Daniela Tiaki Uehara
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View article: Transcript imbalance from TENM4 exon skipping: effects on epilepsy and genetic pleiotropy
Transcript imbalance from TENM4 exon skipping: effects on epilepsy and genetic pleiotropy Open
TENM4 is a transmembrane protein belonging to the teneurin family. It is localized in neurons and oligodendrocytes, where it regulates oligodendrocytes maturation and myelination. While missense variants of TENM4 were reported to cause ess…
View article: Identification of a Biallelic Missense Variant in Gasdermin <scp>D</scp> ( <scp>c.823G > C, p.Asp275His</scp> ) in a Patient of Atypical <scp>Gorham‐Stout</scp> Disease in a Consanguineous Family
Identification of a Biallelic Missense Variant in Gasdermin <span>D</span> ( <span>c.823G > C, p.Asp275His</span> ) in a Patient of Atypical <span>Gorham‐Stout</span> Disease in a Consanguineous Family Open
Gorham–Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a so…
View article: Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation Open
Disease-causing mutations in a linkage-specific deubiquitylase provide insights into chromatin remodeling during embryogenesis.
View article: Regulation of human development by ubiquitin chain editing of chromatin remodelers
Regulation of human development by ubiquitin chain editing of chromatin remodelers Open
Embryonic development occurs through commitment of pluripotent stem cells to differentiation programs that require highly coordinated changes in gene expression. Chromatin remodeling of gene regulatory elements is a critical component of h…
View article: Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) Open
The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly…
View article: SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements Open
View article: A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family Open
Here we describe a novel missense variant in the KCNQ4 gene and a private duplication at 7q31.1 partially involving two genes (IMMP2L and DOCK4). Both mutations segregated with nonsyndromic hearing loss in a family with three affected indi…