Rescue of the phenotype of CYP27B1 (1α-hydroxylase)-deficient mice

The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1; 1α-OHase) gene, is replacement therapy with 1,25(OH) 2D 3. We have previously engineered an animal model of PDDR by targeted inactivation of the 1α-OHase ge...

Full description

Saved in:
Bibliographic Details
Published inJournal of steroid biochemistry and molecular biology Vol. 89; no. 1-5; pp. 327 - 330
Main Authors Dardenne, Olivier, Prud’homme, Josée, Glorieux, Francis H., St-Arnaud, René
Format Journal Article Conference Proceeding
LanguageEnglish
Published Oxford Elsevier Ltd 01.05.2004
Elsevier Science
Subjects
Online AccessGet full text

Cover

Loading…
Abstract The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1; 1α-OHase) gene, is replacement therapy with 1,25(OH) 2D 3. We have previously engineered an animal model of PDDR by targeted inactivation of the 1α-OHase gene in mice (Endocrinology 142 (2001) 3135). Replacement therapy was performed in this model, and compared to feeding with a high calcium diet containing 2% calcium, 1.25% phosphorus, 20% lactose (rescue diet). Blood biochemistry analysis revealed that both rescue treatments corrected the hypocalcemia and secondary hyperparathyroidism. Bone histology and histomorphometry confirmed that the rickets and osteomalacia were cured by both rescue protocols. However, despite the restoration of normocalcemia, the rescue diet did not entirely correct bone growth as femur size remained significantly smaller than control in 1α-OHase −/− mice fed the rescue diet. These results demonstrate that correction of the abnormal mineral ion homeostasis by feeding with a high calcium rescue diet is effective to rescue the PDDR phenotype of 1α-OHase mutant mice. This treatment, however, does not appear as effective as 1,25(OH) 2D 3 replacement therapy since bone growth remained impaired.
AbstractList The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1; 1alpha-OHase) gene, is replacement therapy with 1,25(OH)(2)D(3). We have previously engineered an animal model of PDDR by targeted inactivation of the 1alpha-OHase gene in mice (Endocrinology 142 (2001) 3135). Replacement therapy was performed in this model, and compared to feeding with a high calcium diet containing 2% calcium, 1.25% phosphorus, 20% lactose (rescue diet). Blood biochemistry analysis revealed that both rescue treatments corrected the hypocalcemia and secondary hyperparathyroidism. Bone histology and histomorphometry confirmed that the rickets and osteomalacia were cured by both rescue protocols. However, despite the restoration of normocalcemia, the rescue diet did not entirely correct bone growth as femur size remained significantly smaller than control in 1alpha-OHase(-/-) mice fed the rescue diet. These results demonstrate that correction of the abnormal mineral ion homeostasis by feeding with a high calcium rescue diet is effective to rescue the PDDR phenotype of 1alpha-OHase mutant mice. This treatment, however, does not appear as effective as 1,25(OH)(2)D(3) replacement therapy since bone growth remained impaired.
The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1; 1α-OHase) gene, is replacement therapy with 1,25(OH) 2D 3. We have previously engineered an animal model of PDDR by targeted inactivation of the 1α-OHase gene in mice (Endocrinology 142 (2001) 3135). Replacement therapy was performed in this model, and compared to feeding with a high calcium diet containing 2% calcium, 1.25% phosphorus, 20% lactose (rescue diet). Blood biochemistry analysis revealed that both rescue treatments corrected the hypocalcemia and secondary hyperparathyroidism. Bone histology and histomorphometry confirmed that the rickets and osteomalacia were cured by both rescue protocols. However, despite the restoration of normocalcemia, the rescue diet did not entirely correct bone growth as femur size remained significantly smaller than control in 1α-OHase −/− mice fed the rescue diet. These results demonstrate that correction of the abnormal mineral ion homeostasis by feeding with a high calcium rescue diet is effective to rescue the PDDR phenotype of 1α-OHase mutant mice. This treatment, however, does not appear as effective as 1,25(OH) 2D 3 replacement therapy since bone growth remained impaired.
