Molecular pathogenesis of hypophosphatemic rickets

被引:52
作者
de Beur, SMJ
Levine, MA
机构
[1] Johns Hopkins Univ, Sch Med, Dept Med, Div Endocrinol & Metab, Baltimore, MD 21287 USA
[2] Johns Hopkins Univ, Sch Med, Ilyssa Ctr Mol & Cellular Endocrinol, Baltimore, MD 21287 USA
[3] Johns Hopkins Univ, Sch Med, Dept Pediat, Div Pediat Endocrinol, Baltimore, MD 21287 USA
关键词
D O I
10.1210/jc.87.6.2467
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:2467 / 2473
页数:7
相关论文
共 56 条
[1]   Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice [J].
Beck, L ;
Soumounou, Y ;
Martel, J ;
Krishnamurthy, G ;
Gauthier, C ;
Goodyer, CG ;
Tenenhouse, HS .
JOURNAL OF CLINICAL INVESTIGATION, 1997, 99 (06) :1200-1209
[2]   Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities [J].
Beck, L ;
Karaplis, AC ;
Amizuka, N ;
Hewson, AS ;
Ozawa, H ;
Tenenhouse, HS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (09) :5372-5377
[3]  
BIOLEAU G, 2001, BIOCHEM J, V355, P707
[4]   FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate [J].
Bowe, AE ;
Finnegan, R ;
de Beur, SMJ ;
Cho, J ;
Levine, MA ;
Kumar, R ;
Schiavi, SC .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2001, 284 (04) :977-981
[5]   INHIBITION OF RENAL PHOSPHATE-TRANSPORT BY A TUMOR PRODUCT IN A PATIENT WITH ONCOGENIC OSTEOMALACIA [J].
CAI, Q ;
HODGSON, SF ;
KAO, PC ;
LENNON, VA ;
KLEE, GG ;
ZINSMIESTER, AR ;
KUMAR, R .
NEW ENGLAND JOURNAL OF MEDICINE, 1994, 330 (23) :1645-1649
[6]   New perspectives on the biology and treatment of X-linked hypophosphatemic rickets [J].
Carpenter, TO .
PEDIATRIC CLINICS OF NORTH AMERICA, 1997, 44 (02) :443-+
[7]   Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism [J].
De Beur, SMJ ;
Finnegan, RB ;
Vassiliadis, J ;
Cook, B ;
Barberio, D ;
Estes, S ;
Manavalan, P ;
Petroziello, J ;
Madden, SL ;
Cho, JY ;
Kumar, R ;
Levine, MA ;
Schiavi, SC .
JOURNAL OF BONE AND MINERAL RESEARCH, 2002, 17 (06) :1102-1110
[8]   Mutational analysis of PHEX gene in X-linked hypophosphatemia [J].
Dixon, PH ;
Christie, PT ;
Wooding, C ;
Trump, D ;
Grieff, M ;
Holm, I ;
Gertner, JM ;
Schmidtke, J ;
Shah, B ;
Shaw, N ;
Smith, C ;
Tau, C ;
Schlessinger, D ;
Whyte, MP ;
Thakker, RV .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (10) :3615-3623
[9]  
DREZNER MK, 1999, PRIMER METABOLIC BON, P319
[10]   DEFECTIVE BONE-FORMATION BY TRANSPLANTED HYP MOUSE BONE-CELLS INTO NORMAL MICE [J].
ECAROTCHARRIER, B ;
GLORIEUX, FH ;
TRAVERS, R ;
DESBARATS, M ;
BOUCHARD, F ;
HINEK, A .
ENDOCRINOLOGY, 1988, 123 (02) :768-773