Medical Knowledge Cockpit orofacial cleft

TP63

Somatic tumors

HNSCC, DLBCL

Tumor types germline

NSCLC

Cancer Syndrom

Translocation partner

TBL1XR1

Name

tumor protein p63

Chromosome banding

3q28

Cancer molecular gen.

Mutation type

Mis, N, T

Other syndrome disease

associated with Hay-Wells syndrome, ADULT syndrome, ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC), acro-dermato-ungual-lacrimal-tooth syndrome, limb mammary syndrome, Rapp-Hodgkin syndrome, split hand-split foot malformation

SUMO1

• The ubiquitin-homology gene PIC1: characterization of mouse (Pic1) and human (UBL1) genes and pseudogenes
• Structure determination of the small ubiquitin-related modifier SUMO-1
• SUMO-1 modification of IkappaBalpha inhibits NF-kappaB activation
• Essential requirement for caspase-8/FLICE in the initiation of the Fas-induced apoptotic cascade
• Identification of three major sentrinization sites in PML

BMP4

• Dorsal differentiation of neural plate cells induced by BMP-mediated signals from epidermal ectoderm
• Molecular mechanisms regulating hair follicle development
• Lateral and axial signals involved in avian somite patterning: a role for BMP4
• Bone morphogenetic protein-2 causes commitment and differentiation in C3H10T1/2 and 3T3 cells
• Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse

• Fine mapping of the human bone morphogenetic protein-4 gene (BMP4) to chromosome 14q22-q23 by in situ hybridization
• Cloning and sequence of bone morphogenetic protein 4 (BMP-4) from a human placental cDNA library
• Structure and expression of Xenopus tropicalis BMP-2 and BMP-4 genes

MSX1

• Structure and sequence of the human homeobox gene HOX7
• The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome
• Nomenclature for human homeobox genes
• Hox-7, a mouse homeobox gene with a novel pattern of expression during embryogenesis

IRF6

• Variation in IRF6 contributes to nonsyndromic cleft lip and palate

TP63

• Immunohistochemical antibody cocktail staining (p63/HMWCK/AMACR) of ductal adenocarcinoma and Gleason pattern 4 cribriform and noncribriform acinar adenocarcinomas of the prostate
• Distinction of pulmonary small cell carcinoma from poorly differentiated squamous cell carcinoma: an immunohistochemical approach
• P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome

• sumoylation by ranbp2 regulates transcriptional repression
  species not specified one gene

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