Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

scientific article (publication date: 15 October 1999)

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/S0092-8674(00)81646-3
P3181OpenCitations bibliographic resource ID1249086
P698PubMed publication ID10535733

P50authorHans van BokhovenQ28324459
Pascal DuijfQ61086127
P2093author name stringH G Brunner
D A Haber
A P Smits
B C Hamel
M Bamshad
A van Haeringen
A Yang
F McKeon
R de Waal
J Celli
R C Hennekam
G Van Buggenhout
G Vriend
B Kramer
A J van Essen
C G Woods
R Newbury-Ecob
P2860cites workp63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activitiesQ22003973
A new human p53 homologueQ24314918
Cloning and functional analysis of human p51, which structurally and functionally resembles p53Q24314965
The relation between the divergence of sequence and structure in proteinsQ24531519
Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysisQ72081702
Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19Q24538677
Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutationsQ27730815
WHAT IF: a molecular modeling and drug design programQ27860734
A comprehensive genetic map of the human genome based on 5,264 microsatellitesQ27860812
p53, the cellular gatekeeper for growth and divisionQ27860990
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactylyQ28242341
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb developmentQ28285880
p53 mutations in human cancersQ28302973
Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdacQ28513753
p63 is essential for regenerative proliferation in limb, craniofacial and epithelial developmentQ28587664
p63 is a p53 homologue required for limb and epidermal morphogenesisQ28588206
Database of homology-derived protein structures and the structural meaning of sequence alignmentQ29614393
Monoallelically expressed gene related to p53 at 1p36, a region frequently deleted in neuroblastoma and other human cancersQ29616471
p53: puzzle and paradigmQ29618407
IARC Database of p53 gene mutations in human tumors and cell lines: updated compilation, revised formats and new visualisation toolsQ30429006
Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features.Q30432624
An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.Q33595589
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25Q33678102
Clonal expansion of p53 mutant cells is associated with brain tumour progressionQ34233614
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27Q34388906
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].Q34734189
Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reactionQ34993293
Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).Q39400801
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.Q39419615
Pathogenesis of ectrodactyly in the Dactylaplasia mouse: aberrant cell death of the apical ectodermal ridgeQ39457612
A comparison of the biological activities of wild-type and mutant p53.Q40831456
Limb mutants: what can they tell us about normal limb development?Q41601012
A second p53-related protein, p73L, with high homology to p73.Q47688717
A novel protein with strong homology to the tumor suppressor p53.Q48044761
X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred.Q52088295
The use of position-specific rotamers in model building by homologyQ71267503
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7pQ71996161
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectectrodactyly–ectodermal dysplasia–cleft syndromeQ5334319
heterozygosityQ124059385
P304page(s)143-153
P577publication date1999-10-01
P1433published inCellQ655814
P1476titleHeterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
P478volume99

