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ectodermal dysplasia
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HOXC13
Somatic tumors
AML
Tumor types germline
Cancer Syndrom
Translocation partner
NUP98
Name
homeo box C13
Chromosome banding
12q13.3
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
Clinical Trials
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NLRP1
Heterotypic interactions among NACHT domains: implications for regulation of innate immune responses.
Expression of NALP1 in cerebellar granule neurons stimulates apoptosis.
EDAR
Death receptor signaling giving life to ectodermal organs
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13
EDARADD
The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A
GJB6
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
MSX1
Transcriptional autorepression of Msx1 gene is mediated by interactions of Msx1 protein with a multi-protein transcriptional complex containing TATA-binding protein, Sp1 and cAMP-response-element-binding protein-binding protein (CBP/p300)
Msx1 antagonizes the myogenic activity of Pax3 in migrating limb muscle precursors
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
14-3-3 interacts with regulator of G protein signaling proteins and modulates their activity
KRT85
Sequences and differential expression of three novel human type-II hair keratins
HOXC13
The human HOX gene family
NFKBIA
Signal-induced ubiquitination of IkappaBalpha by the F-box protein Slimb/beta-TrCP
A cytokine-responsive IkappaB kinase that activates the transcription factor NF-kappaB
The kinase TAK1 can activate the NIK-I kappaB as well as the MAP kinase cascade in the IL-1 signalling pathway
I kappaB alpha physically interacts with a cytoskeleton-associated protein through its signal response domain
CDH3
Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library
Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity
P-Cadherin is a basal cell-specific epithelial marker that is not expressed in prostate cancer
IKBKG
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
I����B-���� controls the constitutive NF-����B target gene network and survival of ABC DLBCL
Selective inhibition of NF-kappaB activation by a peptide that blocks the interaction of NEMO with the IkappaB kinase complex
Use of cell permeable NBD peptides for suppression of inflammation
The future of peptide-based drugs
PKP1
Plakophilin 3--a novel cell-type-specific desmosomal plaque protein.
Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.
TP63
P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome
A skin microRNA promotes differentiation by repressing 'stemness'
miRNAs, 'stemness' and skin
Pathways
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Small cell lung cancer
Homo sapiens (human)
2 genes
Cytosolic DNA-sensing pathway
Homo sapiens (human)
2 genes
Chemokine signaling pathway
Homo sapiens (human)
2 genes
Apoptosis
Homo sapiens (human)
2 genes
Epstein-Barr virus infection
Homo sapiens (human)
2 genes
Definition
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