transcription factor TBX1 also known as T-box protein 1 and testis-specific T-box protein is a protein that in humans is encoded by the TBX1 gene. Genes in...

of the signs and symptoms. Haploinsufficiency of the TBX1 gene (T-box transcription factor TBX1) is thought to be the cause of some of the symptoms observed...

genes, TBX1, CRKL, GATA3, GCM2, and SOX3 have also been shown to play a crucial role in the formation of the parathyroid gland. Mutations in TBX1 and CRKL...

velocardiofacial syndromes. Similarly, the mutations in the TBX1 genome exhibit the same symptoms. The TBX1 haploinsufficiency is responsible for many of the traits...

have shorter deletions in the same region. The loss of one particular gene, TBX1, is thought to be responsible for many of the characteristic features of...

similar to the features present in Holt-Oram syndrome. Another T-box gene, TBX1, is involved in velo-cardio-facial syndrome DiGeorge syndrome, the most common...

ENSG00000136535 T-box Known motif – High-throughput in vitro [898] TTCACACCT TBX1 ENSG00000184058 T-box Known motif – High-throughput in vitro [899] TCACACCT...

TOF cases. TBX1 expresses progenitors involved with the development of the right ventricle. Chromosome 22q11 deletions also deleting TBX1 gene have been...

body. This development may be regulated by the genes EYA1, SIX1, GATA3, and TBX1. The organ of Corti develops inside the cochlear duct. The cochlear duct...

GINS1 deficiency DiGeorge syndrome (when associated with thymic defects) TBX1 deficiency CHARGE syndrome (CHD7 deficiency or SEMA3E deficiency) Winged...

genes, TBX1, CRKL, GATA3, GCM2, and SOX3 have also been shown to play a crucial role in the formation of the parathyroid gland. Mutations in TBX1 and CRKL...

C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A (March 2007). "Human TBX1 missense mutations cause gain of function resulting in the same phenotype...

are regulated by the transcription factors (Hoxa3, Pax1/9, Eya1, Six1/4, Tbx1), most of which are in postnatal cTEC and immature TECs. The most important...

T-box proteins include: TBXT (TBXT) the first found (in mice) TBR1 (TBR1) TBX1 (TBX1) TBX2 (TBX2) TBX3 (TBX3) TBX4 (TBX4) TBX5 (TBX5) TBX6 (TBX6) TBX10 (TBX10)...

Meltzer, PS; Kraemer, KH (2013). "Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair...

Q16650 16390 TBRG1 HGNC:29551 Q3YBR2 16391 TBRG4 HGNC:17443 Q969Z0 16392 TBX1 HGNC:11592 O43435 16393 TBX2 HGNC:11597 Q13207 16394 TBX3 HGNC:11602 O15119...

Patients with these syndromes exhibit a variety of symptoms because the genes TBX1 and CHD7, which are linked to these specific disorders, are involved in the...

Velocardiofacial syndrome (ARVCF), Cathechol-O-methyltransferase (COMT) and T-box 1 (TBX1). The promoter for the C22orf25 gene spans 687 base pairs from 20,008,092...

mutation in the FGF8 gene which reduces the binding affinity of FGF8. Loss of Tbx1 and Tfap2 can result in proliferation and apoptosis in the palate cells increasing...

regulate the expression of key signaling molecules such as Fgf8, Fgf10, Tbx1, Isl1, and Bmp4. Mutations in this gene cause various glaucoma phenotypes...

Conjunctivitis, ligneous; 217090; PLG Conotruncal anomaly face syndrome; 217095; TBX1 Contractural arachnodactyly, congenital; 121050; FBN2 Convulsions, benign...

are grouped into five subfamilies, namely Brachyury (T), T-brain (Tbr1), TBX1, TBX2, and TBX6. Tbx3 is a member of the Tbx2 subfamily which includes Tbx2...

"Fibroblast growth factor 10 gene regulation in the second heart field by Tbx1, Nkx2-5, and Islet1 reveals a genetic switch for down-regulation in the myocardium"...

"Differential DNA binding and transcription modulation by three T-box proteins, T, TBX1 and TBX2". Gene. 258 (1–2): 15–29. doi:10.1016/S0378-1119(00)00417-0. PMID 11111039...