Allelic Heterogeneity Contributes to Variability in Ocular Dysgenesis, Myopathy, and Brain Malformations Caused by Col4a1 and Col4a2 Mutations

被引:0
|
作者
Kuo, Debbie [1 ]
Labelle-Dumais, Cassandre [1 ]
Mao, Mao [1 ]
Jeanne, Marion [1 ]
Kauffman, William [1 ]
Allen, Jennifer [1 ]
Favor, Jack [2 ]
Gould, Douglas [1 ,3 ,4 ]
机构
[1] Univ Calif San Francisco, Ophthalmol, San Francisco, CA 94143 USA
[2] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany
[3] Univ Calif San Francisco, Anat, San Francisco, CA 94143 USA
[4] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA
关键词
539; genetics; 519 extracellular matrix;
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页数:3
相关论文
共 50 条
  • [31] Elevated TGFI3 signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice
    Mao, Mao
    Labelle-Dumais, Cassandre
    Keene, Douglas R.
    Gould, Douglas B.
    MATRIX BIOLOGY, 2022, 110 : 151 - 173
  • [32] Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse
    Mao, Mao
    Kiss, Marton
    Ou, Yvonne
    Gould, Douglas B.
    DISEASE MODELS & MECHANISMS, 2017, 10 (04) : 475 - 485
  • [33] Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
    Hiromi Ogura
    Shouichi Ohga
    Takako Aoki
    Taiju Utsugisawa
    Hidehiro Takahashi
    Asayuki Iwai
    Kenichiro Watanabe
    Yusuke Okuno
    Kenichi Yoshida
    Seishi Ogawa
    Satoru Miyano
    Seiji Kojima
    Toshiyuki Yamamoto
    Keiko Yamamoto-Shimojima
    Hitoshi Kanno
    Human Genome Variation, 7
  • [34] Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
    Ogura, Hiromi
    Ohga, Shouichi
    Aoki, Takako
    Utsugisawa, Taiju
    Takahashi, Hidehiro
    Iwai, Asayuki
    Watanabe, Kenichiro
    Okuno, Yusuke
    Yoshida, Kenichi
    Ogawa, Seishi
    Miyano, Satoru
    Kojima, Seiji
    Yamamoto, Toshiyuki
    Yamamoto-Shimojima, Keiko
    Kanno, Hitoshi
    HUMAN GENOME VARIATION, 2020, 7 (01)
  • [35] Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
    Gould, Douglas B.
    Marchant, Jeffrey K.
    Savinova, Olga V.
    Smith, Richard S.
    John, Simon W. M.
    HUMAN MOLECULAR GENETICS, 2007, 16 (07) : 798 - 807
  • [36] MACRORESTRICTION MAPPING OF COL4A1 AND COL4A2 COLLAGEN GENES ON HUMAN-CHROMOSOME 13Q34
    CUTTING, GR
    KAZAZIAN, HH
    ANTONARAKIS, SE
    KILLEN, PD
    YAMADA, Y
    FRANCOMANO, CA
    GENOMICS, 1988, 3 (03) : 256 - 263
  • [37] Drosophila basement membrane collagen col4a1 mutations cause severe myopathy
    Kelemen-Valkony, Ildiko
    Kiss, Marton
    Csiha, Judit
    Kiss, Andras
    Bircher, Urs
    Szidonya, Janos
    Maroy, Peter
    Juhasz, Gabor
    Komonyi, Orban
    Csiszar, Katalin
    Mink, Matyas
    MATRIX BIOLOGY, 2012, 31 (01) : 29 - 37
  • [38] COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes
    Kuuluvainen, Liina
    Monkare, Saana
    Kokkonen, Hannaleena
    Zhao, Fang
    Verkkoniemi-Ahola, Auli
    Schleutker, Johanna
    Hakonen, Anna H.
    Hartikainen, Paivi
    Poyhonen, Minna
    Myllykangas, Liisa
    STROKE, 2021, 52 (10) : E624 - E625
  • [39] Epistasis Analysis Identifies Extracellular Matrix Genes Interacting With the COL4A1/COL4A2 Coronary Artery Disease Locus
    Turner, Adam
    Nikpay, Majid
    Lau, Paulina
    Soubeyrand, Sebastien
    McPherson, Ruth
    ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2014, 34
  • [40] Cooperative and competitive interactions of regulatory elements are involved in the control of divergent transcription of human Col4A1 and Col4A2 genes
    Pollner, R
    Schmidt, C
    Fischer, G
    Kuhn, K
    Poschl, E
    FEBS LETTERS, 1997, 405 (01) : 31 - 36