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- Jun 16, 2021
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Title.
I have many health issues and they're limiting me a lot.
I have many health issues and they're limiting me a lot.
The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability
Genetic variants in and around the transcription factor 4 (TCF4) gene are associated with range of disorders that are frequently associated with cognitive dysfunction.1–3 The most recent schizophrenia GWAS reported three independent single nucleotide polymorphisms (SNPs) in TCF4 that surpassed the threshold for genome wide significance.4 Intriguingly, rare TCF4 single nucleotide variants (SNVs) have also been described in schizophrenia patients, although their impact on the function of the protein has not been established.5,6 In addition to the genetic studies in schizophrenia, TCF4 variants are associated with early information processing and cognitive markers, some of which are schizophrenia endophenotypes.7–10 Damaging TCF4 mutations have also been described in large-scale genotyping studies in patients with ID, neurodevelopmental disorders, and most recently ASD.11–15 Haploinsufficiency of TCF4 causes Pitt–Hopkins syndrome (PTHS); a rare form intellectual disability (ID) associated with characteristic facial features, autonomic dysfunction, and behavioral traits that resemble autism spectrum disorder (ASD).16–19 Collectively, these studies implicate TCF4 in a range of neurodevelopmental disorders.
CF4 is a member of the basic helix-loop-helix (bHLH) family of proteins.20–22 For the purposes of disambiguation, it should be noted that TCF4 (Gene ID: 6925) described herein should not be confused with T-cell factor 4 (Gene ID: 6934, official gene symbol, TCF7L2) since they can share the same acronym. TCF4 and its paralogues, collectively known as E-proteins, interact with other bHLH proteins to regulate DNA binding specificity and transcriptional activity at promoters and enhancers that contain E-boxes (5′-CANNTG).2,20,23 The human TCF4 gene encodes multiple protein isoforms of which only the major isoforms TCF4-A and TCF4-B have been characterized in detail.24 In neurons, TCF4 regulates the intrinsic excitability of pyramidal cells of the prefrontal cortex and has been shown to attenuate neurite branching.25,26 Furthermore, haploinsufficiency of Tcf4 in mice affects gene expression and DNA methylation in the brain, leading to enhanced long-term potentiation, learning and memory deficits, and autistic-like behavior.22,25,26 By contrast, mice over-expressing Tcf4 in the brain display deficits in sensorimotor gating, fear conditioning, and circadian processes as well as impairments in attentional and behavioral anticipation.7,27
This is, sadly, often true.
Anorectal Malformation/Hypospadias/Dermoid Cyst(s)/Brain Lesion(Suspected Infantile Seizures) --> Autistic Spectrum Disorder/ADHD/Dyscalculia/PTSD/Generalized Anxiety Disorder/Essential Tremor/Dyspraxia/Scoliosis/Osteoporosis
I don't understand everything, but gosh, that's a lot of health issues.Birth:
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The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability
AbstractBackground. Common genetic variants in and around the gene encoding transcription factor 4 (TCF4) are associated with an increased risk of schizophacademic.oup.com
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Lesion:
How do you guys cope?