Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :12189164
Publication Date : //

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.


Idiopathic hyperphosphatasia is an autosomal recessive bone disease characterized by deformities of long bones, kyphosis and acetabular protrusion, increasing in severity as affected children pass through adolescence. Biochemical and histological evidence indicate that there is extremely rapid bone turnover, with indices of both bone resorption and formation greatly increased. A genome-wide search, in a family with three children affected by idiopathic hyperphosphatasia, suggested linkage to a locus on the long arm of chromosome 8 (8q24). The gene TNFRSF11B encoding osteoprotegerin (OPG), which lies within this locus, was an obvious candidate, given the critical role of OPG in regulating osteoclast development. All three affected siblings were homozygous for a 3 bp inframe deletion in exon 3 of the TNFRSF11B gene, resulting in the loss of an aspartate residue. Their parents (who were first cousins) were heterozygous for the mutation. Recombinant wild-type and mutant OPG cDNAs were expressed in human epithelial kidney cells, and secreted OPG was collected from the conditioned medium. In vitro measurements of bone resorption showed that wild-type OPG suppressed bone resorption, whereas the mutant form did not, confirming this to be an inactivating mutation. This description of abnormal OPG function in humans expands the spectrum of genetic bone diseases arising from perturbations of the OPG/RANK-L/RANK system that regulates osteoclastogenesis.

Authors : Cundy Tim , Hegde Madhuri , Naot Dorit , Chong Belinda , King Alan , Wallace Robyn , Mulley John , Love Donald R , Seidel Joerg , Fawkner Matthew , Banovic Tatjana , Callon Karen E , Grey Andrew B , Reid Ian R , Middleton-Hardie Catherine A , Cornish Jillian ,

Related products :

Catalog number Product name Quantity
PA159 Osteoprotegerin _ TNFRSF11B 10 µg
AP06631PU-N Osteoprotegerin _ TNFRSF11B 100 µg
GTX10496 Osteoprotegerin _ TNFRSF11B 50 µg
KT015 Osteoprotegerin _ TNFRSF11B 96 Tests
GTX18068 Osteoprotegerin _ TNFRSF11B 25 µg
GTX18051 Osteoprotegerin _ TNFRSF11B 50 µg
GTX14049 Osteoprotegerin _ TNFRSF11B 50 µg
GTX11994 Osteoprotegerin _ TNFRSF11B 50 µg
GTX10962 Osteoprotegerin _ TNFRSF11B 25 µg
GTX10496 Osteoprotegerin _ TNFRSF11B 50 µg
GTX100560 Osteoprotegerin _ TNFRSF11B 100 µl
MC332 Osteoprotegerin _ TNFRSF11B 0.1 mg
GTX100560 Osteoprotegerin _ TNFRSF11B 100 µl
DM2018 Osteoprotegerin _ TNFRSF11B 0.1 mg
DM2018 Osteoprotegerin _ TNFRSF11B 0.1 mg
DM2005 Osteoprotegerin _ TNFRSF11B 0.1 mg
GTX10962 Osteoprotegerin _ TNFRSF11B 25 µg
PA159X Osteoprotegerin _ TNFRSF11B 50 µg
PP1107B1 Osteoprotegerin _ TNFRSF11B 25 µg
PP1107B2 Osteoprotegerin _ TNFRSF11B 50 µg
PP1107P2 Osteoprotegerin _ TNFRSF11B 0.1 mg
PR27029-10 Osteoprotegerin _ TNFRSF11B 10 µg
PR27029-50 Osteoprotegerin _ TNFRSF11B 50 µg
MC332 Osteoprotegerin _ TNFRSF11B 0.1 mg
SM7070P Osteoprotegerin _ TNFRSF11B 0.1 mg


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur