Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in
a subset of these human helicase genes, pathogenic variation causes neurodevelopmental …
a subset of these human helicase genes, pathogenic variation causes neurodevelopmental …
Destabilization of mutated human PUS3 protein causes intellectual disability
TY Lin, R Smigiel, B Kuzniewska… - Human …, 2022 - Wiley Online Library
Pseudouridine (Ψ) is an RNA base modification ubiquitously found in many types of RNAs.
In humans, the isomerization of uridine is catalyzed by different stand‐alone pseudouridine …
In humans, the isomerization of uridine is catalyzed by different stand‐alone pseudouridine …
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders
GC Tolezano, GC Bastos, SS da Costa, MO Scliar… - Molecular …, 2024 - Springer
Microcephaly is characterized by an occipitofrontal circumference at least two standard
deviations below the mean for age and sex. Neurodevelopmental disorders (NDD) are …
deviations below the mean for age and sex. Neurodevelopmental disorders (NDD) are …
Biallelic mutation of SUPV3L1 causes an inherited leukodystrophy-associated neurodevelopmental disorder due to aberrant mitochondrial double stranded RNA …
L Green, N Hamilton, M Elpidorou, EL Harris… - medRxiv, 2023 - medrxiv.org
Inherited white matter disorders (IWMD), or leukodystrophies (LD), are genetic disorders
primarily affecting the white matter of the central nervous system (CNS), with or without …
primarily affecting the white matter of the central nervous system (CNS), with or without …
Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability
Saima, A Khan, S Ali, J Jiang, Z Miao, A Kamil… - Neurogenetics, 2024 - Springer
Primary microcephaly is a rare neurogenic and genetically heterogeneous disorder
characterized by significant brain size reduction that results in numerous …
characterized by significant brain size reduction that results in numerous …
Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study
J Liu, Q Liu, J Zhao, S Lin, Y Zhou - … Journal of Obstetrics & Gynecology and …, 2024 - Elsevier
Objectives: To comprehensively evaluate the contributions of numerical chromosomal
abnormality, copy number variant (CNV), and sequence variant (SV) to fetuses with small …
abnormality, copy number variant (CNV), and sequence variant (SV) to fetuses with small …
Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly
S Luo, L Ren, R Wang, J Hu, W Wei, Y Feng, S Huang - Heliyon, 2024 - cell.com
Abstract Autosomal Recurrent Primary Microscopic (MCPH, OMIM: 251200) is a
neurodevelopmental disorder that is characterized by a noticeable decrease in brain size …
neurodevelopmental disorder that is characterized by a noticeable decrease in brain size …
Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family
Background Primary autosomal recessive microcephaly (MCPH) is a rare developmental
disorder characterized by cognitive impairment, delayed neurodevelopment, and reduced …
disorder characterized by cognitive impairment, delayed neurodevelopment, and reduced …
Molecular genetic analysis of newborns with congenital microcephaly
C Ye, H Mei, H Chen, X Dong, Y Lu, B Wu, H Wang… - Neonatology, 2022 - karger.com
Introduction: Data on the genetic landscape of congenital microcephaly (CM) in China are
scarce, and the incidence of CM caused by the most commonly mutated gene ASPM in …
scarce, and the incidence of CM caused by the most commonly mutated gene ASPM in …
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling
KA Chapman, F Ullah, ZA Yahiku, SV Kodiparthi… - medRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Transmembrane protein 184B (TMEM184B) is an endosomal 7-pass transmembrane
protein with evolutionarily conserved roles in synaptic structure and axon degeneration. We …
protein with evolutionarily conserved roles in synaptic structure and axon degeneration. We …