Author St-Arnaud, René
Prud’homme, Josée
Dardenne, Olivier
Glorieux, Francis H.
Author_xml – sequence: 1
  givenname: Olivier
  surname: Dardenne
  fullname: Dardenne, Olivier
  organization: Genetics Unit, Shriners Hospital for Children, Montreal, Que., Canada H3G 1A6
– sequence: 2
  givenname: Josée
  surname: Prud’homme
  fullname: Prud’homme, Josée
  organization: Genetics Unit, Shriners Hospital for Children, Montreal, Que., Canada H3G 1A6
– sequence: 3
  givenname: Francis H.
  surname: Glorieux
  fullname: Glorieux, Francis H.
  organization: Genetics Unit, Shriners Hospital for Children, Montreal, Que., Canada H3G 1A6
– sequence: 4
  givenname: René
  surname: St-Arnaud
  fullname: St-Arnaud, René
  email: rst-arnaud@shriners.mcgill.ca
  organization: Genetics Unit, Shriners Hospital for Children, Montreal, Que., Canada H3G 1A6
BackLink http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15936888$$DView record in Pascal Francis
https://www.ncbi.nlm.nih.gov/pubmed/15225794$$D View this record in MEDLINE/PubMed
BookMark eNp9kMtq3TAQhkVISU7SPEGgeJOQLOzqZllaZJEeeoNAS0gWWQlJHnNkfIvkU3IeKy_SZ6qdY2hXnc0ww_cPw3eCDru-A4TOCc4IJuJjndXRtjajGPMMswxTcYBWRBYqJZTiQ7TCSuAUFwIfo5MYa4wxY6Q4QsckpzQvFF-h9T1Et4Wkr5JxA8mwga4fd8PbYv30kxafSHJFfr-mm10Z-pddYyJcpyVU3nnoxqT1Dt6jd5VpIpwt_RQ9fvn8sP6W3v34-n19e5c6JvMxNcAI5NIQY6XgBafgGOOmkpZTKZRlhBKiKmsto7xUUHDBJeVMgZXTnLNTdLm_O4T-eQtx1K2PDprGdNBvoxZzUakmkO1BF_oYA1R6CL41YacJ1rM7Xes3d3p2pzHTk7sp9WE5v7UtlH8zi6wJuFgAE51pqmA65-M_nGJCSjlxN3sOJhm_PAQdZ1kOSh_Ajbrs_X8f-QMEf42i
CitedBy_id crossref_primary_10_1016_j_cca_2008_04_011
crossref_primary_10_1359_jbmr_080903
crossref_primary_10_1210_endocr_bqad186
crossref_primary_10_2353_ajpath_2006_060329
crossref_primary_10_1016_j_bone_2007_02_024
crossref_primary_10_1002_jcb_22661
crossref_primary_10_1038_kisup_2011_28
crossref_primary_10_1016_j_beem_2011_05_008
crossref_primary_10_1016_j_mam_2008_05_003
crossref_primary_10_1016_j_mce_2005_11_039
crossref_primary_10_1002_ibd_20385
crossref_primary_10_3389_fendo_2022_860286
crossref_primary_10_1111_j_1753_4887_2011_00395_x
crossref_primary_10_1210_en_2010_0354
crossref_primary_10_1172_jci_insight_163259
crossref_primary_10_1016_j_jsbmb_2009_01_020
crossref_primary_10_1210_en_2010_0334
crossref_primary_10_1016_j_jsbmb_2006_12_084
Cites_doi 10.1073/pnas.131029498
10.1073/pnas.94.18.9831
10.1038/ng0897-391
10.1073/pnas.231474698
10.1016/S0022-3476(81)80952-3
10.1210/er.20.2.156
10.1056/NEJM197310182891601
10.1359/jbmr.2003.18.4.637
10.1210/en.142.7.3135
10.1007/PL00009639
10.1210/en.140.11.4982
10.1210/en.139.10.4391
ContentType Journal Article
Conference Proceeding
Copyright 2004 Elsevier Ltd
2004 INIST-CNRS
Copyright_xml – notice: 2004 Elsevier Ltd
– notice: 2004 INIST-CNRS
DBID IQODW
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7X8
DOI 10.1016/j.jsbmb.2004.03.026
DatabaseName Pascal-Francis
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
MEDLINE - Academic
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
MEDLINE - Academic
DatabaseTitleList MEDLINE - Academic
MEDLINE

Database_xml – sequence: 1
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 2
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Chemistry
EISSN 1879-1220
EndPage 330
ExternalDocumentID 10_1016_j_jsbmb_2004_03_026
15225794
15936888
S0960076004000743
Genre Journal Article
GroupedDBID ---
--K
--M
-~X
.55
.GJ
.~1
0R~
123
1B1
1RT
1~.
