Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
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The RING finger protein RNF4, a co-regulator of transcription, interacts with the TRPS1 transcription factorExpression and copy number analysis of TRPS1, EIF3S3 and MYC genes in breast and prostate cancerTrps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosisRubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literatureIdentification of the GATA factor TRPS1 as a repressor of the osteocalcin promoter.Molecular profiling of the developing mouse axial skeleton: a role for Tgfbr2 in the development of the intervertebral disc.A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case reportNew case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 geneGenetic disorders of the skeleton: a developmental approachThe gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancerA novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.Madarosis: a marker of many maladiesA central role for TRPS1 in the control of cell cycle and cancer development.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.Disorders caused by chromosome abnormalities.Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis.A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome.Brachydactyly E: isolated or as a feature of a syndromeExome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I.To grow or not to grow: hair morphogenesis and human genetic hair disordersTrichorhinophalangeal syndrome type 1: A case report with literature review.Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition.The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression.Conditions simulating androgenetic alopecia.Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report.Transcriptional repression and developmental functions of the atypical vertebrate GATA protein TRPS1.High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective.Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I.Identification of a new mutation in TRPS1 gene leading to tricho-rhino-phalangeal syndrome I in a Chinese patient.Expression and relevance of TRPS-1: a new GATA transcription factor in breast cancer.TRPS1 gene alterations in human subependymoma.A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho-rhino-phalangeal syndrome type I.
P2860
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P2860
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
description
2000 nî lūn-bûn
@nan
2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
@ast
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
@en
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
@nl
type
label
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
@ast
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
@en
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
@nl
prefLabel
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
@ast
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
@en
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
@nl
P2093
P2860
P356
P1476
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
@en
P2093
A Forderer
B Albrecht
B Horsthemke
E Fastnacht
F Majewski
P2860
P356
10.1086/316926
P407
P577
2000-12-07T00:00:00Z