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Endocrine Pathology
Research Hotspot & Journal Scope - Mutations


Endocrine Pathology - DOI: 10.1007/s12022-019-09595-0
Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations

Valeria Maffeis · Rocco Cappellesso · Lorenzo Nicolè · Vincenza Guzzardo · Chiara Menin · Lisa Elefanti · Francesca Schiavi · Maria Guido · Ambrogio Fassina ·

Biology Medicine
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Endocrine Pathology - DOI: 10.1007/s12022-019-09594-1
Malignant Intrarenal/Renal Pelvis Paraganglioma with Co-Occurring SDHB and ATRX Mutations

Trent Irwin · Eric Q Konnick · Maria S Tretiakova ·

Medicine
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Conclusion In our report of adult and pediatric patients, early presentation in childhood with hypertrophic cardiomyopathy and skeletal muscle involvement was common, demonstrating the challenges of the clinical management of PRKAG2 mutations.

A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations [10.1155/2019/7640140]


DAXX mutations were associated with TSC2 mutations (46% vs 10%, P < 0.

Performance of DAXX Immunohistochemistry as a Screen for DAXX Mutations in Pancreatic Neuroendocrine Tumors [10.1097/MPA.0000000000001256]


We propose that the active epigenetic landscape support decreased genomic stability and higher susceptibility for expansion mutations.

Open chromatin structure in PolyQ disease-related genes: a potential mechanism for CAG repeat expansion in the normal human population [10.1093/NARGAB/LQZ003]


MTHFR and POLG mutations were consistent with the severe muscle weakness and the metabolic changes, including hyperhomocysteinemia and decreased activity of both N(5,10)methylenetetrahydrofolate reductase (MTHFR) and complexes I and II of the mitochondrial respiratory chain.

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis [10.1038/s10038-019-0689-y]


ABCA3 mutations-related lung disease inheritance is autosomal recessive, as it requires two disease-causing (bi-allelic) mutations, one from each parent.

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood [10.1183/23120541.00066-2019]


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