 1002 ; 100602 ;
摘要
MO052
引用
收藏
页数:1
相关论文
共 50 条
  • [1] Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria
    Badenas, C
    Praga, M
    Tazón, B
    Heidet, L
    Arrondel, C
    Armengol, A
    Andrés, A
    Morales, E
    Camacho, JA
    Lens, X
    Dávila, S
    Milà, M
    Antignac, C
    Darnell, A
    Torra, R
    [J]. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2002, 13 (05): : 1248 - 1254
  • [2] ARE KIDNEY CYSTSMORE COMMON IN PEOPLE WITH COL4A3/COL4A4 PATHOGENIC VARIANTS?
    Pilco Teran, Melissa
    Furlano, Monica
    Pybus, Marc
    Martinez Jimenez, Victor
    Rius Peris, Asuncion
    Perez Gomez, Maria Vanessa
    Berna Redondo, Gerson
    Fayos De Arizon, Leonor
    Ars, Elisabet
    Torra, Roser
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2023, 38 : I220 - I221
  • [3] Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria.
    Badenas, C
    Tazon, B
    Heidet, L
    Arrondel, C
    Mila, M
    Antignac, C
    Darnell, A
    Torra, R
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 641 - 641
  • [4] ADPKD and collagen genes (COL4A3, COL4A4, COL4A5)
    Caprara, Carlotta
    Corradi, Valentina
    Rigato, Matteo
    Mancini, Barbara
    Marzano, Nenzi
    Perbellini, Omar
    Gastaldon, Fiorella
    Ronco, Claudio
    Zanella, Monica
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I1962 - I1962
  • [5] Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus
    Stabuc-Silih, Mirna
    Ravnik-Glavac, Metka
    Glavac, Damjan
    Hawlina, Marko
    Strazisar, Mojca
    [J]. MOLECULAR VISION, 2009, 15 (300-01): : 2848 - 2859
  • [6] Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
    Mastrangelo, Antonio
    Madeira, Catarina
    Castorina, Pierangela
    Giani, Marisa
    Montini, Giovanni
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2022, 37 (12) : 2398 - 2407
  • [7] Canine COL4A3 and COL4A4:: Sequencing, mapping and genomic organization
    Wiersma, AC
    Millon, LV
    Hestand, MS
    Van Oost, BA
    Bannasch, DL
    [J]. DNA SEQUENCE, 2005, 16 (04): : 241 - 251
  • [8] Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families
    Woud, Sander Groen in 't
    Rood, Ilse M.
    Steenbergen, Eric
    Willemsen, Brigith
    Dijkman, Henry B.
    van Geel, Michel
    Schoots, Jeroen
    Wetzels, Jack F. M.
    Lugtenberg, Dorien
    Deegens, Jeroen K. J.
    Bongers, Ernie M. H. F.
    [J]. KIDNEY MEDICINE, 2023, 5 (04)
  • [9] Evaluation of canine COL4A3 and COL4A4 as candidates for familial renal disease in the Norwegian elkhound
    Wiersma, AC
    Millon, LV
    van Dongen, AM
    van Oost, BA
    Bannasch, DL
    [J]. JOURNAL OF HEREDITY, 2005, 96 (07) : 739 - 744
  • [10] Factors affecting disease progression in individuals with heterozygous COL4A3/COL4A4 pathogenic variants
    Pilco Teran, Melissa
    Furlano, Monica
    Pybus, Marc
    Martinez Jimenez, Victor
    Goma-Garces, Elena
    Galan Carrillo, Isabel
    Leon, Rafael
    Soler Romeo, Maria Jose
    Fayos de Arizon, Leonor
    Perera, Alexandre
    Ars, Elisabet
    Torra, Roser
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I416 - I417