NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
about
Lower urinary tract development and diseaseTemporal regulation of nuclear factor one occupancy by calcineurin/NFAT governs a voltage-sensitive developmental switch in late maturing neuronsGenes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.The transcription factor Nfix is essential for normal brain development.Nuclear factor I-A represses expression of the cell adhesion molecule L1Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolatesMiR-153 targets the nuclear factor-1 family and protects against teratogenic effects of ethanol exposure in fetal neural stem cells.Nuclear factor I and cerebellar granule neuron development: an intrinsic-extrinsic interplayNegative energy balance and hepatic gene expression patterns in high-yielding dairy cows during the early postpartum period: a global approach.DNA methylation profile dynamics of tissue-dependent and differentially methylated regions during mouse brain development.Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyriaPAX6 does not regulate Nfia and Nfib expression during neocortical development.New perspectives for the elucidation of genetic disordersNuclear factor one transcription factors: Divergent functions in developmental versus adult stem cell populations.Truncating mutation in NFIA causes brain malformation and urinary tract defects.Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.Mapping translocation breakpoints by next-generation sequencingGenetic and developmental basis for urinary tract obstruction.Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus CallosumChromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the LiteratureThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nuclear factor I genes regulate neuronal migration.CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genesExpression of nuclear factor one A and -B in the olfactory bulb.Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.Layer-specific chromatin accessibility landscapes reveal regulatory networks in adult mouse visual cortex.Cell-type-specific expression of NFIX in the developing and adult cerebellum.The molecular biology of pelvi-ureteric junction obstruction.Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate.Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the LiteratureDifferential neuronal and glial expression of nuclear factor I proteins in the cerebral cortex of adult mice.Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.Transcriptional regulation of ependymal cell maturation within the postnatal brain.Urinary tract anomalies associated with MTHFR gene polymorphism C677T in girls.Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1.Agenesis of the corpus callosum in California 1983-2003: a population-based study.
P2860
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P2860
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
description
2007 nî lūn-bûn
@nan
2007 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@ast
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@en
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@en-gb
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@nl
type
label
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@ast
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@en
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@en-gb
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@nl
altLabel
NFIA Haploinsufficiency Is Ass ...... rome and Urinary Tract Defects
@en
prefLabel
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@ast
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@en
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@en-gb
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@nl
P2093
P2860
P50
P1433
P1476
NFIA haploinsufficiency is ass ...... rome and urinary tract defects
@en
P2093
Alan L Shanske
Alexander G Bassuk
Anne Higgins
Annick Turbe-Doan
Ayesha Ahmad
Azra H Ligon
Benedict Rilliet
Bradley J Quade
Chantal Kelly
Christopher A Walsh
P2860
P356
10.1371/JOURNAL.PGEN.0030080
P407
P577
2007-05-25T00:00:00Z