1~5
29L
3O-
4.4
457
4G.
53G
5VS
7-5
71M
8P~
9JM
AACTN
AAEDT
AAEDW
AAIAV
AAIKJ
AAKOC
AALRI
AAOAW
AAQFI
AAQXK
AAXUO
ABFNM
ABFRF
ABGSF
ABJNI
ABMAC
ABUDA
ABXDB
ABYKQ
ACDAQ
ACGFS
ACIUM
ACPRK
ACRLP
ADBBV
ADEZE
ADMUD
ADUVX
AEBSH
AEFWE
AEHWI
AEKER
AENEX
AFKWA
AFTJW
AFXIZ
AGHFR
AGRDE
AGUBO
AGYEJ
AHHHB
AHPSJ
AIEXJ
AIKHN
AITUG
AJBFU
AJOXV
ALMA_UNASSIGNED_HOLDINGS
AMFUW
AMRAJ
ASPBG
AVWKF
AXJTR
AZFZN
BKOJK
BLXMC
CS3
DOVZS
DU5
EBS
EFJIC
EFLBG
EJD
EO8
EO9
EP2
EP3
F5P
FDB
FEDTE
FGOYB
FIRID
FNPLU
FYGXN
G-2
G-Q
GBLVA
HLW
HVGLF
HZ~
IH2
IHE
J1W
KOM
L7B
LX3
M41
MO0
N9A
O-L
O9-
OAUVE
OZT
P-8
P-9
P2P
PC.
Q38
R2-
RIG
ROL
RPZ
SBG
SDF
SDG
SDP
SES
SEW
SPCBC
SSU
SSZ
T5K
WUQ
X7M
ZGI
ZXP
~G-
08R
AAUGY
ABPIF
ABPTK
IQODW
AAXKI
AFJKZ
AKRWK
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
ACRPL
ADNMO
CITATION
7X8
ID FETCH-LOGICAL-c385t-ae31e58a1ab864742ec334af8b42869b312119fbbb324d9e746482439eb84d953
IEDL.DBID AIKHN
ISSN 0960-0760
IngestDate Fri Oct 25 01:44:28 EDT 2024
Fri Dec 06 04:57:27 EST 2024
Sat Sep 28 07:40:12 EDT 2024
Sun Oct 22 16:08:34 EDT 2023
Fri Feb 23 02:33:17 EST 2024
IsPeerReviewed true
IsScholarly true
Issue 1-5
Keywords CYP27B1
Rickets
Vitamin D
25-hydroxyvitamin D-1α-hydroxylase
Enzyme
Deficiency
Hydroxylase
Rodentia
Vertebrata
Phenotype
Mammalia
Mouse
Animal
Oxidoreductases
CYP27B I
Language English
License CC BY 4.0
https://www.elsevier.com/tdm/userlicense/1.0
LinkModel DirectLink
MeetingName Proceedings of the 12th Workshop on Vitamin D (Maastricht, The Netherlands - 6-10 July 2003)
MergedId FETCHMERGED-LOGICAL-c385t-ae31e58a1ab864742ec334af8b42869b312119fbbb324d9e746482439eb84d953
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
PMID 15225794
PQID 66666289
PQPubID 23479
PageCount 4
ParticipantIDs proquest_miscellaneous_66666289
crossref_primary_10_1016_j_jsbmb_2004_03_026
pubmed_primary_15225794
pascalfrancis_primary_15936888
elsevier_sciencedirect_doi_10_1016_j_jsbmb_2004_03_026
PublicationCentury 2000
PublicationDate 2004-05-01
PublicationDateYYYYMMDD 2004-05-01
PublicationDate_xml – month: 05
  year: 2004
  text: 2004-05-01
  day: 01
PublicationDecade 2000
PublicationPlace Oxford
PublicationPlace_xml – name: Oxford
– name: England
PublicationTitle Journal of steroid biochemistry and molecular biology
PublicationTitleAlternate J Steroid Biochem Mol Biol