Reverse relations

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Q24672616Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype
Q35562528Special AT-rich binding protein-2 (SATB2) differentially affects disease-causing p63 mutant proteins
Q34230565Split hand foot malformation is associated with a reduced level of Dactylin gene expression
Q42281084Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder
Q50493099Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.
Q38222736Split-hand/feet malformation in three tamilian families and review of the reports from India.
Q34141916Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
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Q24632741Splitting p63
Q24530741Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population
Q27668032Structural basis of p63α SAM domain mutants involved in AEC syndrome
Q48875118Studies of genes involved in craniofacial development and tumorigenesis: FGF3 contributes to isolated oral clefts and may interact with PAX9.
Q46534505Surgical treatment options for squamous cell carcinoma of the oral cavity
Q30394234Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.
Q42487471TA-p63-gamma regulates expression of DeltaN-p63 in a manner that is sensitive to p53.
Q33866001TAp63 is a transcriptional target of NF-kappaB.
Q24618256TAp63 prevents premature aging by promoting adult stem cell maintenance
Q38325201TAp63alpha induces apoptosis by activating signaling via death receptors and mitochondria
Q38333551TAp63gamma can substitute for p53 in inducing expression of the maspin tumor suppressor.
Q35078717TP53 family members and human cancers
Q55670364TP63 gene mutation in ADULT syndrome
Q24298312Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation
Q34784078The Delta Np63 alpha phosphoprotein binds the p21 and 14-3-3 sigma promoters in vivo and has transcriptional repressor activity that is reduced by Hay-Wells syndrome-derived mutations
Q36980923The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.
Q37741331The Pu.1 target gene Zbtb11 regulates neutrophil development through its integrase-like HHCC zinc finger.
Q52551652The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.
Q34999137The carboxy-terminus of p63 links cell cycle control and the proliferative potential of epidermal progenitor cells
Q37383066The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models
Q41999096The expression of p63 is associated with the differential stage in nasopharyngeal carcinoma and EBV infection
Q24645732The first 30 years of p53: growing ever more complex
Q40767774The human MDM2 oncoprotein increases the transcriptional activity and the protein level of the p53 homolog p63.
Q33849403The origins and evolution of the p53 family of genes
Q24291822The p53 family member genes are involved in the Notch signal pathway
Q33298587The p53 tumor suppressor-like protein nvp63 mediates selective germ cell death in the sea anemone Nematostella vectensis
Q24679311The p63 gene in EEC and other syndromes
Q104739498The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders
Q38364407The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle
Q33899455The role of p53 gene family in reproduction
Q34283469The role of p53 in human cancer
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Q37705212To grow or not to grow: hair morphogenesis and human genetic hair disorders
Q28076789Tooth agenesis and orofacial clefting: genetic brothers in arms?
Q91724667Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders
Q37885627Tp63 in oral development, neoplasia, and autoimmunity
Q34100529Tracing the protectors path from the germ line to the genome
Q38851310Two case reports with literature review of the EEC syndrome: Clinical presentation and management
Q47194658Update on 13 Syndromes Affecting Craniofacial and Dental Structures
Q35215447While p73 is essential, p63 is completely dispensable for the development of the central nervous system
Q43997054Zebrafish DeltaNp63 is a direct target of Bmp signaling and encodes a transcriptional repressor blocking neural specification in the ventral ectoderm
Q34014685Zebrafish models of p53 functions
Q74031248[Congenital malformations: cleft lip and/or palate]
Q40407383p300 regulates p63 transcriptional activity
Q73934817p51A (TAp63gamma), a p53 homolog, accumulates in response to DNA damage for cell regulation
Q42509836p53 Homologue p63 represses epidermal growth factor receptor expression.
Q34313764p53 Research: the past thirty years and the next thirty years.
Q34106545p53 associates with and targets Delta Np63 into a protein degradation pathway
Q39918840p53 family members regulate the expression of the apolipoprotein D gene.
Q42507106p53 homologue, p51/p63, maintains the immaturity of keratinocyte stem cells by inhibiting Notch1 activity
Q34515770p53, p63 and p73--solos, alliances and feuds among family members
Q37727778p53-family proteins and their regulators: hubs and spokes in tumor suppression
Q36443527p53/p63/p73 isoforms: an orchestra of isoforms to harmonise cell differentiation and response to stress.
Q33933714p53CP is p51/p63, the third member of the p53 gene family: partial purification and characterization
Q28510602p63 Coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract
Q42539520p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
Q34483460p63 and epithelial biology
Q34080237p63 and p73, the ancestors of p53.
Q30595453p63 and p73: old members of a new family
Q92522548p63 cooperates with CTCF to modulate chromatin architecture in skin keratinocytes
Q64076970p63 establishes epithelial enhancers at critical craniofacial development genes
Q42435899p63 expression in normal human epidermis and epidermal appendages and their tumors
Q47997667p63 expression in sclerosing mucoepidermoid carcinomas with eosinophilia arising in the thyroid
Q79346035p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly
Q34707172p63 identifies keratinocyte stem cells
Q53387210p63 immunoreactivity in lung cancer: yet another player in the development of squamous cell carcinomas?
Q34058121p63 in skin development and ectodermal dysplasias
Q35227440p63 is a suppressor of tumorigenesis and metastasis interacting with mutant p53.
Q36183728p63 threonine phosphorylation signals the interaction with the WW domain of the E3 ligase Itch
Q33576855p63 transcriptionally regulates the expression of matrix metallopeptidase 13.
Q80632579p63(TP63) elicits strong trans-activation of the MFG-E8/lactadherin/BA46 gene through interactions between the TA and DeltaN isoforms
Q37862578p63, a story of mice and men.
Q34104031p63.
Q28190562p63α Mutations Lead to Aberrant Splicing of Keratinocyte Growth Factor Receptor in the Hay-Wells Syndrome
Q28590574p73 and p63 protein stability: the way to regulate function?
Q44633578p73 can suppress the proliferation of cells that express mutant p53.
Q40744181p73 is expressed in human thymic epithelial cells
Q36306728p73, a sophisticated p53 family member in the cancer world
Q64062966ΔNp63 in squamous cell carcinoma: defining the oncogenic routes affecting epigenetic landscape and tumour microenvironment
Q36963424ΔNp63α Silences a miRNA Program to Aberrantly Initiate a Wound-Healing Program That Promotes TGFβ-Induced Metastasis
Q35897788ΔNp63α Transcriptionally Regulates the Expression of CTEN That Is Associated with Prostate Cell Adhesion
Q36179548ΔNp63α activates CD82 metastasis suppressor to inhibit cancer cell invasion
Q41958633ΔNp63α is an oncogene that targets chromatin remodeler Lsh to drive skin stem cell proliferation and tumorigenesis
Q37656142ΔNp63α regulates Erk signaling via MKP3 to inhibit cancer metastasis

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