Publications by authors named "Ryan Mokhtari"

Objectives: Primary hepatic angiosarcoma is a rare tumor of the liver that originates from endothelial and fibroblastic tissue, with poor prognosis and lack of standardized treatment. We retrospectively analyzed the clinical characteristics and treatment outcomes of 23 patients with primary liver angiosarcoma treated at an academic sarcoma center.

Methods: We screened all patients with primary liver angiosarcoma treated at Stanford between 2000 and 2022.

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Cutaneous angiosarcoma (CAS) is a rare and aggressive malignant tumor with blood vessel or lymphatic-type endothelial differentiation. It has a poor prognosis with lack of standardized treatment options. This study retrospectively evaluated the clinical characteristics and treatment outcomes of 47 patients with CAS of the head and neck treated at an academic sarcoma center.

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Article Synopsis
  • Lowe syndrome (LS) is a rare genetic disorder caused by mutations in an X-linked gene, leading to symptoms like congenital cataracts, neurodevelopmental impairments, and kidney dysfunction.
  • Research indicates that these mutations negatively impact cellular processes, particularly in kidney and brain cells, affecting the recycling of essential proteins and the formation of actin structures.
  • The study leverages induced pluripotent stem (iPS) cells from LS patients to explore how these genetic issues manifest in neurons, revealing deficiencies in actin production and abnormal WAVE-1 expression crucial for neuron function.
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Depression is known as one of important psychiatric disorders which could be associated with disability among various populations. Diagnostic and statistical manual of mental disorders, 4th edition (DSM-IV) and international statistical classification of diseases and related health problems (ICD-10) could be used as subjective diagnostic schemes for identification of mental disorders such as depression. Utilization of subjective diagnostic schemes are associated with limitations.

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Background: Rett syndrome (RTT) is a severe, neurodevelopmental disorder primarily affecting girls, characterized by progressive loss of cognitive, social, and motor skills after a relatively brief period of typical development. It is usually due to de novo loss of function mutations in the X-linked gene, , which codes for the gene expression and chromatin regulator, methyl-CpG binding protein 2. Although the behavioral phenotype appears to be primarily due to neuronal Mecp2 deficiency in mice, other cell types, including astrocytes and oligodendrocytes, also appear to contribute to some aspects of the RTT phenotype.

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Background: (chromodomain helicase DNA-binding protein 8), which codes for a member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the most commonly mutated genes in autism spectrum disorders (ASD) identified in exome-sequencing studies. Loss of function mutations in the gene have also been found in schizophrenia (SZ) and intellectual disabilities and influence cancer cell proliferation. We previously reported an RNA-seq analysis carried out on neural progenitor cells (NPCs) and monolayer neurons derived from induced pluripotent stem (iPS) cells that were heterozygous for knockout (KO) alleles generated using CRISPR-Cas9 gene editing.

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Article Synopsis
  • Maternal immune activation from infectious diseases during pregnancy may increase the risk of developing schizophrenia, supported by genetic links to the human leukocyte antigen (HLA) locus.
  • HLA proteins (or MHC in mice) play a role in immune responses and genetic variations here are linked to autoimmune and infectious disease susceptibility.
  • The relationship between HLA genetics and schizophrenia is complex, potentially involving non-immune processes like synaptic pruning, and some genetic signals may relate to other genes, indicating further research is needed to clarify these mechanisms.
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