Germline stem cell proliferation in requires activation of the GLP-1/Notch receptor, which is located on the germline plasma membrane and encoded by the gene. We previously identified several genes whose products directly or indirectly promote activity of the GLP-1 signaling pathway by finding mutations that enhance the germline phenotype of a allele, . Here, we report phenotypic and molecular analysis of a new allele, , that enhances the phenotype. is a 244 bp deletion predicted to generate a frameshift and premature termination codon, yielding a severely truncated protein, suggesting it is a null allele.
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http://dx.doi.org/10.17912/micropub.biology.000698 | DOI Listing |
Am J Cancer Res
December 2024
School of Basic Medical Sciences, Jiamusi University No. 258, Xuefu Street, Xiangyang District, Jiamusi 154007, Heilongjiang, China.
Breast cancer is the most common malignant tumour in women, with more than 685,000 women dying of breast cancer each year. The heterogeneity of breast cancer complicates both treatment and diagnosis. Traditional methods based on histopathology and hormone receptor status are now no longer sufficient.
View Article and Find Full Text PDFUnlabelled: is one of the three most frequently mutated genes in age-related clonal hematopoiesis (CH), alongside and . CH can progress to myeloid malignancies including chronic monomyelocytic leukemia (CMML), and is also strongly associated with inflammatory cardiovascular disease and all-cause mortality in humans. DNMT3A and TET2 regulate DNA methylation and demethylation pathways respectively, and loss-of-function mutations in these genes reduce DNA methylation in heterochromatin, allowing de-repression of silenced elements in heterochromatin.
View Article and Find Full Text PDFNeurons require high amounts energy, and mitochondria help to fulfill this requirement. Dysfunc-tional mitochondria trigger problems in various neuronal tasks. Using the neuromuscular junction (NMJ) as a model synapse, we previously reported that Mitochondrial Complex I (MCI) subunits were required for maintaining NMJ function and growth.
View Article and Find Full Text PDFCureus
December 2024
Department of Medicine, Jawaharlal Nehru Medical College and Hospital, Aligarh Muslim University, Aligarh, IND.
Primary aldosteronism (PA) is a common cause of secondary hypertension, with familial hyperaldosteronism (FH) contributing to a lesser number of cases. FH type IV, a rare subtype, has hardly been reported as a subtype of PA cases. We present a case of a 27-year-old female who presented to the emergency department with circumoral tingling and numbness.
View Article and Find Full Text PDFCureus
December 2024
Pediatric Neurology, Bahrain Defence Force Hospital, Riffa, BHR.
Super-refractory status epilepticus (SRSE) is defined as status epilepticus that persists or recurs after treatment with anesthetic agents for more than 24 hours, including cases with recurrent seizures on reduction or withdrawal of anesthetic drugs. Super-refractory status epilepticus presents a significant challenge for neurologists, particularly when standard treatments fail to achieve seizure control. Lacosamide, which has a unique mechanism involving modulating voltage-gated sodium channels by enhancing their slow inactivation, has emerged as a potential option for managing SRSE.
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