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Ayurveda Renaissance – Quo Vadis?
Published in D. Suresh Kumar, Ayurveda in the New Millennium, 2020
Several methylated sequences of vāta prakṛti were found to be represented in biological processes like cell communication, transcription, signal transduction pathways and embryo morphogenesis. The associated genes are involved especially in neuronal development. Additionally, the NFIX gene was found to be associated with low body mass index (B.M.I.) which is one of the characteristic signs of vāta prakṛti (Rotti et al. 2015).
Sotos Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
It should be noted that mutation in the nuclear factor I/X type gene (NFIX) on chromosome 19p13.3 may produce an autosomal dominant disorder known as Malan syndrome (or Sotos syndrome 2) [11–13]. Nuclear factor I is a ubiquitous 47-kD dimeric DNA-binding protein with the capability of stimulating the transcription of genes in cooperation with other factors such as estrogen receptor (ESR). In addition, alteration in the APC2 gene on chromosome 19p13.3 may cause an autosomal recessive disease known as Sotos syndrome 3. APC2 is a 2303-aa protein gene preferentially expressed in postmitotic neurons. As NSD1 is shown to downregulate APC2 in neurons, it is no surprise that Apc2-deficient (Apc2−/−) mice exhibit impaired learning and memory abilities along with an abnormal head shape [14,15]. Given that the mitogen-activated protein kinase (MAPK) pathway is a diminished activity state in Sotos syndrome, it may be also involved in statural overgrowth and accelerated skeletal maturation [16]. In addition, NSD1 forms as a fusion transcript with NUP98, playing a part in leukemogenesis through H3K36 methylation and subsequent HOX-A gene activation, particularly childhood acute myeloid leukemia [17].
Applications of imaging genomics beyond oncology
Published in Ruijiang Li, Lei Xing, Sandy Napel, Daniel L. Rubin, Radiomics and Radiogenomics, 2019
Xiaohui Yao, Jingwen Yan, Li Shen
As with many other complex diseases, a substantial progress in the discovery of genetic factors contributing to the pathology of bipolar disease has been achieved by genome-wide association studies. Testing 1.8 million variants in 4,387 cases and 6,209 controls, Ferreira et al. identified the region of ankyrin 3 (ANK3) and calcium voltage-gated channel subunit alpha1 C (CACNA1C) in strong association with disease risk [138]. The Psychiatric Genome-Wide Association Study Consortium Bipolar Disorder Working Group (PGC-BD) later reported results with an even larger sample size [139] where genotype data were assembled from a combined analysis of 16,731 samples. They successfully confirmed the genome-wide significance of CACNA1C and identified several other genetic regions, such as teneurin transmembrane protein (TENM4 [ODZ4]), ANK3,and spectrin repeat containing nuclear envelope protein 1 (SYNE1), to be related with bipolar. However, in the subsequent replication study with 46,912 samples, only 18 SNPs from CACNA1C and ODZ4 showed significant signals with the same effect direction. Results from a recent GWAS based on Japanese population support nuclear factor I X (NFIX), mitotic arrest deficient 1 like 1 (MAD1L1), tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), and ODZ4 as susceptible genes associated with bipolar disease risk [140].
Biomarkers for bipolar disorder: current status and challenges ahead
Published in Expert Review of Neurotherapeutics, 2019
Antonio L. Teixeira, Gabriela D. Colpo, Gabriel R. Fries, Isabelle E. Bauer, Sudhakar Selvaraj
According to the National Human Genome Research Institute Catalogue of Published GWAS studies [86], there are 97 studies published to date with a focus on BD. These have identified associations with 961 loci with varying levels of genome-wide significance in different populations and specific phenotypes. The strongest hits are described in Table 3 and include genes with reported roles in calcium signaling (CACNA1C), hydrolase activity (TRANK1), cell cycle control (MAD1L1), cytoskeleton (ANK3), fatty acids metabolism (FADS2), secretory pathways (LMAN2L), phosphoprotein phosphatase activity (PPM1M), transcription factor activity (NFIX), neuronal connectivity (ODZ4), among others. It is worth mentioning that enrichment analyses found limited overlap between blood-based proteomics, as discussed in the previous section, and genetic loci identified in GWAS in BD [74].