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 :12081718
Publication Date : //

New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.


Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder exhibiting a wide clinical spectrum ranging from minimal anomalies to classic CCD. Mutations scattered throughout the entire CBFA1 gene have been related to this disorder. However, it seems that most of them affect the highly conserved Runt domain, abolishing the DNA-binding ability of this transcription factor. Moreover, no systematic effect has been found to relate the type of mutation to the severity of the clinical features. In this paper, we studied two unrelated patients with classic CCD. DNA analysis revealed two novel mutations and three undescribed polymorphisms. One of the substitutions was a missense mutation in the Q/A domain leading to the replacement of a polar residue by a nonpolar one (158 A --> T [Q53L]). The second was an uncommon heterozygous stop codon mutation (1565 G --> C [X522S]) which theoretically results in a longer protein with 23 additional amino acids. This is the first report of this type of mutation in CBFA1. We discuss the possible consequences of these mutant sequences, although no phenotype-genotype correlation could be established. Our findings expand the existing number of allelic variants in this pathology.

Authors : Machuca-Tzili L , Monroy-Jaramillo N , González-del Angel A , Kofman-Alfaro S ,

Related products :

Catalog number Product name Quantity
orb61216 AZD6244 Activating mutations in the BRAF gene, primarily at V600E, are associated with poorer outcomes in patients with papillary thyroid cancer. For research use only. 500 mg
29-978 Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutatio 0.05 mg
26-410 FAM20C belongs to the FAM20 family. FAM20C is a calcium-binding protein which may play a role in dentin mineralization. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Ra 0.05 mg
LF-PA50127 anti-CBFA1 , Rabbit polyclonal to CBFA1 , Isotype IgG, Host Rabbit 200 ul
28-226 Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy . Previously, some nAChR mutations have been described that are associated with additional neurological features such as 0.1 mg
28-714 Mutations in nAChRs are found in a rare form of nocturnal frontal lobe epilepsy . Previously, some nAChR mutations have been described that are associated with additional neurological features such as 0.1 mg
31-079 This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predi 0.1 mg
27-333 Slightly proximal to the Huntington disease locus, the human MSX1 gene is deleted in patients with Wolf-Hirschhorn syndrome. This gene is also called HOX7. The Msx family of vertebrate HOX genes was o 0.1 mg
PR-727 PC4_mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivator human, recombinant, E. coli 10µg
PR-727 PC4_mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivator human, recombinant, E. coli 10 µg
PR-727 PC4-mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivator human, recombinant, E. coli 10
PR-727 Proteins: PC4-mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivatorhuman, recombinant, E. coli 10
PR-727 PC4-mt (serine mutations) Positive Cofactor 4, serine mutations, Transcriptional Coactivatorhuman, recombinant, E. coli 10
SDU SDU Gene skeletal dysplasia (unspecified)
FNDC3A FND Gene frontonasal dysplasia
PRDM10 PRD Gene primary retinal dysplasia
ACE2 ACD Gene adrenocortical dysplasia homolog (mouse)
ARVD6 ARVD3 Gene arrhythmogenic right ventricular dysplasia 3
ARVD7 ARVD4 Gene arrhythmogenic right ventricular dysplasia 4
25-633 This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. SMNDC1 is a nuclear protein 0.05 mg
MRST MRSD Gene mental retardation-skeletal dysplasia
EED EEC1 Gene ectrodactyly, ectodermal dysplasia and cleft lip_palate syndrome 1
ATF1 ATD Gene asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)
EEF1A1 EEC2 Gene ectrodactyly, ectodermal dysplasia and cleft lip_palate syndrome 2
30-876 LCA5 is a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. This gene encodes a protein that is thought to be 0.05 mg


https://antibody-antibodies.com/ | https://gentaur.com/ | https://gen-script.com/ | https://diagenox.com/ | https://clonagen.com/ | http://gentaursearch.com/ | http://gentaurpub.com/ | https://gentaur-online.com/ | http://anti-anti-pdf.com/ | http://gentaur-worldwide.com/

 

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

Fax 0032 16 50 90 45
[email protected] | 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
[email protected] | 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
[email protected] | Gentaur | Gentaur

Gentaur GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: +49 0241 40 08 90 86, +49 0241 95 78 94 78, +49 0241 40 08 90 86
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
[email protected] | 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,
[email protected]

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
[email protected] | Gentaur | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






Gentaur Spain
tel:0911876558
[email protected] | 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: [email protected] | 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              

[email protected] | 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
[email protected] | Gentaur | Gentaur