Endocrinological Signs

Dennis, Mark; Bowen, William T.; Cho, Lucy

doi:10.1016/b978-0-7295-4075-9.00007-4

Cited by 2 publications

(2 citation statements)

References 68 publications

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“…ASL, AGL and GBE1 are among 135 genes revealed to be co-expressed in carbohydrate metabolic disorder (Table S1, Supplementary file). Phenotypically, computational analysis showed that all four proteins are linked with hepatomegaly, leukemia, and heart and blood vessel abnormalities [31]. The pathogenicity prediction of variants identified in the BTD, ASL, GBE1 and AGL genes using in silico tools is depicted in Table 2.…”

Section: In Silico Gene Co-expression and Functional Interpretationsmentioning

confidence: 99%

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

Latif,

Hashmi,

Alayoubi

et al. 2024

JCM

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Background and Objectives: Inherited metabolic disorders (IMDs) are a group of genetic disorders characterized by defects in enzymes or transport proteins involved in metabolic processes. These defects result in an abnormal accumulation of metabolites and thus interfere with the body’s metabolism. A variety of IMDs exist and differential diagnosis is often challenging. Our objective was to gain insight into the genetic basis of IMDs and the correlations between specific genetic mutations and clinical presentations in patients admitted at various hospitals in the Madinah region of the Kingdom of Saudi Arabia. Material and Methods: Whole exome sequencing (WES) has emerged as a powerful tool for diagnosing IMDs and allows for the identification of disease-causing genetic mutations in individuals suspected of IMDs. This ensures accurate diagnosis and appropriate management. WES was performed in four families with multiple individuals showing clinical presentation of IMDs. Validation of the variants identified through WES was conducted using Sanger sequencing. Furthermore, various computational analyses were employed to uncover the disease gene co-expression and metabolic pathways. Results: Exome variant data analysis revealed missense variants in the BTD (c.1270G > C), ASL (c.1300G > T), GBE1 (c.985T > G) and AGL (c.113C > G) genes. Mutations in these genes are known to cause IMDs. Conclusions: Thus, our data showed that exome sequencing, in conjunction with clinical and biochemical characteristics and pathological hallmarks, could deliver an accurate and high-throughput outcome for the diagnosis and sub-typing of IMDs. Overall, our findings emphasize that the integration of WES with clinical and pathological information has the potential to improve the diagnosis and understanding of IMDs and related disorders, ultimately benefiting patients and the medical community.

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Section: In Silico Gene Co-expression and Functional Interpretationsmentioning

confidence: 99%

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

Latif,

Hashmi,

Alayoubi

et al. 2024

JCM

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“…The bust does not display Pyrrhus’ teeth directly, but it does display mild frontal bossing, a potential clue to an underlying diagnosis. Frontal bossing may be associated with a number of systemic conditions, including acromegaly, fragile X syndrome, and extramedullary hematopoiesis [ 12 ]. However, in a number of ectodermal syndromes, frontal bossing may also be associated with dental abnormalities [ 13 ].…”

Section: Reviewmentioning

confidence: 99%

“The Terrors of Kingly Power”: The Unusual Dental Pathology of King Pyrrhus of Epirus

Turner¹,

Lawson²,

Smith³

2023

Cureus

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Pyrrhus of Epirus, widely respected and feared by his contemporaries, was a legendary figure in the ancient world. In this paper, we investigate Plutarch's description of the king's unique dental pathology. There are several possibilities to explain the ancient king's presentation, including several different types of developmental dysplasia. However, our conclusion is that it was likely due to a significant dental calculus overgrowth, often seen in the ancient Greek diet of the time. Whatever the underlying cause, Pyrrhus' intimidating visage helped secure the king a legacy that lasts to this day.

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Endocrinological Signs

Cited by 2 publications

References 68 publications

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia

“The Terrors of Kingly Power”: The Unusual Dental Pathology of King Pyrrhus of Epirus

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