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Genetic and clinical analysis of in amyotrophic lateral sclerosis.
J Med Genet
January 2025
Department of Neurology, Sichuan University, Chengdu, Sichuan, China
Background: Considerable heterogeneity in genotypes and phenotypes has been observed among patients with amyotrophic lateral sclerosis (ALS) harbouring optineurin gene () mutations, as reported in prior studies. The study aimed to elucidate the correlation between genotypes and phenotypes.
Methods: gene variants were screened within a substantial Chinese cohort of patients with ALS, encompassing LoF and rare missense variants.
GTF2I acts as a novel tumor suppressor transcription factor and shows Favorable prognosis in renal cancer.
Integr Biol (Camb)
January 2025
Manipal Academy of Higher Education (MAHE), Manipal 576104, Karnataka, India.
The role of GTF2I (General Transcription Factor2I) alteration has already been reported in thymic cancer as a valuable biomarker. However, the association of GTF2I mutation with renal cancer for prognosis of immunotherapy is not yet examined. The biologic and oncologic significance of GTF2I in renal cancer was examined at multiomics level such as mutation, copy number alteration, structural variants.
View Article and Find Full Text PDFIdentification of a novel missense variant in the gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, Ogaki Municipal Hospital, Ogaki, Japan.
Familial neurohypophyseal diabetes insipidus is a rare genetic disease caused by gene variants and is characterized by progressive polyuria and polydipsia in early childhood. Herein, we have reported the clinical symptoms and genetic test results of a Japanese patient with a family history of polyuria and polydipsia for over five generations. The proband was a 6-yr-old boy who was referred for the evaluation of polyuria and polydipsia.
View Article and Find Full Text PDFWieacker-Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, The University of Tokyo, Tokyo, Japan.
Wieacker-Wolff syndrome (WRWF) is an X-linked genetic disorder characterized by neuromusculoskeletal abnormalities caused by loss-of-function variants of the gene. Here, we report the case of a male infant with WRWF manifesting as multiple joint contractures and congenital anomalies at birth. He underwent gastrostomy to treat the gastroesophageal reflux disease, which caused mixed apnea and transient bradycardia.
View Article and Find Full Text PDFAnalysis of exportins expression unveils their prognostic significance in colon adenocarcinoma: insights from public databases.
Discov Oncol
January 2025
Department of Molecular Biology and Biochemistry, Guru Nanak Dev University, Amritsar, Punjab, 143005, India.
Colon cancer remains a significant health burden globally, necessitating deeper investigation. Identification and targeting of prognostic markers can significantly improve the current therapeutic approaches for colon cancer. The differential nuclear transport (import and export) of cellular proteins, plays an important role in tumor progression.
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