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| http://dx.doi.org/10.1016/j.parkreldis.2025.107303 | DOI Listing |
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ECHS 1 mutation: Expanding the genotype of adulthood onset cervico-brachial dystonia with sensorineural hearing loss.
Parkinsonism Relat Disord
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Department of Neurology, AIIMS, New Delhi, 110029, India.
Screening for Fabry disease in patients on Hemodialysis.
Int J Appl Basic Med Res
August 2024
Division of Clinical Genetics, Department of Paediatrics, Army Hospital Research and Referral, New Delhi, India.
Background: Fabry disease is an under-recognized X-linked lysosomal storage disorder characterized by the accumulation of trihexosylceramides in multifarious tissues, leading to end-organ damage, including progressive renal failure. Antecedent screening studies worldwide have shown inconsistent prevalence in the hemodialysis population. We conducted this study to screen for Fabry disease in patients undergoing dialysis at a tertiary care hospital.
View Article and Find Full Text PDFGNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.
Am J Hum Genet
July 2024
Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, China International Neuroscience Institute, National Center for Neurological Disorders, Beijing, China; Department of Neurosurgery, Xiongan Xuanwu Hospital, Xiong'an New Area, China. Electronic address:
Article Synopsis
- Extra-axial cavernous hemangiomas (ECHs) are vascular lesions primarily found in the spine and cavernous sinus, posing risks during removal due to their complex nature and unclear genetic basis.
- Genetic analyses of 31 ECH tissue samples revealed that 77.4% had mutations in specific genes (GNA14, GNAQ, GJA4), which were linked to significant changes in various cellular pathways, particularly those involved in angiogenesis.
- Treatment with rapamycin in a 14-year-old patient with a specific GNAQ mutation showed promising results, with reduced hemangiomas and improved strength, indicating potential for targeted therapy in ECH treatment.
The energy-converting hydrogenase Ech2 is important for the growth of the thermophilic acetogen on ferredoxin-dependent substrates.
Microbiol Spectr
April 2024
Microbiology, Institute for Biological Sciences, University of Rostock, Rostock, Germany.
Unlabelled: is the thermophilic acetogenic bacterium with the highest temperature optimum (66°C) and with high growth rates on hydrogen (H) plus carbon dioxide (CO). The bioenergetic model suggests that its redox and energy metabolism depends on energy-converting hydrogenases (Ech). Its genome encodes two Echs, Ech1 and Ech2, as sole coupling sites for energy conservation during growth on H + CO.
View Article and Find Full Text PDFSomatic mutation in intracranial extra-axial cavernous hemangiomas.
Stroke Vasc Neurol
December 2023
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China
Objective: Extra-axial cavernous hemangiomas (ECHs) are sporadic and rare intracranial occupational lesions that usually occur within the cavernous sinus. The aetiology of ECHs remains unknown.
Methods: Whole-exome sequencing was performed on ECH lesions from 12 patients (discovery cohort) and droplet digital polymerase-chain-reaction (ddPCR) was used to confirm the identified mutation in 46 additional cases (validation cohort).