Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes
Abstract Cyclin D2 (CCND2) is a critical cell cycle regulator and key member of the cyclin D2‐
CDK4 (DC) complex. De novo variants of CCND2 clustering in the distal part of the protein …
CDK4 (DC) complex. De novo variants of CCND2 clustering in the distal part of the protein …
Burden of rare copy number variants in microcephaly: A brazilian cohort of 185 microcephalic patients and review of the literature
GC Tolezano, GC Bastos, SS da Costa… - Journal of Autism and …, 2024 - Springer
Microcephaly presents heterogeneous genetic etiology linked to several
neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal …
neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal …
Modeling PTEN overexpression-induced microcephaly in human brain organoids
The phosphatase and tensin homolog (PTEN) protein, encoded by the PTEN gene on
chromosome 10, is a negative regulator of the phosphoinositide 3-kinase (PI3K) signaling …
chromosome 10, is a negative regulator of the phosphoinositide 3-kinase (PI3K) signaling …
MiR‐181a‐5p promotes neural stem cell proliferation and enhances the learning and memory of aged mice
Q Sun, L Ma, J Qiao, X Wang, J Li, Y Wang, A Tan… - Aging cell, 2023 - Wiley Online Library
Hippocampal neural stem cell (NSC) proliferation is known to decline with age, which is
closely linked to learning and memory impairments. In the current study, we found that the …
closely linked to learning and memory impairments. In the current study, we found that the …
[HTML][HTML] Synergistic hyperactivation of both mTORC1 and mTORC2 underlies the neural abnormalities of PTEN-deficient human neurons and cortical organoids
NK Dhaliwal, OY Weng, X Dong, A Bhattacharya… - Cell Reports, 2024 - cell.com
Mutations in the phosphatase and tensin homolog (PTEN) gene are associated with severe
neurodevelopmental disorders. Loss of PTEN leads to hyperactivation of the mechanistic …
neurodevelopmental disorders. Loss of PTEN leads to hyperactivation of the mechanistic …
Unraveling the genetic architecture of hepatoblastoma risk: birth defects and increased burden of germline damaging variants in gastrointestinal/renal cancer …
The ultrarare hepatoblastoma (HB) is the most common pediatric liver cancer. HB risk is
related to a few rare syndromes, and the molecular bases remain elusive for most cases. We …
related to a few rare syndromes, and the molecular bases remain elusive for most cases. We …
Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for …
D Oliveira, DA Morales-Vicente… - Human molecular …, 2020 - academic.oup.com
Amyotrophic lateral sclerosis type 8 (ALS8) is an autosomal dominant form of ALS, which is
caused by pathogenic variants in the VAPB gene. Here we investigated five ALS8 patients …
caused by pathogenic variants in the VAPB gene. Here we investigated five ALS8 patients …
[HTML][HTML] ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons
Abstract Vaccinia-related kinase 1 (VRK1) is a gene which has been implicated in the
pathological process of a broad range of neurodevelopmental disorders as well as …
pathological process of a broad range of neurodevelopmental disorders as well as …
Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role
PV Andrade, JM Santos, ACB Teixeira, VF Sogari… - Genes, 2023 - mdpi.com
Rhabdomyosarcomas have been described in association with thyroid disease,
dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not …
dermatomyositis, Duchenne muscular dystrophy, and in muscular dystrophy models but not …
Investigating genetic factors contributing to variable expressivity of class I 17p13. 3 microduplication
GC Tolezano, SS da Costa… - … of Molecular and …, 2021 - pmc.ncbi.nlm.nih.gov
17p13. 3 microduplications are rare copy number variations (CNVs) associated with variable
phenotypes, including facial dysmorphism, developmental delay, intellectual disability, and …
phenotypes, including facial dysmorphism, developmental delay, intellectual disability, and …