Investigating Functional Consequences of Novel Disease-Causing Mutations of CLCN7 Gene

被引：0
|
作者：
Di Zanni, Eleonora [1 ]
Picollo, Alessandra [1 ]
机构：
[1] Natl Res Council CNR, Inst Biophys IBF, Genoa, Italy
来源：
BIOPHYSICAL JOURNAL | 2019年 / 116卷 / 03期
关键词：
D O I：
10.1016/j.bpj.2018.11.961
中图分类号：
Q6 [生物物理学];
学科分类号：
071011 ;
摘要：
856-Plat
引用
收藏
页码：173A / 173A
页数：1
相关论文
共 50 条
  • [21] Malignant infantile osteopetrosis presenting with hypocalcemia due to a novel mutation of the CLCN7 gene
    Boucher-Berry, Claudia
    Fish, Jonathan
    Choi-Rosen, Jeanne
    Fox, Joyce E.
    Sahdev, Indira
    Kreitzer, Paula M.
    HORMONE RESEARCH, 2009, 72 : 79 - 79
  • [22] Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis
    Bug, Dmitrii S.
    Barkhatov, Ildar M.
    Gudozhnikova, Yana V.
    Tishkov, Artem V.
    Zhulin, Igor B.
    Petukhova, Natalia V.
    GENES, 2020, 11 (11) : 1 - 8
  • [23] Evidence that the rat osteopetrotic mutation Op is not in the Clcn7 gene
    Dobbins, DE
    FASEB JOURNAL, 2005, 19 (05): : A1533 - A1533
  • [24] Investigating Disease-Causing Mutations in SLC4 Transporter Homologs
    Hendrix, Claire
    Abera, Tsega-Ab
    Thurtle-Schmidt, Bryan
    FASEB JOURNAL, 2022, 36
  • [25] A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis
    Peng, Hui
    He, Hong-Bo
    Wen, Ting
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2020, 8
  • [26] Functional and structural characterization of disease-causing mutations in α-mannosidosis.
    Stensland, HMFR
    Hansen, GM
    Heikinheimo, P
    Tollersrud, OK
    Nilssen, O
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 413 - 413
  • [27] Structure and function of disease-causing missense mutations in the PHEX gene
    Sabbagh, Y
    Boileau, G
    Campos, M
    Carmona, AK
    Tenenhouse, HS
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (05): : 2213 - 2222
  • [28] Intrafamilial phenotypic variability of osteopetrosis due to Chloride Channel 7 (CLCN7) mutations
    Campos-Xavier, AB
    Casanova, JL
    Doumaz, Y
    Feingold, J
    Munnich, A
    Cormier-Daire, V
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 133A (02) : 216 - 218
  • [29] Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene
    Jang, Yoon J.
    LaBella, Abigail L.
    Feeney, Timothy P.
    Braverman, Nancy
    Tuchman, Mendel
    Morizono, Hiroki
    Mew, Nicholas Ah
    Caldovic, Ljubica
    HUMAN MUTATION, 2018, 39 (04) : 527 - 536
  • [30] Characterization of mutations in the chloride channel 7 (ClCN7) gene that cause autosomal dominant osteopetrosis, Type II.
    Waguespack, SG
    White, KE
    Koller, DL
    Carn, G
    Buckwalter, KA
    Evans, WE
    Johnson, ML
    Kocisko, M
    Foroud, T
    Econs, MJ
    JOURNAL OF BONE AND MINERAL RESEARCH, 2002, 17 : S144 - S145
12345