PublicationYear 2004
Publisher Elsevier Ltd
Elsevier Science
Publisher_xml – name: Elsevier Ltd
– name: Elsevier Science
References Fraser, Kooh, Kind, Holick, Tanaka, DeLuca (BIB2) 1973; 289
Delvin, Glorieux, Marie, Pettifor (BIB5) 1981; 99
Amling, Priemel, Holzmann, Chapin, Rueger, Baron, Demay (BIB11) 1999; 140
Li, Amling, Pirro, Priemel, Meuse, Baron, Delling, Demay (BIB13) 1998; 139
Malloy, Pike, Feldman (BIB7) 1999; 20
Yoshizawa, Handa, Uematsu, Takeda, Sekine, Yoshihara, Kawakami, Arioka, Sato, Uchiyama, Masushige, Fukamizu, Matsumoto, Kato (BIB9) 1997; 16
Dardenne, Prudhomme, Hacking, Glorieux, St-Arnaud (BIB12) 2003; 18
Li, Pirro, Amling, Delling, Baron, Bronson, Demay (BIB8) 1997; 94
Portale, Miller (BIB1) 2000; 14
Van Cromphaut, Dewerchin, Hoenderop, Stockmans, Van Herck, Kato, Bindels, Collen, Carmeliet, Bouillon, Carmeliet (BIB10) 2001; 98
Panda, Miao, Tremblay, Sirois, Farookhi, Hendy, Goltzman (BIB4) 2001; 98
F.H. Glorieux, R. St-Arnaud, in: D. Feldman, F.H. Glorieux, J.W. Pike (Eds.), Vitamin D, Academic Press, San Diego, 1997, pp. 755–764.
Dardenne, Prud’homme, Arabian, Glorieux, St-Arnaud (BIB3) 2001; 142
Dardenne (10.1016/j.jsbmb.2004.03.026_BIB12) 2003; 18
Fraser (10.1016/j.jsbmb.2004.03.026_BIB2) 1973; 289
Portale (10.1016/j.jsbmb.2004.03.026_BIB1) 2000; 14
Yoshizawa (10.1016/j.jsbmb.2004.03.026_BIB9) 1997; 16
Amling (10.1016/j.jsbmb.2004.03.026_BIB11) 1999; 140
Li (10.1016/j.jsbmb.2004.03.026_BIB13) 1998; 139
Van Cromphaut (10.1016/j.jsbmb.2004.03.026_BIB10) 2001; 98
Delvin (10.1016/j.jsbmb.2004.03.026_BIB5) 1981; 99
Dardenne (10.1016/j.jsbmb.2004.03.026_BIB3) 2001; 142
Malloy (10.1016/j.jsbmb.2004.03.026_BIB7) 1999; 20
Panda (10.1016/j.jsbmb.2004.03.026_BIB4) 2001; 98
Li (10.1016/j.jsbmb.2004.03.026_BIB8) 1997; 94
10.1016/j.jsbmb.2004.03.026_BIB6
References_xml – volume: 142
  start-page: 3135
  year: 2001
  end-page: 3141
  ident: BIB3
  article-title: Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)- hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets
  publication-title: Endocrinology
  contributor:
    fullname: St-Arnaud
– volume: 16
  start-page: 391
  year: 1997
  end-page: 396
  ident: BIB9
  article-title: Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning
  publication-title: Nat. Genet.
