Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes

scientific article published on December 1993

Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes is …
instance of (P31):
scholarly articleQ13442814

External links are
P819ADS bibcode1993PNAS...9012025M
P356DOI10.1073/PNAS.90.24.12025
P932PMC publication ID48118
P698PubMed publication ID8265665
P5875ResearchGate publication ID14932958

P2093author name stringT L Yang-Feng
B R Migeon
J Axelman
P A Jacobs
D L Van Dyke
L Weiss
M Jani
S Luo
B A Stasiowski
J E Wiley
P2860cites workSingle-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform ExtractionQ25938986
The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleusQ29614336
The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleusQ29617834
Fluorescence in situ hybridization of YAC clones after Alu-PCR amplificationQ33230932
Asynchronous replication of homologous loci on human active and inactive X chromosomesQ33579193
Three patients with ring (X) chromosomes and a severe phenotypeQ33595450
Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome.Q34106822
Sex chromatin and gene action in the mammalian X-chromosomeQ34263110
Quantitation of mRNA by the polymerase chain reactionQ34324828
HUMAN SEX CHROMOSOME ABNORMALITIES IN RELATION TO DNA REPLICATION AND HETEROCHROMATINIZATION.Q34391429
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosomeQ35009254
Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defectQ35197526
Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardationQ35442921
Mammalian X-chromosome inactivation and the XIST geneQ35716524
The Barr body is a looped X chromosome formed by telomere associationQ37548641
2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genesQ41534996
Mental retardation in Turner syndromeQ43762778
Expression of the X-inactivation-associated gene XIST during spermatogenesis.Q44819685
Characterization of a murine gene expressed from the inactive X chromosomeQ48225149
45X/46X,r(X) with syndactyly and severe mental retardation.Q52073299
X inactivation in mammalian testis is correlated with inactive X-specific transcriptionQ67512526
Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypesQ67754376
The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expressionQ72863039
P433issue24
P407language of work or nameEnglishQ1860
P304page(s)12025-12029
P577publication date1993-12-01
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleDeficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes
P478volume90

Reverse relations

cites work (P2860)
Q33682802A familial Xp+ chromosome, dup (Xq26.3-->qter).
Q35208602A review of neuropsychological and motor studies in Turner Syndrome.
Q37960281Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated
Q33682964Cytogenetic and molecular findings in patients with Turner's syndrome stigmata
Q51930222Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.
Q33683279Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis
Q41115375In vivo ultraviolet and dimethyl sulfate footprinting of the 5' region of the expressed and silent Xist alleles
Q38492545Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression
Q35882389Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis
Q42508007MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
Q38010219Marker chromosomes
Q33675752Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation
Q36324342New issues in the diagnosis and management of Turner syndrome
Q52001442Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.
Q35661042Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease
Q77384589Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome
Q33681535Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study
Q41524734Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature
Q35889263Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations
Q35889666The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation
Q33680960Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes
Q41127095X chromosome inactivation and X-linked mental retardation
Q37873373X-chromosome inactivation: molecular mechanisms from the human perspective
Q24672147XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure
Q49074365XIST expression is repressed when X inactivation is reversed in human placental cells: A model for study ofXIST regulation
Q38695863Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features