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 :15731757
Publication Date : //

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.


We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor beta receptor in ten families with a newly described human phenotype that includes widespread perturbations in cardiovascular, craniofacial, neurocognitive and skeletal development. Despite evidence that receptors derived from selected mutated alleles cannot support TGFbeta signal propagation, cells derived from individuals heterozygous with respect to these mutations did not show altered kinetics of the acute phase response to administered ligand. Furthermore, tissues derived from affected individuals showed increased expression of both collagen and connective tissue growth factor, as well as nuclear enrichment of phosphorylated Smad2, indicative of increased TGFbeta signaling. These data definitively implicate perturbation of TGFbeta signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events.

Authors : Loeys Bart L , Chen Junji , Neptune Enid R , Judge Daniel P , Podowski Megan , Holm Tammy , Meyers Jennifer , Leitch Carmen C , Katsanis Nicholas , Sharifi Neda , Xu F Lauren , Myers Loretha A , Spevak Philip J , Cameron Duke E , De Backer Julie , Hellemans Jan , Chen Yan , Davis Elaine C , Webb Catherine L , Kress Wolfram , Coucke Paul , Rifkin Daniel B , De Paepe Anne M , Dietz Harry C ,

Related products :

Catalog number Product name Quantity
28-924 MEOX2 may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and_or skeletal abnormalities, in addition to neurovas 0.1 mg
28-925 MEOX2 may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and_or skeletal abnormalities, in addition to neurovas 0.1 mg
EIAAB06981 27 kDa craniofacial protein,Bcnt,Bucentaur,Cfdp,Cfdp1,Cp27,Craniofacial development protein 1,Mouse,Mus musculus,Protein Cp27
CSB-EL005272RA Rat Craniofacial development protein 1(CFDP1) ELISA kit 96T
CFHR1 CFDP1 Gene craniofacial development protein 1
CSB-EL005272BO Bovine Craniofacial development protein 1(CFDP1) ELISA kit 96T
CSB-EL005272HU Human Craniofacial development protein 1(CFDP1) ELISA kit 96T
CSB-EL005272CH Chicken Craniofacial development protein 1(CFDP1) ELISA kit 96T
CSB-EL005272RA Rat Craniofacial development protein 1(CFDP1) ELISA kit SpeciesRat 96T
CSB-EL005272MO Mouse Craniofacial development protein 1(CFDP1) ELISA kit 96T
29-561 MAT1A catalyzes the formation of S-adenosylmethionine from methionine and ATP. Methionine adenosyltransferase deficiency is caused by recessive and dominant mutations, the latter identified in autosom 0.1 mg
CSB-EL005272MO Mouse Craniofacial development protein 1(CFDP1) ELISA kit SpeciesMouse 96T
CSB-EL005272CH Chicken Craniofacial development protein 1(CFDP1) ELISA kit SpeciesChicken 96T
CSB-EL005272BO Bovine Craniofacial development protein 1(CFDP1) ELISA kit SpeciesBovine 96T
CSB-EL005272HU Human Craniofacial development protein 1(CFDP1) ELISA kit SpeciesHuman 96T
CFDP1_BOVIN ELISA Kit FOR Craniofacial development protein 1; organism: Bovine; gene name: CFDP1 96T
CFDP2_BOVIN ELISA Kit FOR Craniofacial development protein 2; organism: Bovine; gene name: CFDP2 96T
EIAAB06983 Bcnt,Bucentaur,Cfdp1,Craniofacial development protein 1,Rat,Rattus norvegicus
CFDP1_HUMAN ELISA Kit FOR Craniofacial development protein 1; organism: Human; gene name: CFDP1 96T
CFDP1_MOUSE ELISA Kit FOR Craniofacial development protein 1; organism: Mouse; gene name: Cfdp1 96T
EIAAB06984 BCNT,Bucentaur,CFDP1,Craniofacial development protein 1,Homo sapiens,Human
CSB-EL005272RA Rat craniofacial development protein 1 (CFDP1) ELISA kit, Species Rat, Sample Type serum, plasma 96T
EIAAB06982 BCNT,Bucentaur,CFDP1,Chicken,Craniofacial development protein 1,Gallus gallus
EIAAB06985 BCNT,Bos taurus,Bovine,CFDP2,Craniofacial development protein 2,p97 bucentaur protein
EIAAB06980 Bos taurus,Bovine,Bucentaur,CFDP1,Craniofacial development protein 1,h-type BCNT protein


 

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





GENTAUR Ltd.
Unicorn House, Station Cl
Hertfordshire, Potters Bar EN6 1TL
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur | 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
RIB 30004 00187 00010092253 10
BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG
IBAN FR76 3000 4001 8700 0100 9225 310
france@gentaur.com | Gentaur | 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

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 | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






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