  contributor:
    fullname: Kato
– volume: 140
  start-page: 4982
  year: 1999
  end-page: 4987
  ident: BIB11
  article-title: Rescue of the skeletal phenotype of vitamin D receptor-ablated mice in the setting of normal mineral ion homeostasis: formal histomorphometric and biomechanical analyses
  publication-title: Endocrinology
  contributor:
    fullname: Demay
– volume: 18
  start-page: 637
  year: 2003
  end-page: 643
  ident: BIB12
  article-title: Rescue of the pseudo-vitamin D deficiency rickets phenotype of CYP27B1-deficient mice by treatment with 1,25-dihydroxyvitamin D3: biochemical, histomorphometric, and biomechanical analyses
  publication-title: J. Bone Miner Res.
  contributor:
    fullname: St-Arnaud
– volume: 289
  start-page: 817
  year: 1973
  end-page: 822
  ident: BIB2
  article-title: Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D
  publication-title: N. Engl. J. Med.
  contributor:
    fullname: DeLuca
– volume: 139
  start-page: 4391
  year: 1998
  end-page: 4396
  ident: BIB13
  article-title: Normalization of mineral ion homeostasis by dietary means prevents hyperparathyroidism, rickets, and osteomalacia, but not alopecia in vitamin D receptor-ablated mice
  publication-title: Endocrinology
  contributor:
    fullname: Demay
– volume: 94
  start-page: 9831
  year: 1997
  end-page: 9835
  ident: BIB8
  article-title: Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  contributor:
    fullname: Demay
– volume: 99
  start-page: 26
  year: 1981
  end-page: 34
  ident: BIB5
  article-title: Vitamin D dependency: replacement therapy with calcitriol
  publication-title: J. Pediatr.
  contributor:
    fullname: Pettifor
– volume: 20
  start-page: 156
  year: 1999
  end-page: 188
  ident: BIB7
  article-title: The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets
  publication-title: Endocr. Rev.
  contributor:
    fullname: Feldman
– volume: 14
  start-page: 620
  year: 2000
  end-page: 625
  ident: BIB1
  article-title: Human 25-hydroxyvitamin D-1alpha-hydroxylase: cloning, mutations, and gene expression
  publication-title: Pediatr. Nephrol.
  contributor:
    fullname: Miller
– volume: 98
  start-page: 7498
  year: 2001
  end-page: 7503
  ident: BIB4
  article-title: Targeted ablation of the 25-hydroxyvitamin D 1alpha-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  contributor:
    fullname: Goltzman
– volume: 98
  start-page: 13324
  year: 2001
  end-page: 13329
  ident: BIB10
  article-title: Duodenal calcium absorption in vitamin D receptor-knockout mice: functional and molecular aspects
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  contributor:
    fullname: Carmeliet
– volume: 98
  start-page: 7498
  issue: 13
  year: 2001
  ident: 10.1016/j.jsbmb.2004.03.026_BIB4
  article-title: Targeted ablation of the 25-hydroxyvitamin D 1alpha-hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  doi: 10.1073/pnas.131029498
  contributor:
    fullname: Panda
– ident: 10.1016/j.jsbmb.2004.03.026_BIB6
– volume: 94
  start-page: 9831
  issue: 18
  year: 1997
  ident: 10.1016/j.jsbmb.2004.03.026_BIB8
  article-title: Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  doi: 10.1073/pnas.94.18.9831
  contributor:
    fullname: Li
– volume: 16
  start-page: 391
  issue: 4
  year: 1997
  ident: 10.1016/j.jsbmb.2004.03.026_BIB9
  article-title: Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning
  publication-title: Nat. Genet.
  doi: 10.1038/ng0897-391
  contributor:
    fullname: Yoshizawa
– volume: 98
  start-page: 13324
  issue: 23
  year: 2001
  ident: 10.1016/j.jsbmb.2004.03.026_BIB10
  article-title: Duodenal calcium absorption in vitamin D receptor-knockout mice: functional and molecular aspects
  publication-title: Proc. Natl. Acad. Sci. U.S.A.
