Cargando…

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

Microcephaly is a fairly common feature observed in children with delayed development, defined as head circumference less than 2 standard deviations below the mean for age and gender. It may be the result of an acquired insult to the brain, such prenatal or perinatal brain injury (congenital infecti...

Descripción completa

Detalles Bibliográficos
Autores principales:	Narayanan, Mohan, Ramsey, Keri, Grebe, Theresa, Schrauwen, Isabelle, Szelinger, Szabolcs, Huentelman, Matthew, Craig, David, Narayanan, Vinodh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	F1000Research 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617320/ https://www.ncbi.nlm.nih.gov/pubmed/26535115 http://dx.doi.org/10.12688/f1000research.7106.1

Ejemplares similares

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations
por: Ramsey, Keri, et al.
Publicado: (2022)

Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing
por: Szelinger, Szabolcs, et al.
Publicado: (2014)

Different mechanisms in periventricular and deep white matter hyperintensities in old subjects
por: Cai, Jinsong, et al.
Publicado: (2022)

Periventricular Hyperintensities Mimicking Multiple Sclerosis
por: Saleem, Sidra, et al.
Publicado: (2019)

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome
por: Schrauwen, Isabelle, et al.
Publicado: (2015)

Periventricular white matter hyperintensities are associated with gait and balance in patients with minor stroke
por: Su, Chen, et al.
Publicado: (2022)

Greater periventricular white matter hyperintensity severity in basilar artery branch atheromatous disease
por: Lin, Po-Chen, et al.
Publicado: (2017)

Differential Impact of Plasma Homocysteine Levels on the Periventricular and Subcortical White Matter Hyperintensities on the Brain
por: Lee, Kee Ook, et al.
Publicado: (2019)

Periventricular White Matter Hyperintensity in Males is Associated with Post-Stroke Depression Onset at 3 Months
por: Tu, Xuan-qiang, et al.
Publicado: (2021)

TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys
por: Stern, Eve, et al.
Publicado: (2022)

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
por: Moskowitz, Abby M., et al.
Publicado: (2016)

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability
por: Banuelos, Erika, et al.
Publicado: (2017)

Microvessel stenosis, enlarged perivascular spaces, and fibrinogen deposition are associated with ischemic periventricular white matter hyperintensities
por: Roseborough, Austyn D., et al.
Publicado: (2021)

Application of Periventricular White Matter Hyperintensities Combined with Homocysteine into Predicting Mild Cognitive Impairment in Parkinson’s Disease
por: Zhang, Zuowen, et al.
Publicado: (2023)

A multiphysics model to predict periventricular white matter hyperintensity growth during healthy brain aging
por: Caçoilo, Andreia, et al.
Publicado: (2023)

Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2
por: Jepsen, Wayne M., et al.
Publicado: (2019)

Peripheral (deep) but not periventricular MRI white matter hyperintensities are increased in clinical vascular dementia compared to Alzheimer's disease
por: Smith, Charles D., et al.
Publicado: (2016)

Increased interstitial fluid in periventricular and deep white matter hyperintensities in patients with suspected idiopathic normal pressure hydrocephalus
por: Rau, Alexander, et al.
Publicado: (2021)

Periventricular rather than deep white matter hyperintensities mediate effects of hypertension on cognitive performance in the population-based 1000BRAINS study
por: Gronewold, Janine, et al.
Publicado: (2022)

A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits
por: Guzmán, Yomayra F., et al.
Publicado: (2017)

Nodal Global Efficiency in Front-Parietal Lobe Mediated Periventricular White Matter Hyperintensity (PWMH)-Related Cognitive Impairment
por: Chen, Haifeng, et al.
Publicado: (2019)

Differential Effects of Serum Lipoprotein-Associated Phospholipase A2 on Periventricular and Deep Subcortical White Matter Hyperintensity in Brain
por: Jiang, Junying, et al.
Publicado: (2021)

tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans
por: Igoillo-Esteve, Mariana, et al.
Publicado: (2013)

Peripheral inflammatory markers indicate microstructural damage within periventricular white matter hyperintensities in Alzheimer's disease: A preliminary report
por: Swardfager, Walter, et al.
Publicado: (2017)

3D finite-element brain modeling of lateral ventricular wall loading to rationalize periventricular white matter hyperintensity locations
por: Caçoilo, Andreia, et al.
Publicado: (2022)

Segmentation and differentiation of periventricular and deep white matter hyperintensities in 2D T2-FLAIR MRI based on a cascade U-net
por: Gong, Tan, et al.
Publicado: (2022)

tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
por: Yew, T. W., et al.
Publicado: (2016)

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1
por: Szelinger, Szabolcs, et al.
Publicado: (2020)

Functional characterization of the human tRNA methyltransferases TRMT10A and TRMT10B
por: Vilardo, Elisa, et al.
Publicado: (2020)

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders
por: Frankel, Eric, et al.
Publicado: (2023)

Distinct substrate specificities of the human tRNA methyltransferases TRMT10A and TRMT10B
por: Howell, Nathan W., et al.
Publicado: (2019)

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia
por: De Angelis, Carla, et al.
Publicado: (2021)

Age-Related Frontal Periventricular White Matter Hyperintensities and miR-92a-3p Are Associated with Early-Onset Post-Stroke Depression
por: He, Ji-Rong, et al.
Publicado: (2017)

Primary microcephaly caused by novel compound heterozygous mutations in ASPM
por: Okamoto, Nobuhiko, et al.
Publicado: (2018)

tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly
por: Lin, Hu, et al.
Publicado: (2020)

A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching
por: Kelly, Carolyn M., et al.
Publicado: (2021)

Periventricular white matter changes in idiopathic intracranial hypertension
por: Sarica, Alessia, et al.
Publicado: (2019)

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
por: Rosenhahn, Erik, et al.
Publicado: (2022)

Predicted disconnectome associated with progressive periventricular white matter ischemia
por: Li, Zhengjun, et al.
Publicado: (2021)

Relative risk values of age, acrolein, IL-6 and CRP as markers of periventricular hyperintensities: a cross-sectional study
por: Abe, Arata, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_vmaje5bofnrqq3m2cjqc7jij83