Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
about
GATA3 haplo-insufficiency causes human HDR syndromeEos and pegasus, two members of the Ikaros family of proteins with distinct DNA binding activitiesThe RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factorMutations in IRX5 impair craniofacial development and germ cell migration via SDF1Expression and copy number analysis of TRPS1, EIF3S3 and MYC genes in breast and prostate cancerMolecular dissection of mesenchymal-epithelial interactions in the hair follicleGenetic background of supernumerary teethDiminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytesA molecular dissection of the repression circuitry of IkarosTrps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosisTrps1 plays a pivotal role downstream of Gdf5 signaling in promoting chondrogenesis and apoptosis of ATDC5 cellsThe Ikaros family protein Eos associates with C-terminal-binding protein corepressorsA whole genome Bayesian scan for adaptive genetic divergence in West African cattle.Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.Identification of the GATA factor TRPS1 as a repressor of the osteocalcin promoter.Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalitiesTrps1 functions downstream of Bmp7 in kidney development.A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case reportAssociation of TRPS1 gene with different EMT markers in ERα-positive and ERα-negative breast cancer.New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 geneThe gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancerGenotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.Ectodermal dysplasias: not only 'skin' deep.Dual role of the Trps1 transcription factor in dentin mineralization.Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes.Molecular-pathogenetic classification of genetic disorders of the skeleton.Haematopoietic cell-fate decisions, chromatin regulation and ikaros.Disorders caused by chromosome abnormalities.Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.Genetic variation in TRPS1 may regulate hip geometry as well as bone mineral densityRAD21 mutations cause a human cohesinopathyControl of mesenchymal lineage progression by microRNAs targeting skeletal gene regulators Trps1 and Runx2.Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice.Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutationA position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.Prognostic value of the trichorhinophalangeal syndrome-1 (TRPS-1), a GATA family transcription factor, in early-stage breast cancerUncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.Brachydactyly E: isolated or as a feature of a syndromeTransposon mutagenesis identifies genes that cooperate with mutant Pten in breast cancer progression.
P2860
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P2860
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
description
2000 nî lūn-bûn
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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name
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@ast
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@en
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@en-gb
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@nl
type
label
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@ast
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@en
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@en-gb
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@nl
prefLabel
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@ast
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@en
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@en-gb
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@nl
P2093
P2860
P3181
P356
P1433
P1476
Mutations in a new gene, encod ...... ino-phalangeal syndrome type I
@en
P2093
A Rosenthal
B Albrecht
B Horsthemke
D von Holtum
G Gillessen-Kaesbach
G Glöckner
H J Lüdecke
P Meinecke
P2860
P2888
P3181
P356
10.1038/71717
P407
P577
2000-01-01T00:00:00Z
P5875
P6179
1001907053