  doi: 10.1073/pnas.231474698
  contributor:
    fullname: Van Cromphaut
– volume: 99
  start-page: 26
  issue: 1
  year: 1981
  ident: 10.1016/j.jsbmb.2004.03.026_BIB5
  article-title: Vitamin D dependency: replacement therapy with calcitriol
  publication-title: J. Pediatr.
  doi: 10.1016/S0022-3476(81)80952-3
  contributor:
    fullname: Delvin
– volume: 20
  start-page: 156
  issue: 2
  year: 1999
  ident: 10.1016/j.jsbmb.2004.03.026_BIB7
  article-title: The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets
  publication-title: Endocr. Rev.
  doi: 10.1210/er.20.2.156
  contributor:
    fullname: Malloy
– volume: 289
  start-page: 817
  issue: 16
  year: 1973
  ident: 10.1016/j.jsbmb.2004.03.026_BIB2
  article-title: Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D
  publication-title: N. Engl. J. Med.
  doi: 10.1056/NEJM197310182891601
  contributor:
    fullname: Fraser
– volume: 18
  start-page: 637
  issue: 4
  year: 2003
  ident: 10.1016/j.jsbmb.2004.03.026_BIB12
  article-title: Rescue of the pseudo-vitamin D deficiency rickets phenotype of CYP27B1-deficient mice by treatment with 1,25-dihydroxyvitamin D3: biochemical, histomorphometric, and biomechanical analyses
  publication-title: J. Bone Miner Res.
  doi: 10.1359/jbmr.2003.18.4.637
  contributor:
    fullname: Dardenne
– volume: 142
  start-page: 3135
  issue: 7
  year: 2001
  ident: 10.1016/j.jsbmb.2004.03.026_BIB3
  article-title: Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)- hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets
  publication-title: Endocrinology
  doi: 10.1210/en.142.7.3135
  contributor:
    fullname: Dardenne
– volume: 14
  start-page: 620
  issue: 7
  year: 2000
  ident: 10.1016/j.jsbmb.2004.03.026_BIB1
  article-title: Human 25-hydroxyvitamin D-1alpha-hydroxylase: cloning, mutations, and gene expression
  publication-title: Pediatr. Nephrol.
  doi: 10.1007/PL00009639
  contributor:
    fullname: Portale
– volume: 140
  start-page: 4982
  issue: 11
  year: 1999
  ident: 10.1016/j.jsbmb.2004.03.026_BIB11
  article-title: Rescue of the skeletal phenotype of vitamin D receptor-ablated mice in the setting of normal mineral ion homeostasis: formal histomorphometric and biomechanical analyses
  publication-title: Endocrinology
  doi: 10.1210/en.140.11.4982
  contributor:
    fullname: Amling
– volume: 139
  start-page: 4391
  issue: 10
  year: 1998
  ident: 10.1016/j.jsbmb.2004.03.026_BIB13
  article-title: Normalization of mineral ion homeostasis by dietary means prevents hyperparathyroidism, rickets, and osteomalacia, but not alopecia in vitamin D receptor-ablated mice
  publication-title: Endocrinology
  doi: 10.1210/en.139.10.4391
  contributor:
    fullname: Li
SSID ssj0003317
Score 1.8750666
Snippet The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1; 1α-OHase) gene,...
The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1;...
