Syndromic causes of inner ear anomalies Syndrome Clinical features Gene involved Waardenburg Auditory-pigmentary syndrome
PAX3, MITF, characterized by pigmentary SOX10, EDN3, abnormalities of the hair, SLUG including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; and congenital sensorineural hearing loss.
Subsequent transcriptome analysis performed on 1 of the tumors with a t(2;4) translocation revealed a fusion transcript of exons 1 to 7 of
PAX3 on chromosome 2, to exons 2 to 5 of MAML3 on chromosome 4.
Inhibition of
PAX3 by TGF-[beta] modulates melanocyte viability.
Beta catenin-independent activation of MyoD in presomitic mesoderm requires PKC and depends on
Pax3 transcriptional activity.
One such example is a chimeric PAX3-FOXO1 transcript which is formed through joining the DNA-binding domain of
PAX3 to the transactivation domain of FOXO1 [52].
Emanuel, "Rearrangement of the
PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma," Nature Genetics, vol.
These include Lrp6 and Wnt5a [313], Zac1 and Suz12 [314], Hira and
Pax3 [315], Rybp encompassing Ring1 and YYP1 [316], and haploinsufficiency of the components in the primary cilium of the hedgehog pathway [317].
Ambos estados y el proceso de cambio entre ambos es regulado por factores reguladores intrinsecos celulares: unos positivos, como Krox20, Sox10 y Oct6, los cuales aseguran la mielinizacion de nervios el tiempo adecuado durante el desarrollo y restablecen la funcion de las celulas de Schwann despues de la lesion, y otros negativos, como c-Jun, Sox2, Notch, Krox24 y
Pax3, los cuales conducen al proceso de dediferenciacion y desmielinizacion, al bloquear la normal induccion de mielinizacion por parte de la adenosina monofostato ciclico.
Functional interaction between Foxd3 and
Pax3 in cardiac neural crest development.
Some studies have shown t (2; 8) (q35; q13) translocation, which involves
PAX3, and t (4;22) (q35;q12), which involved EWSR1.