Publications by authors named "Chofit Chai Gadot"
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay and a typical behavioral phenotype. Interstitial 17p11.2 deletions, which include the RAI1 gene are detected in >90% of patients, while single nucleotide variants (SNVs) are detected in the rest.
View Article and Find Full Text PDFBackground: The gene encodes a subunit of the conserved LSM1-7 protein complex involved in messenger RNA (mRNA) metabolism. Variants in the gene have been described in two separate case reports. The first published report identified the homozygous splice-site variant c.
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- Yellow Nail Syndrome (YNS) is a rare condition marked by yellow, malformed nails, swelling due to lymphedema, and chronic lung issues, typically presenting in adulthood, with potential genetic links suggested.
- Researchers conducted genetic sequencing and expression studies on 11 patients (6 with congenital YNS and 5 with sporadic YNS) to investigate its underlying causes.
- Findings revealed biallelic variants in genes related to the Wnt/planar cell polarity pathway in congenital cases, indicating that defects in cellular organization could be key to understanding YNS's development, though the study's small sample size is a limitation.
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
N Engl J Med
November 2023
Article Synopsis
- Two siblings both exhibited serious heart conditions including cardiomyopathy, hypertension, and arrhythmia, linked to a genetic mutation affecting a specific enzyme related to heart function.
- One sibling's plasma analysis revealed the absence of important proteins, while levels of BNP and a marker for heart tissue damage were elevated, indicating a dysfunctional heart response.
- The findings suggest that BNP cannot replace the role of the ANP pathway, highlighting the essential role of corin in maintaining heart function and overall cardiovascular health.
Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by variants in PCCA or PCCB, both sub-units of the propionyl-CoA carboxylase (PCC) enzyme. PCC is required for the catabolism of certain amino acids and odd-chain fatty acids. In its absence, the accumulated toxic metabolites cause metabolic acidosis, neurologic symptoms, multi-organ dysfunction and possible death.
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- - AOA2 is a rare disease in adolescents, marked by symptoms like brain atrophy, nerve damage, and high alpha-fetoprotein levels, caused by mutations in the SETX gene related to DNA repair and RNA function.
- - Gene sequencing in two families identified new mutations in the SETX gene, which were linked to increased chromosome damage and higher sensitivity to oxidative stress, showcasing the impact of these mutations on cellular health.
- - The findings suggest a broader range of clinical symptoms for AOA2 and hint at new therapeutic strategies due to the discovery of a potential "poison exon" in the SETX gene, which might help in creating customized treatments.
Liver fibrosis (LF) is a major cause of morbidity and mortality worldwide. Hepatic stellate cells (HSCs) are the primary source of extracellular matrix in the liver and their activation is a central event in LF development. Extracellular vesicles (EVs) are intercellular communication agents, which play important roles in physiological processes in chronic liver diseases.
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