SourceID proquest
crossref
pubmed
pascalfrancis
elsevier
SourceType Aggregation Database
Index Database
Publisher
StartPage 327
SubjectTerms 25-hydroxyvitamin D-1α-hydroxylase
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - physiology
Animals
Biological and medical sciences
Calcitriol - administration & dosage
CYP27B1
Fundamental and applied biological sciences. Psychology
Mice
Mice, Knockout
Phenotype
Rickets
Vertebrates: endocrinology
Vitamin D
Title Rescue of the phenotype of CYP27B1 (1α-hydroxylase)-deficient mice
URI https://dx.doi.org/10.1016/j.jsbmb.2004.03.026
https://www.ncbi.nlm.nih.gov/pubmed/15225794
https://search.proquest.com/docview/66666289
Volume 89
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT-MwEB7xOLASQrDsLuVRcuAAEt42sROnR4hAhRVoxUNiT5btONpWoq1oe-DCf-KP8JuYcZIFJNgDucWKleibaOYbezwfwE6kuczjPGRx7gomeFszE8uIdWybyyjHiGtoaeDsPOlei9Ob-GYGsvosDJVVVr6_9OneW1cjrQrN1qjXa10S-fb7SqIMhLMwj-GI9mrnD05-dc__OWTOvfAuPc9oQt18yJd59cfm1vg80Tc7pSYL7weoxZEeI2xFqXfxMSH1gel4GZYqRhkclB-9AjNu8BUWslrIbRWyCze2UxcMiwDZXkBFXUNaeaWB7M_vSB6GwW749Mj-3udU1IJ82u0xBLXnD0sGJFj_Da6Pj66yLqu0E5jlaTxh2vHQxakOtUkTgfmvs5wLXaQG842kY7hv7VYYY5BR5R0nRSLSCNmJMynex_w7zA2GA7cGgUmkNEYKK6wR1rbRjFp3rOPWRlymRQP2a8DUqGyRoerasb7y-JLYpVBtrhDfBiQ1qOqNpRU68f9PbL4xwcvLSJUQM_kGbNc2UQgx7XzogRtOxyqhC1PLBvwoTfVqLjo09Enrn_2qDfhSFvNQDeQmzE3upm4LecrENGH250PYrP7GZ78H5Q4
link.rule.ids 309,310,314,780,784,789,790,4502,23930,23931,24116,25140,27924,27925,45585,45679
linkProvider Elsevier
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT8MwDLaAHUBCiDfjtR44gES0tUmb7ggVaDw2IR4SnKIkTcWQ2Ca2HfhZ_BF-E07aApOAA701qtXoc2R_ThwbYC-QlKdh6pMwNRlhtCGJCnlAmrpBeZCix1V2a6DdiVp37Pw-vJ-CpLwLY9MqC9uf23RnrYuReoFmfdDt1m8s-XbnSix3hNNQQTbAcWlXjs4uWp1Pg0ypa7xrvydWoCw-5NK8nobqWbk40RU7tUUWfnZQ8wM5RNiyvN_F74TUOabTRVgoGKV3lE96CaZMbxlmk7KR2wok12aox8brZx6yPc8mdfXtzqsdSB6uAn7se_v--xt5fE1tUgvyaXNAENSuuyzp2Yb1q3B3enKbtEjRO4FoGocjIg31TRhLX6o4Yhj_Gk0pk1msMN6Imoq60m6ZUgoZVdo0nEUsDpCdGBXje0jXYKbX75kN8FTEuVKcaaYV07qBapSyqQ3VOqA8zqpwWAImBnmJDFHmjj0Jh69tdslEgwrEtwpRCaqY0LRAI_634O6ECr5-ZrsSYiRfhVqpE4EQ25MP2TP98VBE9sHQsgrruaq-yaJBQ5u0-d9Z1WC2ddu-FJdnnYstmMsTe2w-5DbMjF7GZgc5y0jtFmvyA2NA5ws
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=proceeding&rft.title=Journal+of+steroid+biochemistry+and+molecular+biology&rft.atitle=Rescue+of+the+phenotype+of+CYP27B1+%281%CE%B1-hydroxylase%29deficient+mice&rft.au=DARDENNE%2C+Olivier&rft.au=PRUD%27HOMME%2C+Jos%C3%A9e&rft.au=GLORIEUX%2C+Francis+H&rft.au=ST-ARNAUD%2C+Ren%C3%A9&rft.date=2004-05-01&rft.pub=Elsevier+Science&rft.issn=0960-0760&rft.eissn=1879-1220&rft.volume=89-90&rft.issue=1-5&rft.spage=327&rft.epage=330&rft_id=info:doi/10.1016%2Fj.jsbmb.2004.03.026&rft.externalDBID=n%2Fa&rft.externalDocID=15936888
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0960-0760&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0960-0760&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0960-0760&client=summon